Incidental Mutation 'R4399:Sh2d3c'
| ID |
325617 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
041686-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4399 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32611072-32645008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32636172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 332
(G332D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074248]
[ENSMUST00000113242]
|
| AlphaFold |
Q9QZS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074248
AA Change: G332D
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: G332D
| 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 damaging
Transcript: ENSMUST00000113242
AA Change: G180D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: G180D
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131101
|
| SMART Domains |
Protein: ENSMUSP00000122613
Gene: ENSMUSG00000059013
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
54 |
N/A |
INTRINSIC |
|
SH2
|
60 |
148 |
7.8e-21 |
SMART |
|
low complexity region
|
180 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141670
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,827,211 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,652,031 (GRCm39) |
N612S |
probably benign |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,429,900 (GRCm39) |
A674V |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,238 (GRCm39) |
H1992R |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,724 (GRCm39) |
K597E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,164 (GRCm39) |
M1919L |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,198,559 (GRCm39) |
V788I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Foxred2 |
A |
C |
15: 77,837,558 (GRCm39) |
V226G |
possibly damaging |
Het |
| Foxred2 |
T |
C |
15: 77,839,880 (GRCm39) |
I137V |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,516 (GRCm39) |
N430K |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,740,126 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
T |
A |
5: 104,457,148 (GRCm39) |
S86T |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,694 (GRCm39) |
S34T |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,484 (GRCm39) |
Y572* |
probably null |
Het |
| Mup18 |
C |
T |
4: 61,590,866 (GRCm39) |
G97D |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,242 (GRCm39) |
N303I |
probably benign |
Het |
| Or1p1 |
A |
G |
11: 74,179,682 (GRCm39) |
D70G |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4k40 |
T |
G |
2: 111,251,144 (GRCm39) |
I51L |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,353,534 (GRCm39) |
I454N |
possibly damaging |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,842,563 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,777,189 (GRCm39) |
S323T |
probably benign |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Setd1b |
C |
T |
5: 123,299,861 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
A |
G |
4: 150,243,007 (GRCm39) |
E276G |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,121,791 (GRCm39) |
F73L |
possibly damaging |
Het |
| Sstr3 |
T |
G |
15: 78,424,324 (GRCm39) |
D141A |
probably damaging |
Het |
| St8sia5 |
T |
C |
18: 77,340,714 (GRCm39) |
C191R |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,538 (GRCm39) |
N230S |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,060,872 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
A |
G |
19: 5,133,099 (GRCm39) |
S36P |
probably damaging |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,476 (GRCm39) |
T247A |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,834 (GRCm39) |
S304P |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
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 |
|
|
IGL03325:Sh2d3c
|
APN |
2 |
32,615,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTTCAAGATCAACAAGGTG -3'
(R):5'- ACCAGCATTTTCATTAACAAGCCAG -3'
Sequencing Primer
(F):5'- CTTCAAGATCAACAAGGTGGTGGTG -3'
(R):5'- TTTTCATTAACAAGCCAGAGGGAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation