Incidental Mutation 'R8693:Sox6'
| ID |
668503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox6
|
| Ensembl Gene |
ENSMUSG00000051910 |
| Gene Name |
SRY (sex determining region Y)-box 6 |
| Synonyms |
|
| MMRRC Submission |
068547-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115261632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 195
(I195F)
|
| 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 damaging
Transcript: ENSMUST00000072804
AA Change: I195F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: I195F
| 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: I195F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: I195F
| 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 damaging
Transcript: ENSMUST00000166207
AA Change: I195F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: I195F
| 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: I195F
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: I195F
| 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: I195F
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: I195F
| 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: ENSMUST00000205405
AA Change: I195F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205479
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206034
AA Change: I195F
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206369
AA Change: I195F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,810,474 (GRCm39) |
S924P |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,364,844 (GRCm39) |
H1508R |
probably damaging |
Het |
| Adam34 |
T |
C |
8: 44,104,641 (GRCm39) |
M335V |
probably benign |
Het |
| Akap8 |
A |
T |
17: 32,529,625 (GRCm39) |
N438K |
probably damaging |
Het |
| Alpi |
C |
A |
1: 87,026,405 (GRCm39) |
G529C |
unknown |
Het |
| Arhgap30 |
T |
C |
1: 171,225,094 (GRCm39) |
V50A |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,088,960 (GRCm39) |
E145G |
probably damaging |
Het |
| Ccdc177 |
A |
G |
12: 80,804,582 (GRCm39) |
L564P |
unknown |
Het |
| Cdk12 |
C |
T |
11: 98,141,133 (GRCm39) |
P1458L |
unknown |
Het |
| Chek1 |
A |
G |
9: 36,625,140 (GRCm39) |
F314L |
probably benign |
Het |
| Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,656,522 (GRCm39) |
V239A |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,258,492 (GRCm39) |
M2246T |
probably benign |
Het |
| Crhr2 |
A |
G |
6: 55,079,779 (GRCm39) |
F187S |
possibly damaging |
Het |
| Dchs2 |
T |
A |
3: 83,192,631 (GRCm39) |
V1692D |
probably damaging |
Het |
| Dctd |
T |
A |
8: 48,565,046 (GRCm39) |
I57N |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,911,272 (GRCm39) |
L977* |
probably null |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,088,952 (GRCm39) |
S865P |
probably damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,858,535 (GRCm39) |
I275F |
possibly damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,262,718 (GRCm39) |
I757N |
probably damaging |
Het |
| Exog |
A |
G |
9: 119,276,108 (GRCm39) |
Q110R |
possibly damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,403,704 (GRCm39) |
C426R |
probably benign |
Het |
| Fndc11 |
A |
C |
2: 180,863,864 (GRCm39) |
H223P |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,080,286 (GRCm39) |
S334R |
probably damaging |
Het |
| Galnt14 |
A |
T |
17: 73,833,257 (GRCm39) |
I239N |
probably damaging |
Het |
| Gm5930 |
C |
T |
14: 44,576,015 (GRCm39) |
M1I |
probably null |
Het |
| Igkv4-63 |
A |
G |
6: 69,355,051 (GRCm39) |
S77P |
probably benign |
Het |
| Igkv5-48 |
G |
A |
6: 69,703,779 (GRCm39) |
S42F |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 33,854,884 (GRCm39) |
Y1992F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,721,981 (GRCm39) |
Y3788C |
unknown |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,700,066 (GRCm39) |
N525S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,046,599 (GRCm39) |
H1399R |
unknown |
Het |
| Mga |
T |
A |
2: 119,794,407 (GRCm39) |
V2697E |
possibly damaging |
Het |
| Msto1 |
T |
C |
3: 88,819,184 (GRCm39) |
T188A |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
| Or10d1 |
G |
T |
9: 39,483,800 (GRCm39) |
P252T |
probably damaging |
Het |
| Pbld1 |
A |
T |
10: 62,910,890 (GRCm39) |
K248* |
probably null |
Het |
| Pcdhb12 |
G |
A |
18: 37,570,474 (GRCm39) |
R540H |
probably benign |
Het |
| Pcx |
G |
T |
19: 4,652,039 (GRCm39) |
A96S |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,094,696 (GRCm39) |
I174V |
probably benign |
Het |
| Psme3 |
T |
C |
11: 101,211,422 (GRCm39) |
I193T |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,100,501 (GRCm39) |
H132Q |
probably damaging |
Het |
| Scrib |
C |
A |
15: 75,936,354 (GRCm39) |
D501Y |
probably damaging |
Het |
| Sdad1 |
C |
A |
5: 92,452,857 (GRCm39) |
R127L |
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,249,041 (GRCm39) |
T356A |
probably damaging |
Het |
| Sh3bgrl3 |
T |
C |
4: 133,855,116 (GRCm39) |
D73G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,216,517 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
G |
A |
10: 89,428,758 (GRCm39) |
A261V |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,090,928 (GRCm39) |
K809E |
possibly damaging |
Het |
| Tmem30c |
G |
A |
16: 57,086,855 (GRCm39) |
T316M |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 61,208,451 (GRCm39) |
T357A |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,900,868 (GRCm39) |
T574S |
probably damaging |
Het |
| Trappc3l |
G |
A |
10: 33,974,917 (GRCm39) |
C133Y |
probably damaging |
Het |
| Unk |
C |
T |
11: 115,938,640 (GRCm39) |
T81I |
probably damaging |
Het |
| Vamp1 |
G |
A |
6: 125,217,388 (GRCm39) |
R144K |
unknown |
Het |
| Wnt9b |
T |
C |
11: 103,624,487 (GRCm39) |
N101S |
probably damaging |
Het |
| Wwtr1 |
T |
A |
3: 57,369,945 (GRCm39) |
D390V |
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 |
|
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 |
|
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'- CCAACAAGTAGACCAATTAGTGTG -3'
(R):5'- TGCACTTCATGGCAAATACTCC -3'
Sequencing Primer
(F):5'- AGACCAATTAGTGTGATTGCTTGC -3'
(R):5'- TTCATGGCAAATACTCCCAGTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation