Incidental Mutation 'IGL00495:Socs4'
| ID |
4207 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Socs4
|
| Ensembl Gene |
ENSMUSG00000048379 |
| Gene Name |
suppressor of cytokine signaling 4 |
| Synonyms |
Socs7, 3110032M18Rik, A730004F22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
IGL00495
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
47514388-47533559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47527709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 215
(V215I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065562]
[ENSMUST00000227413]
|
| AlphaFold |
Q91ZA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065562
AA Change: V215I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379
AA Change: V215I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
Pfam:SOCS
|
55 |
108 |
6.8e-23 |
PFAM |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
SH2
|
281 |
367 |
1.11e-16 |
SMART |
|
SOCS
|
377 |
420 |
1.69e-16 |
SMART |
|
SOCS_box
|
383 |
419 |
1.13e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227413
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
| Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Chrm2 |
A |
T |
6: 36,500,355 (GRCm39) |
I71F |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
| Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
G |
T |
6: 88,199,836 (GRCm39) |
R124L |
possibly damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
| Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
| Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
| Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
| Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
| Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,579,249 (GRCm39) |
T76I |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
| Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,162 (GRCm39) |
H221L |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
| Ppp4r3b |
A |
C |
11: 29,161,782 (GRCm39) |
T719P |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
| Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
| Twf1 |
C |
T |
15: 94,478,817 (GRCm39) |
|
probably benign |
Het |
| Vrk3 |
A |
T |
7: 44,419,071 (GRCm39) |
K383M |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
| Other mutations in Socs4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01942:Socs4
|
APN |
14 |
47,528,107 (GRCm39) |
nonsense |
probably null |
|
|
IGL02039:Socs4
|
APN |
14 |
47,527,650 (GRCm39) |
missense |
probably benign |
|
|
IGL02117:Socs4
|
APN |
14 |
47,528,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Socs4
|
UTSW |
14 |
47,527,325 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0703:Socs4
|
UTSW |
14 |
47,527,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Socs4
|
UTSW |
14 |
47,528,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0842:Socs4
|
UTSW |
14 |
47,527,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1133:Socs4
|
UTSW |
14 |
47,527,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1280:Socs4
|
UTSW |
14 |
47,528,370 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1619:Socs4
|
UTSW |
14 |
47,527,740 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1632:Socs4
|
UTSW |
14 |
47,527,034 (GRCm39) |
start gained |
probably benign |
|
|
R5058:Socs4
|
UTSW |
14 |
47,527,589 (GRCm39) |
nonsense |
probably null |
|
|
R6008:Socs4
|
UTSW |
14 |
47,527,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6648:Socs4
|
UTSW |
14 |
47,527,633 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6925:Socs4
|
UTSW |
14 |
47,527,195 (GRCm39) |
nonsense |
probably null |
|
|
R7408:Socs4
|
UTSW |
14 |
47,527,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9162:Socs4
|
UTSW |
14 |
47,528,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9234:Socs4
|
UTSW |
14 |
47,527,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9428:Socs4
|
UTSW |
14 |
47,528,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation