Incidental Mutation 'R4303:Sox6'
| ID |
322499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox6
|
| Ensembl Gene |
ENSMUSG00000051910 |
| Gene Name |
SRY (sex determining region Y)-box 6 |
| Synonyms |
|
| MMRRC Submission |
041090-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 115143704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072804]
[ENSMUST00000106612]
[ENSMUST00000166207]
[ENSMUST00000166877]
[ENSMUST00000166877]
[ENSMUST00000169129]
[ENSMUST00000205405]
[ENSMUST00000205405]
[ENSMUST00000206034]
[ENSMUST00000206034]
[ENSMUST00000206369]
[ENSMUST00000206369]
|
| AlphaFold |
P40645 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072804
|
| SMART Domains |
Protein: ENSMUSP00000072583
Gene: ENSMUSG00000051910
| 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 null
Transcript: ENSMUST00000106612
|
| SMART Domains |
Protein: ENSMUSP00000102223
Gene: ENSMUSG00000051910
| 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 null
Transcript: ENSMUST00000166207
|
| SMART Domains |
Protein: ENSMUSP00000129027
Gene: ENSMUSG00000051910
| 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 null
Transcript: ENSMUST00000166877
|
| SMART Domains |
Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
| 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 null
Transcript: ENSMUST00000166877
|
| SMART Domains |
Protein: ENSMUSP00000129512
Gene: ENSMUSG00000051910
| 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 null
Transcript: ENSMUST00000169129
|
| SMART Domains |
Protein: ENSMUSP00000126404
Gene: ENSMUSG00000051910
| 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 null
Transcript: ENSMUST00000205405
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205405
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206034
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206775
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206369
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206369
|
| Meta Mutation Damage Score |
0.9749 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,606,055 (GRCm39) |
S247P |
probably damaging |
Het |
| Atg4b |
A |
G |
1: 93,695,984 (GRCm39) |
E41G |
probably benign |
Het |
| Bckdk |
T |
C |
7: 127,504,502 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,507,246 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
A |
G |
17: 56,351,068 (GRCm39) |
D16G |
unknown |
Het |
| Defb12 |
A |
G |
8: 19,162,737 (GRCm39) |
I65T |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,787,738 (GRCm39) |
Y3264H |
probably damaging |
Het |
| Ehhadh |
C |
A |
16: 21,581,602 (GRCm39) |
K463N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,127,724 (GRCm39) |
R901Q |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,777,069 (GRCm39) |
|
probably null |
Het |
| Esp6 |
A |
G |
17: 40,876,035 (GRCm39) |
T28A |
possibly damaging |
Het |
| Gm17333 |
A |
C |
16: 77,649,767 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5a |
T |
C |
12: 52,003,008 (GRCm39) |
T165A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,801,507 (GRCm39) |
I744T |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,055,761 (GRCm39) |
K853E |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,994,239 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k11 |
T |
A |
19: 5,740,852 (GRCm39) |
V193E |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,684 (GRCm39) |
M306L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,549,602 (GRCm39) |
T428A |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,848,621 (GRCm39) |
H174R |
possibly damaging |
Het |
| Or14c40 |
G |
A |
7: 86,313,163 (GRCm39) |
V98M |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,664 (GRCm39) |
M163K |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,494,084 (GRCm39) |
R349* |
probably null |
Het |
| Rfxank |
T |
C |
8: 70,588,862 (GRCm39) |
D89G |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,820,934 (GRCm39) |
L348P |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,991,898 (GRCm39) |
Y701C |
unknown |
Het |
| Six4 |
G |
T |
12: 73,159,314 (GRCm39) |
D207E |
possibly damaging |
Het |
| Slco3a1 |
G |
T |
7: 74,204,276 (GRCm39) |
D21E |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,007,418 (GRCm39) |
N216S |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,334 (GRCm39) |
N392S |
possibly damaging |
Het |
| Tax1bp1 |
T |
C |
6: 52,704,263 (GRCm39) |
V81A |
possibly damaging |
Het |
| Trim29 |
G |
T |
9: 43,222,419 (GRCm39) |
V83L |
probably damaging |
Het |
| Vmn1r90 |
C |
T |
7: 14,295,495 (GRCm39) |
W201* |
probably null |
Het |
| Wdr31 |
T |
A |
4: 62,378,626 (GRCm39) |
N7I |
probably damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,151 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,780,843 (GRCm39) |
K640E |
probably damaging |
Het |
| Zfp579 |
A |
G |
7: 4,996,072 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
A |
7: 27,609,657 (GRCm39) |
K689N |
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 |
|
|
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'- ATGACCAGGATCTGCCATCATC -3'
(R):5'- AGCCGCTGAATCTCTCATC -3'
Sequencing Primer
(F):5'- ATAAAATGGACGCTAGCAGGACTTG -3'
(R):5'- GAATCTCTCATCCCGGCCTAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation