Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Tagap'

317764

Institutional Source

Beutler Lab

Gene Symbol

Tagap

Ensembl Gene

ENSMUSG00000033450

Gene Name

T cell activation Rho GTPase activating protein

Synonyms

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7926000-7934897 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7929423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 152 (H152L)

Ref Sequence

ENSEMBL: ENSMUSP00000047431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036370]

AlphaFold

B2RWW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000036370
AA Change: H152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047431
Gene: ENSMUSG00000033450
AA Change: H152L

Domain	Start	End	E-Value	Type
RhoGAP	98	274	1.16e-35	SMART
low complexity region	350	361	N/A	INTRINSIC
low complexity region	459	478	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226153

Meta Mutation Damage Score

0.2954

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,043,996	M2173V	probably damaging	Het
Alas1	G	T	9: 106,241,801		probably null	Het
Angpt1	T	C	15: 42,523,545	T138A	probably damaging	Het
Atp2c2	G	A	8: 119,749,871		probably null	Het
C330027C09Rik	T	C	16: 49,000,976		probably benign	Het
Cadm2	A	G	16: 66,784,788	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,409,113	D671E	probably damaging	Het
Chd2	C	T	7: 73,501,016	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,191,007	Q29*	probably null	Het
Cym	A	G	3: 107,214,266	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,251,459		noncoding transcript	Het
Gsdma2	T	A	11: 98,650,851	S135T	probably benign	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hoxb3	C	A	11: 96,346,100	H335N	probably damaging	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,708,730	T90I	probably damaging	Het
Kansl3	C	A	1: 36,344,954	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,299,614	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,877,915	E12V	probably damaging	Het
Klk15	A	T	7: 43,938,780	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,387,716	M1K	probably null	Het
Lrig1	T	C	6: 94,613,578	D487G	probably benign	Het
Lrp8	T	A	4: 107,843,271	C135*	probably null	Het
Lrrc31	C	A	3: 30,695,522	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,325,216	V663A	possibly damaging	Het
Med27	G	A	2: 29,377,908		probably benign	Het
Mical1	T	C	10: 41,486,937		probably benign	Het
Myt1	A	T	2: 181,811,398	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,445,958	M477V	probably benign	Het
Npy4r	T	C	14: 34,147,141	I63M	probably benign	Het
Olfr224	A	T	11: 58,566,829	I172N	probably damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr672	C	T	7: 104,996,635	G90S	probably benign	Het
Olfr904	T	A	9: 38,464,083	L14Q	probably null	Het
Piezo1	A	C	8: 122,501,160		probably null	Het
Ppp1r12c	T	C	7: 4,483,367	E601G	probably damaging	Het
Proser1	T	C	3: 53,479,712		probably null	Het
Psme2	A	T	14: 55,588,277	N143K	probably benign	Het
Pygo2	C	A	3: 89,433,264	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,749,789	T77A	possibly damaging	Het
Recql5	A	G	11: 115,904,888	S190P	probably benign	Het
Serpina12	A	G	12: 104,037,924	F150L	probably damaging	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,612,394	T357M	probably damaging	Het
Spag6l	A	C	16: 16,829,024	N39K	probably benign	Het
Srl	A	G	16: 4,497,452	S109P	possibly damaging	Het
Tbx3	T	A	5: 119,680,748	S463T	probably benign	Het
Tcaf2	A	G	6: 42,642,838	L85P	probably damaging	Het
Tenm4	A	T	7: 96,895,772	S2332C	probably damaging	Het
Trim60	A	T	8: 65,001,378	M73K	probably benign	Het
Trpc1	T	C	9: 95,706,865	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,195,477	L601Q	probably benign	Het
Unc5d	T	C	8: 28,844,837	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,611,783	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,220,857	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,944	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,583,380	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,942,258	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,942,259	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,621,234	V536A	probably benign	Het
Vstm2a	A	G	11: 16,259,884	T37A	probably damaging	Het
Wfs1	T	C	5: 36,967,465	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,309,781	S2440P	possibly damaging	Het
Zfp61	A	G	7: 24,291,275		probably null	Het
Zfp64	T	C	2: 168,925,935	T586A	probably benign	Het
Zfp943	T	A	17: 21,992,982	C350S	probably damaging	Het

Other mutations in Tagap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Tagap	APN	17	7932948	missense	probably benign	0.01
IGL02589:Tagap	APN	17	7933672	missense	possibly damaging	0.87
BB003:Tagap	UTSW	17	7926938	critical splice donor site	probably null
BB013:Tagap	UTSW	17	7926938	critical splice donor site	probably null
R1750:Tagap	UTSW	17	7929910	missense	probably benign	0.06
R1791:Tagap	UTSW	17	7931467	missense	probably damaging	1.00
R1791:Tagap	UTSW	17	7933545	missense	probably benign	0.04
R2509:Tagap	UTSW	17	7928754	missense	probably benign	0.00
R4627:Tagap	UTSW	17	7926941	splice site	probably null
R4747:Tagap	UTSW	17	7932198	missense	probably benign
R5222:Tagap	UTSW	17	7933641	missense	possibly damaging	0.61
R5222:Tagap	UTSW	17	7933642	missense	possibly damaging	0.92
R5866:Tagap	UTSW	17	7933453	missense	probably damaging	0.98
R6392:Tagap	UTSW	17	7934061	missense	probably damaging	0.99
R6638:Tagap	UTSW	17	7927074	missense	possibly damaging	0.71
R6649:Tagap	UTSW	17	7933714	missense	probably benign	0.36
R6653:Tagap	UTSW	17	7933714	missense	probably benign	0.36
R7478:Tagap	UTSW	17	7933590	missense	possibly damaging	0.87
R7509:Tagap	UTSW	17	7928736	missense	probably damaging	0.99
R7926:Tagap	UTSW	17	7926938	critical splice donor site	probably null
R8549:Tagap	UTSW	17	7933965	missense	probably benign	0.36
R8747:Tagap	UTSW	17	7928770	missense	probably damaging	1.00
R9103:Tagap	UTSW	17	7933503	missense	probably benign	0.01
R9106:Tagap	UTSW	17	7931448	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTTCCGCGCTTTAACAG -3'
(R):5'- CATTGAAACAGAGGTGCTTGTATG -3'

Sequencing Primer
(F):5'- CGGGTGTCTCCAAGTGACTG -3'
(R):5'- ACAGAGGTGCTTGTATGAATAATTG -3'

Posted On

2015-05-15