Incidental Mutation 'R9036:Cntrl'
| ID |
687359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
068865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R9036 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35016071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 362
(D362E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028235]
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000156933]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028235
AA Change: D362E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: D362E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028237
AA Change: D362E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: D362E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113032
AA Change: D362E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: D362E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
|
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
|
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123884
|
| SMART Domains |
Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
400 |
N/A |
INTRINSIC |
|
coiled coil region
|
458 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156933
AA Change: D362E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: D362E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
T |
11: 54,227,840 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
A |
G |
5: 122,957,716 (GRCm39) |
L69P |
possibly damaging |
Het |
| Aoc1l3 |
CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC |
CCTAAATTTCC |
6: 48,965,074 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,259,055 (GRCm39) |
S681T |
probably benign |
Het |
| Arhgef19 |
A |
G |
4: 140,976,549 (GRCm39) |
D437G |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,019,089 (GRCm39) |
V576A |
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,073,012 (GRCm39) |
|
probably null |
Het |
| Atg10 |
T |
A |
13: 91,189,071 (GRCm39) |
T80S |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,117,419 (GRCm39) |
V233A |
possibly damaging |
Het |
| Bicdl2 |
C |
T |
17: 23,887,158 (GRCm39) |
R482C |
probably damaging |
Het |
| Ccdc63 |
G |
A |
5: 122,247,346 (GRCm39) |
P500S |
probably benign |
Het |
| Ccn2 |
A |
T |
10: 24,472,647 (GRCm39) |
T186S |
probably benign |
Het |
| Ccng1 |
A |
T |
11: 40,643,078 (GRCm39) |
I123K |
possibly damaging |
Het |
| Ccp110 |
C |
T |
7: 118,324,680 (GRCm39) |
S734F |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,139,614 (GRCm39) |
|
probably null |
Het |
| Cenpw |
G |
A |
10: 30,074,523 (GRCm39) |
T58I |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 145,850,839 (GRCm39) |
L326I |
probably benign |
Het |
| Cgn |
T |
A |
3: 94,674,551 (GRCm39) |
Q862L |
possibly damaging |
Het |
| Col22a1 |
C |
T |
15: 71,762,431 (GRCm39) |
G76E |
probably damaging |
Het |
| Cplane1 |
C |
T |
15: 8,252,622 (GRCm39) |
T1948I |
possibly damaging |
Het |
| Crip2 |
A |
G |
12: 113,108,030 (GRCm39) |
T140A |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,950,976 (GRCm39) |
V229A |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,523 (GRCm39) |
F439L |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,606,186 (GRCm39) |
T2419A |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,051,495 (GRCm39) |
F3147I |
probably damaging |
Het |
| Dynlt1f |
T |
C |
17: 6,916,707 (GRCm39) |
T101A |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,927,601 (GRCm39) |
H4790R |
probably benign |
Het |
| Efcab8 |
G |
A |
2: 153,622,888 (GRCm39) |
S19N |
|
Het |
| Eno2 |
A |
T |
6: 124,740,091 (GRCm39) |
I315K |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,468,886 (GRCm39) |
T1113A |
unknown |
Het |
| Fam217a |
A |
T |
13: 35,095,007 (GRCm39) |
Y251N |
possibly damaging |
Het |
| Fcrlb |
A |
T |
1: 170,734,938 (GRCm39) |
H396Q |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,614,064 (GRCm39) |
V693A |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 92,046,447 (GRCm39) |
K1397* |
probably null |
Het |
| Frem1 |
C |
A |
4: 82,831,785 (GRCm39) |
L2010F |
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,661 (GRCm39) |
Y581C |
probably damaging |
Het |
| Gcc2 |
T |
C |
10: 58,106,411 (GRCm39) |
V549A |
possibly damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,042 (GRCm39) |
V113I |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,245,747 (GRCm39) |
I433V |
probably benign |
Het |
| Gm3336 |
A |
G |
8: 71,173,069 (GRCm39) |
D27G |
unknown |
Het |
| Gm6133 |
T |
A |
18: 78,393,146 (GRCm39) |
Y47N |
probably damaging |
Het |
| Gm8257 |
A |
T |
14: 44,893,877 (GRCm39) |
N62K |
probably benign |
Het |
| Gpr18 |
T |
G |
14: 122,149,667 (GRCm39) |
R119S |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,685,397 (GRCm39) |
I505F |
possibly damaging |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,428 (GRCm39) |
E215G |
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,527,339 (GRCm39) |
C100S |
probably benign |
Het |
| Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
| Lrrc49 |
A |
T |
9: 60,495,150 (GRCm39) |
C694S |
probably benign |
Het |
| Map7d1 |
A |
T |
4: 126,133,911 (GRCm39) |
I217N |
probably damaging |
Het |
| Mbnl2 |
A |
T |
14: 120,562,712 (GRCm39) |
Q21L |
probably benign |
Het |
| Mfsd10 |
A |
T |
5: 34,792,751 (GRCm39) |
F220Y |
probably benign |
Het |
| Mmp1b |
A |
C |
9: 7,387,909 (GRCm39) |
N28K |
probably null |
Het |
| Muc16 |
A |
T |
9: 18,555,975 (GRCm39) |
N3439K |
unknown |
Het |
| Myef2l |
C |
A |
3: 10,157,341 (GRCm39) |
Q495K |
unknown |
Het |
| Myo9a |
A |
T |
9: 59,687,584 (GRCm39) |
K230* |
probably null |
Het |
| Mysm1 |
T |
C |
4: 94,835,294 (GRCm39) |
T790A |
probably benign |
Het |
| Nell2 |
C |
T |
15: 95,194,117 (GRCm39) |
C532Y |
probably damaging |
Het |
| Nmnat1 |
T |
A |
4: 149,553,482 (GRCm39) |
N210I |
probably damaging |
Het |
| Or14j7 |
T |
G |
17: 38,235,168 (GRCm39) |
V237G |
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,443,295 (GRCm39) |
L185* |
probably null |
Het |
| Or4k41 |
T |
C |
2: 111,280,343 (GRCm39) |
I286T |
probably damaging |
Het |
| Or7g16 |
G |
A |
9: 18,727,569 (GRCm39) |
T7I |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,281 (GRCm39) |
D90G |
probably damaging |
Het |
| Pacs2 |
A |
T |
12: 113,026,104 (GRCm39) |
I554F |
possibly damaging |
Het |
| Padi3 |
C |
A |
4: 140,523,004 (GRCm39) |
V323L |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,215,090 (GRCm39) |
P1484L |
|
Het |
| Pogk |
A |
G |
1: 166,227,254 (GRCm39) |
I299T |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,461,928 (GRCm39) |
I1164V |
probably benign |
Het |
| Raph1 |
A |
G |
1: 60,542,124 (GRCm39) |
M278T |
unknown |
Het |
| Rasa3 |
T |
A |
8: 13,645,851 (GRCm39) |
Q163L |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,660,911 (GRCm39) |
K884I |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,691 (GRCm39) |
V716A |
probably benign |
Het |
| Sag |
A |
G |
1: 87,749,054 (GRCm39) |
K151R |
probably damaging |
Het |
| Scara5 |
G |
A |
14: 66,000,197 (GRCm39) |
V456M |
probably benign |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc4a1 |
A |
T |
11: 102,243,279 (GRCm39) |
V784D |
probably damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,569 (GRCm39) |
I64T |
possibly damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,708 (GRCm39) |
I80T |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,491 (GRCm39) |
D157V |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,418,249 (GRCm39) |
E660G |
|
Het |
| Trappc3l |
A |
G |
10: 33,932,786 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
T |
C |
3: 58,323,497 (GRCm39) |
S130P |
probably benign |
Het |
| Tti2 |
T |
A |
8: 31,645,814 (GRCm39) |
I376N |
probably damaging |
Het |
| Ttll2 |
C |
A |
17: 7,619,054 (GRCm39) |
W291L |
probably benign |
Het |
| Ttll3 |
G |
A |
6: 113,376,657 (GRCm39) |
V345I |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,565,046 (GRCm39) |
Y28394H |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,832,201 (GRCm39) |
Y684C |
probably damaging |
Het |
| Vdr |
A |
G |
15: 97,765,089 (GRCm39) |
S217P |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,447,580 (GRCm39) |
L105P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,464,206 (GRCm39) |
I533T |
probably damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,248,059 (GRCm39) |
E404G |
probably benign |
Het |
| Zfp106 |
T |
A |
2: 120,369,906 (GRCm39) |
I62F |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,815,562 (GRCm39) |
F796Y |
probably damaging |
Het |
|
| Other mutations in Cntrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cntrl
|
APN |
2 |
35,027,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL00478:Cntrl
|
APN |
2 |
35,050,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01460:Cntrl
|
APN |
2 |
35,055,856 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01556:Cntrl
|
APN |
2 |
35,063,071 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02155:Cntrl
|
APN |
2 |
35,050,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL02419:Cntrl
|
APN |
2 |
35,024,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4480001:Cntrl
|
UTSW |
2 |
35,045,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0179:Cntrl
|
UTSW |
2 |
35,057,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Cntrl
|
UTSW |
2 |
35,041,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0471:Cntrl
|
UTSW |
2 |
35,017,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0755:Cntrl
|
UTSW |
2 |
35,035,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Cntrl
|
UTSW |
2 |
35,061,078 (GRCm39) |
missense |
probably benign |
|
|
R0781:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0791:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0792:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0801:Cntrl
|
UTSW |
2 |
35,065,107 (GRCm39) |
splice site |
probably benign |
|
|
R1067:Cntrl
|
UTSW |
2 |
35,039,034 (GRCm39) |
unclassified |
probably benign |
|
|
R1110:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1117:Cntrl
|
UTSW |
2 |
35,017,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Cntrl
|
UTSW |
2 |
35,012,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1472:Cntrl
|
UTSW |
2 |
35,059,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1522:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1702:Cntrl
|
UTSW |
2 |
35,061,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1762:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1785:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1786:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1812:Cntrl
|
UTSW |
2 |
35,039,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1854:Cntrl
|
UTSW |
2 |
35,012,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Cntrl
|
UTSW |
2 |
35,008,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1868:Cntrl
|
UTSW |
2 |
35,019,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1914:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1915:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2118:Cntrl
|
UTSW |
2 |
35,051,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2140:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2142:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2203:Cntrl
|
UTSW |
2 |
35,033,749 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2300:Cntrl
|
UTSW |
2 |
35,017,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2349:Cntrl
|
UTSW |
2 |
35,066,263 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2374:Cntrl
|
UTSW |
2 |
35,043,288 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3429:Cntrl
|
UTSW |
2 |
35,035,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Cntrl
|
UTSW |
2 |
35,060,492 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3911:Cntrl
|
UTSW |
2 |
35,010,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:Cntrl
|
UTSW |
2 |
35,019,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4081:Cntrl
|
UTSW |
2 |
35,065,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Cntrl
|
UTSW |
2 |
35,051,938 (GRCm39) |
splice site |
probably benign |
|
|
R4516:Cntrl
|
UTSW |
2 |
35,017,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4518:Cntrl
|
UTSW |
2 |
35,038,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Cntrl
|
UTSW |
2 |
35,063,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Cntrl
|
UTSW |
2 |
35,039,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4753:Cntrl
|
UTSW |
2 |
35,043,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4763:Cntrl
|
UTSW |
2 |
35,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5168:Cntrl
|
UTSW |
2 |
35,047,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Cntrl
|
UTSW |
2 |
35,024,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Cntrl
|
UTSW |
2 |
35,038,911 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5947:Cntrl
|
UTSW |
2 |
35,006,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6147:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6214:Cntrl
|
UTSW |
2 |
35,019,646 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6267:Cntrl
|
UTSW |
2 |
35,019,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Cntrl
|
UTSW |
2 |
35,018,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6445:Cntrl
|
UTSW |
2 |
35,052,860 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6487:Cntrl
|
UTSW |
2 |
35,012,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6497:Cntrl
|
UTSW |
2 |
35,025,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6782:Cntrl
|
UTSW |
2 |
35,060,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6815:Cntrl
|
UTSW |
2 |
35,039,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Cntrl
|
UTSW |
2 |
35,019,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6858:Cntrl
|
UTSW |
2 |
35,052,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6965:Cntrl
|
UTSW |
2 |
35,052,845 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6970:Cntrl
|
UTSW |
2 |
35,008,149 (GRCm39) |
missense |
probably benign |
|
|
R7085:Cntrl
|
UTSW |
2 |
35,055,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Cntrl
|
UTSW |
2 |
35,055,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7213:Cntrl
|
UTSW |
2 |
35,025,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7221:Cntrl
|
UTSW |
2 |
35,041,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7389:Cntrl
|
UTSW |
2 |
35,017,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7414:Cntrl
|
UTSW |
2 |
35,055,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7427:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7453:Cntrl
|
UTSW |
2 |
35,045,421 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Cntrl
|
UTSW |
2 |
35,006,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Cntrl
|
UTSW |
2 |
35,001,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Cntrl
|
UTSW |
2 |
35,060,592 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7919:Cntrl
|
UTSW |
2 |
35,017,413 (GRCm39) |
missense |
probably benign |
|
|
R8314:Cntrl
|
UTSW |
2 |
35,065,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Cntrl
|
UTSW |
2 |
35,016,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Cntrl
|
UTSW |
2 |
35,038,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Cntrl
|
UTSW |
2 |
35,023,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Cntrl
|
UTSW |
2 |
35,003,351 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8960:Cntrl
|
UTSW |
2 |
35,052,053 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9617:Cntrl
|
UTSW |
2 |
35,035,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9621:Cntrl
|
UTSW |
2 |
35,050,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF007:Cntrl
|
UTSW |
2 |
35,060,512 (GRCm39) |
missense |
probably benign |
|
|
RF016:Cntrl
|
UTSW |
2 |
35,009,998 (GRCm39) |
missense |
probably benign |
|
|
RF017:Cntrl
|
UTSW |
2 |
35,065,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0024:Cntrl
|
UTSW |
2 |
35,037,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Cntrl
|
UTSW |
2 |
35,039,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0027:Cntrl
|
UTSW |
2 |
35,047,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Cntrl
|
UTSW |
2 |
35,037,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGAAATGGCATATCAGAGG -3'
(R):5'- GCCCTCCTCTACACATATGAGC -3'
Sequencing Primer
(F):5'- GACCTCTTCTGAAATGATAAGTGTG -3'
(R):5'- CCTCTACACATATGAGCACAAATATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation