Incidental Mutation 'R5685:Sox6'
ID |
443286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5685 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 115178392 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]
[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 benign
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 benign
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 benign
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: ENSMUST00000206775
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206034
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206369
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028J19Rik |
T |
A |
7: 43,879,974 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
A |
T |
12: 118,896,348 (GRCm39) |
|
probably null |
Het |
Abcg1 |
G |
T |
17: 31,317,260 (GRCm39) |
E191* |
probably null |
Het |
Als2 |
A |
G |
1: 59,218,250 (GRCm39) |
Y1263H |
possibly damaging |
Het |
Amer2 |
T |
A |
14: 60,617,026 (GRCm39) |
L281* |
probably null |
Het |
Anxa6 |
T |
C |
11: 54,887,196 (GRCm39) |
N361D |
probably benign |
Het |
Ap1g1 |
A |
T |
8: 110,564,415 (GRCm39) |
N320I |
probably damaging |
Het |
Aqr |
T |
C |
2: 113,986,746 (GRCm39) |
D208G |
possibly damaging |
Het |
Arnt2 |
T |
C |
7: 83,912,473 (GRCm39) |
T545A |
probably benign |
Het |
Aspm |
G |
A |
1: 139,415,026 (GRCm39) |
V2701I |
probably benign |
Het |
Atad2 |
A |
G |
15: 57,980,194 (GRCm39) |
V106A |
possibly damaging |
Het |
Bbs2 |
A |
C |
8: 94,814,061 (GRCm39) |
F186V |
probably damaging |
Het |
Catsperg2 |
G |
A |
7: 29,400,613 (GRCm39) |
P247L |
probably damaging |
Het |
Cfap57 |
G |
T |
4: 118,426,656 (GRCm39) |
Q1098K |
probably benign |
Het |
Cxcr6 |
A |
G |
9: 123,639,811 (GRCm39) |
T271A |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,374,091 (GRCm39) |
E579G |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,421,932 (GRCm39) |
T2111A |
probably damaging |
Het |
Galnt1 |
A |
T |
18: 24,397,586 (GRCm39) |
D229V |
possibly damaging |
Het |
Gbp2b |
A |
C |
3: 142,313,919 (GRCm39) |
M400L |
probably benign |
Het |
Gm1123 |
T |
A |
9: 98,891,486 (GRCm39) |
|
probably null |
Het |
Gtpbp6 |
T |
C |
5: 110,252,805 (GRCm39) |
H349R |
probably damaging |
Het |
Hyal5 |
A |
G |
6: 24,876,691 (GRCm39) |
K188R |
probably benign |
Het |
Insrr |
T |
C |
3: 87,707,803 (GRCm39) |
|
probably null |
Het |
Kcnn1 |
A |
T |
8: 71,305,374 (GRCm39) |
C322S |
probably damaging |
Het |
Kdelr1 |
GTCTA |
G |
7: 45,531,041 (GRCm39) |
|
probably null |
Het |
Kif23 |
T |
C |
9: 61,852,691 (GRCm39) |
T8A |
probably benign |
Het |
Lrrk2 |
A |
T |
15: 91,687,504 (GRCm39) |
R2198* |
probably null |
Het |
Mcl1 |
T |
G |
3: 95,567,109 (GRCm39) |
D177E |
possibly damaging |
Het |
Mrps11 |
A |
T |
7: 78,441,628 (GRCm39) |
T137S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,426,168 (GRCm39) |
Y90C |
probably damaging |
Het |
Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
Nxt1 |
G |
T |
2: 148,517,673 (GRCm39) |
W138L |
possibly damaging |
Het |
Or5al1 |
T |
C |
2: 85,990,139 (GRCm39) |
T192A |
probably damaging |
Het |
Or5h17 |
T |
A |
16: 58,820,709 (GRCm39) |
F220L |
probably benign |
Het |
Or5t17 |
T |
A |
2: 86,832,621 (GRCm39) |
S103T |
probably benign |
Het |
Osbpl7 |
C |
A |
11: 96,951,103 (GRCm39) |
P478H |
probably damaging |
Het |
Phf8-ps |
T |
A |
17: 33,285,746 (GRCm39) |
H352L |
probably benign |
Het |
Pitpna |
T |
A |
11: 75,511,095 (GRCm39) |
F222I |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,877,310 (GRCm39) |
R552W |
probably damaging |
Het |
Plxnb2 |
C |
T |
15: 89,051,235 (GRCm39) |
R328H |
probably damaging |
Het |
Pmaip1 |
C |
T |
18: 66,594,055 (GRCm39) |
T65I |
probably benign |
Het |
Ppil4 |
T |
G |
10: 7,674,186 (GRCm39) |
I110S |
probably damaging |
Het |
Prpf38a |
A |
G |
4: 108,427,351 (GRCm39) |
|
probably null |
Het |
Psme4 |
G |
A |
11: 30,759,837 (GRCm39) |
G320D |
probably damaging |
Het |
Rab17 |
C |
A |
1: 90,886,679 (GRCm39) |
R191L |
probably benign |
Het |
Rhag |
A |
T |
17: 41,142,222 (GRCm39) |
M222L |
possibly damaging |
Het |
Rims2 |
A |
T |
15: 39,300,602 (GRCm39) |
H111L |
possibly damaging |
Het |
Setx |
T |
C |
2: 29,061,292 (GRCm39) |
Y2234H |
probably damaging |
Het |
Slc2a8 |
T |
C |
2: 32,871,801 (GRCm39) |
I51V |
possibly damaging |
Het |
Slc34a1 |
T |
C |
13: 55,549,085 (GRCm39) |
|
probably null |
Het |
Slf1 |
T |
C |
13: 77,231,598 (GRCm39) |
T594A |
possibly damaging |
Het |
Spata13 |
C |
T |
14: 60,928,652 (GRCm39) |
S70L |
probably benign |
Het |
Stard13 |
A |
G |
5: 150,986,592 (GRCm39) |
I188T |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,535,803 (GRCm39) |
D4020G |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,868,611 (GRCm39) |
K255R |
possibly damaging |
Het |
Tns2 |
G |
T |
15: 102,015,538 (GRCm39) |
A124S |
probably benign |
Het |
Top2b |
T |
A |
14: 16,413,666 (GRCm38) |
W1045R |
probably damaging |
Het |
Trav12-2 |
T |
C |
14: 53,854,122 (GRCm39) |
V32A |
probably damaging |
Het |
Vps13c |
G |
T |
9: 67,870,455 (GRCm39) |
R3198L |
possibly damaging |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Zfp52 |
T |
A |
17: 21,782,013 (GRCm39) |
S620R |
probably benign |
Het |
Zfp62 |
T |
A |
11: 49,107,044 (GRCm39) |
C378* |
probably null |
Het |
Zfp638 |
C |
A |
6: 83,906,969 (GRCm39) |
P378H |
probably 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 |
|
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'- GCTGTTTGCCACTTTTCAAAAGG -3'
(R):5'- AGCTAGCTGTACTGTGGTGC -3'
Sequencing Primer
(F):5'- GGCCTAAAATATGCTGGAAACATC -3'
(R):5'- ATGTGGTCTATACCCTGC -3'
|
Posted On |
2016-11-09 |