Incidental Mutation 'R0670:Socs1'
| ID |
61406 |
| 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 |
038855-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0670 (G1)
|
| Quality Score |
131 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
10601672-10603400 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10602126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 204
(Y204H)
|
| 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: Y204H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038121
Gene: ENSMUSG00000038037
AA Change: Y204H
| 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: Y204H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
| Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
| Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
| Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
| Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
| H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
| Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
| Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
| Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCTGGAAGTTTGGTCCCCATC -3'
(R):5'- TTTCGAGCTGCTGGAGCACTAC -3'
Sequencing Primer
(F):5'- GCATACGCTCTAGGAATCTTTG -3'
(R):5'- CTGCAGGAGCTGTGTCG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation