Incidental Mutation 'R4556:Sh2d3c'
| ID |
341856 |
| 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 |
041597-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32611072-32645008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32643021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 583
(T583A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000074248]
[ENSMUST00000091059]
[ENSMUST00000113242]
[ENSMUST00000177382]
[ENSMUST00000156617]
[ENSMUST00000175763]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000074248
AA Change: T735A
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: T735A
| 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 |
possibly damaging
Transcript: ENSMUST00000113242
AA Change: T583A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: T583A
| 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: ENSMUST00000123624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149720
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,157,549 (GRCm39) |
S1601P |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,024,861 (GRCm39) |
D580A |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Fbxo42 |
T |
A |
4: 140,926,321 (GRCm39) |
H334Q |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,782 (GRCm39) |
R24G |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,612,816 (GRCm39) |
R1200L |
possibly damaging |
Het |
| Lxn |
T |
A |
3: 67,365,953 (GRCm39) |
I182F |
possibly damaging |
Het |
| Mbd5 |
G |
A |
2: 49,169,406 (GRCm39) |
G1526R |
probably damaging |
Het |
| Mcub |
G |
A |
3: 129,709,384 (GRCm39) |
Q310* |
probably null |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Nktr |
A |
G |
9: 121,570,189 (GRCm39) |
T90A |
probably damaging |
Het |
| Nr1h5 |
G |
A |
3: 102,853,457 (GRCm39) |
A350V |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,619 (GRCm39) |
L188P |
possibly damaging |
Het |
| Pros1 |
A |
G |
16: 62,721,036 (GRCm39) |
K197R |
possibly damaging |
Het |
| Rmnd5b |
G |
T |
11: 51,517,732 (GRCm39) |
|
probably null |
Het |
| Rnf25 |
A |
T |
1: 74,638,264 (GRCm39) |
I26N |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,272 (GRCm39) |
I1582V |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,426 (GRCm39) |
Y587C |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,221,773 (GRCm39) |
S488G |
probably benign |
Het |
| Smim22 |
T |
A |
16: 4,825,730 (GRCm39) |
F38L |
possibly damaging |
Het |
| Stab2 |
T |
G |
10: 86,803,543 (GRCm39) |
E335D |
possibly damaging |
Het |
| Tas2r102 |
T |
C |
6: 132,739,878 (GRCm39) |
F262S |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,060,762 (GRCm39) |
F107S |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,034,953 (GRCm39) |
V66E |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,804 (GRCm39) |
S67P |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,140,623 (GRCm39) |
H195Q |
probably benign |
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 |
|
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'- ATAGCGTGACTGTCCCATGG -3'
(R):5'- GACAGCTACTCACCTTGCAG -3'
Sequencing Primer
(F):5'- CATGGGGTAGCCAGGTATGCTC -3'
(R):5'- AGCTTGACCTCAGCGTTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation