Incidental Mutation 'R5663:Sox6'
ID |
444206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox6
|
Ensembl Gene |
ENSMUSG00000051910 |
Gene Name |
SRY (sex determining region Y)-box 6 |
Synonyms |
|
MMRRC Submission |
043306-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5663 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
115070107-115638031 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115149289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 404
(I404L)
|
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 benign
Transcript: ENSMUST00000072804
AA Change: I403L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072583 Gene: ENSMUSG00000051910 AA Change: I403L
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
AA Change: I361L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102223 Gene: ENSMUSG00000051910 AA Change: I361L
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 benign
Transcript: ENSMUST00000166207
AA Change: I403L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129027 Gene: ENSMUSG00000051910 AA Change: I403L
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
AA Change: I363L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129512 Gene: ENSMUSG00000051910 AA Change: I363L
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
AA Change: I363L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126404 Gene: ENSMUSG00000051910 AA Change: I363L
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: ENSMUST00000205405
AA Change: I404L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205980
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206034
AA Change: I362L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206369
AA Change: I404L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206573
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
T |
C |
5: 50,156,627 (GRCm39) |
N368D |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,871,173 (GRCm39) |
S444R |
probably damaging |
Het |
Arhgap44 |
A |
T |
11: 64,915,117 (GRCm39) |
F384I |
probably damaging |
Het |
Atp8b2 |
T |
C |
3: 89,849,101 (GRCm39) |
N1078D |
probably benign |
Het |
Bcan |
G |
A |
3: 87,902,920 (GRCm39) |
T286I |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,845,297 (GRCm39) |
L624P |
probably damaging |
Het |
Ccn5 |
G |
A |
2: 163,667,173 (GRCm39) |
R58Q |
probably damaging |
Het |
Cimip1 |
C |
T |
2: 173,369,690 (GRCm39) |
P68L |
probably damaging |
Het |
Dnah7c |
C |
A |
1: 46,574,308 (GRCm39) |
F994L |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,254,620 (GRCm39) |
I12V |
possibly damaging |
Het |
Edil3 |
A |
G |
13: 89,190,627 (GRCm39) |
I101M |
probably damaging |
Het |
Elapor1 |
T |
C |
3: 108,399,399 (GRCm39) |
T64A |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,497,735 (GRCm39) |
V255A |
probably damaging |
Het |
Fhip1a |
T |
C |
3: 85,579,740 (GRCm39) |
T822A |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,206,360 (GRCm39) |
S137P |
probably benign |
Het |
H2-Eb2 |
T |
C |
17: 34,552,382 (GRCm39) |
F76L |
possibly damaging |
Het |
Helb |
A |
G |
10: 119,941,698 (GRCm39) |
I330T |
possibly damaging |
Het |
Il18rap |
T |
A |
1: 40,570,717 (GRCm39) |
C220S |
probably damaging |
Het |
Kdm4c |
T |
C |
4: 74,317,585 (GRCm39) |
V966A |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,558,373 (GRCm39) |
V1460A |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,820,916 (GRCm39) |
|
probably null |
Het |
Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,503,949 (GRCm39) |
V497A |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,271,688 (GRCm39) |
E621G |
possibly damaging |
Het |
Mier1 |
T |
A |
4: 103,007,739 (GRCm39) |
S285T |
probably damaging |
Het |
Mroh6 |
A |
G |
15: 75,760,437 (GRCm39) |
S46P |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,472,155 (GRCm39) |
Q395L |
probably damaging |
Het |
Ndufb5 |
T |
C |
3: 32,801,898 (GRCm39) |
I86T |
possibly damaging |
Het |
Nelfb |
T |
A |
2: 25,093,501 (GRCm39) |
E417V |
probably benign |
Het |
Nfkb1 |
T |
G |
3: 135,309,612 (GRCm39) |
D494A |
possibly damaging |
Het |
Nid1 |
G |
A |
13: 13,647,419 (GRCm39) |
C395Y |
probably damaging |
Het |
Nr4a3 |
G |
T |
4: 48,055,931 (GRCm39) |
R319I |
probably damaging |
Het |
Or2ag13 |
T |
A |
7: 106,472,877 (GRCm39) |
T192S |
probably benign |
Het |
Or4e1 |
A |
T |
14: 52,701,052 (GRCm39) |
I138K |
probably benign |
Het |
Or6f2 |
G |
A |
7: 139,756,234 (GRCm39) |
C67Y |
probably damaging |
Het |
Paqr5 |
A |
G |
9: 61,876,144 (GRCm39) |
V130A |
probably benign |
Het |
Phlpp2 |
G |
A |
8: 110,630,976 (GRCm39) |
V207I |
probably benign |
Het |
Pik3ca |
C |
T |
3: 32,516,928 (GRCm39) |
T1052M |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,255,187 (GRCm39) |
Y347H |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,035,142 (GRCm39) |
H1964R |
probably damaging |
Het |
Rassf7 |
C |
T |
7: 140,797,003 (GRCm39) |
T72I |
probably damaging |
Het |
Rfx3 |
A |
G |
19: 27,771,017 (GRCm39) |
F603S |
probably damaging |
Het |
Slc27a4 |
T |
A |
2: 29,702,382 (GRCm39) |
V477D |
probably damaging |
Het |
Slc9a3 |
A |
C |
13: 74,311,831 (GRCm39) |
D593A |
probably damaging |
Het |
Smyd1 |
A |
G |
6: 71,216,705 (GRCm39) |
I14T |
probably benign |
Het |
Tas2r121 |
G |
A |
6: 132,677,520 (GRCm39) |
H151Y |
probably benign |
Het |
Tgfb1 |
C |
T |
7: 25,393,706 (GRCm39) |
T192M |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
Whrn |
T |
A |
4: 63,336,685 (GRCm39) |
N626Y |
probably damaging |
Het |
Xrra1 |
T |
A |
7: 99,535,250 (GRCm39) |
I185N |
probably damaging |
Het |
Zfp94 |
G |
A |
7: 24,002,252 (GRCm39) |
R397W |
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 |
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'- AACACCTGCTTCTCAGTGC -3'
(R):5'- CTGTTATCTGACAATACGGTAAGGG -3'
Sequencing Primer
(F):5'- CATCCCTATAAAGAGGCACATTTGGG -3'
(R):5'- AGACCGATGTTTGCCTTC -3'
|
Posted On |
2016-11-09 |