Incidental Mutation 'IGL01417:Sox8'
ID |
80442 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sox8
|
Ensembl Gene |
ENSMUSG00000024176 |
Gene Name |
SRY (sex determining region Y)-box 8 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01417
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
25784866-25789660 bp(-) (GRCm39) |
Type of Mutation |
splice site (460 bp from exon) |
DNA Base Change (assembly) |
A to C
at 25786502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025003]
[ENSMUST00000173447]
|
AlphaFold |
Q04886 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025003
AA Change: D400E
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000025003 Gene: ENSMUSG00000024176 AA Change: D400E
Domain | Start | End | E-Value | Type |
Pfam:Sox_N
|
18 |
86 |
3.8e-27 |
PFAM |
HMG
|
98 |
168 |
3.86e-28 |
SMART |
low complexity region
|
208 |
228 |
N/A |
INTRINSIC |
low complexity region
|
303 |
321 |
N/A |
INTRINSIC |
low complexity region
|
375 |
397 |
N/A |
INTRINSIC |
low complexity region
|
407 |
425 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163493
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173447
|
SMART Domains |
Protein: ENSMUSP00000133403 Gene: ENSMUSG00000024176
Domain | Start | End | E-Value | Type |
Pfam:Sox_N
|
3 |
87 |
3.3e-25 |
PFAM |
HMG
|
98 |
168 |
3.86e-28 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174560
|
SMART Domains |
Protein: ENSMUSP00000133742 Gene: ENSMUSG00000024176
Domain | Start | End | E-Value | Type |
HMG
|
1 |
66 |
1.19e-19 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa13 |
T |
A |
15: 58,228,043 (GRCm39) |
|
noncoding transcript |
Het |
Ctdsp2 |
T |
C |
10: 126,829,743 (GRCm39) |
I125T |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,623,759 (GRCm39) |
K1044E |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,570,898 (GRCm39) |
Y44C |
probably damaging |
Het |
Elmo1 |
T |
C |
13: 20,435,345 (GRCm39) |
|
probably null |
Het |
Flnb |
T |
C |
14: 7,905,513 (GRCm38) |
S1088P |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,087,520 (GRCm39) |
|
probably benign |
Het |
Fv1 |
T |
A |
4: 147,953,786 (GRCm39) |
C117* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,734,990 (GRCm39) |
D174G |
probably damaging |
Het |
Htatip2 |
G |
A |
7: 49,420,573 (GRCm39) |
V140I |
possibly damaging |
Het |
Mill1 |
G |
T |
7: 17,998,708 (GRCm39) |
R306L |
probably benign |
Het |
Myoz2 |
G |
A |
3: 122,800,081 (GRCm39) |
T249I |
possibly damaging |
Het |
Nrdc |
T |
C |
4: 108,858,027 (GRCm39) |
|
probably benign |
Het |
Or2r3 |
T |
A |
6: 42,449,046 (GRCm39) |
H22L |
probably benign |
Het |
Pcbp1 |
T |
C |
6: 86,502,836 (GRCm39) |
H21R |
probably damaging |
Het |
Pdcd2l |
A |
C |
7: 33,892,170 (GRCm39) |
L221R |
probably damaging |
Het |
Ppp1r3b |
A |
G |
8: 35,851,566 (GRCm39) |
E135G |
probably damaging |
Het |
Rbsn |
T |
C |
6: 92,184,100 (GRCm39) |
E71G |
possibly damaging |
Het |
Shc3 |
T |
C |
13: 51,585,200 (GRCm39) |
R472G |
probably benign |
Het |
Tacr3 |
G |
T |
3: 134,535,242 (GRCm39) |
W70L |
possibly damaging |
Het |
Tacr3 |
A |
T |
3: 134,535,307 (GRCm39) |
I92F |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,138,111 (GRCm39) |
N1156S |
probably damaging |
Het |
Upk3b |
T |
C |
5: 136,067,920 (GRCm39) |
I37T |
possibly damaging |
Het |
Vmn1r35 |
T |
A |
6: 66,656,191 (GRCm39) |
I160F |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,522,377 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Sox8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01918:Sox8
|
APN |
17 |
25,789,111 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02672:Sox8
|
APN |
17 |
25,787,963 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03371:Sox8
|
APN |
17 |
25,786,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Sox8
|
UTSW |
17 |
25,786,857 (GRCm39) |
missense |
probably benign |
0.01 |
R1673:Sox8
|
UTSW |
17 |
25,786,456 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1742:Sox8
|
UTSW |
17 |
25,786,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R4019:Sox8
|
UTSW |
17 |
25,789,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Sox8
|
UTSW |
17 |
25,786,309 (GRCm39) |
makesense |
probably null |
|
R4466:Sox8
|
UTSW |
17 |
25,787,879 (GRCm39) |
missense |
probably benign |
0.37 |
R4893:Sox8
|
UTSW |
17 |
25,787,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R4929:Sox8
|
UTSW |
17 |
25,789,330 (GRCm39) |
missense |
probably benign |
0.21 |
R5915:Sox8
|
UTSW |
17 |
25,786,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Sox8
|
UTSW |
17 |
25,786,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Sox8
|
UTSW |
17 |
25,786,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Sox8
|
UTSW |
17 |
25,789,082 (GRCm39) |
critical splice donor site |
probably null |
|
R7232:Sox8
|
UTSW |
17 |
25,786,514 (GRCm39) |
missense |
probably benign |
0.01 |
R7549:Sox8
|
UTSW |
17 |
25,786,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R8262:Sox8
|
UTSW |
17 |
25,786,617 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8862:Sox8
|
UTSW |
17 |
25,787,045 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9015:Sox8
|
UTSW |
17 |
25,789,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9109:Sox8
|
UTSW |
17 |
25,787,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9387:Sox8
|
UTSW |
17 |
25,786,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R9406:Sox8
|
UTSW |
17 |
25,786,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R9646:Sox8
|
UTSW |
17 |
25,786,871 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Sox8
|
UTSW |
17 |
25,787,958 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Sox8
|
UTSW |
17 |
25,786,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-11-05 |