Mutagenetix > Incidental Mutation

Incidental Mutation 'R5222:Tagap'

402391

Institutional Source

Beutler Lab

Gene Symbol

Tagap

Ensembl Gene

ENSMUSG00000033450

Gene Name

T cell activation Rho GTPase activating protein

Synonyms

Tcd1, TRD, tcs1, tcs-1, Tcd-1, Tcd1a

MMRRC Submission

042795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R5222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8144832-8153729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8152474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 553 (Q553L)

Ref Sequence

ENSEMBL: ENSMUSP00000047431 (fasta)

Gene Model

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

AlphaFold

B2RWW0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036370
AA Change: Q553L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047431
Gene: ENSMUSG00000033450
AA Change: Q553L

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

Meta Mutation Damage Score

0.1030

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (52/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	C	A	1: 159,872,178 (GRCm39)		noncoding transcript	Het
Acad11	G	A	9: 103,974,576 (GRCm39)	A515T	probably damaging	Het
Angpt1	T	C	15: 42,539,730 (GRCm39)	Y43C	probably damaging	Het
Arhgef33	A	G	17: 80,644,743 (GRCm39)	Y24C	probably damaging	Het
Cd40	G	C	2: 164,908,464 (GRCm39)	S180T	probably benign	Het
Cenpc1	A	T	5: 86,185,606 (GRCm39)	S302T	possibly damaging	Het
Cit	C	A	5: 116,090,602 (GRCm39)	T932K	probably benign	Het
Col19a1	A	C	1: 24,598,721 (GRCm39)		probably null	Het
Dapk3	A	G	10: 81,028,294 (GRCm39)	E288G	probably damaging	Het
Ddx60	T	C	8: 62,437,192 (GRCm39)	F1002S	probably damaging	Het
Dgke	G	T	11: 88,941,220 (GRCm39)	T321K	probably benign	Het
Ebf2	T	G	14: 67,551,043 (GRCm39)		probably benign	Het
Enpp7	A	G	11: 118,881,788 (GRCm39)	D311G	probably benign	Het
Epm2a	A	G	10: 11,324,493 (GRCm39)	E194G	probably damaging	Het
Esf1	A	G	2: 140,000,503 (GRCm39)	Y428H	possibly damaging	Het
Esyt2	T	C	12: 116,282,446 (GRCm39)	F132S	probably damaging	Het
Gm5455	T	C	13: 110,441,494 (GRCm39)		noncoding transcript	Het
Gria1	T	A	11: 57,080,623 (GRCm39)	V202E	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mark1	A	T	1: 184,660,288 (GRCm39)	F123I	probably damaging	Het
Nectin4	T	A	1: 171,212,825 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,934,971 (GRCm39)	T5220S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2l13	A	C	16: 19,305,680 (GRCm39)	I31L	probably benign	Het
Or2p2	T	A	13: 21,256,739 (GRCm39)	H244L	probably damaging	Het
Pdcd1	A	T	1: 93,980,175 (GRCm39)	V14E	probably damaging	Het
Pmel	A	G	10: 128,554,853 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,362 (GRCm39)	I454F	possibly damaging	Het
Prrx1	C	T	1: 163,089,542 (GRCm39)	R95Q	probably damaging	Het
Pstpip2	T	A	18: 77,962,032 (GRCm39)	Y267*	probably null	Het
Ptprq	A	G	10: 107,498,425 (GRCm39)	I884T	probably damaging	Het
Rad17	G	A	13: 100,770,399 (GRCm39)	T216I	possibly damaging	Het
Rif1	T	C	2: 51,967,032 (GRCm39)	I107T	probably benign	Het
Rpp14	T	C	14: 8,087,513 (GRCm38)	L69P	probably damaging	Het
Rtel1	G	T	2: 180,988,776 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,799,756 (GRCm39)	T362M	probably damaging	Het
Scn11a	A	G	9: 119,644,268 (GRCm39)		probably null	Het
Sec31a	G	T	5: 100,530,754 (GRCm39)	T243N	probably benign	Het
Slc5a9	T	A	4: 111,755,808 (GRCm39)	H30L	possibly damaging	Het
Slco6b1	T	A	1: 96,925,216 (GRCm39)		noncoding transcript	Het
Smarca4	A	G	9: 21,567,002 (GRCm39)	D694G	probably benign	Het
Spaca6	A	G	17: 18,058,367 (GRCm39)	T213A	probably benign	Het
Tcf7l2	A	G	19: 55,887,044 (GRCm39)	Q19R	probably benign	Het
Ttn	A	G	2: 76,709,197 (GRCm39)		probably benign	Het
Ubr7	A	T	12: 102,741,964 (GRCm39)	R399S	probably benign	Het
Uspl1	C	A	5: 149,150,911 (GRCm39)	Q690K	possibly damaging	Het
Vps8	T	A	16: 21,400,298 (GRCm39)	Y853*	probably null	Het
Vrk3	A	T	7: 44,409,220 (GRCm39)	Q129L	possibly damaging	Het
Wapl	T	A	14: 34,458,642 (GRCm39)	C901*	probably null	Het

Other mutations in Tagap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Tagap	APN	17	8,151,780 (GRCm39)	missense	probably benign	0.01
IGL02589:Tagap	APN	17	8,152,504 (GRCm39)	missense	possibly damaging	0.87
BB003:Tagap	UTSW	17	8,145,770 (GRCm39)	critical splice donor site	probably null
BB013:Tagap	UTSW	17	8,145,770 (GRCm39)	critical splice donor site	probably null
R1750:Tagap	UTSW	17	8,148,742 (GRCm39)	missense	probably benign	0.06
R1791:Tagap	UTSW	17	8,152,377 (GRCm39)	missense	probably benign	0.04
R1791:Tagap	UTSW	17	8,150,299 (GRCm39)	missense	probably damaging	1.00
R2509:Tagap	UTSW	17	8,147,586 (GRCm39)	missense	probably benign	0.00
R4093:Tagap	UTSW	17	8,148,255 (GRCm39)	missense	probably damaging	1.00
R4627:Tagap	UTSW	17	8,145,773 (GRCm39)	splice site	probably null
R4747:Tagap	UTSW	17	8,151,030 (GRCm39)	missense	probably benign
R5222:Tagap	UTSW	17	8,152,473 (GRCm39)	missense	possibly damaging	0.61
R5866:Tagap	UTSW	17	8,152,285 (GRCm39)	missense	probably damaging	0.98
R6392:Tagap	UTSW	17	8,152,893 (GRCm39)	missense	probably damaging	0.99
R6638:Tagap	UTSW	17	8,145,906 (GRCm39)	missense	possibly damaging	0.71
R6649:Tagap	UTSW	17	8,152,546 (GRCm39)	missense	probably benign	0.36
R6653:Tagap	UTSW	17	8,152,546 (GRCm39)	missense	probably benign	0.36
R7478:Tagap	UTSW	17	8,152,422 (GRCm39)	missense	possibly damaging	0.87
R7509:Tagap	UTSW	17	8,147,568 (GRCm39)	missense	probably damaging	0.99
R7926:Tagap	UTSW	17	8,145,770 (GRCm39)	critical splice donor site	probably null
R8549:Tagap	UTSW	17	8,152,797 (GRCm39)	missense	probably benign	0.36
R8747:Tagap	UTSW	17	8,147,602 (GRCm39)	missense	probably damaging	1.00
R9103:Tagap	UTSW	17	8,152,335 (GRCm39)	missense	probably benign	0.01
R9106:Tagap	UTSW	17	8,150,280 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCACCAGACACCAGAGTTTC -3'
(R):5'- ATACTCCCAACTGTCTGGCC -3'

Sequencing Primer
(F):5'- GACACCAGAGTTTCACAACAAAG -3'
(R):5'- AACTGTCTGGCCACCGTAG -3'

Posted On

2016-07-22