Incidental Mutation 'R0909:Socs5'
| ID |
83447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Socs5
|
| Ensembl Gene |
ENSMUSG00000037104 |
| Gene Name |
suppressor of cytokine signaling 5 |
| Synonyms |
SOCS-5, Cish5, 1810018L08Rik |
| MMRRC Submission |
039067-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
87415107-87445267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87441201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 47
(L47Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041369]
|
| AlphaFold |
O54928 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041369
AA Change: L47Q
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038591
Gene: ENSMUSG00000037104
AA Change: L47Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SOCS
|
145 |
197 |
8.4e-20 |
PFAM |
|
low complexity region
|
258 |
270 |
N/A |
INTRINSIC |
|
SH2
|
379 |
465 |
4.59e-18 |
SMART |
|
SOCS
|
475 |
518 |
1.65e-19 |
SMART |
|
SOCS_box
|
481 |
517 |
3.74e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
| 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) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are viable and fertile with normal immune system morphology and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
| Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
| Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
| Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
| Exosc9 |
A |
T |
3: 36,608,853 (GRCm39) |
I151F |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
| Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
| H2-DMb2 |
C |
A |
17: 34,367,783 (GRCm39) |
T68N |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
| Mrpl44 |
G |
A |
1: 79,757,370 (GRCm39) |
V272I |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,388,384 (GRCm39) |
D329V |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
| Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
| Or52p2 |
A |
T |
7: 102,237,654 (GRCm39) |
C99S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
| Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
| Rccd1 |
A |
C |
7: 79,968,799 (GRCm39) |
|
probably null |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
| Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,198,275 (GRCm39) |
A271T |
probably benign |
Het |
|
| Other mutations in Socs5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02426:Socs5
|
APN |
17 |
87,442,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02553:Socs5
|
APN |
17 |
87,442,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Socs5
|
UTSW |
17 |
87,441,044 (GRCm39) |
splice site |
probably benign |
|
|
R1595:Socs5
|
UTSW |
17 |
87,441,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Socs5
|
UTSW |
17 |
87,442,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Socs5
|
UTSW |
17 |
87,442,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Socs5
|
UTSW |
17 |
87,442,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Socs5
|
UTSW |
17 |
87,441,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Socs5
|
UTSW |
17 |
87,442,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6604:Socs5
|
UTSW |
17 |
87,442,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Socs5
|
UTSW |
17 |
87,441,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8205:Socs5
|
UTSW |
17 |
87,441,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9411:Socs5
|
UTSW |
17 |
87,442,521 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9428:Socs5
|
UTSW |
17 |
87,441,067 (GRCm39) |
missense |
probably benign |
|
|
R9456:Socs5
|
UTSW |
17 |
87,442,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Socs5
|
UTSW |
17 |
87,442,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTGGAAGTATGTGGGTAAGCC -3'
(R):5'- CGAGTCACTGTCTTTCTCGATGCTG -3'
Sequencing Primer
(F):5'- GCTCACAGCAAAGTTAGTGTC -3'
(R):5'- CTGATTTCAACCACTTGAGGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation