Incidental Mutation 'R4319:Sox6'
ID |
324133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
MMRRC Submission |
041660-MU
|
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4319 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
115470872-116038796 bp(-) (GRCm38) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 115580563 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072804]
[ENSMUST00000106612]
[ENSMUST00000166207]
[ENSMUST00000166877]
[ENSMUST00000169129]
[ENSMUST00000205405]
[ENSMUST00000206034]
[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: 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 |
noncoding transcript
Transcript: ENSMUST00000205980
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206034
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206369
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206775
|
Meta Mutation Damage Score |
0.9485  |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
94% (31/33) |
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn7l2 |
A |
T |
3: 108,205,832 |
D218E |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,916,406 |
P169S |
probably damaging |
Het |
Cacna1c |
A |
C |
6: 118,654,369 |
I1148S |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,033,543 |
K530* |
probably null |
Het |
Ccdc191 |
A |
G |
16: 43,947,509 |
E624G |
probably damaging |
Het |
Cep290 |
A |
C |
10: 100,539,047 |
H1385P |
probably benign |
Het |
Chrd |
A |
G |
16: 20,737,048 |
H545R |
probably damaging |
Het |
Dgkb |
A |
G |
12: 38,438,599 |
I655V |
probably damaging |
Het |
Gm15448 |
A |
G |
7: 3,822,755 |
S372P |
possibly damaging |
Het |
Gm2663 |
G |
T |
6: 40,997,596 |
Q87K |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,818,552 |
|
probably benign |
Het |
Kif11 |
T |
C |
19: 37,384,585 |
V84A |
probably damaging |
Het |
Klf2 |
A |
G |
8: 72,320,161 |
T270A |
probably benign |
Het |
Lemd2 |
A |
G |
17: 27,201,677 |
M254T |
possibly damaging |
Het |
Luc7l |
A |
T |
17: 26,277,619 |
|
probably benign |
Het |
Mapk11 |
T |
C |
15: 89,146,743 |
E71G |
probably damaging |
Het |
Mcoln2 |
G |
A |
3: 146,150,011 |
|
probably null |
Het |
Olfr1392 |
G |
A |
11: 49,293,676 |
M118I |
probably damaging |
Het |
Pygb |
G |
T |
2: 150,815,614 |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,147,663 |
C537R |
probably damaging |
Het |
Spty2d1 |
T |
C |
7: 46,998,135 |
S349G |
probably damaging |
Het |
Srbd1 |
A |
T |
17: 86,051,150 |
V657D |
probably damaging |
Het |
Tspo2 |
G |
T |
17: 48,449,843 |
|
probably benign |
Het |
Ufsp2 |
A |
G |
8: 45,995,627 |
T422A |
possibly damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,926,982 |
F469S |
probably benign |
Het |
Wdr46 |
A |
G |
17: 33,940,744 |
T3A |
probably benign |
Het |
|
Other mutations in Sox6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00518:Sox6
|
APN |
7 |
115477206 |
missense |
probably benign |
|
IGL00957:Sox6
|
APN |
7 |
115777092 |
missense |
probably damaging |
1.00 |
IGL01624:Sox6
|
APN |
7 |
115476968 |
missense |
probably damaging |
1.00 |
IGL02057:Sox6
|
APN |
7 |
115550075 |
missense |
probably damaging |
1.00 |
IGL02385:Sox6
|
APN |
7 |
115550039 |
missense |
possibly damaging |
0.77 |
IGL02410:Sox6
|
APN |
7 |
115486744 |
missense |
probably damaging |
1.00 |
IGL02736:Sox6
|
APN |
7 |
115580640 |
missense |
probably damaging |
1.00 |
IGL02747:Sox6
|
APN |
7 |
115489746 |
missense |
probably damaging |
1.00 |
IGL02792:Sox6
|
APN |
7 |
115541649 |
missense |
probably benign |
|
PIT4480001:Sox6
|
UTSW |
7 |
115597509 |
missense |
probably benign |
0.03 |
R0458:Sox6
|
UTSW |
7 |
115489794 |
missense |
probably damaging |
1.00 |
R0689:Sox6
|
UTSW |
7 |
115486551 |
missense |
probably damaging |
1.00 |
R0800:Sox6
|
UTSW |
7 |
115579014 |
critical splice donor site |
probably null |
|
R1220:Sox6
|
UTSW |
7 |
115662442 |
missense |
probably damaging |
1.00 |
R1474:Sox6
|
UTSW |
7 |
115701691 |
splice site |
probably benign |
|
R1547:Sox6
|
UTSW |
7 |
115701722 |
missense |
possibly damaging |
0.93 |
R1570:Sox6
|
UTSW |
7 |
115777123 |
missense |
probably damaging |
1.00 |
R1674:Sox6
|
UTSW |
7 |
115801419 |
missense |
probably benign |
0.00 |
R1704:Sox6
|
UTSW |
7 |
115476948 |
missense |
possibly damaging |
0.92 |
R1754:Sox6
|
UTSW |
7 |
115477055 |
missense |
probably benign |
|
R1833:Sox6
|
UTSW |
7 |
115777093 |
missense |
probably damaging |
1.00 |
R1868:Sox6
|
UTSW |
7 |
115659538 |
missense |
possibly damaging |
0.89 |
R1893:Sox6
|
UTSW |
7 |
115544568 |
missense |
probably benign |
0.28 |
R2386:Sox6
|
UTSW |
7 |
115597505 |
missense |
probably damaging |
1.00 |
R2431:Sox6
|
UTSW |
7 |
115550007 |
splice site |
probably null |
|
R4303:Sox6
|
UTSW |
7 |
115544469 |
critical splice donor site |
probably null |
|
R4320:Sox6
|
UTSW |
7 |
115580563 |
critical splice donor site |
probably null |
|
R4321:Sox6
|
UTSW |
7 |
115580563 |
critical splice donor site |
probably null |
|
R4323:Sox6
|
UTSW |
7 |
115580563 |
critical splice donor site |
probably null |
|
R4335:Sox6
|
UTSW |
7 |
115512724 |
missense |
probably benign |
|
R4567:Sox6
|
UTSW |
7 |
115662322 |
missense |
probably benign |
0.26 |
R4776:Sox6
|
UTSW |
7 |
115541670 |
missense |
probably damaging |
1.00 |
R4838:Sox6
|
UTSW |
7 |
115486662 |
missense |
probably damaging |
1.00 |
R4914:Sox6
|
UTSW |
7 |
115476964 |
missense |
probably damaging |
1.00 |
R4915:Sox6
|
UTSW |
7 |
115476964 |
missense |
probably damaging |
1.00 |
R5184:Sox6
|
UTSW |
7 |
115777228 |
missense |
probably damaging |
1.00 |
R5372:Sox6
|
UTSW |
7 |
115550151 |
nonsense |
probably null |
|
R5454:Sox6
|
UTSW |
7 |
115701773 |
missense |
possibly damaging |
0.89 |
R5663:Sox6
|
UTSW |
7 |
115550054 |
missense |
probably benign |
|
R5685:Sox6
|
UTSW |
7 |
115579157 |
splice site |
probably null |
|
R5734:Sox6
|
UTSW |
7 |
115541621 |
critical splice donor site |
probably null |
|
R6020:Sox6
|
UTSW |
7 |
115486628 |
missense |
probably damaging |
1.00 |
R6211:Sox6
|
UTSW |
7 |
115801462 |
missense |
probably damaging |
1.00 |
R6263:Sox6
|
UTSW |
7 |
115477060 |
missense |
probably damaging |
1.00 |
R6549:Sox6
|
UTSW |
7 |
115486692 |
missense |
possibly damaging |
0.79 |
R6576:Sox6
|
UTSW |
7 |
115701702 |
missense |
probably damaging |
0.96 |
R6680:Sox6
|
UTSW |
7 |
115476983 |
missense |
possibly damaging |
0.94 |
R6709:Sox6
|
UTSW |
7 |
115701789 |
splice site |
probably null |
|
R6747:Sox6
|
UTSW |
7 |
115541731 |
missense |
probably damaging |
1.00 |
R6755:Sox6
|
UTSW |
7 |
115662442 |
missense |
probably damaging |
0.99 |
R7233:Sox6
|
UTSW |
7 |
115489809 |
missense |
possibly damaging |
0.80 |
R7423:Sox6
|
UTSW |
7 |
115550023 |
missense |
probably benign |
0.30 |
R7455:Sox6
|
UTSW |
7 |
115489669 |
missense |
probably benign |
0.02 |
R7522:Sox6
|
UTSW |
7 |
115801578 |
missense |
probably damaging |
1.00 |
R7527:Sox6
|
UTSW |
7 |
115777173 |
missense |
probably benign |
0.00 |
R7852:Sox6
|
UTSW |
7 |
115801604 |
start codon destroyed |
probably null |
1.00 |
R7936:Sox6
|
UTSW |
7 |
115544595 |
missense |
probably benign |
|
R8278:Sox6
|
UTSW |
7 |
115476964 |
missense |
probably damaging |
1.00 |
R8335:Sox6
|
UTSW |
7 |
115701714 |
missense |
probably damaging |
1.00 |
R8558:Sox6
|
UTSW |
7 |
115541798 |
missense |
probably benign |
0.12 |
R8682:Sox6
|
UTSW |
7 |
115476956 |
missense |
probably damaging |
1.00 |
R8693:Sox6
|
UTSW |
7 |
115662397 |
missense |
probably damaging |
0.99 |
R8712:Sox6
|
UTSW |
7 |
115597508 |
missense |
probably benign |
0.00 |
R8972:Sox6
|
UTSW |
7 |
115476983 |
nonsense |
probably null |
|
R9297:Sox6
|
UTSW |
7 |
115662322 |
missense |
probably benign |
0.26 |
R9318:Sox6
|
UTSW |
7 |
115662322 |
missense |
probably benign |
0.26 |
R9517:Sox6
|
UTSW |
7 |
115512735 |
missense |
possibly damaging |
0.79 |
R9688:Sox6
|
UTSW |
7 |
115476990 |
missense |
probably benign |
|
X0061:Sox6
|
UTSW |
7 |
115477148 |
missense |
probably benign |
0.00 |
X0065:Sox6
|
UTSW |
7 |
115550108 |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTTTAAAGCCGGCTGGAAC -3'
(R):5'- AAGCCTTTTGTTTCTGCAGATG -3'
Sequencing Primer
(F):5'- GCTGGAACTGGCACCTTTC -3'
(R):5'- CAATGTTGTAAAGCTCAGGCGATCC -3'
|
Posted On |
2015-06-24 |