Incidental Mutation 'R4509:Socs1'
ID |
331140 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
041758-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4509 (G1)
|
Quality Score |
182 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
10601672-10603400 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 10602218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 173
(R173Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038099]
[ENSMUST00000051297]
[ENSMUST00000229866]
|
AlphaFold |
O35716 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038099
AA Change: R173Q
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000038121 Gene: ENSMUSG00000038037 AA Change: R173Q
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 benign
Transcript: ENSMUST00000229866
AA Change: R173Q
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
Meta Mutation Damage Score |
0.0909 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (48/49) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,857,581 (GRCm39) |
L657P |
probably damaging |
Het |
Adam4 |
A |
T |
12: 81,468,521 (GRCm39) |
C33* |
probably null |
Het |
Adam6b |
T |
C |
12: 113,453,972 (GRCm39) |
V263A |
probably benign |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,718,339 (GRCm39) |
F2011L |
probably benign |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,818,928 (GRCm39) |
Y1209C |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,571,844 (GRCm39) |
T484M |
probably benign |
Het |
Ccdc178 |
T |
C |
18: 22,200,449 (GRCm39) |
N452D |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
T |
C |
3: 104,940,063 (GRCm39) |
N2S |
probably damaging |
Het |
Gm15032 |
A |
T |
X: 141,405,622 (GRCm39) |
|
noncoding transcript |
Het |
Gzmg |
G |
A |
14: 56,394,210 (GRCm39) |
P228L |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,364,964 (GRCm39) |
D221V |
probably damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,715,883 (GRCm39) |
R2022C |
probably damaging |
Het |
Mipep |
T |
C |
14: 61,064,770 (GRCm39) |
Y375H |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
Perm1 |
T |
C |
4: 156,302,043 (GRCm39) |
S196P |
probably benign |
Het |
Pik3c2g |
A |
T |
6: 139,665,732 (GRCm39) |
T18S |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,565,569 (GRCm39) |
|
probably benign |
Het |
Psd4 |
T |
C |
2: 24,286,347 (GRCm39) |
S316P |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,501,823 (GRCm39) |
V45A |
possibly damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,807,668 (GRCm39) |
M242V |
probably damaging |
Het |
Repin1 |
T |
C |
6: 48,573,460 (GRCm39) |
C130R |
possibly damaging |
Het |
Rrp1 |
G |
T |
10: 78,248,656 (GRCm39) |
T44K |
possibly damaging |
Het |
Slc44a5 |
A |
G |
3: 153,939,710 (GRCm39) |
Y88C |
probably damaging |
Het |
Speer3 |
T |
G |
5: 13,846,368 (GRCm39) |
N229K |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,204,086 (GRCm39) |
I226F |
probably damaging |
Het |
Tdp1 |
G |
A |
12: 99,921,324 (GRCm39) |
|
probably benign |
Het |
Tnfrsf21 |
G |
A |
17: 43,396,279 (GRCm39) |
S521N |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Ubqln3 |
G |
A |
7: 103,790,651 (GRCm39) |
L480F |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,789,172 (GRCm39) |
P3817L |
probably damaging |
Het |
Xpr1 |
A |
G |
1: 155,165,907 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,520,411 (GRCm39) |
E511G |
probably benign |
Het |
Zfp560 |
C |
T |
9: 20,260,019 (GRCm39) |
C281Y |
probably damaging |
Het |
|
Other mutations in Socs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03002:Socs1
|
APN |
16 |
10,602,404 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGAGGTCTCCAGCCAGAAG -3'
(R):5'- AACGGAACTGCTTCTTCGCG -3'
Sequencing Primer
(F):5'- CCAGAAGTGGGAGGCATCTC -3'
(R):5'- GCTCAGCGTGAAGATGGC -3'
|
Posted On |
2015-07-21 |