Incidental Mutation 'R6020:Sox6'
ID |
478866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6020 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115085863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 659
(D659E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072804]
[ENSMUST00000106612]
[ENSMUST00000166207]
[ENSMUST00000166877]
[ENSMUST00000169129]
[ENSMUST00000205405]
[ENSMUST00000206034]
[ENSMUST00000206369]
|
AlphaFold |
P40645 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072804
AA Change: D700E
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: D700E
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 |
possibly damaging
Transcript: ENSMUST00000106612
AA Change: D658E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: D658E
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 |
possibly damaging
Transcript: ENSMUST00000166207
AA Change: D700E
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: D700E
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 |
possibly damaging
Transcript: ENSMUST00000166877
AA Change: D660E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: D660E
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 |
possibly damaging
Transcript: ENSMUST00000169129
AA Change: D660E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: D660E
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 |
possibly damaging
Transcript: ENSMUST00000205405
AA Change: D701E
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206034
AA Change: D659E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206369
AA Change: D701E
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
A |
11: 110,036,439 (GRCm39) |
V557F |
possibly damaging |
Het |
Abi3 |
A |
T |
11: 95,732,851 (GRCm39) |
L41* |
probably null |
Het |
Actn1 |
C |
A |
12: 80,221,229 (GRCm39) |
|
probably null |
Het |
Adamts15 |
G |
T |
9: 30,813,358 (GRCm39) |
R936S |
probably benign |
Het |
Angel2 |
T |
C |
1: 190,665,068 (GRCm39) |
S22P |
probably benign |
Het |
Ank2 |
T |
G |
3: 126,740,470 (GRCm39) |
|
probably benign |
Het |
Astn1 |
A |
G |
1: 158,337,563 (GRCm39) |
D423G |
probably damaging |
Het |
Casp9 |
A |
G |
4: 141,523,849 (GRCm39) |
D78G |
probably damaging |
Het |
Cbr4 |
A |
G |
8: 61,940,887 (GRCm39) |
D2G |
probably benign |
Het |
Ccdc8 |
T |
A |
7: 16,730,506 (GRCm39) |
L665H |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,105 (GRCm39) |
N1847I |
probably damaging |
Het |
Cnst |
T |
C |
1: 179,437,440 (GRCm39) |
W335R |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,832,671 (GRCm39) |
I130F |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,391,665 (GRCm39) |
A677T |
probably benign |
Het |
Dzip3 |
C |
A |
16: 48,772,205 (GRCm39) |
W488L |
probably damaging |
Het |
Ephb3 |
T |
G |
16: 21,040,763 (GRCm39) |
I637S |
probably damaging |
Het |
Etv3 |
A |
G |
3: 87,436,671 (GRCm39) |
D142G |
probably benign |
Het |
Fabp5 |
C |
T |
3: 10,081,149 (GRCm39) |
T126I |
probably benign |
Het |
Fam13b |
A |
C |
18: 34,627,827 (GRCm39) |
Y125D |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,822,471 (GRCm39) |
P6068Q |
probably damaging |
Het |
Gm11232 |
A |
G |
4: 71,674,905 (GRCm39) |
F199S |
possibly damaging |
Het |
Gm5493 |
A |
G |
17: 22,967,034 (GRCm39) |
K57E |
probably benign |
Het |
Gm7334 |
A |
G |
17: 51,006,265 (GRCm39) |
M184V |
probably benign |
Het |
Gm9894 |
T |
C |
13: 67,911,954 (GRCm39) |
|
noncoding transcript |
Het |
Gpd2 |
T |
A |
2: 57,254,525 (GRCm39) |
N674K |
probably benign |
Het |
H2-M10.6 |
A |
G |
17: 37,123,959 (GRCm39) |
Y141C |
probably damaging |
Het |
Heatr5a |
C |
T |
12: 51,931,110 (GRCm39) |
E1796K |
probably benign |
Het |
Hexim2 |
A |
G |
11: 103,029,118 (GRCm39) |
T57A |
probably benign |
Het |
Hrg |
A |
T |
16: 22,773,268 (GRCm39) |
N134Y |
probably damaging |
Het |
Hsd17b12 |
T |
C |
2: 93,864,322 (GRCm39) |
T262A |
probably damaging |
Het |
Irak3 |
G |
T |
10: 119,979,042 (GRCm39) |
P470T |
probably damaging |
Het |
Itgbl1 |
A |
T |
14: 124,083,977 (GRCm39) |
D285V |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,502,863 (GRCm39) |
V164E |
probably benign |
Het |
Klhdc7b |
T |
A |
15: 89,272,589 (GRCm39) |
M1157K |
probably damaging |
Het |
Lcor |
G |
A |
19: 41,571,986 (GRCm39) |
G247D |
possibly damaging |
Het |
Mdc1 |
G |
A |
17: 36,159,525 (GRCm39) |
G635D |
probably benign |
Het |
Mdc1 |
A |
G |
17: 36,168,464 (GRCm39) |
K1690R |
probably benign |
Het |
Mpp3 |
A |
T |
11: 101,909,365 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
G |
T |
5: 125,097,075 (GRCm39) |
H2285N |
probably benign |
Het |
Neb |
T |
A |
2: 52,147,839 (GRCm39) |
T2727S |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,483 (GRCm39) |
D234G |
possibly damaging |
Het |
Nlrp9c |
T |
C |
7: 26,084,150 (GRCm39) |
I476M |
probably benign |
Het |
Nrsn1 |
T |
G |
13: 25,437,355 (GRCm39) |
Q191P |
probably damaging |
Het |
Or14j10 |
A |
T |
17: 37,934,858 (GRCm39) |
S223T |
possibly damaging |
Het |
Or1e30 |
C |
T |
11: 73,678,378 (GRCm39) |
L205F |
probably benign |
Het |
Or51ag1 |
T |
A |
7: 103,156,006 (GRCm39) |
H49L |
probably benign |
Het |
Patl1 |
T |
G |
19: 11,914,718 (GRCm39) |
L623R |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,209,117 (GRCm39) |
I200T |
probably benign |
Het |
Pdzk1 |
A |
G |
3: 96,775,742 (GRCm39) |
D370G |
probably benign |
Het |
Pglyrp3 |
A |
T |
3: 91,938,841 (GRCm39) |
I339F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,945,679 (GRCm39) |
V2070A |
probably damaging |
Het |
Poln |
G |
A |
5: 34,266,775 (GRCm39) |
R461C |
probably damaging |
Het |
Prl2b1 |
C |
A |
13: 27,567,491 (GRCm39) |
V218L |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,263,428 (GRCm39) |
D55G |
probably damaging |
Het |
Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,692 (GRCm39) |
F152S |
probably damaging |
Het |
Sim2 |
T |
C |
16: 93,898,110 (GRCm39) |
S115P |
probably damaging |
Het |
Slc17a1 |
T |
A |
13: 24,059,593 (GRCm39) |
I108K |
possibly damaging |
Het |
Slc30a8 |
A |
G |
15: 52,189,054 (GRCm39) |
D223G |
probably damaging |
Het |
Slc39a4 |
A |
T |
15: 76,500,342 (GRCm39) |
N69K |
probably benign |
Het |
Slc51a |
T |
G |
16: 32,298,584 (GRCm39) |
T58P |
probably damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,261 (GRCm39) |
H448R |
probably benign |
Het |
Smc3 |
G |
A |
19: 53,613,594 (GRCm39) |
|
probably null |
Het |
Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
Tsr1 |
C |
T |
11: 74,791,119 (GRCm39) |
|
probably null |
Het |
Ttc12 |
T |
C |
9: 49,354,422 (GRCm39) |
K565E |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,452,768 (GRCm39) |
V386E |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,460,293 (GRCm39) |
|
probably null |
Het |
Usp5 |
C |
A |
6: 124,794,576 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
T |
C |
13: 23,284,105 (GRCm39) |
F263L |
probably benign |
Het |
Vmn2r88 |
T |
A |
14: 51,655,606 (GRCm39) |
L606* |
probably null |
Het |
Wee2 |
T |
A |
6: 40,426,554 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,519,159 (GRCm39) |
Y94H |
probably damaging |
Het |
Zfp385c |
G |
A |
11: 100,523,594 (GRCm39) |
P120L |
probably benign |
Het |
Zscan4-ps3 |
T |
C |
7: 11,344,228 (GRCm39) |
F62S |
probably 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 |
R1893:Sox6
|
UTSW |
7 |
115,143,803 (GRCm39) |
missense |
probably benign |
0.28 |
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 |
|
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'- AGTCATACCTTCCACGTGTCAC -3'
(R):5'- GTCTGGAAGGTGTCACCATC -3'
Sequencing Primer
(F):5'- TTCCACGTGTCACAACCC -3'
(R):5'- GAAGGTGTCACCATCCTTGTGAC -3'
|
Posted On |
2017-06-26 |