Incidental Mutation 'R7029:Sh2d3c'
| ID |
546169 |
| 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 |
045130-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32611072-32645008 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 32644581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 703
(*703R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000074248]
[ENSMUST00000091059]
[ENSMUST00000113242]
[ENSMUST00000156617]
[ENSMUST00000175763]
[ENSMUST00000177382]
|
| AlphaFold |
Q9QZS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009707
|
| SMART Domains |
Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
35 |
160 |
1.2e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000074248
AA Change: *855R
|
| SMART Domains |
Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: *855R
| 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: ENSMUST00000091059
|
| SMART Domains |
Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
75 |
108 |
2.26e-3 |
SMART |
|
TPR
|
109 |
142 |
4.09e-1 |
SMART |
|
TPR
|
150 |
183 |
8.3e-2 |
SMART |
|
TPR
|
218 |
251 |
4.44e1 |
SMART |
|
TPR
|
265 |
298 |
3.69e1 |
SMART |
|
TPR
|
299 |
332 |
1.08e1 |
SMART |
|
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
|
TPR
|
379 |
412 |
1.02e-1 |
SMART |
|
TPR
|
420 |
453 |
7.27e0 |
SMART |
|
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113242
AA Change: *703R
|
| SMART Domains |
Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: *703R
| 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 |
probably benign
Transcript: ENSMUST00000140999
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156617
|
| SMART Domains |
Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175763
|
| SMART Domains |
Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177382
|
| SMART Domains |
Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
35 |
101 |
1.4e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,841 (GRCm39) |
Q271R |
probably benign |
Het |
| Abhd4 |
T |
A |
14: 54,500,164 (GRCm39) |
W63R |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,120,018 (GRCm39) |
M1176V |
probably null |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Brox |
G |
A |
1: 183,065,750 (GRCm39) |
P206L |
possibly damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,171 (GRCm39) |
D102G |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,444,943 (GRCm39) |
K447R |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,799,773 (GRCm39) |
S726P |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,031,879 (GRCm39) |
V15I |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,409,075 (GRCm39) |
T440S |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,593,698 (GRCm39) |
D130V |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,008 (GRCm39) |
T200A |
possibly damaging |
Het |
| Habp4 |
A |
T |
13: 64,309,939 (GRCm39) |
H47L |
probably benign |
Het |
| Iqcn |
G |
T |
8: 71,161,511 (GRCm39) |
V235L |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,563 (GRCm39) |
R26S |
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,755,632 (GRCm39) |
D41V |
probably benign |
Het |
| Lyn |
A |
G |
4: 3,782,996 (GRCm39) |
T410A |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,031 (GRCm39) |
T847A |
probably damaging |
Het |
| Mrgpra3 |
G |
T |
7: 47,239,290 (GRCm39) |
T212N |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,251 (GRCm39) |
F491L |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,801,562 (GRCm39) |
I1206N |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,621 (GRCm39) |
W618R |
possibly damaging |
Het |
| Pomc |
A |
G |
12: 4,010,146 (GRCm39) |
H129R |
probably damaging |
Het |
| Ppm1l |
C |
A |
3: 69,460,399 (GRCm39) |
H325Q |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,722,474 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,978,342 (GRCm39) |
I74V |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,745,225 (GRCm39) |
E850A |
probably damaging |
Het |
| Scrn2 |
T |
A |
11: 96,921,262 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,923,675 (GRCm39) |
R673K |
probably benign |
Het |
| Spp1 |
A |
G |
5: 104,587,167 (GRCm39) |
M85V |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,810 (GRCm39) |
E98G |
probably damaging |
Het |
| Srrm4 |
T |
A |
5: 116,582,851 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
A |
T |
17: 56,578,154 (GRCm39) |
S314T |
possibly damaging |
Het |
| Tie1 |
T |
C |
4: 118,341,823 (GRCm39) |
I209V |
possibly damaging |
Het |
| Vapa |
G |
A |
17: 65,889,586 (GRCm39) |
R194* |
probably null |
Het |
| Vcan |
C |
T |
13: 89,838,360 (GRCm39) |
D2395N |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,241,574 (GRCm39) |
H295R |
probably benign |
Het |
| Zdhhc14 |
A |
G |
17: 5,698,186 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,583 (GRCm39) |
F309Y |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,414,694 (GRCm39) |
C1187F |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,392 (GRCm39) |
Y302C |
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 |
|
|
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 |
|
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 |
|
|
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'- TTGTGAAGCCCTGATTACCTC -3'
(R):5'- TCCATTTGGAAGGGAGACTTGG -3'
Sequencing Primer
(F):5'- GTGAAGCCCTGATTACCTCTTTCC -3'
(R):5'- TGTGTGATGGAAGAATGGAGCTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation