Incidental Mutation 'R1893:Sox6'
| ID |
211703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox6
|
| Ensembl Gene |
ENSMUSG00000051910 |
| Gene Name |
SRY (sex determining region Y)-box 6 |
| Synonyms |
|
| MMRRC Submission |
039913-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1893 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115143803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 405
(N405I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072804]
[ENSMUST00000106612]
[ENSMUST00000166207]
[ENSMUST00000166877]
[ENSMUST00000169129]
[ENSMUST00000205405]
[ENSMUST00000206369]
[ENSMUST00000206034]
|
| AlphaFold |
P40645 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072804
AA Change: N446I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: N446I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
184 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
517 |
N/A |
INTRINSIC |
|
HMG
|
619 |
689 |
1.5e-25 |
SMART |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106612
AA Change: N404I
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: N404I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
184 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
HMG
|
577 |
647 |
1.5e-25 |
SMART |
|
low complexity region
|
755 |
767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166207
AA Change: N446I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: N446I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
184 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
517 |
N/A |
INTRINSIC |
|
HMG
|
619 |
689 |
1.5e-25 |
SMART |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166877
AA Change: N406I
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: N406I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
184 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
477 |
N/A |
INTRINSIC |
|
HMG
|
579 |
649 |
1.5e-25 |
SMART |
|
low complexity region
|
757 |
769 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169129
AA Change: N406I
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: N406I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
184 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
477 |
N/A |
INTRINSIC |
|
HMG
|
579 |
649 |
1.5e-25 |
SMART |
|
low complexity region
|
757 |
769 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205405
AA Change: N447I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206369
AA Change: N447I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206034
AA Change: N405I
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
| Meta Mutation Damage Score |
0.0717 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
| Validation Efficiency |
99% (99/100) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a family of transcriptional regulators containing high mobility group (HMG) DNA-binding domains. Function of the encoded protein is important for proper cardiac and skeletal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for null mutations exhibit cardioskeletal myopathy, cardiac blockage, delayed growth, and early postnatal lethality. [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 |
|---|
| 2210408I21Rik |
T |
C |
13: 77,415,928 (GRCm39) |
Y674H |
possibly damaging |
Het |
| Aars2 |
G |
A |
17: 45,825,725 (GRCm39) |
R347Q |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,939,776 (GRCm39) |
M293L |
possibly damaging |
Het |
| Abcb7 |
A |
T |
X: 103,386,142 (GRCm39) |
H97Q |
probably damaging |
Het |
| Aldh1l2 |
G |
T |
10: 83,328,400 (GRCm39) |
N772K |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,622,305 (GRCm39) |
L457Q |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,407,605 (GRCm39) |
I2164N |
probably damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,894 (GRCm39) |
T182A |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,208,446 (GRCm39) |
E833G |
possibly damaging |
Het |
| Ccdc102a |
G |
A |
8: 95,640,171 (GRCm39) |
T41M |
probably damaging |
Het |
| Cimap1c |
A |
G |
9: 56,756,498 (GRCm39) |
Y173H |
probably benign |
Het |
| Clec2h |
T |
C |
6: 128,647,795 (GRCm39) |
V48A |
probably benign |
Het |
| Cpb2 |
G |
A |
14: 75,493,403 (GRCm39) |
V27I |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,837,495 (GRCm39) |
H1201R |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,336,807 (GRCm39) |
V52A |
probably damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,183,864 (GRCm39) |
N223K |
probably benign |
Het |
| Cyp7b1 |
G |
A |
3: 18,150,731 (GRCm39) |
S336L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,831,381 (GRCm39) |
V803A |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,957,794 (GRCm39) |
T2745S |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,515,847 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,388,762 (GRCm39) |
S829P |
probably damaging |
Het |
| Fads3 |
C |
A |
19: 10,033,868 (GRCm39) |
H418N |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,476,893 (GRCm39) |
S1980P |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,844 (GRCm39) |
E198G |
possibly damaging |
Het |
| Fgl2 |
G |
A |
5: 21,580,669 (GRCm39) |
R337H |
probably benign |
Het |
| Gbp2 |
G |
T |
3: 142,335,933 (GRCm39) |
|
probably benign |
Het |
| Gja10 |
G |
A |
4: 32,601,541 (GRCm39) |
S281L |
probably benign |
Het |
| Gm5422 |
G |
A |
10: 31,125,609 (GRCm39) |
|
noncoding transcript |
Het |
| Gmpr |
T |
A |
13: 45,674,423 (GRCm39) |
D129E |
possibly damaging |
Het |
| Gtf3c4 |
C |
T |
2: 28,724,374 (GRCm39) |
V453I |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,648,140 (GRCm39) |
V111A |
probably benign |
Het |
| Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
| Hpn |
T |
A |
7: 30,798,773 (GRCm39) |
D103V |
probably damaging |
Het |
| Ipcef1 |
G |
A |
10: 6,850,680 (GRCm39) |
R304W |
probably damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,652,245 (GRCm39) |
D52G |
probably damaging |
Het |
| Klhdc7b |
C |
T |
15: 89,271,898 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
A |
T |
14: 96,477,642 (GRCm39) |
|
probably null |
Het |
| Lrrn1 |
A |
T |
6: 107,545,083 (GRCm39) |
I294F |
possibly damaging |
Het |
| Map3k1 |
A |
T |
13: 111,904,567 (GRCm39) |
F406I |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,040,717 (GRCm39) |
V579E |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
| Mdga1 |
A |
T |
17: 30,068,200 (GRCm39) |
Y305N |
probably damaging |
Het |
| Mgl2 |
T |
A |
11: 70,024,993 (GRCm39) |
|
probably null |
Het |
| Mnx1 |
C |
T |
5: 29,682,828 (GRCm39) |
G149D |
unknown |
Het |
| Mtbp |
T |
A |
15: 55,421,064 (GRCm39) |
S17T |
probably benign |
Het |
| Neu3 |
T |
C |
7: 99,472,627 (GRCm39) |
T37A |
possibly damaging |
Het |
| Nr1i3 |
T |
C |
1: 171,044,792 (GRCm39) |
|
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,983,747 (GRCm39) |
K278* |
probably null |
Het |
| Or10g6 |
A |
T |
9: 39,934,270 (GRCm39) |
I194F |
possibly damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,734 (GRCm39) |
N43S |
probably damaging |
Het |
| Or9s18 |
T |
A |
13: 65,300,806 (GRCm39) |
M256K |
possibly damaging |
Het |
| Osr2 |
A |
G |
15: 35,300,608 (GRCm39) |
T55A |
possibly damaging |
Het |
| Palld |
A |
G |
8: 61,969,655 (GRCm39) |
V981A |
probably damaging |
Het |
| Pbx1 |
A |
T |
1: 168,030,979 (GRCm39) |
M213K |
possibly damaging |
Het |
| Pcdhb12 |
C |
A |
18: 37,570,136 (GRCm39) |
H427Q |
probably benign |
Het |
| Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
| Phaf1 |
G |
T |
8: 105,973,133 (GRCm39) |
V248F |
probably damaging |
Het |
| Polm |
T |
C |
11: 5,785,574 (GRCm39) |
T162A |
possibly damaging |
Het |
| Prox1 |
A |
G |
1: 189,892,715 (GRCm39) |
|
probably benign |
Het |
| Ptpn7 |
A |
T |
1: 135,062,641 (GRCm39) |
T127S |
probably benign |
Het |
| Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
| Rab21 |
T |
C |
10: 115,126,805 (GRCm39) |
T181A |
probably benign |
Het |
| Rab38 |
A |
T |
7: 88,139,924 (GRCm39) |
T198S |
probably benign |
Het |
| Rnase4 |
C |
G |
14: 51,342,395 (GRCm39) |
Q40E |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,307,274 (GRCm39) |
W645R |
probably damaging |
Het |
| Rnf8 |
A |
G |
17: 29,840,524 (GRCm39) |
I51M |
probably damaging |
Het |
| Sbpl |
T |
A |
17: 24,172,241 (GRCm39) |
D226V |
unknown |
Het |
| Sdf4 |
T |
G |
4: 156,085,205 (GRCm39) |
I180S |
probably benign |
Het |
| Simc1 |
A |
G |
13: 54,687,528 (GRCm39) |
K99R |
probably damaging |
Het |
| Slc2a4 |
T |
C |
11: 69,837,398 (GRCm39) |
Q49R |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,780,342 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
C |
A |
1: 12,964,696 (GRCm39) |
C527F |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,256,687 (GRCm39) |
P354L |
probably benign |
Het |
| Spi1 |
A |
G |
2: 90,944,702 (GRCm39) |
D149G |
probably benign |
Het |
| Sptan1 |
T |
A |
2: 29,910,472 (GRCm39) |
D1812E |
probably damaging |
Het |
| Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
| Sult2a6 |
T |
C |
7: 13,959,814 (GRCm39) |
T240A |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,227,055 (GRCm39) |
S1247G |
probably benign |
Het |
| Taf4 |
T |
C |
2: 179,574,823 (GRCm39) |
D594G |
probably damaging |
Het |
| Tap1 |
T |
G |
17: 34,413,915 (GRCm39) |
D643E |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,894 (GRCm39) |
N67S |
probably benign |
Het |
| Tlr6 |
A |
G |
5: 65,110,556 (GRCm39) |
F784L |
probably damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,868,306 (GRCm39) |
V202A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,193 (GRCm39) |
V82A |
probably benign |
Het |
| Ube2o |
C |
T |
11: 116,439,661 (GRCm39) |
V170I |
possibly damaging |
Het |
| Ube2q2l |
A |
G |
6: 136,378,825 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn1r177 |
G |
A |
7: 23,565,573 (GRCm39) |
T101I |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,883,867 (GRCm39) |
Y79* |
probably null |
Het |
| Wdr35 |
A |
C |
12: 9,035,994 (GRCm39) |
Y255S |
probably benign |
Het |
| Zfp507 |
A |
T |
7: 35,502,052 (GRCm39) |
|
probably benign |
Het |
| Zfp688 |
G |
A |
7: 127,018,409 (GRCm39) |
R239C |
probably damaging |
Het |
| Zfp74 |
T |
A |
7: 29,635,470 (GRCm39) |
|
probably null |
Het |
| Zfp932 |
A |
G |
5: 110,157,069 (GRCm39) |
N223D |
possibly damaging |
Het |
|
| Other mutations in Sox6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Sox6
|
APN |
7 |
115,076,441 (GRCm39) |
missense |
probably benign |
|
|
IGL00957:Sox6
|
APN |
7 |
115,376,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Sox6
|
APN |
7 |
115,076,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Sox6
|
APN |
7 |
115,149,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Sox6
|
APN |
7 |
115,149,274 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02410:Sox6
|
APN |
7 |
115,085,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02736:Sox6
|
APN |
7 |
115,179,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02747:Sox6
|
APN |
7 |
115,088,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Sox6
|
APN |
7 |
115,140,884 (GRCm39) |
missense |
probably benign |
|
|
PIT4480001:Sox6
|
UTSW |
7 |
115,196,744 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0458:Sox6
|
UTSW |
7 |
115,089,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Sox6
|
UTSW |
7 |
115,085,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Sox6
|
UTSW |
7 |
115,178,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1220:Sox6
|
UTSW |
7 |
115,261,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Sox6
|
UTSW |
7 |
115,300,926 (GRCm39) |
splice site |
probably benign |
|
|
R1547:Sox6
|
UTSW |
7 |
115,300,957 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1570:Sox6
|
UTSW |
7 |
115,376,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Sox6
|
UTSW |
7 |
115,400,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1704:Sox6
|
UTSW |
7 |
115,076,183 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1754:Sox6
|
UTSW |
7 |
115,076,290 (GRCm39) |
missense |
probably benign |
|
|
R1833:Sox6
|
UTSW |
7 |
115,376,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Sox6
|
UTSW |
7 |
115,258,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2386:Sox6
|
UTSW |
7 |
115,196,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2431:Sox6
|
UTSW |
7 |
