Incidental Mutation 'R4248:Gapt'
| ID |
320505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapt
|
| Ensembl Gene |
ENSMUSG00000046006 |
| Gene Name |
Grb2-binding adaptor, transmembrane |
| Synonyms |
9830130M13Rik |
| MMRRC Submission |
041064-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
110489150-110493733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110490289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 125
(V125F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058806]
[ENSMUST00000224534]
|
| AlphaFold |
Q8CB93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058806
AA Change: V125F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053775
Gene: ENSMUSG00000046006
AA Change: V125F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GAPT
|
1 |
155 |
2.5e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224534
AA Change: V125F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Alox12b |
G |
A |
11: 69,054,431 (GRCm39) |
V250I |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,389,687 (GRCm39) |
F115L |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,850,474 (GRCm39) |
F536L |
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,989,617 (GRCm39) |
S355P |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gucd1 |
A |
T |
10: 75,345,662 (GRCm39) |
V131E |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,299 (GRCm39) |
E1299G |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,909 (GRCm39) |
D342G |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,273,489 (GRCm39) |
R2349H |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,220 (GRCm39) |
R2896Q |
possibly damaging |
Het |
| Moxd2 |
A |
C |
6: 40,855,933 (GRCm39) |
I552S |
probably damaging |
Het |
| Nkx1-2 |
TGGTGAGAGGGGGCCGCCTTGGCCCCG |
TG |
7: 132,201,209 (GRCm39) |
|
probably null |
Het |
| Onecut3 |
A |
G |
10: 80,349,963 (GRCm39) |
T486A |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
G |
7: 3,722,297 (GRCm39) |
F182S |
probably damaging |
Het |
| Rev1 |
C |
T |
1: 38,146,729 (GRCm39) |
R34H |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,100,351 (GRCm39) |
H389R |
possibly damaging |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,535 (GRCm39) |
A416V |
probably benign |
Het |
| Ust |
A |
T |
10: 8,393,982 (GRCm39) |
L61Q |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,376 (GRCm39) |
K168N |
probably damaging |
Het |
|
| Other mutations in Gapt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01889:Gapt
|
APN |
13 |
110,490,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACGACATCAGTCCACTCG -3'
(R):5'- CCCTACCGAAGTTTATGCAAAGG -3'
Sequencing Primer
(F):5'- ACATCAGTCCACTCGGAGGC -3'
(R):5'- AGTGCCTACGTGATTAGCCCAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation