Mutagenetix > Incidental Mutation

Incidental Mutation 'R0864:Gapt'

82265

Institutional Source

Beutler Lab

Gene Symbol

Gapt

Ensembl Gene

ENSMUSG00000046006

Gene Name

Grb2-binding adaptor, transmembrane

Synonyms

9830130M13Rik

MMRRC Submission

039038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110489150-110493733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 110490273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 130 (T130R)

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: T130R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053775
Gene: ENSMUSG00000046006
AA Change: T130R

Domain	Start	End	E-Value	Type
Pfam:GAPT	1	155	2.5e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224534
AA Change: T130R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.1443

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 97.3%
20x: 93.8%

Validation Efficiency

93% (39/42)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,784,798 (GRCm39)		probably benign	Het
Alx4	A	G	2: 93,473,200 (GRCm39)	Y66C	probably damaging	Het
Apol7e	T	A	15: 77,601,993 (GRCm39)	V197E	probably damaging	Het
Chac1	C	A	2: 119,183,950 (GRCm39)	A184E	probably damaging	Het
Clmn	G	A	12: 104,756,274 (GRCm39)	T192I	possibly damaging	Het
Csmd1	T	A	8: 16,240,040 (GRCm39)	Y1124F	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
D430041D05Rik	G	A	2: 104,060,773 (GRCm39)	P1374S	possibly damaging	Het
Dyrk4	T	C	6: 126,854,296 (GRCm39)	E499G	possibly damaging	Het
Fat1	T	A	8: 45,471,074 (GRCm39)	I1603N	probably damaging	Het
Fbn1	A	T	2: 125,184,811 (GRCm39)	C1660*	probably null	Het
Hpn	T	C	7: 30,808,426 (GRCm39)	I41V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Map4	A	G	9: 109,808,037 (GRCm39)	Y34C	probably damaging	Het
Mapk8	C	T	14: 33,114,949 (GRCm39)	R189H	probably damaging	Het
Mprip	T	C	11: 59,649,587 (GRCm39)	V1097A	probably benign	Het
Msh2	A	G	17: 87,987,480 (GRCm39)	T207A	probably benign	Het
Muc4	A	G	16: 32,570,820 (GRCm39)	S627G	probably benign	Het
Nbeal2	G	A	9: 110,457,263 (GRCm39)	T2266I	probably damaging	Het
Pdcd6ip	A	T	9: 113,503,578 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,918,759 (GRCm39)	Y339H	probably damaging	Het
Piwil2	T	C	14: 70,632,823 (GRCm39)	D583G	probably benign	Het
Plin4	T	A	17: 56,410,966 (GRCm39)	M1022L	probably benign	Het
Pmpca	G	A	2: 26,283,221 (GRCm39)		probably null	Het
Rbbp4	G	T	4: 129,214,344 (GRCm39)		probably benign	Het
Rbbp8	G	A	18: 11,865,241 (GRCm39)		probably benign	Het
Rbms3	A	T	9: 117,458,860 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,266,049 (GRCm39)	S726T	possibly damaging	Het
Supt4a	T	A	11: 87,633,913 (GRCm39)	S88T	probably benign	Het
Tmem245	G	T	4: 56,890,837 (GRCm39)	H321Q	probably damaging	Het
Trim43c	A	T	9: 88,725,087 (GRCm39)	H202L	probably benign	Het
Trip12	A	G	1: 84,721,730 (GRCm39)	F1334S	probably damaging	Het
Vmn1r36	T	C	6: 66,693,840 (GRCm39)	T12A	probably null	Het
Ywhae	T	G	11: 75,650,256 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,154,104 (GRCm39)	S131T	probably damaging	Het
Zfp280b	C	T	10: 75,874,139 (GRCm39)	T6M	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ATGACGACATCAGTCCACTCGGAG -3'
(R):5'- TCGCAGGGAAAGCACACCGTTTAC -3'

Sequencing Primer
(F):5'- GGCCTGGTGATGGGTTTTC -3'
(R):5'- TGCCTACGTGATTAGCCCAAG -3'

Posted On

2013-11-08