Incidental Mutation 'R9517:Sox6'
| ID |
718649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox6
|
| Ensembl Gene |
ENSMUSG00000051910 |
| Gene Name |
SRY (sex determining region Y)-box 6 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9517 (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 115111970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 552
(L552S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000072804
AA Change: L552S
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: L552S
| 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: ENSMUST00000106612
AA Change: L510S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: L510S
| 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: L552S
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: L552S
| 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: L512S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: L512S
| 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: L512S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: L512S
| 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: L553S
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206034
AA Change: L511S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206369
AA Change: L553S
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,113,528 (GRCm39) |
V264E |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,987,424 (GRCm39) |
I1237V |
probably benign |
Het |
| Actn2 |
G |
T |
13: 12,295,317 (GRCm39) |
Q552K |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,024,866 (GRCm39) |
C810S |
possibly damaging |
Het |
| Aip |
A |
T |
19: 4,168,217 (GRCm39) |
I50K |
possibly damaging |
Het |
| Arsk |
A |
G |
13: 76,210,638 (GRCm39) |
S470P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,167 (GRCm39) |
I2018K |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,705,275 (GRCm39) |
D46N |
|
Het |
| C6 |
G |
T |
15: 4,827,914 (GRCm39) |
C761F |
probably damaging |
Het |
| Cdk12 |
A |
T |
11: 98,109,910 (GRCm39) |
T644S |
unknown |
Het |
| Cela3a |
T |
A |
4: 137,131,825 (GRCm39) |
I123F |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 33,026,317 (GRCm39) |
S42T |
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,616,652 (GRCm39) |
S323P |
possibly damaging |
Het |
| Clec4g |
C |
A |
8: 3,767,452 (GRCm39) |
A198S |
probably damaging |
Het |
| Dcbld2 |
T |
G |
16: 58,253,819 (GRCm39) |
D185E |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,915,440 (GRCm39) |
V4393A |
possibly damaging |
Het |
| Dock9 |
T |
C |
14: 121,829,236 (GRCm39) |
T1392A |
probably benign |
Het |
| Ell2 |
A |
G |
13: 75,912,106 (GRCm39) |
K464R |
possibly damaging |
Het |
| Eme2 |
G |
A |
17: 25,114,033 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,480,636 (GRCm39) |
I530N |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,892 (GRCm39) |
Y263H |
|
Het |
| Frem1 |
T |
C |
4: 82,901,714 (GRCm39) |
Y938C |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,522 (GRCm39) |
D343G |
probably benign |
Het |
| Gm3415 |
C |
T |
5: 146,493,406 (GRCm39) |
R84C |
possibly damaging |
Het |
| Hap1 |
A |
T |
11: 100,240,188 (GRCm39) |
V536D |
possibly damaging |
Het |
| Icos |
T |
C |
1: 61,032,894 (GRCm39) |
F31S |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,638,853 (GRCm39) |
S812T |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,655,240 (GRCm39) |
V623A |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,560 (GRCm39) |
T396A |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,794,272 (GRCm39) |
C445* |
probably null |
Het |
| Lrrc37 |
G |
A |
11: 103,433,416 (GRCm39) |
T3251I |
unknown |
Het |
| Mcc |
C |
A |
18: 44,794,794 (GRCm39) |
G10C |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,515 (GRCm39) |
T217A |
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,728,730 (GRCm39) |
S23R |
probably benign |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,721,166 (GRCm39) |
D1255E |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,360,277 (GRCm39) |
M466K |
probably benign |
Het |
| Or10j3 |
C |
A |
1: 173,031,346 (GRCm39) |
A141D |
possibly damaging |
Het |
| Or11g26 |
C |
A |
14: 50,752,770 (GRCm39) |
F36L |
probably benign |
Het |
| Or4c106 |
G |
A |
2: 88,682,947 (GRCm39) |
V218I |
probably benign |
Het |
| Or4f54 |
T |
G |
2: 111,123,033 (GRCm39) |
M140R |
possibly damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,623 (GRCm39) |
M59K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,042,965 (GRCm39) |
V192A |
probably benign |
Het |
| Pgd |
T |
C |
4: 149,249,668 (GRCm39) |
T35A |
possibly damaging |
Het |
| Plcxd3 |
G |
T |
15: 4,405,160 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,930 (GRCm39) |
D171V |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,953,930 (GRCm39) |
T124A |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,489,117 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,607,788 (GRCm39) |
V144A |
probably benign |
Het |
| Rin3 |
T |
C |
12: 102,334,895 (GRCm39) |
S269P |
unknown |
Het |
| Setbp1 |
T |
C |
18: 78,901,322 (GRCm39) |
S782G |
probably damaging |
Het |
| Sgce |
A |
T |
6: 4,694,153 (GRCm39) |
F268I |
probably damaging |
Het |
| Tent4a |
A |
G |
13: 69,655,059 (GRCm39) |
C472R |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,555 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,782,258 (GRCm39) |
I20R |
possibly damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,213,641 (GRCm39) |
R76* |
probably null |
Het |
| Zhx1 |
A |
T |
15: 57,915,812 (GRCm39) |
Y811* |
probably null |
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 |
|
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 |
|
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'- ACACATTGAGGACCAACATTTC -3'
(R):5'- CACCTGGTTCATCAGTGACAGC -3'
Sequencing Primer
(F):5'- GAGGACCAACATTTCATTTTTGCC -3'
(R):5'- TGGTTCATCAGTGACAGCTCAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation