Incidental Mutation 'R4884:2700049A03Rik'
| ID |
375573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2700049A03Rik
|
| Ensembl Gene |
ENSMUSG00000034601 |
| Gene Name |
RIKEN cDNA 2700049A03 gene |
| Synonyms |
talpid3, Ta3 |
| MMRRC Submission |
041978-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4884 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
71183622-71290077 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71211321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 685
(E685V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045907]
[ENSMUST00000149564]
|
| AlphaFold |
E9PV87 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045907
AA Change: E685V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044701
Gene: ENSMUSG00000034601
AA Change: E685V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TALPID3
|
116 |
1351 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149564
AA Change: E685V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118956
Gene: ENSMUSG00000034601
AA Change: E685V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TALPID3
|
116 |
1349 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1812 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele die during organogenesis, lack cilia, and show randomized L-R patterning, face and neural tube defects, pericardial edema and hemorrhages. Mouse embryonic fibroblasts homozygous for a different null allele lack cilia and asymmetrical centriolar localization. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, other(2) Gene trapped(10) |
| Other mutations in this stock |
Total: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
C |
T |
8: 60,979,663 (GRCm39) |
P175L |
probably damaging |
Het |
| Acot7 |
G |
T |
4: 152,270,664 (GRCm39) |
|
probably benign |
Het |
| Adad1 |
T |
G |
3: 37,130,813 (GRCm39) |
F259V |
possibly damaging |
Het |
| Adora2a |
A |
G |
10: 75,161,879 (GRCm39) |
Y6C |
probably null |
Het |
| Ahnak |
A |
G |
19: 8,990,118 (GRCm39) |
|
probably benign |
Het |
| Ankar |
A |
T |
1: 72,737,966 (GRCm39) |
M72K |
probably damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,988,270 (GRCm39) |
K176R |
possibly damaging |
Het |
| Ap3m2 |
T |
C |
8: 23,293,997 (GRCm39) |
K18E |
probably damaging |
Het |
| Apol10b |
C |
T |
15: 77,473,006 (GRCm39) |
R16Q |
possibly damaging |
Het |
| Atp2b2 |
T |
A |
6: 113,819,147 (GRCm39) |
T49S |
possibly damaging |
Het |
| B3gntl1 |
T |
G |
11: 121,520,795 (GRCm39) |
Y206S |
possibly damaging |
Het |
| BC061237 |
G |
A |
14: 44,738,666 (GRCm39) |
E22K |
possibly damaging |
Het |
| Bmp1 |
A |
G |
14: 70,712,655 (GRCm39) |
V959A |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,263,056 (GRCm39) |
E169G |
probably damaging |
Het |
| Cfap20dc |
G |
A |
14: 8,578,394 (GRCm38) |
T116I |
probably damaging |
Het |
| Cfap65 |
T |
G |
1: 74,942,283 (GRCm39) |
E1757A |
possibly damaging |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,912 (GRCm39) |
I216N |
possibly damaging |
Het |
| Clstn2 |
T |
A |
9: 97,681,448 (GRCm39) |
D64V |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,194,197 (GRCm39) |
D851E |
possibly damaging |
Het |
| Coq9 |
C |
T |
8: 95,579,822 (GRCm39) |
P259L |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,216,183 (GRCm39) |
N836S |
probably benign |
Het |
| Cracd |
A |
T |
5: 76,996,682 (GRCm39) |
I47F |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,906,239 (GRCm39) |
K1588E |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,805,353 (GRCm39) |
W2055R |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,714,792 (GRCm39) |
M453K |
probably damaging |
Het |
| Dhx36 |
T |
G |
3: 62,391,681 (GRCm39) |
D555A |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,216,248 (GRCm39) |
Y1219N |
probably damaging |
Het |
| Dpy19l2 |
A |
T |
9: 24,539,476 (GRCm39) |
C492* |
probably null |
Het |
| Dusp22 |
A |
G |
13: 30,852,813 (GRCm39) |
N16S |
probably benign |
Het |
| Epha1 |
A |
G |
6: 42,337,668 (GRCm39) |
M805T |
probably damaging |
Het |
| Espl1 |
C |
T |
15: 102,232,505 (GRCm39) |
A2071V |
possibly damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,299,761 (GRCm39) |
D863V |
probably damaging |
Het |
| Fbxo7 |
T |
A |
10: 85,865,014 (GRCm39) |
Y106N |
probably damaging |
Het |
| Fhip1a |
A |
C |
3: 85,590,918 (GRCm39) |
C178G |
probably damaging |
Het |
| Fst |
A |
G |
13: 114,590,920 (GRCm39) |
V282A |
probably damaging |
Het |
| Gfra3 |
T |
A |
18: 34,844,304 (GRCm39) |
M79L |
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,155,240 (GRCm39) |
V409A |
probably damaging |
Het |
| Gm10799 |
T |
A |
2: 103,898,552 (GRCm39) |
D51V |
probably damaging |
Het |
| Gm572 |
C |
A |
4: 148,751,819 (GRCm39) |
T228N |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,911,211 (GRCm39) |
T643M |
probably damaging |
Het |
| Hdgfl2 |
C |
T |
17: 56,403,265 (GRCm39) |
R222C |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,990,000 (GRCm39) |
I125F |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,651,338 (GRCm39) |
S1153P |
possibly damaging |
Het |
| Insm2 |
T |
C |
12: 55,646,546 (GRCm39) |
S97P |
probably damaging |
Het |
| Iqca1 |
A |
G |
1: 90,067,759 (GRCm39) |
V164A |
probably benign |
Het |
| Kcna6 |
T |
C |
6: 126,715,689 (GRCm39) |
D400G |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,107,311 (GRCm39) |
Y122C |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,165 (GRCm39) |
Y148C |
probably damaging |
Het |
| Krtap31-1 |
G |
A |
11: 99,799,310 (GRCm39) |
C171Y |
unknown |
Het |
| Ldlrap1 |
C |
T |
4: 134,486,282 (GRCm39) |
R59Q |
probably benign |
Het |
| Ltb |
T |
C |
17: 35,414,234 (GRCm39) |
I3T |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,348,802 (GRCm39) |
I2477V |
probably benign |
Het |
| Mpdz |
A |
T |
4: 81,279,713 (GRCm39) |
I39N |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,072,537 (GRCm39) |
N610Y |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,448,731 (GRCm39) |
I1776T |
probably damaging |
Het |
| Myof |
T |
A |
19: 37,930,805 (GRCm39) |
E994V |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,510,366 (GRCm39) |
E553G |
possibly damaging |
Het |
| Mysm1 |
A |
T |
4: 94,847,185 (GRCm39) |
C504S |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,269,249 (GRCm39) |
H384Q |
probably benign |
Het |
| Net1 |
G |
A |
13: 3,934,252 (GRCm39) |
R482* |
probably null |
Het |
| Nit1 |
T |
C |
1: 171,171,263 (GRCm39) |
K193R |
probably null |
Het |
| Nlgn1 |
A |
G |
3: 25,966,838 (GRCm39) |
V205A |
probably damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,635,438 (GRCm39) |
I180F |
possibly damaging |
Het |
| Nup50l |
A |
T |
6: 96,141,793 (GRCm39) |
M417K |
probably damaging |
Het |
| Nup62 |
T |
A |
7: 44,478,289 (GRCm39) |
S101R |
probably damaging |
Het |
| Or13c7 |
T |
C |
4: 43,854,890 (GRCm39) |
S194P |
probably damaging |
Het |
| Or1l8 |
G |
T |
2: 36,818,024 (GRCm39) |
T34K |
possibly damaging |
Het |
| Or4c3 |
A |
G |
2: 89,851,987 (GRCm39) |
V141A |
probably benign |
Het |
| Or51b17 |
T |
A |
7: 103,542,862 (GRCm39) |
I27F |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,068 (GRCm39) |
I98N |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,034 (GRCm39) |
I205N |
probably benign |
Het |
| Or5b124 |
A |
T |
19: 13,611,391 (GRCm39) |
K305N |
probably benign |
Het |
| Or5p80 |
A |
T |
7: 108,229,819 (GRCm39) |
I207F |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,379,883 (GRCm39) |
I158F |
probably damaging |
Het |
| Pcbp4 |
A |
G |
9: 106,339,301 (GRCm39) |
T103A |
probably benign |
Het |
| Pcdha2 |
T |
A |
18: 37,073,953 (GRCm39) |
L528Q |
probably damaging |
Het |
| Pcdhga5 |
T |
C |
18: 37,827,680 (GRCm39) |
S43P |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,349,973 (GRCm39) |
N952K |
probably benign |
Het |
| Pla2r1 |
A |
G |
2: 60,365,328 (GRCm39) |
S81P |
probably damaging |
Het |
| Rabggtb |
A |
T |
3: 153,617,568 (GRCm39) |
D43E |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,424,774 (GRCm39) |
C43* |
probably null |
Het |
| Robo1 |
T |
A |
16: 72,701,639 (GRCm39) |
D168E |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,451,865 (GRCm39) |
*428R |
probably null |
Het |
| Scimp |
A |
G |
11: 70,688,865 (GRCm39) |
M49T |
unknown |
Het |
| Sema3e |
T |
A |
5: 14,275,579 (GRCm39) |
V228E |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,498,738 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
T |
13: 33,850,428 (GRCm39) |
D85V |
possibly damaging |
Het |
| Slc24a2 |
C |
T |
4: 86,909,745 (GRCm39) |
V658I |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,526,911 (GRCm39) |
I198T |
possibly damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,464 (GRCm39) |
V202M |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,121,189 (GRCm39) |
E174G |
probably damaging |
Het |
| Srgap2 |
C |
A |
1: 131,220,314 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
A |
T |
10: 9,688,085 (GRCm39) |
Y405* |
probably null |
Het |
| Thsd4 |
C |
T |
9: 59,895,320 (GRCm39) |
R710H |
probably benign |
Het |
| Trp53inp1 |
T |
A |
4: 11,165,130 (GRCm39) |
D51E |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,566,882 (GRCm39) |
D516G |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,937,266 (GRCm39) |
L775H |
probably damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,252,840 (GRCm39) |
V400A |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,932,182 (GRCm39) |
S430P |
probably damaging |
Het |
| Vmn1r9 |
T |
A |
6: 57,048,294 (GRCm39) |
M123K |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,384 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,390,924 (GRCm39) |
T746A |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,710,852 (GRCm39) |
Y2578* |
probably null |
Het |
| Wdr53 |
A |
T |
16: 32,075,796 (GRCm39) |
K334* |
probably null |
Het |
| Xpot |
G |
T |
10: 121,442,713 (GRCm39) |
H495Q |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,570 (GRCm39) |
T288A |
probably benign |
Het |
| Zfp277 |
T |
A |
12: 40,413,152 (GRCm39) |
E276V |
probably damaging |
Het |
| Zfp703 |
A |
G |
8: 27,468,729 (GRCm39) |
D131G |
probably benign |
Het |
| Zfp985 |
T |
A |
4: 147,667,801 (GRCm39) |
I223N |
probably benign |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,923,805 (GRCm39) |
V193A |
possibly damaging |
Het |
| Zscan20 |
A |
G |
4: 128,481,958 (GRCm39) |
I568T |
possibly damaging |
Het |
|
| Other mutations in 2700049A03Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:2700049A03Rik
|
APN |
12 |
71,213,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01107:2700049A03Rik
|
APN |
12 |
71,241,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01404:2700049A03Rik
|
APN |
12 |
71,211,152 (GRCm39) |
splice site |
probably null |
|
|
IGL01835:2700049A03Rik
|
APN |
12 |
71,213,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01835:2700049A03Rik
|
APN |
12 |
71,213,955 (GRCm39) |
nonsense |
probably null |
|
|
IGL02122:2700049A03Rik
|
APN |
12 |
71,217,299 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02140:2700049A03Rik
|
APN |
12 |
71,195,034 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02385:2700049A03Rik
|
APN |
12 |
71,201,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03181:2700049A03Rik
|
APN |
12 |
71,240,147 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03253:2700049A03Rik
