Mutagenetix > Incidental Mutation

Incidental Mutation 'R0333:Gimap3'

38331

Institutional Source

Beutler Lab

Gene Symbol

Gimap3

Ensembl Gene

ENSMUSG00000039264

Gene Name

GTPase, IMAP family member 3

Synonyms

2010110D23Rik, Ian4

MMRRC Submission

038542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48741398-48747785 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 48742664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 89 (Q89*)

Ref Sequence

ENSEMBL: ENSMUSP00000145211 (fasta)

Gene Model

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

AlphaFold

Q99MI6

Predicted Effect

probably null
Transcript: ENSMUST00000038811
AA Change: Q89*

SMART Domains

Protein: ENSMUSP00000047435
Gene: ENSMUSG00000039264
AA Change: Q89*

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 null
Transcript: ENSMUST00000204036
AA Change: Q89*

SMART Domains

Protein: ENSMUSP00000145211
Gene: ENSMUSG00000039264
AA Change: Q89*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (53/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	T	C	9: 106,118,480 (GRCm39)	N214S	probably benign	Het
Antxr1	A	G	6: 87,165,820 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,818 (GRCm39)		probably null	Het
Cab39l	A	G	14: 59,737,060 (GRCm39)	E60G	probably damaging	Het
Cdc5l	G	T	17: 45,704,142 (GRCm39)		probably benign	Het
Cux2	T	C	5: 121,998,671 (GRCm39)	E1423G	probably benign	Het
Dbndd1	G	T	8: 124,233,512 (GRCm39)	Q165K	probably damaging	Het
Drd1	C	A	13: 54,208,082 (GRCm39)	C37F	probably damaging	Het
Elp3	G	A	14: 65,828,042 (GRCm39)	P11L	probably benign	Het
F830045P16Rik	A	G	2: 129,314,777 (GRCm39)	Y167H	probably damaging	Het
H2ac25	C	A	11: 58,845,685 (GRCm39)	S41*	probably null	Het
Herc1	G	A	9: 66,371,981 (GRCm39)		probably null	Het
Ipo11	A	G	13: 107,007,271 (GRCm39)	V603A	probably benign	Het
Kifap3	G	A	1: 163,624,833 (GRCm39)	A130T	probably damaging	Het
Klhl23	A	G	2: 69,664,241 (GRCm39)	Y530C	probably damaging	Het
Map4k1	C	T	7: 28,699,186 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,600 (GRCm39)	L778M	probably damaging	Het
Mtdh	T	C	15: 34,118,247 (GRCm39)	S344P	possibly damaging	Het
Ncoa3	T	G	2: 165,896,211 (GRCm39)	N371K	probably damaging	Het
Ncor2	C	A	5: 125,111,408 (GRCm39)		probably benign	Het
Nrn1l	A	G	8: 106,621,052 (GRCm39)	E48G	probably benign	Het
Nudcd1	A	G	15: 44,264,683 (GRCm39)	I271T	probably benign	Het
Or1e17	A	T	11: 73,831,593 (GRCm39)	I174F	possibly damaging	Het
Or2t1	T	C	14: 14,328,498 (GRCm38)	L129P	probably damaging	Het
Pard3b	A	G	1: 62,269,371 (GRCm39)	N653S	probably benign	Het
Plekhg1	A	C	10: 3,914,419 (GRCm39)	K1380N	probably damaging	Het
Ppara	T	A	15: 85,675,161 (GRCm39)	I210N	probably damaging	Het
Ppp2r5b	A	G	19: 6,279,077 (GRCm39)		probably benign	Het
Prkn	T	C	17: 11,286,027 (GRCm39)	F6L	probably damaging	Het
Prr14l	A	G	5: 32,985,337 (GRCm39)	L1386P	probably damaging	Het
Ralgapa1	A	G	12: 55,829,685 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,134,240 (GRCm39)	L2563I	probably damaging	Het
Rps7	A	G	12: 28,681,200 (GRCm39)		probably benign	Het
Rslcan18	T	C	13: 67,246,686 (GRCm39)	K309E	probably damaging	Het
Sec14l5	C	T	16: 4,984,930 (GRCm39)	T92M	probably damaging	Het
Slc22a8	G	A	19: 8,585,514 (GRCm39)		probably benign	Het
Smad2	G	A	18: 76,395,692 (GRCm39)	A44T	probably damaging	Het
Smcr8	T	C	11: 60,671,048 (GRCm39)	V732A	possibly damaging	Het
Spata2l	A	G	8: 123,960,371 (GRCm39)	F306S	probably damaging	Het
Stab2	T	C	10: 86,677,491 (GRCm39)	D2552G	probably benign	Het
Tctn3	A	T	19: 40,595,711 (GRCm39)	L358H	possibly damaging	Het
Tk2	C	T	8: 104,975,146 (GRCm39)		probably benign	Het
Tm6sf2	C	T	8: 70,530,564 (GRCm39)	R215C	probably damaging	Het
Tmbim6	T	C	15: 99,304,555 (GRCm39)	I204T	probably damaging	Het
Tubgcp2	C	A	7: 139,579,260 (GRCm39)	W675C	probably damaging	Het
Usp48	T	A	4: 137,321,794 (GRCm39)	I62N	probably damaging	Het
Vmn2r74	T	C	7: 85,601,491 (GRCm39)	T716A	probably benign	Het
Vps13b	C	A	15: 35,879,949 (GRCm39)	T3008K	probably damaging	Het
Wnk1	G	A	6: 119,905,124 (GRCm39)		probably benign	Het

Other mutations in Gimap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Gimap3	APN	6	48,742,430 (GRCm39)	missense	probably damaging	1.00
IGL02141:Gimap3	APN	6	48,742,312 (GRCm39)	missense	probably benign	0.42
IGL02751:Gimap3	APN	6	48,742,172 (GRCm39)	missense	probably benign
R1081:Gimap3	UTSW	6	48,742,086 (GRCm39)	nonsense	probably null
R1911:Gimap3	UTSW	6	48,742,646 (GRCm39)	missense	possibly damaging	0.80
R1936:Gimap3	UTSW	6	48,742,683 (GRCm39)	missense	probably damaging	1.00
R2990:Gimap3	UTSW	6	48,742,785 (GRCm39)	missense	probably damaging	0.98
R4052:Gimap3	UTSW	6	48,743,447 (GRCm39)	missense	possibly damaging	0.53
R4433:Gimap3	UTSW	6	48,742,880 (GRCm39)	missense	possibly damaging	0.53
R4571:Gimap3	UTSW	6	48,742,654 (GRCm39)	missense	possibly damaging	0.74
R4672:Gimap3	UTSW	6	48,742,687 (GRCm39)	missense	probably damaging	0.99
R4709:Gimap3	UTSW	6	48,742,327 (GRCm39)	missense	probably benign	0.02
R5094:Gimap3	UTSW	6	48,742,306 (GRCm39)	missense	probably damaging	1.00
R5510:Gimap3	UTSW	6	48,742,183 (GRCm39)	missense	possibly damaging	0.93
R6876:Gimap3	UTSW	6	48,742,855 (GRCm39)	missense	probably damaging	1.00
R7359:Gimap3	UTSW	6	48,742,280 (GRCm39)	missense	probably benign	0.26
R7923:Gimap3	UTSW	6	48,742,561 (GRCm39)	missense	probably benign	0.33
R8322:Gimap3	UTSW	6	48,742,370 (GRCm39)	missense	possibly damaging	0.92
R9009:Gimap3	UTSW	6	48,742,094 (GRCm39)	missense	possibly damaging	0.61
R9051:Gimap3	UTSW	6	48,742,259 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCAGTGTGGGTCACAAACTCTTCC -3'
(R):5'- ATCCCAGAAGTCCCCTGTGTGATG -3'

Sequencing Primer
(F):5'- CCAAGGACTTCTCTGCCAG -3'
(R):5'- ATCCTCCTGGTGGGCAAATC -3'

Posted On

2013-05-23