Incidental Mutation 'R2304:Sh2d6'
ID |
244524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh2d6
|
Ensembl Gene |
ENSMUSG00000052631 |
Gene Name |
SH2 domain containing 6 |
Synonyms |
4933424C13Rik |
MMRRC Submission |
040303-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R2304 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
72490624-72498690 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72497542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 20
(E20G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124673
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089687]
[ENSMUST00000159877]
[ENSMUST00000162561]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089687
|
SMART Domains |
Protein: ENSMUSP00000087117 Gene: ENSMUSG00000052631
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
SH2
|
184 |
276 |
3.15e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159877
|
SMART Domains |
Protein: ENSMUSP00000123776 Gene: ENSMUSG00000052631
Domain | Start | End | E-Value | Type |
low complexity region
|
117 |
130 |
N/A |
INTRINSIC |
SH2
|
138 |
230 |
3.15e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160761
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162561
AA Change: E20G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124673 Gene: ENSMUSG00000052631 AA Change: E20G
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
SH2
|
211 |
303 |
3.15e-16 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
Dcdc5 |
T |
A |
2: 106,166,488 (GRCm39) |
|
noncoding transcript |
Het |
Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
Prss53 |
T |
C |
7: 127,487,479 (GRCm39) |
N291D |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
Slc13a5 |
A |
G |
11: 72,149,865 (GRCm39) |
V172A |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Sp8 |
G |
T |
12: 118,812,304 (GRCm39) |
S53I |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,966,550 (GRCm39) |
S99P |
probably damaging |
Het |
Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
Zfp786 |
A |
G |
6: 47,797,633 (GRCm39) |
L435P |
probably damaging |
Het |
|
Other mutations in Sh2d6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01111:Sh2d6
|
APN |
6 |
72,496,812 (GRCm39) |
missense |
probably benign |
|
IGL01386:Sh2d6
|
APN |
6 |
72,495,945 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02058:Sh2d6
|
APN |
6 |
72,490,961 (GRCm39) |
nonsense |
probably null |
|
IGL02950:Sh2d6
|
APN |
6 |
72,492,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02963:Sh2d6
|
APN |
6 |
72,494,584 (GRCm39) |
missense |
probably benign |
0.01 |
R1981:Sh2d6
|
UTSW |
6 |
72,494,527 (GRCm39) |
splice site |
probably benign |
|
R4520:Sh2d6
|
UTSW |
6 |
72,495,936 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4793:Sh2d6
|
UTSW |
6 |
72,494,581 (GRCm39) |
missense |
probably benign |
|
R5079:Sh2d6
|
UTSW |
6 |
72,496,833 (GRCm39) |
missense |
probably benign |
0.02 |
R7424:Sh2d6
|
UTSW |
6 |
72,494,147 (GRCm39) |
missense |
probably benign |
0.05 |
R9045:Sh2d6
|
UTSW |
6 |
72,492,604 (GRCm39) |
missense |
probably benign |
0.22 |
R9246:Sh2d6
|
UTSW |
6 |
72,497,594 (GRCm39) |
nonsense |
probably null |
|
RF013:Sh2d6
|
UTSW |
6 |
72,493,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCTGCCCAGCTGAGAGG -3'
(R):5'- GAGCCAACCCATCTTTCCTG -3'
Sequencing Primer
(F):5'- AGCTGAGGCCCTTTTCTGC -3'
(R):5'- TTCCTGTCTGGCCCAGAGAC -3'
|
Posted On |
2014-10-30 |