Incidental Mutation 'IGL02141:Gimap3'
ID281534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gimap3
Ensembl Gene ENSMUSG00000039264
Gene NameGTPase, IMAP family member 3
SynonymsIan4, 2010110D23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02141
Quality Score
Status
Chromosome6
Chromosomal Location48764464-48770851 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48765378 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 206 (E206G)
Ref Sequence ENSEMBL: ENSMUSP00000145211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038811] [ENSMUST00000204036]
Predicted Effect probably benign
Transcript: ENSMUST00000038811
AA Change: E206G

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047435
Gene: ENSMUSG00000039264
AA Change: E206G

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 probably benign
Transcript: ENSMUST00000204036
AA Change: E206G

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145211
Gene: ENSMUSG00000039264
AA Change: E206G

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
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 probably benign Het
4931423N10Rik T C 2: 23,230,200 F203L probably damaging Het
Arntl2 T A 6: 146,828,095 probably benign Het
Atf6b C A 17: 34,653,277 H539Q probably benign Het
Bpifb5 G T 2: 154,229,557 probably null Het
Cep89 T A 7: 35,420,924 M377K probably damaging Het
Clpx G T 9: 65,312,118 probably null Het
Cops5 T C 1: 10,035,117 K47E probably damaging Het
Cryba2 T C 1: 74,892,784 N35S probably benign Het
Ddx27 A G 2: 167,020,523 K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 S319P probably benign Het
Dram2 A G 3: 106,571,696 probably benign Het
Eci2 T A 13: 34,978,673 T300S probably benign Het
Egf C A 3: 129,739,982 G70* probably null Het
Eif5b T C 1: 38,032,322 V444A probably benign Het
Elf3 T C 1: 135,257,707 D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 probably null Het
Fam167a T A 14: 63,452,259 S2T probably benign Het
Flrt3 A G 2: 140,660,688 V340A probably damaging Het
Gp6 T C 7: 4,394,104 probably benign Het
Gpr158 A T 2: 21,783,290 M581L probably damaging Het
Hapln3 A G 7: 79,118,145 V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 T926M probably damaging Het
Lonp1 A T 17: 56,615,086 S765T probably benign Het
Lpp C T 16: 24,761,615 S27F probably damaging Het
Lrit2 T C 14: 37,068,074 probably benign Het
Luc7l C A 17: 26,253,080 T17K probably damaging Het
Mroh1 G T 15: 76,446,599 S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 C1091G unknown Het
Mut A G 17: 40,938,817 T228A possibly damaging Het
Nppb A T 4: 147,986,006 I11F probably benign Het
Nsf A T 11: 103,828,525 D650E probably benign Het
Ogdh A G 11: 6,355,015 K907E probably damaging Het
Olfr1351 A G 10: 79,017,721 Y133C probably damaging Het
Olfr344 A G 2: 36,568,808 D70G probably damaging Het
Olfr362 G A 2: 37,105,425 S75F probably benign Het
Pcnx A T 12: 81,860,382 Q4L possibly damaging Het
Pgc T A 17: 47,726,931 L9H probably damaging Het
Pikfyve T A 1: 65,246,397 S887T probably benign Het
Plec T C 15: 76,175,615 D3239G probably damaging Het
Pole4 T C 6: 82,648,034 T116A probably benign Het
Prpf8 A G 11: 75,490,672 N300D possibly damaging Het
Rara T A 11: 98,968,081 Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 N216K probably benign Het
Suox A G 10: 128,672,098 probably benign Het
Tars T A 15: 11,391,194 Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 probably null Het
Ubtd2 A T 11: 32,499,262 K36N probably benign Het
Unkl T C 17: 25,229,434 L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 Y9* probably null Het
Vps13b T C 15: 35,572,081 V948A probably benign Het
Zbtb17 A G 4: 141,464,953 H403R probably damaging Het
Other mutations in Gimap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01763:Gimap3 APN 6 48765496 missense probably damaging 1.00
IGL02751:Gimap3 APN 6 48765238 missense probably benign
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 On2015-04-16