Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Tgtp1'

326484

Institutional Source

Beutler Lab

Gene Symbol

Tgtp1

Ensembl Gene

ENSMUSG00000078922

Gene Name

T cell specific GTPase 1

Synonyms

Mg21, Tgtp, Gtp2, Irgb6

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4393 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

48876156-48883073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48878450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 85 (G85V)

Ref Sequence

ENSEMBL: ENSMUSP00000069914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000059930] [ENSMUST00000068063] [ENSMUST00000132745] [ENSMUST00000146439] [ENSMUST00000179282]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059930

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	8.4e-123	PFAM
Pfam:MMR_HSR1	63	190	2.2e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	3.4e-152	PFAM
Pfam:MMR_HSR1	474	632	1.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000068063
AA Change: G85V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069914
Gene: ENSMUSG00000078922
AA Change: G85V

Domain	Start	End	E-Value	Type
Pfam:IIGP	22	395	2.9e-178	PFAM
Pfam:MMR_HSR1	58	217	5.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132745

Predicted Effect

probably damaging
Transcript: ENSMUST00000146439
AA Change: G85V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123089
Gene: ENSMUSG00000078922
AA Change: G85V

Domain	Start	End	E-Value	Type
Pfam:IIGP	22	132	1.2e-58	PFAM
Pfam:FtsK_SpoIIIE	35	77	4.3e-8	PFAM
Pfam:MMR_HSR1	58	131	5.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Meta Mutation Damage Score

0.5934

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944 (GRCm39)		noncoding transcript	Het
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Adgrl1	T	C	8: 84,665,222 (GRCm39)	V1353A	probably benign	Het
Cep68	A	T	11: 20,188,544 (GRCm39)	N620K	probably benign	Het
Clcnkb	A	G	4: 141,139,547 (GRCm39)	S152P	probably benign	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Cyp26c1	G	A	19: 37,675,105 (GRCm39)	R142H	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg5	T	A	14: 24,228,057 (GRCm39)		probably null	Het
Dnai7	T	C	6: 145,140,304 (GRCm39)	T166A	possibly damaging	Het
Ebf3	C	T	7: 136,826,886 (GRCm39)	R342H	probably damaging	Het
Ece2	T	C	16: 20,451,598 (GRCm39)	V380A	probably damaging	Het
Epb41l4a	C	T	18: 34,024,473 (GRCm39)		probably null	Het
Erbb3	G	T	10: 128,408,639 (GRCm39)	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,398,674 (GRCm39)	M651K	probably benign	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Foxp2	A	C	6: 15,377,689 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,695 (GRCm39)	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Gm6408	A	T	5: 146,419,147 (GRCm39)	D54V	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,751,583 (GRCm39)	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577 (GRCm39)		probably null	Het
Immt	T	A	6: 71,849,784 (GRCm39)	S435T	probably benign	Het
Kcnip2	A	G	19: 45,800,669 (GRCm39)	L19P	probably benign	Het
Kctd2	T	C	11: 115,320,326 (GRCm39)		probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482 (GRCm39)	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Msl2	A	G	9: 100,978,676 (GRCm39)	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3a	A	T	2: 22,467,866 (GRCm39)	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,584,231 (GRCm39)	E396G	probably damaging	Het
Ogdh	G	A	11: 6,266,772 (GRCm39)	G141D	probably damaging	Het
Or10q1b	T	C	19: 13,682,554 (GRCm39)	I121T	possibly damaging	Het
Or2h2c	T	C	17: 37,424,971 (GRCm39)		probably benign	Het
Or5w1b	A	T	2: 87,476,256 (GRCm39)	C70*	probably null	Het
Orc2	C	A	1: 58,506,809 (GRCm39)		probably null	Het
P4ha3	C	T	7: 99,954,814 (GRCm39)	P291S	probably benign	Het
Pign	T	C	1: 105,449,751 (GRCm39)	K925R	probably benign	Het
Plekhm1	A	G	11: 103,267,791 (GRCm39)	S727P	possibly damaging	Het
Prr36	G	T	8: 4,264,901 (GRCm39)		probably benign	Het
Prrt3	A	G	6: 113,471,907 (GRCm39)	L755P	probably benign	Het
Secisbp2	A	G	13: 51,808,502 (GRCm39)	H89R	probably damaging	Het
Sgms2	A	T	3: 131,135,466 (GRCm39)		probably null	Het
Slc35d3	T	C	10: 19,725,352 (GRCm39)		probably null	Het
Slu7	T	A	11: 43,330,096 (GRCm39)	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,768,192 (GRCm39)	D219Y	probably damaging	Het
Tmem51	T	C	4: 141,759,242 (GRCm39)	T169A	probably benign	Het
Tmem69	C	T	4: 116,411,964 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,084,259 (GRCm39)	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,765,891 (GRCm39)	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,611,219 (GRCm39)	T756A	probably benign	Het
Zfp606	C	T	7: 12,226,776 (GRCm39)	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,087,265 (GRCm39)	T365S	probably benign	Het

Other mutations in Tgtp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Tgtp1	APN	11	48,878,382 (GRCm39)	missense	possibly damaging	0.87
PIT4366001:Tgtp1	UTSW	11	48,877,867 (GRCm39)	missense	possibly damaging	0.95
R0131:Tgtp1	UTSW	11	48,878,159 (GRCm39)	missense	probably benign
R0217:Tgtp1	UTSW	11	48,878,146 (GRCm39)	missense	probably benign	0.00
R0284:Tgtp1	UTSW	11	48,877,970 (GRCm39)	missense	probably benign	0.25
R0838:Tgtp1	UTSW	11	48,877,970 (GRCm39)	missense	probably benign	0.25
R1583:Tgtp1	UTSW	11	48,878,357 (GRCm39)	missense	probably damaging	1.00
R5329:Tgtp1	UTSW	11	48,878,003 (GRCm39)	missense	probably damaging	1.00
R7798:Tgtp1	UTSW	11	48,878,159 (GRCm39)	missense	probably benign
R8104:Tgtp1	UTSW	11	48,877,841 (GRCm39)	missense	probably damaging	1.00
R9051:Tgtp1	UTSW	11	48,877,916 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCCCCATCTGTGCAATGG -3'
(R):5'- CATCTCTGAATATGACATCACCTTG -3'

Sequencing Primer
(F):5'- CCCATCTGTGCAATGGCTTTGG -3'
(R):5'- CACCTTGATTATGACTTACATAGAGG -3'

Posted On

2015-07-06