Incidental Mutation 'R8278:Sox6'
ID |
638069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
MMRRC Submission |
067701-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8278 (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 115076199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 813
(D813V)
|
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: D813V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: D813V
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: D771V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: D771V
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: D813V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: D813V
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: D773V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: D773V
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: D773V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: D773V
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: D814V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206034
AA Change: D772V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206369
AA Change: D814V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,668,040 (GRCm39) |
Q477L |
probably benign |
Het |
Adcy10 |
A |
T |
1: 165,330,857 (GRCm39) |
D40V |
probably damaging |
Het |
Cab39l |
T |
C |
14: 59,776,562 (GRCm39) |
Y248H |
probably damaging |
Het |
Casr |
G |
T |
16: 36,336,011 (GRCm39) |
D99E |
probably damaging |
Het |
Cdh16 |
T |
C |
8: 105,345,107 (GRCm39) |
E364G |
probably benign |
Het |
Cep104 |
C |
T |
4: 154,068,122 (GRCm39) |
T189I |
possibly damaging |
Het |
Cfap418 |
T |
A |
4: 10,882,474 (GRCm39) |
|
probably null |
Het |
Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
Chit1 |
G |
A |
1: 134,078,332 (GRCm39) |
R380Q |
probably benign |
Het |
Cpne2 |
A |
G |
8: 95,281,316 (GRCm39) |
K174R |
probably damaging |
Het |
Dchs2 |
T |
A |
3: 83,178,310 (GRCm39) |
I1121N |
probably damaging |
Het |
Fgf6 |
A |
T |
6: 126,992,781 (GRCm39) |
Y78F |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,429,832 (GRCm39) |
N320K |
probably benign |
Het |
Heatr3 |
A |
T |
8: 88,883,361 (GRCm39) |
N398I |
possibly damaging |
Het |
Hrh4 |
T |
C |
18: 13,140,284 (GRCm39) |
S60P |
probably damaging |
Het |
Ikbip |
A |
G |
10: 90,932,190 (GRCm39) |
H278R |
probably benign |
Het |
Jmy |
A |
T |
13: 93,601,224 (GRCm39) |
I394N |
probably damaging |
Het |
Klhl8 |
T |
C |
5: 104,022,107 (GRCm39) |
E314G |
probably benign |
Het |
Lhx9 |
A |
T |
1: 138,766,324 (GRCm39) |
C164S |
probably damaging |
Het |
Loxl3 |
G |
T |
6: 83,025,697 (GRCm39) |
G352C |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,928,432 (GRCm39) |
F1232S |
probably benign |
Het |
Mpnd |
A |
G |
17: 56,319,469 (GRCm39) |
T311A |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,444,025 (GRCm39) |
D132E |
probably benign |
Het |
Nck2 |
T |
C |
1: 43,593,740 (GRCm39) |
S316P |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,955,509 (GRCm39) |
S348G |
probably damaging |
Het |
Nyap1 |
C |
T |
5: 137,730,077 (GRCm39) |
R790H |
probably damaging |
Het |
Or5b124 |
C |
T |
19: 13,610,958 (GRCm39) |
T161I |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,094,736 (GRCm39) |
V507I |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,375,995 (GRCm39) |
H1380R |
probably benign |
Het |
Pgap1 |
C |
T |
1: 54,529,430 (GRCm39) |
V763I |
probably benign |
Het |
Pnma8b |
G |
T |
7: 16,680,263 (GRCm39) |
V416L |
probably damaging |
Het |
Prkn |
A |
T |
17: 12,269,609 (GRCm39) |
N421Y |
probably benign |
Het |
Prpf4 |
T |
C |
4: 62,333,493 (GRCm39) |
|
probably null |
Het |
Psmb5 |
C |
T |
14: 54,855,342 (GRCm39) |
G36D |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,239 (GRCm39) |
S571P |
possibly damaging |
Het |
Rap1gap |
A |
C |
4: 137,444,748 (GRCm39) |
S254R |
probably damaging |
Het |
Rufy2 |
A |
T |
10: 62,843,472 (GRCm39) |
D492V |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,610,392 (GRCm39) |
E4145* |
probably null |
Het |
Sgsm1 |
A |
G |
5: 113,407,958 (GRCm39) |
F898L |
probably damaging |
Het |
Slc26a9 |
C |
A |
1: 131,689,514 (GRCm39) |
A487D |
possibly damaging |
Het |
Slc6a15 |
T |
C |
10: 103,229,890 (GRCm39) |
|
probably null |
Het |
Smad9 |
A |
T |
3: 54,696,687 (GRCm39) |
T251S |
probably benign |
Het |
Socs3 |
A |
T |
11: 117,858,478 (GRCm39) |
C193* |
probably null |
Het |
Taf2 |
A |
T |
15: 54,929,361 (GRCm39) |
L65* |
probably null |
Het |
Taf6 |
G |
A |
5: 138,178,097 (GRCm39) |
A468V |
probably benign |
Het |
Tmem71 |
T |
C |
15: 66,426,961 (GRCm39) |
D78G |
probably damaging |
Het |
Tob2 |
T |
C |
15: 81,735,288 (GRCm39) |
N227S |
probably benign |
Het |
Trim34a |
C |
A |
7: 103,898,623 (GRCm39) |
Q180K |
probably damaging |
Het |
Ugt1a9 |
T |
C |
1: 87,999,378 (GRCm39) |
L276P |
possibly damaging |
Het |
Wdr33 |
G |
A |
18: 31,960,405 (GRCm39) |
R23Q |
possibly damaging |
Het |
Wnt7b |
T |
G |
15: 85,427,887 (GRCm39) |
N189H |
|
Het |
Zfp609 |
G |
A |
9: 65,604,804 (GRCm39) |
A1308V |
possibly 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 |
|
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'- ATCTGTCTCACACGTTACGAAGC -3'
(R):5'- GCTATTACTATGGCAACGACCAC -3'
Sequencing Primer
(F):5'- CGAAGCAATTAAGACCATTCTGCTG -3'
(R):5'- TACTATGGCAACGACCACACCATC -3'
|
Posted On |
2020-07-28 |