Incidental Mutation 'R7233:Sox6'
ID |
562633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
MMRRC Submission |
045343-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7233 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115089044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 606
(V606A)
|
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: V606A
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: V606A
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: V564A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: V564A
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: V606A
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: V606A
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: V566A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: V566A
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: V566A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: V566A
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 |
possibly damaging
Transcript: ENSMUST00000205405
AA Change: V607A
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206034
AA Change: V565A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206369
AA Change: V607A
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,762,641 (GRCm39) |
K505R |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 103,026,367 (GRCm39) |
K263E |
probably benign |
Het |
Ark2n |
C |
A |
18: 77,722,882 (GRCm39) |
V385F |
probably damaging |
Het |
Armc2 |
A |
T |
10: 41,799,800 (GRCm39) |
V686D |
probably damaging |
Het |
Bhmt |
T |
A |
13: 93,758,025 (GRCm39) |
K229* |
probably null |
Het |
Birc2 |
A |
T |
9: 7,827,009 (GRCm39) |
C326S |
probably damaging |
Het |
Blzf1 |
A |
T |
1: 164,123,512 (GRCm39) |
|
probably null |
Het |
Camsap3 |
T |
A |
8: 3,650,371 (GRCm39) |
F223Y |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Ces2h |
T |
A |
8: 105,744,088 (GRCm39) |
C279S |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,242,771 (GRCm39) |
L725Q |
probably damaging |
Het |
Cibar2 |
A |
G |
8: 120,898,661 (GRCm39) |
L131P |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,749,922 (GRCm39) |
E987G |
probably damaging |
Het |
Cog1 |
G |
T |
11: 113,540,556 (GRCm39) |
R57L |
probably damaging |
Het |
Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Dnttip2 |
T |
C |
3: 122,070,039 (GRCm39) |
V418A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,403,749 (GRCm39) |
A186T |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,730,669 (GRCm39) |
S1966P |
possibly damaging |
Het |
Engase |
T |
A |
11: 118,373,827 (GRCm39) |
V323E |
probably damaging |
Het |
Farsb |
A |
G |
1: 78,447,718 (GRCm39) |
|
probably null |
Het |
Fpr2 |
G |
T |
17: 18,113,766 (GRCm39) |
W254L |
probably damaging |
Het |
Frmd3 |
A |
C |
4: 73,932,023 (GRCm39) |
H6P |
probably benign |
Het |
Fscn1 |
C |
T |
5: 142,956,029 (GRCm39) |
S366L |
possibly damaging |
Het |
Galt |
T |
A |
4: 41,758,267 (GRCm39) |
I344N |
probably benign |
Het |
Gfra4 |
A |
T |
2: 130,883,037 (GRCm39) |
V194E |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,735,120 (GRCm39) |
S1497P |
possibly damaging |
Het |
Igfn1 |
A |
C |
1: 135,897,873 (GRCm39) |
S898A |
probably benign |
Het |
Igkv1-135 |
T |
C |
6: 67,587,332 (GRCm39) |
S68P |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,107,659 (GRCm39) |
C784S |
probably damaging |
Het |
Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
Lats2 |
A |
T |
14: 57,960,151 (GRCm39) |
|
probably null |
Het |
Lgr6 |
A |
C |
1: 134,928,214 (GRCm39) |
|
probably null |
Het |
Lrp1 |
A |
T |
10: 127,430,930 (GRCm39) |
I373N |
probably damaging |
Het |
Maml2 |
A |
T |
9: 13,532,067 (GRCm39) |
H427L |
|
Het |
Mansc1 |
A |
G |
6: 134,598,806 (GRCm39) |
V37A |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
Mastl |
A |
G |
2: 23,023,670 (GRCm39) |
I351T |
probably benign |
Het |
Mcmdc2 |
T |
G |
1: 10,002,408 (GRCm39) |
|
probably null |
Het |
Mrgprd |
A |
G |
7: 144,875,672 (GRCm39) |
D181G |
possibly damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Msra |
T |
C |
14: 64,360,714 (GRCm39) |
Y209C |
probably damaging |
Het |
Musk |
A |
G |
4: 58,373,307 (GRCm39) |
E759G |
possibly damaging |
Het |
Nab1 |
T |
C |
1: 52,498,378 (GRCm39) |
*487W |
probably null |
Het |
Or2z9 |
A |
G |
8: 72,853,900 (GRCm39) |
T99A |
probably benign |
Het |
Or5p66 |
T |
A |
7: 107,885,923 (GRCm39) |
T137S |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,705,349 (GRCm39) |
S196P |
probably damaging |
Het |
Pln |
A |
G |
10: 53,220,008 (GRCm39) |
T17A |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,581,619 (GRCm39) |
|
probably null |
Het |
Ppp1r14a |
T |
A |
7: 28,988,949 (GRCm39) |
Y64N |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,134,804 (GRCm39) |
H959L |
probably benign |
Het |
Pramel42 |
A |
T |
5: 94,685,524 (GRCm39) |
M395L |
probably benign |
Het |
Prmt7 |
A |
G |
8: 106,946,642 (GRCm39) |
T75A |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,816 (GRCm39) |
S319G |
possibly damaging |
Het |
Prtg |
G |
A |
9: 72,819,273 (GRCm39) |
G1089S |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,978,020 (GRCm39) |
D596G |
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,894 (GRCm39) |
G793S |
unknown |
Het |
Rora |
A |
T |
9: 69,104,804 (GRCm39) |
R43* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,863,963 (GRCm39) |
Y482H |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,122 (GRCm39) |
N176Y |
probably damaging |
Het |
Slc44a2 |
G |
T |
9: 21,259,445 (GRCm39) |
|
probably null |
Het |
Spa17 |
T |
C |
9: 37,514,587 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
C |
10: 5,252,160 (GRCm39) |
L2498R |
probably damaging |
Het |
Synpo2 |
T |
G |
3: 122,911,333 (GRCm39) |
H104P |
probably benign |
Het |
Tapbp |
G |
T |
17: 34,138,943 (GRCm39) |
A46S |
probably damaging |
Het |
Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,944 (GRCm39) |
D488G |
possibly damaging |
Het |
Ulk1 |
A |
G |
5: 110,956,908 (GRCm39) |
L70P |
probably damaging |
Het |
Zcchc17 |
T |
A |
4: 130,221,116 (GRCm39) |
D145V |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,716,978 (GRCm39) |
L1037M |
probably damaging |
Het |
Zfp324 |
C |
T |
7: 12,704,524 (GRCm39) |
Q238* |
probably null |
Het |
Zfp874a |
A |
G |
13: 67,590,776 (GRCm39) |
Y303H |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,918 (GRCm39) |
K232E |
probably benign |
Het |
Zfp982 |
T |
A |
4: 147,597,718 (GRCm39) |
N358K |
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,650,092 (GRCm39) |
P417S |
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 |
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'- TATGGGGCTAACTTCTGCCC -3'
(R):5'- CCCTTAGAACAGAAGATGGGC -3'
Sequencing Primer
(F):5'- TGAGAGACCAGTGCCAGCTG -3'
(R):5'- CCAGAGGACAGCAGATAAGCC -3'
|
Posted On |
2019-06-26 |