115,149,242 (GRCm39) |
splice site |
probably null |
|
|
R4303:Sox6
|
UTSW |
7 |
115,143,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4319:Sox6
|
UTSW |
7 |
115,179,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4320:Sox6
|
UTSW |
7 |
115,179,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4321:Sox6
|
UTSW |
7 |
115,179,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4323:Sox6
|
UTSW |
7 |
115,179,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4335:Sox6
|
UTSW |
7 |
115,111,959 (GRCm39) |
missense |
probably benign |
|
|
R4567:Sox6
|
UTSW |
7 |
115,261,557 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4776:Sox6
|
UTSW |
7 |
115,140,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Sox6
|
UTSW |
7 |
115,085,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Sox6
|
UTSW |
7 |
115,076,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Sox6
|
UTSW |
7 |
115,076,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Sox6
|
UTSW |
7 |
115,376,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Sox6
|
UTSW |
7 |
115,149,386 (GRCm39) |
nonsense |
probably null |
|
|
R5454:Sox6
|
UTSW |
7 |
115,301,008 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5663:Sox6
|
UTSW |
7 |
115,149,289 (GRCm39) |
missense |
probably benign |
|
|
R5685:Sox6
|
UTSW |
7 |
115,178,392 (GRCm39) |
splice site |
probably null |
|
|
R5734:Sox6
|
UTSW |
7 |
115,140,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6020:Sox6
|
UTSW |
7 |
115,085,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6211:Sox6
|
UTSW |
7 |
115,400,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Sox6
|
UTSW |
7 |
115,076,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6549:Sox6
|
UTSW |
7 |
115,085,927 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6576:Sox6
|
UTSW |
7 |
115,300,937 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6680:Sox6
|
UTSW |
7 |
115,076,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6709:Sox6
|
UTSW |
7 |
115,301,024 (GRCm39) |
splice site |
probably null |
|
|
R6747:Sox6
|
UTSW |
7 |
115,140,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Sox6
|
UTSW |
7 |
115,261,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7233:Sox6
|
UTSW |
7 |
115,089,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7423:Sox6
|
UTSW |
7 |
115,149,258 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7455:Sox6
|
UTSW |
7 |
115,088,904 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7522:Sox6
|
UTSW |
7 |
115,400,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Sox6
|
UTSW |
7 |
115,376,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7852:Sox6
|
UTSW |
7 |
115,400,839 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7936:Sox6
|
UTSW |
7 |
115,143,830 (GRCm39) |
missense |
probably benign |
|
|
R8278:Sox6
|
UTSW |
7 |
115,076,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8335:Sox6
|
UTSW |
7 |
115,300,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Sox6
|
UTSW |
7 |
115,141,033 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8682:Sox6
|
UTSW |
7 |
115,076,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Sox6
|
UTSW |
7 |
115,261,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8712:Sox6
|
UTSW |
7 |
115,196,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8972:Sox6
|
UTSW |
7 |
115,076,218 (GRCm39) |
nonsense |
probably null |
|
|
R9297:Sox6
|
UTSW |
7 |
115,261,557 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9318:Sox6
|
UTSW |
7 |
115,261,557 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9517:Sox6
|
UTSW |
7 |
115,111,970 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9688:Sox6
|
UTSW |
7 |
115,076,225 (GRCm39) |
missense |
probably benign |
|
|
X0061:Sox6
|
UTSW |
7 |
115,076,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:Sox6
|
UTSW |
7 |
115,149,343 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGCTTCAGTGGGAACTG -3'
(R):5'- ACATGGCATTGTCTCGGAGG -3'
Sequencing Primer
(F):5'- TTCAGTGGGAACTGCATCGC -3'
(R):5'- GCATTGTCTCGGAGGTGTAAAATAAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation