Incidental Mutation 'IGL00591:Sh2d4b'
| ID |
332736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh2d4b
|
| Ensembl Gene |
ENSMUSG00000037833 |
| Gene Name |
SH2 domain containing 4B |
| Synonyms |
A430109M18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL00591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
40535746-40615223 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 40594490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 163
(F163L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096000]
|
| AlphaFold |
A6X942 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096000
AA Change: F163L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: F163L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
coiled coil region
|
149 |
234 |
N/A |
INTRINSIC |
|
SH2
|
323 |
406 |
4.87e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225854
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csmd3 |
C |
T |
15: 47,868,279 (GRCm39) |
C747Y |
probably damaging |
Het |
| Elk3 |
T |
C |
10: 93,120,689 (GRCm39) |
N50S |
probably damaging |
Het |
| Esyt2 |
T |
A |
12: 116,327,064 (GRCm39) |
L544H |
probably damaging |
Het |
| Faap20 |
A |
G |
4: 155,335,067 (GRCm39) |
N56S |
probably benign |
Het |
| Fnd3c2 |
T |
A |
X: 105,279,597 (GRCm39) |
Y845F |
probably damaging |
Het |
| Gm1110 |
C |
A |
9: 26,792,170 (GRCm39) |
E617* |
probably null |
Het |
| Gpbp1 |
T |
C |
13: 111,577,284 (GRCm39) |
D202G |
probably damaging |
Het |
| Hecw1 |
C |
T |
13: 14,440,565 (GRCm39) |
G1242R |
possibly damaging |
Het |
| Iqce |
A |
T |
5: 140,663,883 (GRCm39) |
L132* |
probably null |
Het |
| Mthfd1 |
C |
A |
12: 76,347,213 (GRCm39) |
P550Q |
possibly damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,917,129 (GRCm39) |
T12A |
possibly damaging |
Het |
| Xkr8 |
A |
T |
4: 132,455,357 (GRCm39) |
Y339N |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,960,911 (GRCm39) |
K501E |
possibly damaging |
Het |
|
| Other mutations in Sh2d4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01552:Sh2d4b
|
APN |
14 |
40,582,605 (GRCm39) |
missense |
probably benign |
|
|
IGL02556:Sh2d4b
|
APN |
14 |
40,542,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0961:Sh2d4b
|
UTSW |
14 |
40,596,139 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1573:Sh2d4b
|
UTSW |
14 |
40,564,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1672:Sh2d4b
|
UTSW |
14 |
40,614,921 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R2360:Sh2d4b
|
UTSW |
14 |
40,582,548 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3951:Sh2d4b
|
UTSW |
14 |
40,594,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4728:Sh2d4b
|
UTSW |
14 |
40,564,389 (GRCm39) |
nonsense |
probably null |
|
|
R4824:Sh2d4b
|
UTSW |
14 |
40,562,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6222:Sh2d4b
|
UTSW |
14 |
40,542,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6497:Sh2d4b
|
UTSW |
14 |
40,596,139 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6541:Sh2d4b
|
UTSW |
14 |
40,542,748 (GRCm39) |
missense |
probably benign |
|
|
R7136:Sh2d4b
|
UTSW |
14 |
40,562,209 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7864:Sh2d4b
|
UTSW |
14 |
40,562,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7947:Sh2d4b
|
UTSW |
14 |
40,542,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:Sh2d4b
|
UTSW |
14 |
40,614,832 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8886:Sh2d4b
|
UTSW |
14 |
40,595,946 (GRCm39) |
intron |
probably benign |
|
|
R9292:Sh2d4b
|
UTSW |
14 |
40,537,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-08-05 |
Incidental Mutation