Incidental Mutation 'R6604:Socs5'
| ID |
525569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Socs5
|
| Ensembl Gene |
ENSMUSG00000037104 |
| Gene Name |
suppressor of cytokine signaling 5 |
| Synonyms |
SOCS-5, Cish5, 1810018L08Rik |
| MMRRC Submission |
044727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6604 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
87415107-87445267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87442553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 498
(Y498H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041369]
|
| AlphaFold |
O54928 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041369
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038591
Gene: ENSMUSG00000037104
AA Change: Y498H
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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 |
|---|
| 4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
| Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
| Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
| Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
| Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
| Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
| Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
| Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
| Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
| Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
probably damaging |
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 |
|
|
R0909:Socs5
|
UTSW |
17 |
87,441,201 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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'- CCACAACTTCAGCTTCGATG -3'
(R):5'- GTGGGAAATCCTAGCAGCTG -3'
Sequencing Primer
(F):5'- AGCTTCGATGCCCATGAC -3'
(R):5'- AGCTGACTGCCTCCTATGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation