Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02450:Tgtp2'

294110

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgtp2

Ensembl Gene

ENSMUSG00000078921

Gene Name

T cell specific GTPase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02450

Quality Score

Status

Chromosome

Chromosomal Location

48948021-48955033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48950317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 85 (G85D)

Ref Sequence

ENSEMBL: ENSMUSP00000045025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046745] [ENSMUST00000056759] [ENSMUST00000102785] [ENSMUST00000179282]

AlphaFold

Q3T9E4
Q62293

Predicted Effect

probably benign
Transcript: ENSMUST00000046745
AA Change: G85D

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045025
Gene: ENSMUSG00000078921
AA Change: G85D

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: 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: ENSMUST00000102785

SMART Domains

Protein: ENSMUSP00000099846
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

noncoding transcript
Transcript: ENSMUST00000128411

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
Aco2	A	G	15: 81,798,963 (GRCm39)	*781W	probably null	Het
Adamts16	C	A	13: 70,984,419 (GRCm39)	R81S	probably damaging	Het
Aldh1l1	A	G	6: 90,546,855 (GRCm39)	D386G	probably benign	Het
Anxa6	G	A	11: 54,885,767 (GRCm39)	R393W	probably damaging	Het
Bdnf	G	A	2: 109,553,949 (GRCm39)	V108I	possibly damaging	Het
Bpgm	C	T	6: 34,464,399 (GRCm39)	R39W	probably damaging	Het
Cd101	T	C	3: 100,901,054 (GRCm39)	E1006G	probably damaging	Het
Cd109	A	T	9: 78,603,132 (GRCm39)	E972V	possibly damaging	Het
Cdhr3	T	A	12: 33,132,224 (GRCm39)	Q133L	probably benign	Het
Cdk5r1	C	T	11: 80,368,666 (GRCm39)	A111V	probably benign	Het
Cnga4	A	T	7: 105,054,955 (GRCm39)	I77F	probably damaging	Het
Egfem1	G	A	3: 29,711,417 (GRCm39)		probably null	Het
Fbxl21	T	A	13: 56,674,766 (GRCm39)	V39D	possibly damaging	Het
Gimap6	T	C	6: 48,681,351 (GRCm39)	I94M	probably benign	Het
Glis1	T	C	4: 107,484,726 (GRCm39)	V407A	probably benign	Het
Gm5784	C	T	12: 19,437,970 (GRCm39)		noncoding transcript	Het
Gm9839	A	T	1: 32,559,964 (GRCm39)		probably benign	Het
Heatr5a	T	A	12: 51,992,213 (GRCm39)	M566L	probably benign	Het
Jph1	G	A	1: 17,074,201 (GRCm39)	P606S	possibly damaging	Het
Jup	C	T	11: 100,269,183 (GRCm39)	C410Y	probably damaging	Het
Kif23	A	G	9: 61,831,239 (GRCm39)	M777T	probably benign	Het
Lifr	G	T	15: 7,220,246 (GRCm39)	D959Y	probably damaging	Het
Lsm1	C	A	8: 26,283,806 (GRCm39)	L73I	possibly damaging	Het
Maneal	G	A	4: 124,750,928 (GRCm39)	A276V	probably benign	Het
Myh4	A	G	11: 67,142,635 (GRCm39)	D932G	probably damaging	Het
Nipbl	C	T	15: 8,373,058 (GRCm39)	V1063M	probably damaging	Het
Nlrx1	A	G	9: 44,164,798 (GRCm39)	V882A	probably benign	Het
Obox6	A	G	7: 15,567,638 (GRCm39)	C270R	probably damaging	Het
Or13a19	A	G	7: 139,903,140 (GRCm39)	H176R	possibly damaging	Het
Pard3b	A	G	1: 62,571,835 (GRCm39)	I925V	possibly damaging	Het
Pdhx	A	G	2: 102,872,594 (GRCm39)	S163P	probably benign	Het
Pdzrn3	T	C	6: 101,331,461 (GRCm39)	D271G	probably damaging	Het
Plec	A	G	15: 76,075,515 (GRCm39)	I399T	probably damaging	Het
Pthlh	T	G	6: 147,158,666 (GRCm39)	D98A	possibly damaging	Het
Spata31f3	A	G	4: 42,874,127 (GRCm39)	S14P	probably benign	Het
Spock3	T	A	8: 63,698,249 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,683,897 (GRCm39)	D739G	probably damaging	Het
Washc5	G	A	15: 59,204,166 (GRCm39)	R706*	probably null	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zscan20	G	T	4: 128,480,450 (GRCm39)	D680E	probably damaging	Het

Other mutations in Tgtp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Aha2016	UTSW	11	48,950,179 (GRCm39)	missense	probably damaging	1.00
R1498:Tgtp2	UTSW	11	48,950,165 (GRCm39)	missense	probably damaging	1.00
R1779:Tgtp2	UTSW	11	48,949,751 (GRCm39)	missense	probably benign
R1958:Tgtp2	UTSW	11	48,949,919 (GRCm39)	missense	probably damaging	1.00
R2402:Tgtp2	UTSW	11	48,949,957 (GRCm39)	missense	probably benign	0.00
R2962:Tgtp2	UTSW	11	48,950,363 (GRCm39)	missense	probably damaging	1.00
R4124:Tgtp2	UTSW	11	48,950,238 (GRCm39)	missense	probably damaging	0.99
R4484:Tgtp2	UTSW	11	48,950,179 (GRCm39)	missense	probably damaging	1.00
R4602:Tgtp2	UTSW	11	48,949,811 (GRCm39)	missense	probably damaging	1.00
R4772:Tgtp2	UTSW	11	48,949,811 (GRCm39)	missense	probably damaging	1.00
R4965:Tgtp2	UTSW	11	48,950,237 (GRCm39)	missense	probably damaging	1.00
R5263:Tgtp2	UTSW	11	48,950,090 (GRCm39)	missense	probably damaging	1.00
R5426:Tgtp2	UTSW	11	48,950,083 (GRCm39)	missense	probably benign
R7128:Tgtp2	UTSW	11	48,950,135 (GRCm39)	missense	possibly damaging	0.77
R7147:Tgtp2	UTSW	11	48,950,135 (GRCm39)	missense	probably damaging	1.00
R7188:Tgtp2	UTSW	11	48,950,135 (GRCm39)	missense	probably damaging	1.00
R8334:Tgtp2	UTSW	11	48,949,721 (GRCm39)	missense	probably benign	0.05
R9306:Tgtp2	UTSW	11	48,949,865 (GRCm39)	missense	probably benign	0.00
R9395:Tgtp2	UTSW	11	48,950,083 (GRCm39)	missense	probably benign
Z1177:Tgtp2	UTSW	11	48,950,178 (GRCm39)	missense	probably benign	0.18

Posted On

2015-04-16