Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02751:Gimap3'

306279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gimap3

Ensembl Gene

ENSMUSG00000039264

Gene Name

GTPase, IMAP family member 3

Synonyms

Ian4, 2010110D23Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02751

Quality Score

Status

Chromosome

Chromosomal Location

48764464-48770851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48765238 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 253 (W253R)

Ref Sequence

ENSEMBL: ENSMUSP00000145211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038811] [ENSMUST00000204036]

Predicted Effect

probably benign
Transcript: ENSMUST00000038811
AA Change: W253R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047435
Gene: ENSMUSG00000039264
AA Change: W253R

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
Pfam:AIG1	23	234	1.5e-79	PFAM
Pfam:MMR_HSR1	24	147	5.3e-8	PFAM
transmembrane domain	280	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204036
AA Change: W253R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145211
Gene: ENSMUSG00000039264
AA Change: W253R

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
Pfam:AIG1	23	234	1.5e-79	PFAM
Pfam:MMR_HSR1	24	147	5.3e-8	PFAM
transmembrane domain	280	299	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a mitochondrial membrane protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The expression of this gene is induced in BCR/ABL-expressing cells. The encoded protein lacks an N-terminal mitochondrial signal sequence. Experimental studies showed that mitochondrial localization relies on the C-terminal transmembrane domain. In humans, the IAN subfamily genes are located in a cluster at 7q36.1 [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	A	T	14: 66,727,532	I324F	possibly damaging	Het
Ago2	G	A	15: 73,130,897	A162V	possibly damaging	Het
Aox4	G	T	1: 58,259,052	R1059I	probably damaging	Het
AU021092	C	A	16: 5,212,619	V304L	probably damaging	Het
Bcs1l	T	G	1: 74,589,616	F20V	probably damaging	Het
Braf	T	C	6: 39,660,867		probably benign	Het
Cacna1a	T	C	8: 84,569,952	C1200R	probably damaging	Het
Ccdc116	T	A	16: 17,141,972	R284S	probably benign	Het
Cntnap5a	T	G	1: 116,184,457		probably null	Het
Col12a1	A	T	9: 79,613,859		probably benign	Het
Cpa4	T	A	6: 30,581,740	Y229N	probably damaging	Het
Fbp1	A	C	13: 62,875,143		probably null	Het
Gm1330	G	A	2: 148,990,473		probably benign	Het
Gm4841	A	G	18: 60,271,021		probably benign	Het
Grip1	A	G	10: 119,978,577	T338A	probably benign	Het
Hmg20b	A	T	10: 81,346,551		probably benign	Het
Hnrnpdl	A	G	5: 100,037,974	F151L	probably damaging	Het
Klhl30	T	A	1: 91,354,099	F141I	probably damaging	Het
Lamc3	T	A	2: 31,920,704	F862Y	probably benign	Het
Lap3	T	C	5: 45,504,796	C313R	probably damaging	Het
Lrp2	T	C	2: 69,533,462	T344A	possibly damaging	Het
Mga	A	G	2: 119,947,770	E2023G	possibly damaging	Het
Mical2	A	T	7: 112,332,036	K735N	probably benign	Het
Muc15	A	G	2: 110,731,773	T185A	probably benign	Het
Olfr109	T	C	17: 37,466,415	C70R	probably damaging	Het
Osbp2	T	C	11: 3,863,434	K145R	probably benign	Het
Pde1c	T	C	6: 56,181,688	T52A	probably damaging	Het
Pidd1	A	G	7: 141,439,163	S802P	possibly damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prep	T	A	10: 45,115,186	I316N	probably damaging	Het
Prl3d2	G	A	13: 27,126,031		probably null	Het
Pygo1	A	T	9: 72,945,037	I169F	probably benign	Het
Rnf10	G	T	5: 115,242,666	A716E	probably benign	Het
Rtn4	G	A	11: 29,706,409		probably null	Het
Ryr1	A	T	7: 29,078,774	V2099E	probably damaging	Het
Slc48a1	G	A	15: 97,790,080		probably benign	Het
Spag17	T	A	3: 100,010,794	Y364*	probably null	Het
Syt3	A	T	7: 44,386,062	D31V	possibly damaging	Het
Tango2	G	T	16: 18,307,993	P143H	probably benign	Het
Tas2r104	A	G	6: 131,685,144	S201P	probably damaging	Het
Tas2r107	G	A	6: 131,659,484	L201F	probably damaging	Het
Vmn1r81	A	T	7: 12,260,447	L78Q	probably damaging	Het
Vmn2r18	T	A	5: 151,584,607	T351S	probably benign	Het

Other mutations in Gimap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Gimap3	APN	6	48765496	missense	probably damaging	1.00
IGL02141:Gimap3	APN	6	48765378	missense	probably benign	0.42
R0333:Gimap3	UTSW	6	48765730	nonsense	probably null
R1081:Gimap3	UTSW	6	48765152	nonsense	probably null
R1911:Gimap3	UTSW	6	48765712	missense	possibly damaging	0.80
R1936:Gimap3	UTSW	6	48765749	missense	probably damaging	1.00
R2990:Gimap3	UTSW	6	48765851	missense	probably damaging	0.98
R4052:Gimap3	UTSW	6	48766513	missense	possibly damaging	0.53
R4433:Gimap3	UTSW	6	48765946	missense	possibly damaging	0.53
R4571:Gimap3	UTSW	6	48765720	missense	possibly damaging	0.74
R4672:Gimap3	UTSW	6	48765753	missense	probably damaging	0.99
R4709:Gimap3	UTSW	6	48765393	missense	probably benign	0.02
R5094:Gimap3	UTSW	6	48765372	missense	probably damaging	1.00
R5510:Gimap3	UTSW	6	48765249	missense	possibly damaging	0.93
R6876:Gimap3	UTSW	6	48765921	missense	probably damaging	1.00
R7359:Gimap3	UTSW	6	48765346	missense	probably benign	0.26

Posted On

2015-04-16