Incidental Mutation 'R1938:Trio'
| ID |
213744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trio
|
| Ensembl Gene |
ENSMUSG00000022263 |
| Gene Name |
triple functional domain (PTPRF interacting) |
| Synonyms |
Solo, 6720464I07Rik |
| MMRRC Submission |
039956-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1938 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
27730737-28025934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27732977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 2968
(I2968N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090247]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090247
AA Change: I2968N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087714
Gene: ENSMUSG00000022263
AA Change: I2968N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
|
SEC14
|
68 |
207 |
3.4e-26 |
SMART |
|
SPEC
|
221 |
337 |
2.48e-9 |
SMART |
|
SPEC
|
343 |
445 |
1.92e-15 |
SMART |
|
SPEC
|
569 |
671 |
5.35e-14 |
SMART |
|
SPEC
|
674 |
783 |
1.18e-6 |
SMART |
|
SPEC
|
910 |
1011 |
2.6e-12 |
SMART |
|
SPEC
|
1141 |
1243 |
7e-18 |
SMART |
|
low complexity region
|
1249 |
1258 |
N/A |
INTRINSIC |
|
RhoGEF
|
1296 |
1466 |
2.79e-53 |
SMART |
|
PH
|
1480 |
1593 |
1.53e-9 |
SMART |
|
SH3
|
1659 |
1720 |
1.9e-8 |
SMART |
|
low complexity region
|
1788 |
1802 |
N/A |
INTRINSIC |
|
low complexity region
|
1837 |
1863 |
N/A |
INTRINSIC |
|
low complexity region
|
1936 |
1954 |
N/A |
INTRINSIC |
|
RhoGEF
|
1973 |
2144 |
1.32e-63 |
SMART |
|
PH
|
2158 |
2273 |
3.6e-6 |
SMART |
|
low complexity region
|
2291 |
2341 |
N/A |
INTRINSIC |
|
low complexity region
|
2371 |
2390 |
N/A |
INTRINSIC |
|
low complexity region
|
2491 |
2503 |
N/A |
INTRINSIC |
|
SH3
|
2558 |
2619 |
1.04e0 |
SMART |
|
low complexity region
|
2640 |
2660 |
N/A |
INTRINSIC |
|
IGc2
|
2701 |
2770 |
4e-12 |
SMART |
|
S_TKc
|
2800 |
3054 |
4.84e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228054
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 133 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,824,795 (GRCm39) |
K134R |
possibly damaging |
Het |
| Adamts17 |
T |
C |
7: 66,774,820 (GRCm39) |
S980P |
probably damaging |
Het |
| Adap2 |
T |
A |
11: 80,061,508 (GRCm39) |
I221K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,539,876 (GRCm39) |
R5681Q |
probably damaging |
Het |
| Adipor1 |
T |
A |
1: 134,350,841 (GRCm39) |
L30Q |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,928,181 (GRCm39) |
T249A |
probably benign |
Het |
| Agxt2 |
G |
T |
15: 10,392,021 (GRCm39) |
G329V |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,427,233 (GRCm39) |
V801A |
possibly damaging |
Het |
| Ap1g2 |
A |
G |
14: 55,337,229 (GRCm39) |
V702A |
possibly damaging |
Het |
| Arid3a |
A |
G |
10: 79,786,540 (GRCm39) |
Q429R |
probably damaging |
Het |
| Arsb |
T |
A |
13: 93,998,658 (GRCm39) |
L322Q |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,729 (GRCm39) |
T1203A |
probably damaging |
Het |
| Atad2 |
T |
A |
15: 57,960,101 (GRCm39) |
N1308Y |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,121,245 (GRCm39) |
R969S |
probably benign |
Het |
| Bmp10 |
T |
C |
6: 87,410,702 (GRCm39) |
I165T |
possibly damaging |
Het |
| Ccdc121rt2 |
C |
A |
5: 112,597,667 (GRCm39) |
C71* |
probably null |
Het |
| Ccne1 |
A |
G |
7: 37,805,702 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,953,240 (GRCm39) |
N1565D |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,982,748 (GRCm39) |
E1404D |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,847,200 (GRCm39) |
E1648K |
probably damaging |
Het |
| Chodl |
T |
C |
16: 78,738,314 (GRCm39) |
I94T |
possibly damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,584 (GRCm39) |
F574S |
probably damaging |
Het |
| Clpb |
A |
T |
7: 101,412,863 (GRCm39) |
I317F |
probably damaging |
Het |
| Cnga3 |
T |
A |
1: 37,300,954 (GRCm39) |
V558D |
possibly damaging |
Het |
| Col9a1 |
C |
T |
1: 24,261,554 (GRCm39) |
P573S |
probably damaging |
Het |
| Crat |
A |
T |
2: 30,303,073 (GRCm39) |
D71E |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,794,385 (GRCm39) |
T707A |
probably benign |
Het |
| Ctsr |
T |
A |
13: 61,310,259 (GRCm39) |
R132S |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,206,024 (GRCm39) |
L255P |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,837,810 (GRCm39) |
Y424C |
probably damaging |
Het |
| Ddx27 |
A |
T |
2: 166,876,029 (GRCm39) |
K726N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,772 (GRCm39) |
Q121R |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,335,026 (GRCm39) |
F192S |
probably benign |
Het |
| Ect2l |
C |
T |
10: 18,020,383 (GRCm39) |
S487N |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,487,655 (GRCm39) |
F524L |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,213,477 (GRCm39) |
I601T |
probably benign |
Het |
| Fbxo40 |
C |
A |
16: 36,789,713 (GRCm39) |
V466L |
probably damaging |
Het |
| Frmpd1 |
C |
T |
4: 45,283,711 (GRCm39) |
T844M |
probably damaging |
Het |
| Frs2 |
T |
A |
10: 116,917,011 (GRCm39) |
|
probably benign |
Het |
| Fuom |
G |
T |
7: 139,679,521 (GRCm39) |
T133K |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,895,212 (GRCm39) |
H619L |
probably damaging |
Het |
| Gm4861 |
G |
T |
3: 137,257,876 (GRCm39) |
N36K |
unknown |
Het |
| Gps2 |
G |
T |
11: 69,806,195 (GRCm39) |
M153I |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,444,099 (GRCm39) |
V52A |
probably damaging |
Het |
| Gtpbp8 |
A |
T |
16: 44,565,785 (GRCm39) |
D137E |
probably benign |
Het |
| Haus4 |
A |
G |
14: 54,781,733 (GRCm39) |
C213R |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,448,317 (GRCm39) |
H142L |
possibly damaging |
Het |
| Hephl1 |
T |
C |
9: 14,965,283 (GRCm39) |
D1069G |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,602,926 (GRCm39) |
V535D |
probably damaging |
Het |
| Hipk3 |
A |
T |
2: 104,260,533 (GRCm39) |
H1082Q |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,422,691 (GRCm39) |
V513D |
probably damaging |
Het |
| Ifna13 |
T |
A |
4: 88,562,412 (GRCm39) |
I71F |
probably damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,402,484 (GRCm39) |
I426T |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,738 (GRCm39) |
D483V |
probably benign |
Het |
| Jakmip3 |
A |
G |
7: 138,621,867 (GRCm39) |
R256G |
probably damaging |
Het |
| Jazf1 |
T |
C |
6: 52,754,600 (GRCm39) |
I159V |
probably damaging |
Het |
| Kmo |
A |
G |
1: 175,479,154 (GRCm39) |
D230G |
possibly damaging |
Het |
| Lrrc74b |
A |
G |
16: 17,371,058 (GRCm39) |
V213A |
probably benign |
Het |
| LTO1 |
A |
G |
7: 144,470,205 (GRCm39) |
S45G |
probably damaging |
Het |
| Ly6g5b |
T |
C |
17: 35,333,704 (GRCm39) |
D36G |
possibly damaging |
Het |
| Mab21l4 |
T |
C |
1: 93,079,730 (GRCm39) |
*453W |
probably null |
Het |
| Macc1 |
T |
G |
12: 119,409,466 (GRCm39) |
L78R |
probably damaging |
Het |
| Mettl4 |
A |
T |
17: 95,055,285 (GRCm39) |
D51E |
possibly damaging |
Het |
| Mfap1a |
G |
A |
2: 121,332,835 (GRCm39) |
L199F |
possibly damaging |
Het |
| Mmp17 |
G |
T |
5: 129,679,190 (GRCm39) |
R363L |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,324,052 (GRCm39) |
A1130T |
possibly damaging |
Het |
| Mrpl15 |
C |
T |
1: 4,847,805 (GRCm39) |
A165T |
probably damaging |
Het |
| Mrpl45 |
G |
A |
11: 97,206,770 (GRCm39) |
|
probably null |
Het |
| Ms4a3 |
C |
T |
19: 11,613,204 (GRCm39) |
A85T |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,830,882 (GRCm39) |
D77E |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,217,011 (GRCm39) |
L2489P |
probably damaging |
Het |
| Myl3 |
G |
A |
9: 110,595,802 (GRCm39) |
E100K |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,992,743 (GRCm39) |
N288Y |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,574,166 (GRCm39) |
V181A |
probably benign |
Het |
| Oat |
C |
T |
7: 132,159,934 (GRCm39) |
V429M |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,593,449 (GRCm39) |
*307C |
probably null |
Het |
| Or4x6 |
T |
G |
2: 89,949,427 (GRCm39) |
I172L |
probably damaging |
Het |
| Or5d36 |
A |
T |
2: 87,901,300 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or5p80 |
T |
C |
7: 108,230,045 (GRCm39) |
I282T |
probably benign |
Het |
| Or5w19 |
G |
A |
2: 87,698,805 (GRCm39) |
V157I |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,144 (GRCm39) |
F180L |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,626,759 (GRCm39) |
K233M |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,146 (GRCm39) |
T116A |
probably benign |
