Incidental Mutation 'IGL03330:Socs7'
| ID |
416830 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Socs7
|
| Ensembl Gene |
ENSMUSG00000038485 |
| Gene Name |
suppressor of cytokine signaling 7 |
| Synonyms |
Nap4, 2310063P06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97253261-97289368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97269378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 399
(Y399H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045540]
|
| AlphaFold |
Q8VHQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045540
AA Change: Y399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040896
Gene: ENSMUSG00000038485
AA Change: Y399H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
SH2
|
396 |
482 |
1.89e-19 |
SMART |
|
SOCS
|
507 |
550 |
3.07e-19 |
SMART |
|
SOCS_box
|
513 |
549 |
7.37e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149212
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display partial penetrance of hydroencephaly, premature death, intracranial hemorrhage, abnormally large islets of Langerhans and fully penetrant disorganization of the subcommissural organ and reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,050,254 (GRCm39) |
I837V |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,041,330 (GRCm39) |
V138A |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,069,772 (GRCm39) |
C535Y |
probably damaging |
Het |
| Bcor |
G |
A |
X: 11,925,110 (GRCm39) |
T162I |
possibly damaging |
Het |
| Catsperd |
C |
A |
17: 56,939,316 (GRCm39) |
N48K |
possibly damaging |
Het |
| Ccr2 |
T |
C |
9: 123,905,996 (GRCm39) |
I92T |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,020,599 (GRCm39) |
I197M |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,774 (GRCm39) |
T86S |
possibly damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,560 (GRCm39) |
D270E |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,540,804 (GRCm39) |
|
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,827,371 (GRCm39) |
V94A |
possibly damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,474,307 (GRCm39) |
M448V |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,192,351 (GRCm39) |
L14P |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,798,407 (GRCm39) |
R191G |
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,254,929 (GRCm39) |
T151A |
possibly damaging |
Het |
| Lars1 |
T |
A |
18: 42,353,009 (GRCm39) |
M803L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,998 (GRCm39) |
T224A |
probably benign |
Het |
| Noxa1 |
T |
A |
2: 24,980,526 (GRCm39) |
D161V |
possibly damaging |
Het |
| Or2w3b |
A |
C |
11: 58,623,745 (GRCm39) |
L82R |
probably damaging |
Het |
| Or4l1 |
C |
T |
14: 50,166,678 (GRCm39) |
G108R |
probably damaging |
Het |
| Or8g52 |
C |
T |
9: 39,630,784 (GRCm39) |
T87I |
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,713,412 (GRCm39) |
N603K |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Sgcb |
T |
A |
5: 73,797,212 (GRCm39) |
S183C |
probably damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,837,679 (GRCm39) |
I239F |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,804 (GRCm39) |
D20G |
probably benign |
Het |
| Tmem184b |
A |
T |
15: 79,254,179 (GRCm39) |
|
probably null |
Het |
| Tpo |
A |
G |
12: 30,153,500 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,207,139 (GRCm39) |
Y167* |
probably null |
Het |
|
| Other mutations in Socs7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Dunn
|
UTSW |
11 |
97,263,950 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2136:Socs7
|
UTSW |
11 |
97,263,933 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2145:Socs7
|
UTSW |
11 |
97,263,950 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4841:Socs7
|
UTSW |
11 |
97,267,829 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4842:Socs7
|
UTSW |
11 |
97,267,829 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5049:Socs7
|
UTSW |
11 |
97,269,469 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5302:Socs7
|
UTSW |
11 |
97,280,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Socs7
|
UTSW |
11 |
97,268,852 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5331:Socs7
|
UTSW |
11 |
97,268,852 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6956:Socs7
|
UTSW |
11 |
97,267,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7448:Socs7
|
UTSW |
11 |
97,267,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7677:Socs7
|
UTSW |
11 |
97,280,468 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8419:Socs7
|
UTSW |
11 |
97,254,165 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9422:Socs7
|
UTSW |
11 |
97,253,973 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9602:Socs7
|
UTSW |
11 |
97,267,837 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2016-08-02 |
Incidental Mutation