Incidental Mutation 'IGL00807:Sh2d4a'
| ID |
14006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh2d4a
|
| Ensembl Gene |
ENSMUSG00000053886 |
| Gene Name |
SH2 domain containing 4A |
| Synonyms |
SH2A, 2210402M20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
68729219-68800351 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 68782018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066594]
|
| AlphaFold |
Q9D7V1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066594
|
| SMART Domains |
Protein: ENSMUSP00000070825
Gene: ENSMUSG00000053886
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
SH2
|
313 |
396 |
2.5e-22 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212166
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display normal T cell development, homeostasis, proliferation, and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,328,285 (GRCm39) |
T3453S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,886 (GRCm39) |
V2390E |
possibly damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,725,628 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
A |
T |
9: 123,777,506 (GRCm39) |
W314R |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,969,018 (GRCm39) |
I1218V |
possibly damaging |
Het |
| Dlc1 |
G |
A |
8: 37,040,002 (GRCm39) |
T1386I |
probably benign |
Het |
| Frs2 |
A |
C |
10: 116,910,791 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
C |
11: 56,902,866 (GRCm39) |
Y3H |
probably benign |
Het |
| Iigp1c |
C |
T |
18: 60,378,483 (GRCm39) |
S6F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,123,961 (GRCm39) |
N609S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,825,008 (GRCm39) |
M1541K |
possibly damaging |
Het |
| Mmachc |
A |
T |
4: 116,563,118 (GRCm39) |
V79E |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,153,619 (GRCm39) |
V436M |
probably damaging |
Het |
| Polr1has |
G |
T |
17: 37,275,813 (GRCm39) |
A132S |
probably damaging |
Het |
| Rhot1 |
C |
T |
11: 80,116,928 (GRCm39) |
H101Y |
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,573 (GRCm39) |
M38V |
probably benign |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Sh2d4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0078:Sh2d4a
|
UTSW |
8 |
68,734,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0608:Sh2d4a
|
UTSW |
8 |
68,799,346 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0701:Sh2d4a
|
UTSW |
8 |
68,783,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Sh2d4a
|
UTSW |
8 |
68,787,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Sh2d4a
|
UTSW |
8 |
68,787,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1690:Sh2d4a
|
UTSW |
8 |
68,747,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1744:Sh2d4a
|
UTSW |
8 |
68,783,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1864:Sh2d4a
|
UTSW |
8 |
68,781,967 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2011:Sh2d4a
|
UTSW |
8 |
68,799,394 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2014:Sh2d4a
|
UTSW |
8 |
68,783,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Sh2d4a
|
UTSW |
8 |
68,749,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4010:Sh2d4a
|
UTSW |
8 |
68,787,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Sh2d4a
|
UTSW |
8 |
68,799,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5522:Sh2d4a
|
UTSW |
8 |
68,749,349 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6627:Sh2d4a
|
UTSW |
8 |
68,746,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7482:Sh2d4a
|
UTSW |
8 |
68,749,328 (GRCm39) |
missense |
probably benign |
|
|
R7807:Sh2d4a
|
UTSW |
8 |
68,735,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7955:Sh2d4a
|
UTSW |
8 |
68,781,907 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8725:Sh2d4a
|
UTSW |
8 |
68,798,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Sh2d4a
|
UTSW |
8 |
68,798,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Sh2d4a
|
UTSW |
8 |
68,747,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation