Incidental Mutation 'R8558:Sox6'
ID |
660853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
MMRRC Submission |
068521-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8558 (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 G
at 115141033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 482
(S482P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072583
(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: S482P
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: S482P
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: S440P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: S440P
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: S482P
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: S482P
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 damaging
Transcript: ENSMUST00000166877
AA Change: S442P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: S442P
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 damaging
Transcript: ENSMUST00000169129
AA Change: S442P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: S442P
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: S483P
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206034
AA Change: S441P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206369
AA Change: S483P
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
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 |
1700017N19Rik |
A |
T |
10: 100,430,497 (GRCm39) |
R51S |
probably benign |
Het |
1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
Abcb5 |
T |
C |
12: 118,841,566 (GRCm39) |
T960A |
probably benign |
Het |
Abcc3 |
A |
G |
11: 94,242,623 (GRCm39) |
|
probably null |
Het |
Adamtsl3 |
A |
T |
7: 82,077,600 (GRCm39) |
D95V |
possibly damaging |
Het |
Ash1l |
T |
A |
3: 88,891,713 (GRCm39) |
S1197R |
probably damaging |
Het |
BC034090 |
T |
A |
1: 155,097,085 (GRCm39) |
H671L |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,102,750 (GRCm39) |
M1443K |
|
Het |
Btnl9 |
T |
C |
11: 49,071,619 (GRCm39) |
E68G |
probably benign |
Het |
C1qtnf1 |
A |
T |
11: 118,339,149 (GRCm39) |
Y273F |
probably damaging |
Het |
C4b |
A |
T |
17: 34,955,541 (GRCm39) |
C714S |
probably damaging |
Het |
Carmil1 |
G |
A |
13: 24,209,863 (GRCm39) |
T1204I |
probably benign |
Het |
Cdk12 |
T |
C |
11: 98,101,915 (GRCm39) |
L591P |
unknown |
Het |
Ces2f |
T |
A |
8: 105,679,758 (GRCm39) |
L417* |
probably null |
Het |
Chl1 |
T |
A |
6: 103,685,390 (GRCm39) |
S810R |
probably benign |
Het |
Ckap2 |
A |
G |
8: 22,658,811 (GRCm39) |
V644A |
possibly damaging |
Het |
Ctdsp2 |
T |
A |
10: 126,829,746 (GRCm39) |
V126E |
probably damaging |
Het |
Dok6 |
G |
T |
18: 89,492,066 (GRCm39) |
H170Q |
probably damaging |
Het |
Dynlrb1 |
T |
C |
2: 155,084,728 (GRCm39) |
|
probably null |
Het |
Eif5b |
T |
C |
1: 38,083,795 (GRCm39) |
L757S |
probably damaging |
Het |
Epas1 |
A |
C |
17: 87,116,896 (GRCm39) |
T189P |
possibly damaging |
Het |
Epha10 |
C |
A |
4: 124,788,777 (GRCm39) |
N283K |
|
Het |
Epha5 |
C |
A |
5: 84,206,975 (GRCm39) |
G853C |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,594,493 (GRCm39) |
H831Q |
probably damaging |
Het |
Gcnt3 |
T |
A |
9: 69,941,996 (GRCm39) |
K191* |
probably null |
Het |
Gm14226 |
T |
A |
2: 154,866,909 (GRCm39) |
S289T |
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,314,674 (GRCm39) |
D323V |
probably damaging |
Het |
Golga3 |
G |
T |
5: 110,356,421 (GRCm39) |
R1036L |
possibly damaging |
Het |
Gopc |
T |
C |
10: 52,229,580 (GRCm39) |
Q213R |
probably damaging |
Het |
Hrh1 |
G |
A |
6: 114,457,564 (GRCm39) |
V282M |
probably benign |