|
APN |
12 |
71,187,657 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03278:2700049A03Rik
|
APN |
12 |
71,205,599 (GRCm39) |
splice site |
probably benign |
|
|
G4846:2700049A03Rik
|
UTSW |
12 |
71,184,683 (GRCm39) |
missense |
probably benign |
|
|
PIT1430001:2700049A03Rik
|
UTSW |
12 |
71,207,160 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4519001:2700049A03Rik
|
UTSW |
12 |
71,217,440 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0108:2700049A03Rik
|
UTSW |
12 |
71,224,692 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0165:2700049A03Rik
|
UTSW |
12 |
71,213,924 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0211:2700049A03Rik
|
UTSW |
12 |
71,262,870 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0211:2700049A03Rik
|
UTSW |
12 |
71,262,870 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0220:2700049A03Rik
|
UTSW |
12 |
71,195,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0352:2700049A03Rik
|
UTSW |
12 |
71,184,804 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0468:2700049A03Rik
|
UTSW |
12 |
71,240,084 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0508:2700049A03Rik
|
UTSW |
12 |
71,211,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0673:2700049A03Rik
|
UTSW |
12 |
71,224,642 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0840:2700049A03Rik
|
UTSW |
12 |
71,205,657 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0893:2700049A03Rik
|
UTSW |
12 |
71,266,082 (GRCm39) |
splice site |
probably benign |
|
|
R1244:2700049A03Rik
|
UTSW |
12 |
71,262,918 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1432:2700049A03Rik
|
UTSW |
12 |
71,217,361 (GRCm39) |
splice site |
probably null |
|
|
R1599:2700049A03Rik
|
UTSW |
12 |
71,197,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1732:2700049A03Rik
|
UTSW |
12 |
71,265,995 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1820:2700049A03Rik
|
UTSW |
12 |
71,197,018 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1939:2700049A03Rik
|
UTSW |
12 |
71,207,186 (GRCm39) |
splice site |
probably null |
|
|
R1998:2700049A03Rik
|
UTSW |
12 |
71,235,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2337:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2337:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R2340:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2340:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R2382:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2382:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R2384:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2384:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R2445:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2445:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R2449:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2449:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R2512:2700049A03Rik
|
UTSW |
12 |
71,219,945 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2872:2700049A03Rik
|
UTSW |
12 |
71,201,530 (GRCm39) |
splice site |
probably benign |
|
|
R3236:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3236:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3237:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3237:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3734:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3734:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3808:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3808:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3809:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3809:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3944:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3944:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3959:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3959:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3960:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R3960:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4593:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4593:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4595:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4595:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4596:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4596:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4600:2700049A03Rik
|
UTSW |
12 |
71,195,037 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4649:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4649:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4651:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4651:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4652:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4652:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4714:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4714:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4735:2700049A03Rik
|
UTSW |
12 |
71,262,897 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4810:2700049A03Rik
|
UTSW |
12 |
71,236,216 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4852:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4852:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4854:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4854:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4855:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4855:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4884:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4893:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4893:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4905:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4905:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4915:2700049A03Rik
|
UTSW |
12 |
71,236,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4919:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4919:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4959:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4959:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4989:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R4989:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5011:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5011:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5012:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5012:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5118:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5118:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5146:2700049A03Rik
|
UTSW |
12 |
71,289,799 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5163:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5163:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5188:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5188:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5189:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5189:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5189:2700049A03Rik
|
UTSW |
12 |
71,240,123 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5190:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5190:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5290:2700049A03Rik
|
UTSW |
12 |
71,235,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5344:2700049A03Rik
|
UTSW |
12 |
71,289,801 (GRCm39) |
missense |
probably benign |
|
|
R5502:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5502:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5503:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5503:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5619:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5619:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5667:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5667:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5669:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5669:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5671:2700049A03Rik
|
UTSW |
12 |
71,211,320 (GRCm39) |
nonsense |
probably null |
|
|
R5671:2700049A03Rik
|
UTSW |
12 |
71,211,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5725:2700049A03Rik
|
UTSW |
12 |
71,240,093 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5956:2700049A03Rik
|
UTSW |
12 |
71,203,893 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6051:2700049A03Rik
|
UTSW |
12 |
71,231,304 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6148:2700049A03Rik
|
UTSW |
12 |
71,234,200 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6158:2700049A03Rik
|
UTSW |
12 |
71,217,410 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6916:2700049A03Rik
|
UTSW |
12 |
71,211,318 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7129:2700049A03Rik
|
UTSW |
12 |
71,263,004 (GRCm39) |
splice site |
probably null |
|
|
R7168:2700049A03Rik
|
UTSW |
12 |
71,262,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7193:2700049A03Rik
|
UTSW |
12 |
71,265,963 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7200:2700049A03Rik
|
UTSW |
12 |
71,187,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7359:2700049A03Rik
|
UTSW |
12 |
71,236,348 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7488:2700049A03Rik
|
UTSW |
12 |
71,197,179 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7755:2700049A03Rik
|
UTSW |
12 |
71,236,187 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7757:2700049A03Rik
|
UTSW |
12 |
71,236,187 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7922:2700049A03Rik
|
UTSW |
12 |
71,211,180 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7966:2700049A03Rik
|
UTSW |
12 |
71,219,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8082:2700049A03Rik
|
UTSW |
12 |
71,188,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8311:2700049A03Rik
|
UTSW |
12 |
71,184,815 (GRCm39) |
unclassified |
probably benign |
|
|
R8408:2700049A03Rik
|
UTSW |
12 |
71,236,356 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8852:2700049A03Rik
|
UTSW |
12 |
71,231,197 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8860:2700049A03Rik
|
UTSW |
12 |
71,231,197 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9039:2700049A03Rik
|
UTSW |
12 |
71,213,849 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9281:2700049A03Rik
|
UTSW |
12 |
71,205,687 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9308:2700049A03Rik
|
UTSW |
12 |
71,231,233 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9385:2700049A03Rik
|
UTSW |
12 |
71,207,966 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9412:2700049A03Rik
|
UTSW |
12 |
71,235,457 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9643:2700049A03Rik
|
UTSW |
12 |
71,211,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9676:2700049A03Rik
|
UTSW |
12 |
71,207,905 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9776:2700049A03Rik
|
UTSW |
12 |
71,235,448 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9789:2700049A03Rik
|
UTSW |
12 |
71,231,357 (GRCm39) |
missense |
probably benign |
|
|
Z1177:2700049A03Rik
|
UTSW |
12 |
71,211,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACCTTTTATGTTTCCTAGGTGG -3'
(R):5'- CTGTTCCCTGGCAGATAACG -3'
Sequencing Primer
(F):5'- AACATGTTTTGCATTGGTAGGGCC -3'
(R):5'- TAACGGTACTGAAGCTCTGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation