Incidental Mutation 'R4571:Gimap3'
ID 342136
Institutional Source Beutler Lab
Gene Symbol Gimap3
Ensembl Gene ENSMUSG00000039264
Gene Name GTPase, IMAP family member 3
Synonyms 2010110D23Rik, Ian4
MMRRC Submission 041795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4571 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48741398-48747785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48742654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 92 (D92G)
Ref Sequence ENSEMBL: ENSMUSP00000145211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038811] [ENSMUST00000204036]
AlphaFold Q99MI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000038811
AA Change: D92G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047435
Gene: ENSMUSG00000039264
AA Change: D92G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000204036
AA Change: D92G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145211
Gene: ENSMUSG00000039264
AA Change: D92G

DomainStartEndE-ValueType
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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,920,884 (GRCm39) C1497S probably damaging Het
Acoxl G T 2: 127,719,727 (GRCm39) G163W probably damaging Het
Apbb1 T A 7: 105,222,969 (GRCm39) N214I probably damaging Het
Apol7b T C 15: 77,307,734 (GRCm39) K254E probably benign Het
Arl4d T A 11: 101,557,969 (GRCm39) V165E possibly damaging Het
Brca1 C A 11: 101,408,192 (GRCm39) R1377L probably benign Het
Btf3 A G 13: 98,449,792 (GRCm39) F65L probably benign Het
C2 T C 17: 35,082,635 (GRCm39) N495D probably benign Het
Cacna1c T C 6: 118,607,341 (GRCm39) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm39) D796E probably benign Het
Clasp2 G T 9: 113,676,789 (GRCm39) L173F probably damaging Het
Clec4g A T 8: 3,768,766 (GRCm39) probably null Het
Col9a3 T C 2: 180,258,159 (GRCm39) probably benign Het
Csmd2 T A 4: 128,373,888 (GRCm39) probably null Het
Ddx11 T C 17: 66,437,768 (GRCm39) C165R probably benign Het
Dnah7c A C 1: 46,572,376 (GRCm39) M950L probably damaging Het
Dusp23 A C 1: 172,460,181 (GRCm39) probably null Het
Ebag9 A T 15: 44,500,158 (GRCm39) probably null Het
Edn3 G A 2: 174,623,697 (GRCm39) A211T probably benign Het
Eif3e G A 15: 43,129,558 (GRCm39) T190I possibly damaging Het
Fam76a T C 4: 132,648,208 (GRCm39) H3R possibly damaging Het
Gabbr1 G T 17: 37,365,128 (GRCm39) E138* probably null Het
Galc T C 12: 98,188,876 (GRCm39) T412A probably benign Het
Gin1 T C 1: 97,712,801 (GRCm39) Y285H probably damaging Het
Gm4868 A G 5: 125,925,782 (GRCm39) noncoding transcript Het
Gm7052 T A 17: 22,259,405 (GRCm39) probably benign Het
Gpcpd1 T A 2: 132,392,270 (GRCm39) E226D probably benign Het
Hoxb4 T C 11: 96,209,992 (GRCm39) S133P possibly damaging Het
Hrg C T 16: 22,779,972 (GRCm39) probably benign Het
Insrr A G 3: 87,708,194 (GRCm39) K212R probably benign Het
Ipp A G 4: 116,387,655 (GRCm39) D411G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 A G 15: 65,902,461 (GRCm39) F172L probably damaging Het
Kdm5d T C Y: 927,110 (GRCm39) F616S probably damaging Het
Lars1 T C 18: 42,361,295 (GRCm39) probably null Het
Lmo7 G T 14: 102,125,030 (GRCm39) Q496H probably damaging Het
Map3k9 C A 12: 81,780,865 (GRCm39) A432S probably benign Het
Nop2 T G 6: 125,117,844 (GRCm39) probably null Het
Nup50l T A 6: 96,141,862 (GRCm39) N394I probably damaging Het
Or10ag53 C A 2: 87,082,802 (GRCm39) Q174K possibly damaging Het
Or2h2 T C 17: 37,396,471 (GRCm39) I195M probably damaging Het
Or5m11b A T 2: 85,806,175 (GRCm39) E196V probably damaging Het
Or6k2 A T 1: 173,986,494 (GRCm39) N52Y possibly damaging Het
Pan2 A G 10: 128,144,512 (GRCm39) T187A probably benign Het
Pcmtd2 A G 2: 181,484,217 (GRCm39) E9G possibly damaging Het
Pik3cb T A 9: 98,972,310 (GRCm39) I283F possibly damaging Het
Pkhd1 G A 1: 20,683,633 (GRCm39) T40I probably damaging Het
Plxna2 T C 1: 194,493,296 (GRCm39) V1857A possibly damaging Het
Polg T C 7: 79,110,127 (GRCm39) S334G probably damaging Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Slc6a18 A T 13: 73,814,489 (GRCm39) N468K possibly damaging Het
Slco4a1 A T 2: 180,106,171 (GRCm39) T118S probably benign Het
Smg1 A T 7: 117,738,688 (GRCm39) N3520K possibly damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Topaz1 A G 9: 122,576,501 (GRCm39) T31A probably benign Het
Trpv6 C T 6: 41,598,678 (GRCm39) R649H probably damaging Het
Vmn1r188 A G 13: 22,272,688 (GRCm39) Y214C probably benign Het
Vps8 T A 16: 21,254,525 (GRCm39) I59N probably damaging Het
Wnt9a T C 11: 59,222,163 (GRCm39) C354R probably damaging Het
Zcchc2 A G 1: 105,958,987 (GRCm39) T1153A possibly damaging Het
Zfp30 A G 7: 29,492,627 (GRCm39) R294G probably damaging Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp62 A C 11: 49,106,568 (GRCm39) S220R probably damaging Het
Zfp62 G T 11: 49,106,569 (GRCm39) S220I probably damaging Het
Zp3r A G 1: 130,505,757 (GRCm39) S423P probably damaging Het
Other mutations in Gimap3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTGGGTCACAAACTCTTCCAAG -3'
(R):5'- CAAATCTGGCTGCGGTAAAAGC -3'

Sequencing Primer
(F):5'- AAGGACTTCTCTGCCAGGTC -3'
(R):5'- TGCGGTAAAAGCGCCAC -3'
Posted On 2015-09-24