Het |
Ighv5-4 |
T |
C |
12: 113,561,078 (GRCm39) |
Y114C |
probably damaging |
Het |
Igkv10-94 |
A |
T |
6: 68,681,636 (GRCm39) |
I68N |
probably damaging |
Het |
Kcnj3 |
A |
G |
2: 55,336,875 (GRCm39) |
D247G |
possibly damaging |
Het |
Lcn6 |
C |
A |
2: 25,570,718 (GRCm39) |
S102Y |
probably damaging |
Het |
Matk |
C |
A |
10: 81,096,765 (GRCm39) |
H232N |
probably benign |
Het |
Mcm9 |
C |
T |
10: 53,492,068 (GRCm39) |
V366I |
probably benign |
Het |
Nadk |
A |
G |
4: 155,669,844 (GRCm39) |
I176V |
probably benign |
Het |
Nlrp12 |
A |
G |
7: 3,298,111 (GRCm39) |
L20P |
probably damaging |
Het |
Oga |
T |
C |
19: 45,746,511 (GRCm39) |
S763G |
probably benign |
Het |
Or10ag56 |
A |
T |
2: 87,139,583 (GRCm39) |
Q170L |
probably benign |
Het |
Or1e21 |
G |
A |
11: 73,344,309 (GRCm39) |
S243F |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,329 (GRCm39) |
L247P |
probably damaging |
Het |
Pcdhgb6 |
T |
A |
18: 37,877,237 (GRCm39) |
D648E |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,083,391 (GRCm39) |
K516E |
probably damaging |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Pnma2 |
C |
T |
14: 67,153,972 (GRCm39) |
A132V |
probably benign |
Het |
Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,099,602 (GRCm39) |
E1702G |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,392,422 (GRCm39) |
H756Q |
probably benign |
Het |
Rab5a |
A |
G |
17: 53,790,877 (GRCm39) |
|
probably benign |
Het |
Rars2 |
A |
G |
4: 34,657,199 (GRCm39) |
D515G |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,320,429 (GRCm39) |
C329S |
probably damaging |
Het |
Rps6ka2 |
G |
A |
17: 7,523,316 (GRCm39) |
V231M |
possibly damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Scrt1 |
G |
T |
15: 76,403,843 (GRCm39) |
S49* |
probably null |
Het |
Sec23b |
C |
G |
2: 144,428,308 (GRCm39) |
D640E |
possibly damaging |
Het |
Setdb1 |
C |
T |
3: 95,261,979 (GRCm39) |
V96M |
possibly damaging |
Het |
Sik3 |
C |
A |
9: 46,066,746 (GRCm39) |
A175E |
probably damaging |
Het |
Smarcad1 |
A |
G |
6: 65,060,908 (GRCm39) |
K463E |
probably benign |
Het |
Sobp |
A |
C |
10: 43,003,888 (GRCm39) |
C154G |
probably damaging |
Het |
Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
Spink11 |
T |
A |
18: 44,324,748 (GRCm39) |
R75* |
probably null |
Het |
Sptb |
T |
C |
12: 76,659,561 (GRCm39) |
H1113R |
probably benign |
Het |
Sypl2 |
A |
T |
3: 108,125,004 (GRCm39) |
V119E |
probably damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,427,903 (GRCm39) |
S20G |
unknown |
Het |
Tektl1 |
T |
C |
10: 78,583,035 (GRCm39) |
K450E |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,912,549 (GRCm39) |
V106D |
probably damaging |
Het |
Tspyl4 |
G |
C |
10: 34,174,261 (GRCm39) |
R251P |
probably damaging |
Het |
Ttc21a |
T |
A |
9: 119,787,835 (GRCm39) |
L801Q |
probably damaging |
Het |
Vgll3 |
A |
G |
16: 65,624,844 (GRCm39) |
E64G |
probably damaging |
Het |
Vmn2r30 |
A |
G |
7: 7,315,655 (GRCm39) |
I726T |
possibly damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,106,467 (GRCm39) |
S482P |
possibly damaging |
Het |
Wasf1 |
T |
G |
10: 40,806,648 (GRCm39) |
M97R |
possibly damaging |
Het |
Wdr33 |
T |
A |
18: 31,962,947 (GRCm39) |
M98K |
probably benign |
Het |
Wdr73 |
G |
A |
7: 80,548,254 (GRCm39) |
T95I |
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 |
|
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 |
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'- ACAGGATTACCTTCTCAGTCCTG -3'
(R):5'- GGGTATCCTCCATGTGCAAC -3'
Sequencing Primer
(F):5'- AGTCCTGCAGTTGCTCAGC -3'
(R):5'- AACCTGTACAGCTTGGTTGAC -3'
|
Posted On |
2021-03-08 |