Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01901:Tgtp1'

179534

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgtp1

Ensembl Gene

ENSMUSG00000078922

Gene Name

T cell specific GTPase 1

Synonyms

Mg21, Tgtp, Gtp2, Irgb6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

48876156-48883073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48878382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 108 (N108D)

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

possibly damaging
Transcript: ENSMUST00000068063
AA Change: N108D

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069914
Gene: ENSMUSG00000078922
AA Change: N108D

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

possibly damaging
Transcript: ENSMUST00000146439
AA Change: N108D

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123089
Gene: ENSMUSG00000078922
AA Change: N108D

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	G	14: 66,272,678 (GRCm39)		probably benign	Het
Aldh1a7	T	G	19: 20,695,103 (GRCm39)	Y154S	probably damaging	Het
Casc3	A	G	11: 98,713,947 (GRCm39)	D393G	probably damaging	Het
Cd180	A	G	13: 102,842,936 (GRCm39)	I661V	probably benign	Het
Cdh1	T	C	8: 107,384,392 (GRCm39)	S287P	probably damaging	Het
Clnk	T	C	5: 38,952,321 (GRCm39)	N6S	probably damaging	Het
Cstdc6	C	A	16: 36,154,625 (GRCm39)	A11S	probably damaging	Het
Cyp17a1	C	T	19: 46,659,531 (GRCm39)	V100M	possibly damaging	Het
Ddhd2	A	G	8: 26,238,621 (GRCm39)	V53A	probably damaging	Het
Elovl7	T	A	13: 108,410,927 (GRCm39)		probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm14180	A	G	11: 99,625,053 (GRCm39)	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Golga5	G	A	12: 102,446,061 (GRCm39)		probably null	Het
Gpr162	A	T	6: 124,838,370 (GRCm39)	F93L	possibly damaging	Het
Kcnh8	G	A	17: 53,201,148 (GRCm39)		probably benign	Het
Lamp3	A	T	16: 19,492,169 (GRCm39)	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591 (GRCm39)	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,940,374 (GRCm39)	D211G	probably benign	Het
Ms4a3	T	C	19: 11,616,630 (GRCm39)	E4G	possibly damaging	Het
Myo15a	A	G	11: 60,418,260 (GRCm39)		probably benign	Het
Or2ag16	A	G	7: 106,351,752 (GRCm39)	V281A	possibly damaging	Het
Or4c10b	A	G	2: 89,711,826 (GRCm39)	I219V	probably damaging	Het
Or51aa2	A	T	7: 103,188,177 (GRCm39)	L88Q	probably damaging	Het
Or51q1c	A	G	7: 103,653,274 (GRCm39)	H264R	probably damaging	Het
Or5b12	T	C	19: 12,896,947 (GRCm39)	H242R	probably damaging	Het
Or6c217	A	G	10: 129,737,722 (GRCm39)	F286L	probably benign	Het
Penk	T	C	4: 4,134,465 (GRCm39)	I61V	probably benign	Het
Pkhd1	T	A	1: 20,290,307 (GRCm39)	K2860N	probably benign	Het
Prtg	C	T	9: 72,762,348 (GRCm39)	P492S	probably damaging	Het
Spata31e2	A	G	1: 26,721,665 (GRCm39)	F1172L	probably benign	Het
Tdrd7	T	C	4: 45,989,225 (GRCm39)		probably benign	Het
Terf2ip	A	G	8: 112,738,700 (GRCm39)	N196S	probably benign	Het
Thumpd3	A	G	6: 113,036,932 (GRCm39)	H277R	probably benign	Het
Tshz2	T	A	2: 169,727,456 (GRCm39)	L215Q	possibly damaging	Het
Ube3c	T	A	5: 29,873,005 (GRCm39)	V1015E	probably damaging	Het
Utrn	T	A	10: 12,516,672 (GRCm39)	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,614,739 (GRCm39)	Y157C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Tgtp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4393:Tgtp1	UTSW	11	48,878,450 (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

Posted On

2014-05-07