Incidental Mutation 'IGL03371:Sox8'
| ID |
420310 |
| 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 # |
IGL03371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25784866-25789660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25786414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 430
(R430C)
|
| 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: R430C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: R430C
| 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 benign
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 benign
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agk |
C |
T |
6: 40,371,576 (GRCm39) |
R358C |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,981,592 (GRCm39) |
V959F |
possibly damaging |
Het |
| Aoc1 |
C |
T |
6: 48,883,380 (GRCm39) |
R419C |
probably benign |
Het |
| Brf2 |
T |
C |
8: 27,615,872 (GRCm39) |
D171G |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,501,344 (GRCm39) |
I75V |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,078,719 (GRCm39) |
V1199A |
probably damaging |
Het |
| Dpp9 |
G |
A |
17: 56,494,377 (GRCm39) |
H861Y |
probably benign |
Het |
| Eddm3b |
G |
A |
14: 51,354,422 (GRCm39) |
D137N |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,114 (GRCm39) |
I363F |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,434,674 (GRCm39) |
C147S |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,258 (GRCm39) |
E356G |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,990 (GRCm39) |
R361S |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,037,336 (GRCm39) |
I3663F |
possibly damaging |
Het |
| Haus3 |
C |
A |
5: 34,323,687 (GRCm39) |
E308* |
probably null |
Het |
| Ifna11 |
A |
G |
4: 88,738,412 (GRCm39) |
K73E |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,562,104 (GRCm39) |
K664E |
possibly damaging |
Het |
| L3mbtl4 |
G |
A |
17: 68,768,563 (GRCm39) |
V224M |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,051,298 (GRCm39) |
A378D |
probably damaging |
Het |
| Mixl1 |
T |
C |
1: 180,522,191 (GRCm39) |
N230S |
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,171,991 (GRCm39) |
C786* |
probably null |
Het |
| Nup153 |
C |
T |
13: 46,836,628 (GRCm39) |
S1327N |
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,509 (GRCm39) |
T280S |
possibly damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
| Osr2 |
C |
A |
15: 35,301,000 (GRCm39) |
Y185* |
probably null |
Het |
| Ppp1r3b |
T |
C |
8: 35,851,403 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ppp3r2 |
T |
A |
4: 49,681,630 (GRCm39) |
I107F |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,727,846 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,605,538 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
A |
G |
8: 106,677,137 (GRCm39) |
Y466H |
probably null |
Het |
| Slc25a40 |
C |
T |
5: 8,477,442 (GRCm39) |
P9L |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,038,052 (GRCm39) |
S567P |
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,227,791 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,724,725 (GRCm39) |
S365P |
possibly damaging |
Het |
| Tet2 |
T |
A |
3: 133,173,312 (GRCm39) |
H1650L |
possibly damaging |
Het |
| Tmem117 |
G |
A |
15: 94,909,274 (GRCm39) |
R229H |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,216,450 (GRCm39) |
L79P |
probably damaging |
Het |
| Usp54 |
A |
T |
14: 20,639,436 (GRCm39) |
|
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,355,066 (GRCm39) |
C111* |
probably null |
Het |
| Zmym4 |
A |
C |
4: 126,808,881 (GRCm39) |
C389G |
possibly damaging |
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 |
|
IGL02672:Sox8
|
APN |
17 |
25,787,963 (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 |
2016-08-02 |
Incidental Mutation