Mutagenetix > Incidental Mutation

Incidental Mutation 'R3426:Igtp'

267886

Institutional Source

Beutler Lab

Gene Symbol

Igtp

Ensembl Gene

ENSMUSG00000078853

Gene Name

interferon gamma induced GTPase

Synonyms

Irgm3

MMRRC Submission

040644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58199556-58207591 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58206593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 197 (V197I)

Ref Sequence

ENSEMBL: ENSMUSP00000047356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035266] [ENSMUST00000058704] [ENSMUST00000094169] [ENSMUST00000168280]

AlphaFold

Q9DCE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035266
AA Change: V197I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047356
Gene: ENSMUSG00000078853
AA Change: V197I

Domain	Start	End	E-Value	Type
Pfam:IIGP	50	412	4.6e-161	PFAM
Pfam:MMR_HSR1	86	200	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058704

SMART Domains

Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874

Domain	Start	End	E-Value	Type
Pfam:IIGP	30	387	8.1e-165	PFAM
Pfam:MMR_HSR1	66	179	9.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094169

Predicted Effect

probably benign
Transcript: ENSMUST00000168280

Meta Mutation Damage Score

0.2731

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. They do have a severely compromised response to Toxoplasma gondii infections however [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	A	8: 24,667,604	C110F	probably damaging	Het
Adrb3	T	C	8: 27,228,181	D80G	probably damaging	Het
Akap6	A	T	12: 52,888,034	N770Y	probably damaging	Het
Ank3	A	G	10: 69,706,894	H28R	probably benign	Het
Atrn	A	G	2: 131,020,956	M1319V	probably benign	Het
BC034090	T	C	1: 155,241,498	I291M	probably benign	Het
Cc2d2a	T	C	5: 43,736,109	S1416P	probably benign	Het
Chd6	G	T	2: 160,990,255	T999N	probably damaging	Het
Col9a2	C	A	4: 121,050,407	A335E	possibly damaging	Het
Epb42	A	T	2: 121,030,039	L160M	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Nup214	G	A	2: 32,033,403	V1315M	probably damaging	Het
Olfr1186	T	A	2: 88,525,864	C94S	probably damaging	Het
Plek	T	C	11: 16,990,142	Y166C	probably damaging	Het
Prdm4	T	C	10: 85,910,289	N85D	probably damaging	Het
Prelid1	T	G	13: 55,322,194	V2G	probably benign	Het
Serac1	T	C	17: 6,066,778	I168V	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc22a5	A	G	11: 53,869,326	V388A	probably benign	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpv3	A	T	11: 73,285,941	Y382F	probably damaging	Het
Ttyh1	T	C	7: 4,133,219		probably null	Het
Ubr2	T	C	17: 46,968,439	Y681C	probably damaging	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Utp14b	T	C	1: 78,665,339	M318T	probably damaging	Het
Vars2	A	T	17: 35,661,974	I442N	probably damaging	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Wtap	C	T	17: 12,967,538	R374Q	possibly damaging	Het
Zfp606	T	C	7: 12,489,664	M34T	probably damaging	Het

Other mutations in Igtp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Igtp	APN	11	58206144	missense	possibly damaging	0.66
IGL03326:Igtp	APN	11	58206228	missense	probably benign	0.01
R0281:Igtp	UTSW	11	58206054	missense	probably damaging	0.97
R2762:Igtp	UTSW	11	58206065	missense	possibly damaging	0.91
R3427:Igtp	UTSW	11	58206593	missense	probably damaging	0.99
R3428:Igtp	UTSW	11	58206593	missense	probably damaging	0.99
R4484:Igtp	UTSW	11	58206998	missense	possibly damaging	0.91
R4588:Igtp	UTSW	11	58206682	missense	probably damaging	1.00
R5299:Igtp	UTSW	11	58207133	missense	possibly damaging	0.79
R5652:Igtp	UTSW	11	58206629	missense	probably benign	0.07
R5662:Igtp	UTSW	11	58206279	missense	probably damaging	1.00
R5893:Igtp	UTSW	11	58206648	missense	probably damaging	1.00
R7657:Igtp	UTSW	11	58206828	missense	probably benign	0.02
R7738:Igtp	UTSW	11	58207080	missense	probably benign	0.00
R7989:Igtp	UTSW	11	58206379	missense	probably damaging	0.99
R8920:Igtp	UTSW	11	58206173	missense	probably damaging	0.98
R8986:Igtp	UTSW	11	58206121	critical splice donor site	probably null
R9103:Igtp	UTSW	11	58206900	missense
R9180:Igtp	UTSW	11	58207265	nonsense	probably null
R9375:Igtp	UTSW	11	58206200	missense	probably damaging	1.00
R9502:Igtp	UTSW	11	58206974	missense	possibly damaging	0.91
Z1186:Igtp	UTSW	11	58206343	missense	probably damaging	0.99
Z1186:Igtp	UTSW	11	58206965	missense	possibly damaging	0.55
Z1186:Igtp	UTSW	11	58207118	missense	probably benign	0.00
Z1187:Igtp	UTSW	11	58206343	missense	probably damaging	0.99
Z1187:Igtp	UTSW	11	58206965	missense	possibly damaging	0.55
Z1187:Igtp	UTSW	11	58207118	missense	probably benign	0.00
Z1188:Igtp	UTSW	11	58206343	missense	probably damaging	0.99
Z1188:Igtp	UTSW	11	58206965	missense	possibly damaging	0.55
Z1188:Igtp	UTSW	11	58207118	missense	probably benign	0.00
Z1189:Igtp	UTSW	11	58206343	missense	probably damaging	0.99
Z1189:Igtp	UTSW	11	58206965	missense	possibly damaging	0.55
Z1189:Igtp	UTSW	11	58207118	missense	probably benign	0.00
Z1190:Igtp	UTSW	11	58206343	missense	probably damaging	0.99
Z1190:Igtp	UTSW	11	58206590	missense	possibly damaging	0.84
Z1190:Igtp	UTSW	11	58206965	missense	possibly damaging	0.55
Z1190:Igtp	UTSW	11	58207118	missense	probably benign	0.00
Z1191:Igtp	UTSW	11	58206343	missense	probably damaging	0.99
Z1191:Igtp	UTSW	11	58206965	missense	possibly damaging	0.55
Z1191:Igtp	UTSW	11	58207118	missense	probably benign	0.00
Z1192:Igtp	UTSW	11	58206343	missense	probably damaging	0.99
Z1192:Igtp	UTSW	11	58206965	missense	possibly damaging	0.55
Z1192:Igtp	UTSW	11	58207118	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTTCCCTATGTGGAGCTGTG -3'
(R):5'- CTCTGTACCTGATGCTGAAGATG -3'

Sequencing Primer
(F):5'- CCTATGTGGAGCTGTGGGACC -3'
(R):5'- ACCTGATGCTGAAGATGTCTTTTTGC -3'

Posted On

2015-02-18