Incidental Mutation 'R1081:Gimap3'
ID 152688
Institutional Source Beutler Lab
Gene Symbol Gimap3
Ensembl Gene ENSMUSG00000039264
Gene Name GTPase, IMAP family member 3
Synonyms 2010110D23Rik, Ian4
MMRRC Submission 039167-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1081 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 48741398-48747785 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 48742086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 281 (C281*)
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: C281*
SMART Domains Protein: ENSMUSP00000047435
Gene: ENSMUSG00000039264
AA Change: C281*

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 null
Transcript: ENSMUST00000204036
AA Change: C281*
SMART Domains Protein: ENSMUSP00000145211
Gene: ENSMUSG00000039264
AA Change: C281*

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
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,002 (GRCm39) E309G probably benign Het
Abr T C 11: 76,346,441 (GRCm39) K448E probably damaging Het
Atxn2l T C 7: 126,093,384 (GRCm39) Y785C probably damaging Het
Atxn3 T G 12: 101,900,608 (GRCm39) D225A probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cntnap5c A G 17: 58,612,520 (GRCm39) D853G possibly damaging Het
Dnah9 A G 11: 65,975,703 (GRCm39) Y1449H probably damaging Het
Dsc2 T G 18: 20,166,352 (GRCm39) T760P probably damaging Het
Dync2h1 A T 9: 7,005,488 (GRCm39) probably null Het
Epg5 T C 18: 78,002,748 (GRCm39) F611L possibly damaging Het
Fat3 T C 9: 16,286,580 (GRCm39) D981G possibly damaging Het
Ids T C X: 69,404,716 (GRCm39) D149G possibly damaging Het
Inpp4b A G 8: 82,795,653 (GRCm39) I826V probably damaging Het
Kcnrg C A 14: 61,845,163 (GRCm39) H68N possibly damaging Het
Klra6 A G 6: 129,999,588 (GRCm39) Y127H probably damaging Het
Lypd10 T C 7: 24,412,967 (GRCm39) probably null Het
Mepce A G 5: 137,782,958 (GRCm39) L456P probably damaging Het
Mink1 T C 11: 70,497,861 (GRCm39) L488P probably benign Het
Mndal T A 1: 173,687,788 (GRCm39) E482V probably benign Het
Mob1b G A 5: 88,901,021 (GRCm39) V143I probably benign Het
Msh4 T C 3: 153,577,995 (GRCm39) E433G probably benign Het
Myof A T 19: 37,974,536 (GRCm39) I201N probably damaging Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Ntsr1 G A 2: 180,180,549 (GRCm39) S285N probably benign Het
Or2ak6 C T 11: 58,593,324 (GRCm39) H266Y probably damaging Het
Or4k2 A G 14: 50,424,654 (GRCm39) S7P probably damaging Het
Or51b4 T A 7: 103,531,384 (GRCm39) H22L possibly damaging Het
Or52ab7 A G 7: 102,978,245 (GRCm39) Y184C probably damaging Het
P2rx4 A G 5: 122,865,296 (GRCm39) E307G probably damaging Het
Pcdh15 A G 10: 74,286,145 (GRCm39) D793G probably damaging Het
Rpap1 G A 2: 119,601,750 (GRCm39) R737W probably damaging Het
Rpusd4 A G 9: 35,186,384 (GRCm39) K307E probably benign Het
Shtn1 T A 19: 58,963,447 (GRCm39) T623S probably benign Het
Sntg1 A G 1: 8,515,343 (GRCm39) C397R possibly damaging Het
Stat5a T C 11: 100,771,886 (GRCm39) F646S probably damaging Het
Tacc2 A G 7: 130,330,304 (GRCm39) E196G possibly damaging Het
Tcf25 T C 8: 124,108,212 (GRCm39) V89A probably benign Het
Trim7 G T 11: 48,740,532 (GRCm39) V210L probably damaging Het
Vmn2r57 A G 7: 41,077,635 (GRCm39) M177T possibly damaging Het
Wwc2 G A 8: 48,281,799 (GRCm39) probably benign Het
Zfp28 A G 7: 6,392,779 (GRCm39) I152V possibly damaging Het
Zfp628 A G 7: 4,923,182 (GRCm39) H468R probably damaging Het
Zfp770 A G 2: 114,027,608 (GRCm39) Y154H 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
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'- ACATGGAGGAAGATCACCTTCCCC -3'
(R):5'- AGTTTGTGACCCACACTGACAACC -3'

Sequencing Primer
(F):5'- GGCAGGAAATGACAAACCTTTAC -3'
(R):5'- GTACTGTGCCTTCAACAACAGG -3'
Posted On 2014-01-29