Incidental Mutation 'IGL00333:Sox4'
| ID |
332302 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sox4
|
| Ensembl Gene |
ENSMUSG00000076431 |
| Gene Name |
SRY (sex determining region Y)-box 4 |
| Synonyms |
Sox-4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
29132902-29137682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29136956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 17
(G17W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067230]
|
| AlphaFold |
Q06831 |
| PDB Structure |
Structure of the Sox4 HMG domain bound to DNA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067230
AA Change: G17W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: G17W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
HMG
|
58 |
128 |
3.66e-29 |
SMART |
|
low complexity region
|
132 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
253 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
268 |
285 |
7.33e-5 |
PROSPERO |
|
internal_repeat_1
|
278 |
295 |
7.33e-5 |
PROSPERO |
|
low complexity region
|
304 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180992
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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 regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
T |
C |
9: 74,933,072 (GRCm39) |
I1006T |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bag6 |
T |
G |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Ccdc8 |
T |
A |
7: 16,729,967 (GRCm39) |
D485E |
unknown |
Het |
| Cyp2c54 |
A |
C |
19: 40,060,522 (GRCm39) |
V153G |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,816,880 (GRCm39) |
T499S |
possibly damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,549,537 (GRCm39) |
*107R |
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Klk1b27 |
T |
A |
7: 43,705,567 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
C |
A |
17: 71,550,967 (GRCm39) |
T709K |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,849,017 (GRCm39) |
L945P |
probably benign |
Het |
| Lrrn4 |
C |
T |
2: 132,712,737 (GRCm39) |
C362Y |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,320 (GRCm39) |
S184P |
probably damaging |
Het |
| Nr2f1 |
A |
T |
13: 78,337,952 (GRCm39) |
V231E |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,474 (GRCm39) |
Y216* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,452,522 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
C |
12: 9,629,432 (GRCm39) |
I102L |
probably benign |
Het |
| Pcbd1 |
A |
T |
10: 60,927,949 (GRCm39) |
Q37L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,571,691 (GRCm39) |
Q359* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,387,895 (GRCm39) |
|
probably null |
Het |
| Speer4a2 |
A |
G |
5: 26,291,491 (GRCm39) |
M105T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,447,387 (GRCm39) |
T2184A |
probably benign |
Het |
| Synpo2 |
C |
T |
3: 122,906,859 (GRCm39) |
G819D |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,654 (GRCm39) |
V180A |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,433,210 (GRCm39) |
D324G |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,606,970 (GRCm39) |
L328* |
probably null |
Het |
| Tmem253 |
T |
C |
14: 52,255,418 (GRCm39) |
L76P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,623 (GRCm39) |
V46I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,779,425 (GRCm39) |
F1152I |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,257,101 (GRCm39) |
V139A |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,351,597 (GRCm39) |
D212G |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,574 (GRCm39) |
L1622Q |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,364 (GRCm39) |
T162A |
probably damaging |
Het |
|
| Other mutations in Sox4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00164:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00229:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00230:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00231:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00232:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00310:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00335:Sox4
|
APN |
13 |
29,136,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01293:Sox4
|
APN |
13 |
29,136,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01761:Sox4
|
APN |
13 |
29,136,790 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0594:Sox4
|
UTSW |
13 |
29,136,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Sox4
|
UTSW |
13 |
29,136,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Sox4
|
UTSW |
13 |
29,136,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Sox4
|
UTSW |
13 |
29,136,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Sox4
|
UTSW |
13 |
29,136,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5855:Sox4
|
UTSW |
13 |
29,136,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Sox4
|
UTSW |
13 |
29,137,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8811:Sox4
|
UTSW |
13 |
29,136,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9557:Sox4
|
UTSW |
13 |
29,136,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9614:Sox4
|
UTSW |
13 |
29,136,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation