Incidental Mutation 'IGL03325:Sh2d3c'
| ID |
416628 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh2d3c
|
| Ensembl Gene |
ENSMUSG00000059013 |
| Gene Name |
SH2 domain containing 3C |
| Synonyms |
Cas/HEF1-associated signal transducer, Nsp3, Shep1, Chat, SH2-containing Eph receptor-binding protein 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32611072-32645008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32615270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 120
(A120V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074248]
[ENSMUST00000113242]
|
| AlphaFold |
Q9QZS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074248
AA Change: A120V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: A120V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
207 |
N/A |
INTRINSIC |
|
SH2
|
213 |
301 |
7.8e-21 |
SMART |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
487 |
N/A |
INTRINSIC |
|
RasGEF
|
576 |
849 |
8.18e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113242
|
| SMART Domains |
Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
SH2
|
61 |
149 |
7.8e-21 |
SMART |
|
low complexity region
|
181 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
RasGEF
|
424 |
697 |
8.18e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124133
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,844,422 (GRCm39) |
R870C |
possibly damaging |
Het |
| Abcf2 |
A |
T |
5: 24,779,210 (GRCm39) |
L113I |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,861,240 (GRCm39) |
R106Q |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,036,324 (GRCm39) |
V1645A |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,481,277 (GRCm39) |
|
probably benign |
Het |
| Ceacam1 |
G |
A |
7: 25,175,912 (GRCm39) |
A94V |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,168 (GRCm39) |
T2515I |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,983 (GRCm39) |
Y93C |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,548 (GRCm39) |
D573G |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,645,229 (GRCm39) |
M105T |
probably benign |
Het |
| Gramd1c |
A |
T |
16: 43,825,868 (GRCm39) |
Y303N |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,404,085 (GRCm39) |
|
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,883 (GRCm39) |
Y139* |
probably null |
Het |
| Itih2 |
T |
C |
2: 10,111,546 (GRCm39) |
D464G |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,673,902 (GRCm39) |
Y555H |
probably benign |
Het |
| Krtap19-3 |
A |
T |
16: 88,674,609 (GRCm39) |
*88R |
probably null |
Het |
| Mrps11 |
T |
C |
7: 78,440,453 (GRCm39) |
F114S |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,875 (GRCm39) |
V86E |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,569,158 (GRCm39) |
T555A |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,309,474 (GRCm39) |
K304N |
probably benign |
Het |
| Pprc1 |
C |
T |
19: 46,049,948 (GRCm39) |
T10I |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,417 (GRCm39) |
V409A |
possibly damaging |
Het |
| Sema3d |
T |
A |
5: 12,513,189 (GRCm39) |
L53Q |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,628 (GRCm39) |
Y696H |
probably damaging |
Het |
| Smn1 |
A |
G |
13: 100,264,365 (GRCm39) |
Y32C |
probably damaging |
Het |
| Sun2 |
C |
T |
15: 79,622,849 (GRCm39) |
R110Q |
probably benign |
Het |
| Tcp11l2 |
T |
G |
10: 84,440,764 (GRCm39) |
D323E |
possibly damaging |
Het |
| Tex55 |
A |
T |
16: 38,648,355 (GRCm39) |
S251R |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,667,451 (GRCm39) |
S296R |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,135,869 (GRCm39) |
S2435T |
probably damaging |
Het |
| Vmn2r114 |
C |
A |
17: 23,510,652 (GRCm39) |
K609N |
probably damaging |
Het |
|
| Other mutations in Sh2d3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Sh2d3c
|
APN |
2 |
32,615,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02326:Sh2d3c
|
APN |
2 |
32,639,163 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0008:Sh2d3c
|
UTSW |
2 |
32,643,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Sh2d3c
|
UTSW |
2 |
32,643,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0619:Sh2d3c
|
UTSW |
2 |
32,643,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1138:Sh2d3c
|
UTSW |
2 |
32,639,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1984:Sh2d3c
|
UTSW |
2 |
32,639,256 (GRCm39) |
nonsense |
probably null |
|
|
R3808:Sh2d3c
|
UTSW |
2 |
32,636,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4399:Sh2d3c
|
UTSW |
2 |
32,636,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4556:Sh2d3c
|
UTSW |
2 |
32,643,021 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4840:Sh2d3c
|
UTSW |
2 |
32,611,172 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R5027:Sh2d3c
|
UTSW |
2 |
32,634,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5367:Sh2d3c
|
UTSW |
2 |
32,635,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Sh2d3c
|
UTSW |
2 |
32,644,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Sh2d3c
|
UTSW |
2 |
32,642,665 (GRCm39) |
nonsense |
probably null |
|
|
R7029:Sh2d3c
|
UTSW |
2 |
32,644,581 (GRCm39) |
makesense |
probably null |
|
|
R7047:Sh2d3c
|
UTSW |
2 |
32,611,172 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R7636:Sh2d3c
|
UTSW |
2 |
32,615,023 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7893:Sh2d3c
|
UTSW |
2 |
32,639,388 (GRCm39) |
nonsense |
probably null |
|
|
R8072:Sh2d3c
|
UTSW |
2 |
32,643,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Sh2d3c
|
UTSW |
2 |
32,615,276 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8447:Sh2d3c
|
UTSW |
2 |
32,642,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Sh2d3c
|
UTSW |
2 |
32,635,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Sh2d3c
|
UTSW |
2 |
32,634,778 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9475:Sh2d3c
|
UTSW |
2 |
32,643,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Sh2d3c
|
UTSW |
2 |
32,635,889 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation