Incidental Mutation 'R4320:Sox6'
| ID |
323774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox6
|
| Ensembl Gene |
ENSMUSG00000051910 |
| Gene Name |
SRY (sex determining region Y)-box 6 |
| Synonyms |
|
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4320 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 115179798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 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: 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 benign
Transcript: ENSMUST00000205479
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206369
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TTAAAGCCGGCTGGAACTGG -3'
(R):5'- ACTAAGCCTTTTGTTTCTGCAG -3'
Sequencing Primer
(F):5'- GCTGGAACTGGCACCTTTC -3'
(R):5'- CAATGTTGTAAAGCTCAGGCGATCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation