Incidental Mutation 'IGL03002:Socs1'
ID |
407401 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Socs1
|
Ensembl Gene |
ENSMUSG00000038037 |
Gene Name |
suppressor of cytokine signaling 1 |
Synonyms |
Cish7, Cish1, JAB, SOCS-1, JAK-binding protein, STAT-induced STAT inhibitor 1, JAK2-binding protein, SSI-1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
10601672-10603400 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10602404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 111
(N111S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038099]
[ENSMUST00000051297]
[ENSMUST00000229866]
|
AlphaFold |
O35716 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038099
AA Change: N111S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038121 Gene: ENSMUSG00000038037 AA Change: N111S
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
51 |
N/A |
INTRINSIC |
SH2
|
78 |
161 |
1.29e-21 |
SMART |
SOCS
|
166 |
209 |
2.48e-14 |
SMART |
SOCS_box
|
172 |
208 |
9.01e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051297
|
SMART Domains |
Protein: ENSMUSP00000053078 Gene: ENSMUSG00000043050
Domain | Start | End | E-Value | Type |
Pfam:TP2
|
1 |
117 |
4.1e-40 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229866
AA Change: N111S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
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 STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded growth, hyperresponsiveness to endogenous interferon gamma, hepatitis with fatty degeneration, lymphopenia due to excess apoptosis, monocytic organ infiltration, and lethality by 3 weeks of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
probably damaging |
Het |
|
Other mutations in Socs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
minipad
|
UTSW |
16 |
10,602,394 (GRCm39) |
missense |
probably damaging |
1.00 |
Yogi
|
UTSW |
16 |
10,602,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0670:Socs1
|
UTSW |
16 |
10,602,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R3027:Socs1
|
UTSW |
16 |
10,602,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4509:Socs1
|
UTSW |
16 |
10,602,218 (GRCm39) |
missense |
probably benign |
0.10 |
R4993:Socs1
|
UTSW |
16 |
10,602,549 (GRCm39) |
missense |
probably benign |
0.17 |
R6014:Socs1
|
UTSW |
16 |
10,602,357 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6059:Socs1
|
UTSW |
16 |
10,602,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R6802:Socs1
|
UTSW |
16 |
10,602,222 (GRCm39) |
missense |
probably benign |
0.06 |
R6897:Socs1
|
UTSW |
16 |
10,602,266 (GRCm39) |
missense |
probably benign |
0.05 |
R8962:Socs1
|
UTSW |
16 |
10,602,642 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9058:Socs1
|
UTSW |
16 |
10,602,692 (GRCm39) |
missense |
probably benign |
|
R9299:Socs1
|
UTSW |
16 |
10,602,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9337:Socs1
|
UTSW |
16 |
10,602,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2016-08-02 |