Het |
| Or8s16 |
T |
A |
15: 98,211,261 (GRCm39) |
M57L |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,533,713 (GRCm39) |
S1464P |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,613,436 (GRCm39) |
Y2010N |
probably damaging |
Het |
| Pgap3 |
C |
T |
11: 98,291,040 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
T |
A |
8: 125,100,988 (GRCm39) |
K332* |
probably null |
Het |
| Pgs1 |
C |
T |
11: 117,896,553 (GRCm39) |
P410L |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,363,434 (GRCm39) |
S618N |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,228,222 (GRCm39) |
D1073V |
probably damaging |
Het |
| Pola2 |
T |
A |
19: 6,001,208 (GRCm39) |
T309S |
probably benign |
Het |
| Polg2 |
T |
A |
11: 106,669,787 (GRCm39) |
H161L |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,285,033 (GRCm39) |
|
probably null |
Het |
| Ppt1 |
G |
T |
4: 122,739,784 (GRCm39) |
C128F |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,198,261 (GRCm39) |
P678S |
probably damaging |
Het |
| Rcan3 |
A |
T |
4: 135,139,812 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
T |
C |
15: 36,101,950 (GRCm39) |
N216S |
probably benign |
Het |
| Rgs7bp |
T |
A |
13: 105,088,090 (GRCm39) |
D228V |
probably damaging |
Het |
| Rhobtb2 |
A |
T |
14: 70,034,062 (GRCm39) |
S388T |
probably benign |
Het |
| Rnps1 |
C |
T |
17: 24,639,364 (GRCm39) |
R138C |
unknown |
Het |
| Rpl38 |
T |
C |
11: 114,562,602 (GRCm39) |
V36A |
probably benign |
Het |
| Rps7 |
G |
T |
12: 28,681,752 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Sec24b |
G |
T |
3: 129,785,010 (GRCm39) |
Q999K |
possibly damaging |
Het |
| Slc19a3 |
A |
G |
1: 82,997,089 (GRCm39) |
V373A |
possibly damaging |
Het |
| Spats2l |
T |
A |
1: 57,924,941 (GRCm39) |
V113E |
probably benign |
Het |
| Ss18l1 |
A |
T |
2: 179,705,138 (GRCm39) |
T377S |
unknown |
Het |
| Surf1 |
A |
G |
2: 26,805,982 (GRCm39) |
F38L |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,325,142 (GRCm39) |
R556H |
probably damaging |
Het |
| Tmem184b |
A |
G |
15: 79,250,014 (GRCm39) |
S254P |
probably damaging |
Het |
| Tnfrsf4 |
G |
T |
4: 156,100,692 (GRCm39) |
R237L |
possibly damaging |
Het |
| Tnk2 |
C |
A |
16: 32,482,560 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
T |
8: 35,305,684 (GRCm39) |
D1191E |
probably damaging |
Het |
| Tnr |
C |
A |
1: 159,722,607 (GRCm39) |
Y1017* |
probably null |
Het |
| Tomm34 |
A |
G |
2: 163,902,926 (GRCm39) |
I128T |
probably benign |
Het |
| Trim2 |
G |
A |
3: 84,085,099 (GRCm39) |
S540F |
possibly damaging |
Het |
| Ttc24 |
T |
C |
3: 87,982,181 (GRCm39) |
E17G |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,612,078 (GRCm39) |
H1117R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,565,752 (GRCm39) |
V28200D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,592,730 (GRCm39) |
S20801T |
possibly damaging |
Het |
| Ube3d |
C |
T |
9: 86,330,840 (GRCm39) |
C114Y |
probably damaging |
Het |
| Ugt2b37 |
A |
C |
5: 87,388,716 (GRCm39) |
L499R |
probably damaging |
Het |
| Vmn1r81 |
T |
C |
7: 11,994,589 (GRCm39) |
I6M |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,593 (GRCm39) |
Y327F |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,709,653 (GRCm39) |
S1867P |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,208,331 (GRCm39) |
V362A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,387,201 (GRCm39) |
M4951L |
unknown |
Het |
| Zcwpw1 |
T |
A |
5: 137,809,884 (GRCm39) |
L337Q |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,790,809 (GRCm39) |
D411E |
possibly damaging |
Het |
| Zfp628 |
C |
T |
7: 4,923,767 (GRCm39) |
T663I |
probably benign |
Het |
| Zfpm1 |
T |
A |
8: 123,061,663 (GRCm39) |
|
probably null |
Het |
| Zfyve19 |
T |
C |
2: 119,041,693 (GRCm39) |
S87P |
probably benign |
Het |
| Zswim9 |
T |
A |
7: 12,994,141 (GRCm39) |
K672* |
probably null |
Het |
|
| Other mutations in Trio |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Trio
|
APN |
15 |
27,912,829 (GRCm39) |
splice site |
probably benign |
|
|
IGL01011:Trio
|
APN |
15 |
27,736,575 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01090:Trio
|
APN |
15 |
27,773,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01145:Trio
|
APN |
15 |
27,818,253 (GRCm39) |
splice site |
probably benign |
|
|
IGL01147:Trio
|
APN |
15 |
27,881,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01161:Trio
|
APN |
15 |
27,749,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01324:Trio
|
APN |
15 |
27,905,409 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01352:Trio
|
APN |
15 |
27,901,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01366:Trio
|
APN |
15 |
27,732,954 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01443:Trio
|
APN |
15 |
27,838,861 (GRCm39) |
splice site |
probably benign |
|
|
IGL01454:Trio
|
APN |
15 |
27,833,071 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01695:Trio
|
APN |
15 |
27,773,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01765:Trio
|
APN |
15 |
27,764,112 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01860:Trio
|
APN |
15 |
27,846,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01879:Trio
|
APN |
15 |
27,741,119 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01991:Trio
|
APN |
15 |
27,871,360 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02106:Trio
|
APN |
15 |
27,744,244 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02209:Trio
|
APN |
15 |
27,744,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Trio
|
APN |
15 |
27,902,647 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02304:Trio
|
APN |
15 |
27,735,522 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02504:Trio
|
APN |
15 |
27,847,476 (GRCm39) |
nonsense |
probably null |
|
|
IGL02508:Trio
|
APN |
15 |
27,818,190 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02541:Trio
|
APN |
15 |
27,845,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL02617:Trio
|
APN |
15 |
27,841,935 (GRCm39) |
splice site |
probably benign |
|
|
IGL02675:Trio
|
APN |
15 |
27,768,125 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02817:Trio
|
APN |
15 |
27,902,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02993:Trio
|
APN |
15 |
27,830,325 (GRCm39) |
splice site |
probably benign |
|
|
IGL03007:Trio
|
APN |
15 |
27,902,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03135:Trio
|
APN |
15 |
27,832,097 (GRCm39) |
splice site |
probably benign |
|
|
IGL03225:Trio
|
APN |
15 |
27,902,781 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0063:Trio
|
UTSW |
15 |
27,881,523 (GRCm39) |
splice site |
probably benign |
|
|
R0063:Trio
|
UTSW |
15 |
27,881,523 (GRCm39) |
splice site |
probably benign |
|
|
R0302:Trio
|
UTSW |
15 |
27,902,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Trio
|
UTSW |
15 |
27,767,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0506:Trio
|
UTSW |
15 |
27,855,049 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0564:Trio
|
UTSW |
15 |
27,805,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Trio
|
UTSW |
15 |
27,831,485 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0882:Trio
|
UTSW |
15 |
27,732,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Trio
|
UTSW |
15 |
27,741,336 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1018:Trio
|
UTSW |
15 |
27,871,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Trio
|
UTSW |
15 |
27,898,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Trio
|
UTSW |
15 |
27,753,890 (GRCm39) |
splice site |
probably benign |
|
|
R1488:Trio
|
UTSW |
15 |
27,741,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Trio
|
UTSW |
15 |
27,732,726 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1531:Trio
|
UTSW |
15 |
27,833,071 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1640:Trio
|
UTSW |
15 |
27,833,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Trio
|
UTSW |
15 |
27,758,433 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1682:Trio
|
UTSW |
15 |
27,744,232 (GRCm39) |
splice site |
probably null |
|
|
R1780:Trio
|
UTSW |
15 |
27,744,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1791:Trio
|
UTSW |
15 |
27,841,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Trio
|
UTSW |
15 |
27,748,426 (GRCm39) |
missense |
probably benign |
|
|
R1817:Trio
|
UTSW |
15 |
27,742,581 (GRCm39) |
nonsense |
probably null |
|
|
R1853:Trio
|
UTSW |
15 |
27,756,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Trio
|
UTSW |
15 |
27,742,466 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1937:Trio
|
UTSW |
15 |
27,833,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Trio
|
UTSW |
15 |
27,774,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Trio
|
UTSW |
15 |
27,744,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2050:Trio
|
UTSW |
15 |
27,852,031 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2186:Trio
|
UTSW |
15 |
27,824,061 (GRCm39) |
splice site |
probably null |
|
|
R2913:Trio
|
UTSW |
15 |
27,854,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Trio
|
UTSW |
15 |
27,805,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Trio
|
UTSW |
15 |
27,748,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3773:Trio
|
UTSW |
15 |
27,748,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3826:Trio
|
UTSW |
15 |
27,833,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Trio
|
UTSW |
15 |
27,744,187 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4359:Trio
|
UTSW |
15 |
27,749,883 (GRCm39) |
nonsense |
probably null |
|
|
R4370:Trio
|
UTSW |
15 |
27,748,423 (GRCm39) |
nonsense |
probably null |
|
|
R4547:Trio
|
UTSW |
15 |
27,819,068 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4573:Trio
|
UTSW |
15 |
27,773,084 (GRCm39) |
small deletion |
probably benign |
|
|
R4620:Trio
|
UTSW |
15 |
27,871,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Trio
|
UTSW |
15 |
27,752,875 (GRCm39) |
splice site |
probably null |
|
|
R4764:Trio
|
UTSW |
15 |
27,732,624 (GRCm39) |
nonsense |
probably null |
|
|
R4775:Trio
|
UTSW |
15 |
27,881,428 (GRCm39) |
nonsense |
probably null |
|
|
R4942:Trio
|
UTSW |
15 |
27,752,811 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5004:Trio
|
UTSW |
15 |
27,755,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Trio
|
UTSW |
15 |
27,754,115 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5183:Trio
|
UTSW |
15 |
27,902,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Trio
|
UTSW |
15 |
27,898,077 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5268:Trio
|
UTSW |
15 |
27,748,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5344:Trio
|
UTSW |
15 |
27,735,618 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5407:Trio
|
UTSW |
15 |
27,844,892 (GRCm39) |
splice site |
probably null |
|
|
R5442:Trio
|
UTSW |
15 |
27,856,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5617:Trio
|
UTSW |
15 |
27,902,834 (GRCm39) |
missense |
probably benign |
|
|
R5778:Trio
|
UTSW |
15 |
27,856,250 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5986:Trio
|
UTSW |
15 |
27,852,019 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5990:Trio
|
UTSW |
15 |
27,891,545 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6011:Trio
|
UTSW |
15 |
27,735,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6063:Trio
|
UTSW |
15 |
27,891,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6166:Trio
|
UTSW |
15 |
27,818,157 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6187:Trio
|
UTSW |
15 |
27,744,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6387:Trio
|
UTSW |
15 |
27,752,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6402:Trio
|
UTSW |
15 |
27,902,997 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6478:Trio
|
UTSW |
15 |
27,856,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6528:Trio
|
UTSW |
15 |
27,805,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Trio
|
UTSW |
15 |
27,855,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6825:Trio
|
UTSW |
15 |
27,889,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6890:Trio
|
UTSW |
15 |
27,919,374 (GRCm39) |
unclassified |
probably benign |
|
|
R6945:Trio
|
UTSW |
15 |
27,824,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Trio
|
UTSW |
15 |
27,805,740 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7046:Trio
|
UTSW |
15 |
27,832,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Trio
|
UTSW |
15 |
27,749,885 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7075:Trio
|
UTSW |
15 |
27,898,086 (GRCm39) |
missense |
unknown |
|
|
R7094:Trio
|
UTSW |
15 |
27,891,534 (GRCm39) |
missense |
unknown |
|
|
R7123:Trio
|
UTSW |
15 |
27,742,399 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7130:Trio
|
UTSW |
15 |
27,742,399 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7214:Trio
|
UTSW |
15 |
27,871,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7292:Trio
|
UTSW |
15 |
27,828,437 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7293:Trio
|
UTSW |
15 |
27,871,375 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7352:Trio
|
UTSW |
15 |
27,732,962 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7426:Trio
|
UTSW |
15 |
27,856,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7451:Trio
|
UTSW |
15 |
27,747,999 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7558:Trio
|
UTSW |
15 |
27,831,480 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7578:Trio
|
UTSW |
15 |
27,855,025 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7596:Trio
|
UTSW |
15 |
27,749,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7604:Trio
|
UTSW |
15 |
27,736,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7609:Trio
|
UTSW |
15 |
27,912,728 (GRCm39) |
missense |
unknown |
|
|
R7767:Trio
|
UTSW |
15 |
27,889,504 (GRCm39) |
missense |
unknown |
|
|
R7784:Trio
|
UTSW |
15 |
27,764,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Trio
|
UTSW |
15 |
27,749,952 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7833:Trio
|
UTSW |
15 |
27,774,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Trio
|
UTSW |
15 |
27,805,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7879:Trio
|
UTSW |
15 |
27,852,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7989:Trio
|
UTSW |
15 |
27,773,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8022:Trio
|
UTSW |
15 |
27,749,952 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8050:Trio
|
UTSW |
15 |
27,891,540 (GRCm39) |
missense |
unknown |
|
|
R8217:Trio
|
UTSW |
15 |
27,819,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8280:Trio
|
UTSW |
15 |
27,902,996 (GRCm39) |
missense |
unknown |
|
|
R8283:Trio
|
UTSW |
15 |
27,756,628 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8300:Trio
|
UTSW |
15 |
27,855,108 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8321:Trio
|
UTSW |
15 |
27,881,412 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8477:Trio
|
UTSW |
15 |
27,774,038 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8479:Trio
|
UTSW |
15 |
27,901,286 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8682:Trio
|
UTSW |
15 |
27,905,278 (GRCm39) |
missense |
unknown |
|
|
R8688:Trio
|
UTSW |
15 |
27,748,324 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8708:Trio
|
UTSW |
15 |
27,732,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8709:Trio
|
UTSW |
15 |
27,919,323 (GRCm39) |
missense |
unknown |
|
|
R8713:Trio
|
UTSW |
15 |
27,744,037 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8798:Trio
|
UTSW |
15 |
27,851,923 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8812:Trio
|
UTSW |
15 |
27,905,311 (GRCm39) |
missense |
unknown |
|
|
R8816:Trio
|
UTSW |
15 |
27,741,357 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8828:Trio
|
UTSW |
15 |
27,741,150 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8987:Trio
|
UTSW |
15 |
27,732,773 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9051:Trio
|
UTSW |
15 |
27,732,770 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9069:Trio
|
UTSW |
15 |
27,852,097 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9075:Trio
|
UTSW |
15 |
27,774,022 (GRCm39) |
nonsense |
probably null |
|
|
R9079:Trio
|
UTSW |
15 |
27,733,023 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9139:Trio
|
UTSW |
15 |
27,749,922 (GRCm39) |
nonsense |
probably null |
|
|
R9494:Trio
|
UTSW |
15 |
27,846,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9680:Trio
|
UTSW |
15 |
27,744,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9720:Trio
|
UTSW |
15 |
27,847,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9726:Trio
|
UTSW |
15 |
27,912,752 (GRCm39) |
missense |
unknown |
|
|
X0024:Trio
|
UTSW |
15 |
27,765,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Trio
|
UTSW |
15 |
27,771,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGAATTCTTTGGCCTTCTGG -3'
(R):5'- AGAGGATCCTGACAGTGGTC -3'
Sequencing Primer
(F):5'- GGCTAACTCCTTGAAAGTAGTCC -3'
(R):5'- ATTAGGGATGTTTGCCAATGACG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation