Incidental Mutation 'IGL02792:Sox6'
ID |
359780 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02792
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 115140884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 532
(M532I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072804]
[ENSMUST00000106612]
[ENSMUST00000166207]
[ENSMUST00000166877]
[ENSMUST00000169129]
[ENSMUST00000205405]
[ENSMUST00000206034]
[ENSMUST00000206369]
|
AlphaFold |
P40645 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072804
AA Change: M531I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: M531I
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: M489I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: M489I
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: M531I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: M531I
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: M491I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: M491I
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: M491I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: M491I
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: M532I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206034
AA Change: M490I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206369
AA Change: M532I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206775
|
Coding Region Coverage |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
G |
A |
17: 48,401,107 (GRCm39) |
V131M |
probably benign |
Het |
Abca6 |
A |
T |
11: 110,079,507 (GRCm39) |
C1216S |
probably damaging |
Het |
Acly |
T |
C |
11: 100,369,236 (GRCm39) |
K1018E |
probably damaging |
Het |
Acsl5 |
G |
A |
19: 55,282,163 (GRCm39) |
|
probably null |
Het |
Adgrb1 |
C |
A |
15: 74,419,471 (GRCm39) |
L771I |
probably damaging |
Het |
Adh7 |
A |
T |
3: 137,929,498 (GRCm39) |
K89I |
probably damaging |
Het |
Adora2b |
A |
T |
11: 62,156,309 (GRCm39) |
I253F |
possibly damaging |
Het |
Akna |
G |
A |
4: 63,295,943 (GRCm39) |
P975S |
possibly damaging |
Het |
Alg9 |
T |
C |
9: 50,754,048 (GRCm39) |
L576P |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,761,218 (GRCm39) |
E1023G |
possibly damaging |
Het |
Astn2 |
A |
T |
4: 65,563,058 (GRCm39) |
S908T |
probably benign |
Het |
Atp1a4 |
C |
T |
1: 172,054,866 (GRCm39) |
|
probably null |
Het |
Cabin1 |
T |
C |
10: 75,582,573 (GRCm39) |
Y281C |
probably damaging |
Het |
Cdc42bpb |
G |
T |
12: 111,265,995 (GRCm39) |
F1312L |
probably benign |
Het |
Cfap65 |
A |
C |
1: 74,966,337 (GRCm39) |
F330C |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,233,820 (GRCm39) |
P689S |
unknown |
Het |
Col4a3 |
A |
T |
1: 82,696,524 (GRCm39) |
K1643N |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,598,460 (GRCm39) |
V1875D |
possibly damaging |
Het |
Eftud2 |
A |
G |
11: 102,761,082 (GRCm39) |
|
probably benign |
Het |
Ergic3 |
C |
A |
2: 155,859,770 (GRCm39) |
T357K |
probably damaging |
Het |
Glra1 |
A |
T |
11: 55,427,226 (GRCm39) |
D36E |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 35,001,018 (GRCm39) |
Y330H |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,236,602 (GRCm39) |
S382P |
probably damaging |
Het |
Kat6a |
G |
A |
8: 23,428,316 (GRCm39) |
E1224K |
probably damaging |
Het |
Klk13 |
A |
G |
7: 43,370,838 (GRCm39) |
E29G |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,165,643 (GRCm39) |
D124G |
probably benign |
Het |
Lrmda |
T |
C |
14: 22,069,978 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
G |
A |
17: 75,589,989 (GRCm39) |
V539M |
probably damaging |
Het |
Ngfr |
A |
C |
11: 95,462,687 (GRCm39) |
L317R |
probably damaging |
Het |
Nlrp6 |
C |
A |
7: 140,502,348 (GRCm39) |
H151Q |
probably damaging |
Het |
Nnt |
A |
G |
13: 119,494,182 (GRCm39) |
L633P |
probably damaging |
Het |
Nxpe3 |
C |
T |
16: 55,686,535 (GRCm39) |
V158M |
probably damaging |
Het |
Or11i1 |
T |
C |
3: 106,729,456 (GRCm39) |
T140A |
probably damaging |
Het |
Or2d36 |
T |
C |
7: 106,747,425 (GRCm39) |
F301L |
probably benign |
Het |
Or7g16 |
C |
T |
9: 18,727,254 (GRCm39) |
S112N |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,850 (GRCm39) |
Y517C |
probably damaging |
Het |
Poc1a |
A |
T |
9: 106,172,393 (GRCm39) |
I207F |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,636,938 (GRCm39) |
S338P |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 22,959,722 (GRCm39) |
V73A |
probably damaging |
Het |
Relb |
A |
T |
7: 19,347,789 (GRCm39) |
L281Q |
probably damaging |
Het |
Rrp8 |
A |
T |
7: 105,383,018 (GRCm39) |
L382* |
probably null |
Het |
Setd1a |
C |
T |
7: 127,390,522 (GRCm39) |
S523F |
unknown |
Het |
Slamf8 |
A |
G |
1: 172,415,697 (GRCm39) |
I47T |
probably damaging |
Het |
Slc16a4 |
G |
A |
3: 107,206,193 (GRCm39) |
A88T |
probably benign |
Het |
Tcp11l1 |
T |
A |
2: 104,512,165 (GRCm39) |
Y489F |
probably benign |
Het |
Tdrd6 |
T |
G |
17: 43,935,918 (GRCm39) |
D1710A |
probably benign |
Het |
Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
Vangl1 |
A |
T |
3: 102,070,739 (GRCm39) |
I399N |
probably damaging |
Het |
Vmn1r201 |
T |
C |
13: 22,659,014 (GRCm39) |
L76P |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,414,228 (GRCm39) |
M1V |
probably null |
Het |
Wdfy4 |
T |
C |
14: 32,817,262 (GRCm39) |
I1561V |
probably benign |
Het |
Xkr9 |
A |
G |
1: 13,771,027 (GRCm39) |
D181G |
probably damaging |
Het |
Zfp318 |
T |
C |
17: 46,720,104 (GRCm39) |
F1101L |
probably damaging |
Het |
Zfpm2 |
C |
A |
15: 40,966,409 (GRCm39) |
Q833K |
probably benign |
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 |
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 |
|
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 |
|
|
Posted On |
2015-12-18 |