Incidental Mutation 'IGL01889:Gapt'
| ID |
179203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gapt
|
| Ensembl Gene |
ENSMUSG00000046006 |
| Gene Name |
Grb2-binding adaptor, transmembrane |
| Synonyms |
9830130M13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
110489150-110493733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110490501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 54
(Q54L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058806]
[ENSMUST00000224534]
|
| AlphaFold |
Q8CB93 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058806
AA Change: Q54L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000053775
Gene: ENSMUSG00000046006
AA Change: Q54L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GAPT
|
1 |
155 |
2.5e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224534
AA Change: Q54L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit increased B cell proliferation, marginal zone B cell numbers and concentrations of IgM, IgG2b and IgG3. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,804,981 (GRCm39) |
|
probably benign |
Het |
| Brap |
G |
A |
5: 121,798,881 (GRCm39) |
V18I |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,048,857 (GRCm39) |
V2282M |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,967 (GRCm38) |
E2269G |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,169,123 (GRCm39) |
I557V |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,852 (GRCm39) |
I253N |
possibly damaging |
Het |
| Kcnj3 |
T |
A |
2: 55,327,216 (GRCm39) |
S2T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,538,444 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,225,427 (GRCm39) |
V1048A |
possibly damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,112,261 (GRCm39) |
V636D |
unknown |
Het |
| Nphs1 |
G |
T |
7: 30,159,936 (GRCm39) |
R82S |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,089 (GRCm39) |
F164L |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,309 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or6z3 |
G |
A |
7: 6,463,502 (GRCm39) |
|
probably benign |
Het |
| Papln |
T |
A |
12: 83,833,609 (GRCm39) |
L1175Q |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,530,031 (GRCm39) |
|
probably benign |
Het |
| Rel |
A |
G |
11: 23,707,035 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sdc4 |
A |
G |
2: 164,273,127 (GRCm39) |
L61P |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,264,089 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,189,783 (GRCm39) |
C3989* |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,659,077 (GRCm39) |
V278A |
possibly damaging |
Het |
|
| Other mutations in Gapt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0862:Gapt
|
UTSW |
13 |
110,490,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0864:Gapt
|
UTSW |
13 |
110,490,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0980:Gapt
|
UTSW |
13 |
110,490,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0981:Gapt
|
UTSW |
13 |
110,490,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1183:Gapt
|
UTSW |
13 |
110,490,372 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1953:Gapt
|
UTSW |
13 |
110,490,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4248:Gapt
|
UTSW |
13 |
110,490,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5225:Gapt
|
UTSW |
13 |
110,490,522 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5969:Gapt
|
UTSW |
13 |
110,490,480 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7494:Gapt
|
UTSW |
13 |
110,490,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation