Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Gimap3'

355472

Institutional Source

Beutler Lab

Gene Symbol

Gimap3

Ensembl Gene

ENSMUSG00000039264

Gene Name

GTPase, IMAP family member 3

Synonyms

2010110D23Rik, Ian4

MMRRC Submission

042018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48741398-48747785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48742327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 201 (L201Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145211 (fasta)

Gene Model

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

AlphaFold

Q99MI6

Predicted Effect

probably benign
Transcript: ENSMUST00000038811
AA Change: L201Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047435
Gene: ENSMUSG00000039264
AA Change: L201Q

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: L201Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000145211
Gene: ENSMUSG00000039264
AA Change: L201Q

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cers2	A	G	3: 95,227,534 (GRCm39)	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grhl1	A	G	12: 24,636,132 (GRCm39)	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,605,523 (GRCm39)	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Incenp	G	A	19: 9,853,964 (GRCm39)	R696W	unknown	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,573,443 (GRCm39)	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2ak4	T	C	11: 58,649,013 (GRCm39)	V174A	possibly damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	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
R0333:Gimap3	UTSW	6	48,742,664 (GRCm39)	nonsense	probably null
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
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'- TTTTGCCTATGGGGAGGACC -3'
(R):5'- AGGCACATGATCGTCCTCTTC -3'

Sequencing Primer
(F):5'- CCTATGGGGAGGACCTTGAG -3'
(R):5'- ATCGTCCTCTTCACCCGCAAG -3'

Posted On

2015-10-21