Incidental Mutation 'R9297:Sox6'
ID |
704662 |
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 # |
R9297 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115261557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 220
(I220V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072804]
[ENSMUST00000106612]
[ENSMUST00000166207]
[ENSMUST00000166877]
[ENSMUST00000169129]
[ENSMUST00000205405]
[ENSMUST00000206369]
[ENSMUST00000206034]
|
AlphaFold |
P40645 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072804
AA Change: I220V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: I220V
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: I220V
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: I220V
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: I220V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: I220V
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: ENSMUST00000166877
AA Change: I220V
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: I220V
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: ENSMUST00000169129
AA Change: I220V
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: I220V
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: I220V
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206369
AA Change: I220V
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206034
AA Change: I220V
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
Meta Mutation Damage Score |
0.0695 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (73/74) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
T |
C |
16: 85,599,534 (GRCm39) |
Q22R |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,301,321 (GRCm39) |
S68P |
possibly damaging |
Het |
Adcy6 |
A |
T |
15: 98,491,466 (GRCm39) |
N1044K |
possibly damaging |
Het |
Ak9 |
T |
G |
10: 41,299,081 (GRCm39) |
M1594R |
unknown |
Het |
Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
Angpt1 |
A |
G |
15: 42,301,751 (GRCm39) |
I419T |
probably benign |
Het |
Ankrd31 |
A |
T |
13: 97,015,085 (GRCm39) |
L1451F |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,990,157 (GRCm39) |
I860T |
probably benign |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
Astn2 |
T |
C |
4: 65,460,960 (GRCm39) |
D1058G |
possibly damaging |
Het |
Atg3 |
A |
G |
16: 44,987,371 (GRCm39) |
H48R |
possibly damaging |
Het |
Bnc2 |
A |
C |
4: 84,474,136 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,496,887 (GRCm39) |
Y453H |
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,891,085 (GRCm39) |
T653A |
probably benign |
Het |
Ccdc102a |
A |
G |
8: 95,638,120 (GRCm39) |
S249P |
possibly damaging |
Het |
Ccdc125 |
A |
G |
13: 100,832,920 (GRCm39) |
Y499C |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,842,028 (GRCm39) |
F1468L |
probably benign |
Het |
Ccdc162 |
C |
A |
10: 41,506,110 (GRCm39) |
M893I |
probably benign |
Het |
Ccdc33 |
C |
A |
9: 57,993,876 (GRCm39) |
W335L |
possibly damaging |
Het |
Chn2 |
T |
A |
6: 54,272,840 (GRCm39) |
Y355N |
probably damaging |
Het |
Clec4g |
A |
G |
8: 3,766,500 (GRCm39) |
M267T |
probably damaging |
Het |
Cpa6 |
A |
T |
1: 10,554,273 (GRCm39) |
D111E |
possibly damaging |
Het |
Crlf3 |
A |
G |
11: 79,950,031 (GRCm39) |
C200R |
probably damaging |
Het |
Cyp4a10 |
T |
C |
4: 115,378,375 (GRCm39) |
S164P |
probably damaging |
Het |
Def6 |
A |
G |
17: 28,436,714 (GRCm39) |
N126S |
probably damaging |
Het |
Diaph1 |
G |
A |
18: 38,022,828 (GRCm39) |
T782I |
probably benign |
Het |
Dnah5 |
A |
C |
15: 28,204,054 (GRCm39) |
|
probably benign |
Het |
Eme1 |
A |
T |
11: 94,541,614 (GRCm39) |
S69R |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,908,996 (GRCm39) |
D2335E |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,024,973 (GRCm39) |
K282E |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 57,995,555 (GRCm39) |
E380G |
probably damaging |
Het |
Gm973 |
A |
T |
1: 59,583,829 (GRCm39) |
Y204F |
probably damaging |
Het |
Hace1 |
T |
A |
10: 45,528,769 (GRCm39) |
S337T |
probably benign |
Het |
Ipo8 |
C |
A |
6: 148,703,076 (GRCm39) |
C416F |
possibly damaging |
Het |
Kcnt2 |
T |
C |
1: 140,352,933 (GRCm39) |
I214T |
probably damaging |
Het |
Kdelr3 |
C |
A |
15: 79,411,275 (GRCm39) |
L203I |
probably benign |
Het |
Kif26b |
C |
T |
1: 178,543,374 (GRCm39) |
Q336* |
probably null |
Het |
Krt36 |
A |
G |
11: 99,994,271 (GRCm39) |
Y269H |
probably damaging |
Het |
Lamc1 |
G |
T |
1: 153,127,746 (GRCm39) |
R386S |
probably damaging |
Het |
Lipc |
T |
A |
9: 70,727,736 (GRCm39) |
D122V |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,280,873 (GRCm39) |
T1841A |
probably damaging |
Het |
Lrit1 |
T |
A |
14: 36,783,993 (GRCm39) |
D440E |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,882,480 (GRCm39) |
I448T |
probably benign |
Het |
Megf8 |
G |
T |
7: 25,030,511 (GRCm39) |
C488F |
probably damaging |
Het |
Mllt6 |
A |
G |
11: 97,563,314 (GRCm39) |
E299G |
probably damaging |
Het |
Mpst |
G |
T |
15: 78,294,642 (GRCm39) |
V125L |
probably damaging |
Het |
Msx1 |
G |
A |
5: 37,981,756 (GRCm39) |
|
probably benign |
Het |
Muc2 |
A |
G |
7: 141,302,759 (GRCm39) |
E473G |
|
Het |
Myo15a |
A |
G |
11: 60,385,899 (GRCm39) |
R602G |
probably null |
Het |
Myod1 |
A |
T |
7: 46,026,356 (GRCm39) |
H87L |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,650,897 (GRCm39) |
V478A |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,898,359 (GRCm39) |
I6634N |
unknown |
Het |
Or52ab7 |
T |
A |
7: 102,978,583 (GRCm39) |
Y297N |
probably damaging |
Het |
Or52e7 |
T |
C |
7: 104,684,830 (GRCm39) |
Y142H |
probably damaging |
Het |
Or8k22 |
A |
G |
2: 86,163,188 (GRCm39) |
Y171H |
probably benign |
Het |
Pdgfrl |
C |
T |
8: 41,391,268 (GRCm39) |
S66F |
probably damaging |
Het |
Phf20 |
G |
A |
2: 156,115,690 (GRCm39) |
R337H |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,293,118 (GRCm39) |
Y2834F |
probably benign |
Het |
Plekhg4 |
A |
C |
8: 106,105,907 (GRCm39) |
E768A |
probably damaging |
Het |
Prss37 |
A |
T |
6: 40,491,909 (GRCm39) |
Y224N |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,765,257 (GRCm39) |
V9E |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,417,698 (GRCm39) |
L926S |
probably benign |
Het |
Rgl1 |
G |
A |
1: 152,400,454 (GRCm39) |
T649I |
possibly damaging |
Het |
Serpinf1 |
A |
G |
11: 75,307,251 (GRCm39) |
S29P |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,668,717 (GRCm39) |
D1119E |
probably benign |
Het |
Snw1 |
T |
C |
12: 87,505,674 (GRCm39) |
K255E |
probably damaging |
Het |
Stimate |
T |
A |
14: 30,588,639 (GRCm39) |
V122E |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,287 (GRCm39) |
I247T |
probably damaging |
Het |
Tmem145 |
C |
T |
7: 25,008,257 (GRCm39) |
T280M |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Zfp219 |
T |
C |
14: 52,246,494 (GRCm39) |
H211R |
probably damaging |
Het |
Zfp42 |
T |
C |
8: 43,748,772 (GRCm39) |
N243S |
possibly damaging |
Het |
Zkscan4 |
T |
A |
13: 21,668,201 (GRCm39) |
S246R |
probably benign |
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 |
|
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'- TCTGTACTGCTGCCTAGGATG -3'
(R):5'- GCAAGACATTCCTCAAGCTTG -3'
Sequencing Primer
(F):5'- ACTGCTGCCTAGGATGTATTTC -3'
(R):5'- GACATTCCTCAAGCTTGTGAGATTTC -3'
|
Posted On |
2022-03-25 |