Incidental Mutation 'R1704:Sox6'
| ID |
189969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox6
|
| Ensembl Gene |
ENSMUSG00000051910 |
| Gene Name |
SRY (sex determining region Y)-box 6 |
| Synonyms |
|
| MMRRC Submission |
039737-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1704 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115076183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 777
(N777K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145919
(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: N818K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
AA Change: N818K
| 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 |
possibly damaging
Transcript: ENSMUST00000106612
AA Change: N776K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
AA Change: N776K
| 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: N818K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
AA Change: N818K
| 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 |
possibly damaging
Transcript: ENSMUST00000166877
AA Change: N778K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
AA Change: N778K
| 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: ENSMUST00000169129
AA Change: N778K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
AA Change: N778K
| 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: N819K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206034
AA Change: N777K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206369
AA Change: N819K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
C |
T |
3: 37,146,164 (GRCm39) |
H511Y |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,344,524 (GRCm39) |
A341T |
probably benign |
Het |
| Apon |
T |
C |
10: 128,090,865 (GRCm39) |
F181S |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,537,242 (GRCm39) |
L342Q |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,579,107 (GRCm39) |
H1810Q |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,159,681 (GRCm39) |
Y1593C |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,989,327 (GRCm39) |
S1825T |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,484,155 (GRCm39) |
W403R |
probably damaging |
Het |
| Crppa |
A |
G |
12: 36,571,493 (GRCm39) |
E279G |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,116,362 (GRCm39) |
P1753S |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,604,646 (GRCm39) |
Y1038H |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,478,613 (GRCm39) |
T2553I |
probably damaging |
Het |
| Fem1c |
A |
T |
18: 46,639,263 (GRCm39) |
N246K |
probably benign |
Het |
| Frmd8 |
T |
A |
19: 5,919,510 (GRCm39) |
Q179L |
probably benign |
Het |
| Gbp10 |
A |
G |
5: 105,372,217 (GRCm39) |
F181S |
probably damaging |
Het |
| Hfe |
T |
C |
13: 23,888,391 (GRCm39) |
Y265C |
probably damaging |
Het |
| Kifap3 |
A |
G |
1: 163,656,765 (GRCm39) |
N362D |
possibly damaging |
Het |
| Lima1 |
A |
G |
15: 99,717,617 (GRCm39) |
F130L |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,757,743 (GRCm39) |
V242E |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,354,127 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
C |
G |
1: 170,165,781 (GRCm39) |
E161Q |
probably damaging |
Het |
| Or1q1 |
A |
T |
2: 36,886,896 (GRCm39) |
I25F |
probably benign |
Het |
| Or2t43 |
A |
T |
11: 58,457,580 (GRCm39) |
M197K |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,661,576 (GRCm39) |
V611I |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,919,376 (GRCm39) |
I300V |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,490,407 (GRCm39) |
D849G |
possibly damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Prr14l |
G |
T |
5: 32,987,626 (GRCm39) |
A623D |
probably benign |
Het |
| Rab43 |
A |
C |
6: 87,788,363 (GRCm39) |
|
probably null |
Het |
| Sart3 |
G |
A |
5: 113,884,068 (GRCm39) |
T648M |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,460 (GRCm39) |
D1803G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,848 (GRCm39) |
S30T |
possibly damaging |
Het |
| Sez6l2 |
G |
A |
7: 126,557,513 (GRCm39) |
G309E |
probably damaging |
Het |
| Snx14 |
A |
C |
9: 88,295,591 (GRCm39) |
D191E |
probably damaging |
Het |
| Susd4 |
A |
G |
1: 182,681,678 (GRCm39) |
N173S |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tgfbrap1 |
G |
T |
1: 43,093,816 (GRCm39) |
Q559K |
probably benign |
Het |
| Tmco1 |
T |
C |
1: 167,153,506 (GRCm39) |
S129P |
possibly damaging |
Het |
| Tmprss11a |
T |
C |
5: 86,576,561 (GRCm39) |
T97A |
probably benign |
Het |
| Tnni3k |
G |
A |
3: 154,533,145 (GRCm39) |
A774V |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,470,785 (GRCm39) |
S925P |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,553,993 (GRCm39) |
V3494A |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,266 (GRCm39) |
D461G |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,432,264 (GRCm39) |
C2344* |
probably null |
Het |
| Zfp629 |
A |
G |
7: 127,210,036 (GRCm39) |
I591T |
probably benign |
Het |
| Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
| Zmym1 |
A |
T |
4: 126,942,177 (GRCm39) |
I737N |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 128,019,740 (GRCm39) |
M1V |
probably null |
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 |
|
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'- GGCAGAGATAAGTTTCCAAGTCCCG -3'
(R):5'- GATGACATCTGACTGCTCTAGCACC -3'
Sequencing Primer
(F):5'- ATCTGTCTCACACGTTACGAAG -3'
(R):5'- GCTCTAGCACCTCTGCCAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation