Incidental Mutation 'R1570:Sox6'
ID |
177182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
MMRRC Submission |
039609-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1570 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 115376358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 125
(G125W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072804]
[ENSMUST00000106612]
[ENSMUST00000166207]
[ENSMUST00000166877]
[ENSMUST00000169129]
[ENSMUST00000205405]
[ENSMUST00000206369]
[ENSMUST00000206123]
[ENSMUST00000206034]
|
AlphaFold |
P40645 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072804
AA Change: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: G125W
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: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: G125W
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: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: G125W
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: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: G125W
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: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: G125W
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: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206369
AA Change: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206123
AA Change: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206034
AA Change: G125W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
Meta Mutation Damage Score |
0.4849 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
Validation Efficiency |
93% (77/83) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apobec1 |
A |
G |
6: 122,568,044 (GRCm39) |
|
probably null |
Het |
Arhgap21 |
G |
T |
2: 20,885,651 (GRCm39) |
Q348K |
probably benign |
Het |
Arl5c |
A |
G |
11: 97,883,213 (GRCm39) |
V129A |
probably benign |
Het |
Armh1 |
A |
G |
4: 117,087,189 (GRCm39) |
S159P |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,034,309 (GRCm39) |
L82P |
probably damaging |
Het |
Bahcc1 |
G |
A |
11: 120,163,009 (GRCm39) |
A436T |
possibly damaging |
Het |
Btc |
T |
C |
5: 91,550,576 (GRCm39) |
D2G |
unknown |
Het |
C1s2 |
G |
A |
6: 124,602,723 (GRCm39) |
T490M |
probably benign |
Het |
Caap1 |
C |
T |
4: 94,444,814 (GRCm39) |
G43D |
probably benign |
Het |
Ccr5 |
T |
C |
9: 123,925,000 (GRCm39) |
V201A |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdhr5 |
C |
A |
7: 140,851,682 (GRCm39) |
G541C |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,583,367 (GRCm39) |
I1004T |
possibly damaging |
Het |
Chd9 |
A |
T |
8: 91,763,170 (GRCm39) |
M2332L |
probably benign |
Het |
Clk1 |
T |
A |
1: 58,453,584 (GRCm39) |
H334L |
probably benign |
Het |
Cyp4b1 |
G |
A |
4: 115,493,160 (GRCm39) |
S228F |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,003,156 (GRCm39) |
N883D |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,176,926 (GRCm39) |
L11P |
probably benign |
Het |
Ephx4 |
A |
G |
5: 107,567,717 (GRCm39) |
E225G |
probably damaging |
Het |
Erich6 |
C |
T |
3: 58,538,080 (GRCm39) |
|
probably null |
Het |
Espl1 |
A |
G |
15: 102,206,802 (GRCm39) |
T89A |
probably damaging |
Het |
Evi2 |
T |
A |
11: 79,407,076 (GRCm39) |
K166N |
possibly damaging |
Het |
Glrx5 |
A |
G |
12: 104,999,127 (GRCm39) |
T57A |
possibly damaging |
Het |
Gnptab |
T |
A |
10: 88,255,316 (GRCm39) |
V222E |
probably damaging |
Het |
Gpr155 |
T |
C |
2: 73,200,382 (GRCm39) |
Y375C |
possibly damaging |
Het |
Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
Ildr2 |
T |
C |
1: 166,131,154 (GRCm39) |
F337L |
probably damaging |
Het |
Ino80 |
C |
T |
2: 119,277,509 (GRCm39) |
R322Q |
possibly damaging |
Het |
Lcp2 |
A |
G |
11: 34,039,601 (GRCm39) |
D467G |
probably benign |
Het |
Lmbr1 |
A |
G |
5: 29,459,556 (GRCm39) |
I229T |
probably damaging |
Het |
Lnpep |
A |
T |
17: 17,799,418 (GRCm39) |
M79K |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,610,999 (GRCm39) |
Q564R |
possibly damaging |
Het |
Lpin2 |
T |
A |
17: 71,552,176 (GRCm39) |
L794* |
probably null |
Het |
Lrrc37 |
A |
G |
11: 103,500,764 (GRCm39) |
Y597H |
possibly damaging |
Het |
Lrrc45 |
T |
C |
11: 120,610,935 (GRCm39) |
|
probably null |
Het |
Mtus1 |
A |
G |
8: 41,529,278 (GRCm39) |
S751P |
probably damaging |
Het |
Nbr1 |
T |
C |
11: 101,455,656 (GRCm39) |
|
probably benign |
Het |
Nup107 |
A |
G |
10: 117,599,749 (GRCm39) |
F592S |
possibly damaging |
Het |
Nup133 |
T |
A |
8: 124,675,915 (GRCm39) |
M1L |
possibly damaging |
Het |
Or2a20 |
T |
C |
6: 43,194,285 (GRCm39) |
V146A |
probably benign |
Het |
Or3a10 |
A |
C |
11: 73,935,633 (GRCm39) |
F156V |
possibly damaging |
Het |
Or4n4 |
T |
G |
14: 50,518,981 (GRCm39) |
H243P |
probably damaging |
Het |
Or4p8 |
A |
C |
2: 88,727,290 (GRCm39) |
I217S |
probably damaging |
Het |
Or52b4i |
C |
A |
7: 102,191,177 (GRCm39) |
H11Q |
probably damaging |
Het |
Or8i2 |
A |
T |
2: 86,852,616 (GRCm39) |
S91T |
probably benign |
Het |
Otud7b |
T |
C |
3: 96,063,208 (GRCm39) |
C816R |
probably damaging |
Het |
Pi4k2a |
T |
C |
19: 42,089,083 (GRCm39) |
V148A |
probably benign |
Het |
Pih1d2 |
T |
C |
9: 50,532,479 (GRCm39) |
M195T |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,826,060 (GRCm39) |
E311G |
probably benign |
Het |
Plpp6 |
T |
C |
19: 28,942,178 (GRCm39) |
F260L |
probably damaging |
Het |
R3hcc1l |
A |
T |
19: 42,570,393 (GRCm39) |
T663S |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,634,426 (GRCm39) |
E199G |
probably damaging |
Het |
Scin |
G |
A |
12: 40,134,380 (GRCm39) |
|
probably benign |
Het |
Serpinb1c |
A |
T |
13: 33,080,973 (GRCm39) |
S37T |
probably benign |
Het |
Snx19 |
A |
G |
9: 30,339,639 (GRCm39) |
D259G |
probably damaging |
Het |
Sorcs3 |
A |
G |
19: 48,752,620 (GRCm39) |
K805R |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,100,174 (GRCm39) |
I64V |
probably benign |
Het |
Spmip10 |
T |
A |
18: 56,727,606 (GRCm39) |
D101E |
probably benign |
Het |
St6galnac1 |
A |
G |
11: 116,657,474 (GRCm39) |
|
probably benign |
Het |
Sult1c2 |
T |
C |
17: 54,143,991 (GRCm39) |
I105V |
probably benign |
Het |
Tacr3 |
T |
G |
3: 134,535,517 (GRCm39) |
S162A |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,721,549 (GRCm39) |
S1013P |
probably damaging |
Het |
Zbtb11 |
C |
A |
16: 55,811,178 (GRCm39) |
N445K |
probably benign |
Het |
Zfp423 |
A |
C |
8: 88,509,186 (GRCm39) |
V261G |
probably benign |
Het |
Zfp59 |
T |
C |
7: 27,553,016 (GRCm39) |
V156A |
probably benign |
Het |
Zscan2 |
C |
A |
7: 80,513,141 (GRCm39) |
A42E |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGGCACTTCTGGCCCTTGGAATC -3'
(R):5'- TGTGAATGAGAAGCCAAGCTGTCC -3'
Sequencing Primer
(F):5'- GAATCCTGGTTATTTTGCTATTGCC -3'
(R):5'- AAGCCAAGCTGTCCAGTTTTG -3'
|
Posted On |
2014-04-24 |