Incidental Mutation 'IGL02672:Sox8'
ID |
302962 |
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 # |
IGL02672
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
25784866-25789660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25787963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 162
(D162V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025003]
[ENSMUST00000173447]
|
AlphaFold |
Q04886 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025003
AA Change: D162V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025003 Gene: ENSMUSG00000024176 AA Change: D162V
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 damaging
Transcript: ENSMUST00000173447
AA Change: D162V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133403 Gene: ENSMUSG00000024176 AA Change: D162V
Domain | Start | End | E-Value | Type |
Pfam:Sox_N
|
3 |
87 |
3.3e-25 |
PFAM |
HMG
|
98 |
168 |
3.86e-28 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000174560
AA Change: D59V
|
SMART Domains |
Protein: ENSMUSP00000133742 Gene: ENSMUSG00000024176 AA Change: D59V
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Alpi |
A |
G |
1: 87,028,994 (GRCm39) |
L60P |
probably damaging |
Het |
Arpc1a |
A |
C |
5: 145,041,697 (GRCm39) |
I327L |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Dcaf7 |
T |
C |
11: 105,945,684 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
G |
11: 65,818,427 (GRCm39) |
I3304L |
probably benign |
Het |
Dpp10 |
T |
A |
1: 123,304,376 (GRCm39) |
H508L |
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
Enpp7 |
T |
C |
11: 118,883,166 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
C |
A |
8: 85,792,682 (GRCm39) |
|
probably null |
Het |
Foxred2 |
A |
G |
15: 77,829,777 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
C |
T |
11: 83,315,957 (GRCm39) |
R254H |
probably damaging |
Het |
Gatad2b |
C |
T |
3: 90,249,198 (GRCm39) |
L79F |
possibly damaging |
Het |
Igf1r |
A |
T |
7: 67,839,781 (GRCm39) |
D696V |
probably benign |
Het |
Kcnk5 |
A |
G |
14: 20,196,580 (GRCm39) |
I96T |
probably damaging |
Het |
Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
Mcm10 |
T |
C |
2: 5,006,092 (GRCm39) |
T417A |
probably benign |
Het |
Mesp2 |
T |
C |
7: 79,461,145 (GRCm39) |
S157P |
probably benign |
Het |
Naca |
A |
G |
10: 127,876,152 (GRCm39) |
|
probably benign |
Het |
Or5t17 |
A |
T |
2: 86,832,417 (GRCm39) |
M35L |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,359,270 (GRCm39) |
T260A |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,435,170 (GRCm39) |
|
probably null |
Het |
Pdk1 |
T |
C |
2: 71,726,096 (GRCm39) |
S335P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,668,987 (GRCm39) |
N338S |
probably benign |
Het |
Pogz |
G |
A |
3: 94,763,410 (GRCm39) |
V61I |
probably benign |
Het |
Ppp4r1 |
A |
G |
17: 66,147,942 (GRCm39) |
Y928C |
probably damaging |
Het |
Rab17 |
T |
C |
1: 90,886,940 (GRCm39) |
E160G |
probably damaging |
Het |
Rasgrp3 |
T |
A |
17: 75,803,412 (GRCm39) |
F70Y |
probably benign |
Het |
Rere |
T |
A |
4: 150,594,483 (GRCm39) |
N364K |
unknown |
Het |
Ryr1 |
A |
T |
7: 28,703,944 (GRCm39) |
|
probably benign |
Het |
Sae1 |
A |
G |
7: 16,104,273 (GRCm39) |
V112A |
probably damaging |
Het |
Serpinb6d |
C |
T |
13: 33,855,372 (GRCm39) |
H349Y |
probably benign |
Het |
Slc12a1 |
T |
C |
2: 125,012,596 (GRCm39) |
V286A |
probably damaging |
Het |
Smad3 |
A |
T |
9: 63,575,009 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,087,239 (GRCm39) |
F1067L |
probably damaging |
Het |
Tmprss3 |
T |
C |
17: 31,409,981 (GRCm39) |
Y211C |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,409,166 (GRCm38) |
|
probably benign |
Het |
Tpp1 |
A |
T |
7: 105,396,168 (GRCm39) |
H510Q |
probably benign |
Het |
Ugcg |
T |
A |
4: 59,218,587 (GRCm39) |
|
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,818,376 (GRCm39) |
I651N |
probably benign |
Het |
Wdr25 |
A |
T |
12: 108,864,007 (GRCm39) |
K51* |
probably null |
Het |
|
Other mutations in Sox8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01417:Sox8
|
APN |
17 |
25,786,502 (GRCm39) |
splice site |
probably null |
|
IGL01918:Sox8
|
APN |
17 |
25,789,111 (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 |
2015-04-16 |