Incidental Mutation 'IGL01995:Gimap5'
ID 183644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gimap5
Ensembl Gene ENSMUSG00000043505
Gene Name GTPase, IMAP family member 5
Synonyms E230026N22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01995
Quality Score
Status
Chromosome 6
Chromosomal Location 48723131-48731134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48729727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 99 (I99T)
Ref Sequence ENSEMBL: ENSMUSP00000056820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055558] [ENSMUST00000127537] [ENSMUST00000204408]
AlphaFold Q8BWF2
Predicted Effect probably damaging
Transcript: ENSMUST00000055558
AA Change: I99T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056820
Gene: ENSMUSG00000043505
AA Change: I99T

DomainStartEndE-ValueType
Pfam:AIG1 27 240 5.4e-80 PFAM
Pfam:MMR_HSR1 28 151 9.5e-8 PFAM
transmembrane domain 283 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203006
Predicted Effect probably benign
Transcript: ENSMUST00000204408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205203
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygouse for a knock-out allele display defects in lymphocyte development with hematopoietic defects and reduced life span. Mice homozygous for an ENU-induced allele exhibit premature death associated with extramedullary hematopoiesis in the liver, anemia, cachexia, and colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,401,302 (GRCm39) probably benign Het
AI661453 C A 17: 47,779,442 (GRCm39) probably benign Het
Arhgap29 G A 3: 121,807,977 (GRCm39) V1052I probably benign Het
Arhgef17 A G 7: 100,577,862 (GRCm39) S1029P probably benign Het
Arpc5l T C 2: 38,898,226 (GRCm39) S7P probably damaging Het
Asf1b A G 8: 84,682,533 (GRCm39) I26V probably benign Het
Cep95 T C 11: 106,697,197 (GRCm39) L240P probably damaging Het
Cnmd A G 14: 79,879,508 (GRCm39) probably benign Het
Cntn3 T A 6: 102,180,846 (GRCm39) N783I probably damaging Het
Col6a2 C A 10: 76,440,676 (GRCm39) probably benign Het
Col9a2 T C 4: 120,907,607 (GRCm39) probably null Het
Cry2 T C 2: 92,254,977 (GRCm39) E126G probably benign Het
Cxcl15 T C 5: 90,942,467 (GRCm39) V13A possibly damaging Het
Dbr1 A G 9: 99,465,952 (GRCm39) D510G probably benign Het
Dct A G 14: 118,271,655 (GRCm39) F392L probably damaging Het
Dgkz A G 2: 91,764,395 (GRCm39) probably benign Het
Dhrs7b A G 11: 60,721,541 (GRCm39) I2V probably benign Het
Efnb3 A T 11: 69,447,730 (GRCm39) probably null Het
Fbf1 T A 11: 116,041,846 (GRCm39) R565S probably null Het
Gm9912 A G 3: 148,891,085 (GRCm39) L16P unknown Het
Gpr17 A G 18: 32,080,187 (GRCm39) L292P probably damaging Het
Hdac10 C T 15: 89,011,801 (GRCm39) V129M probably damaging Het
Mfap3l A G 8: 61,124,498 (GRCm39) I247V possibly damaging Het
Mtus1 A T 8: 41,537,457 (GRCm39) S86R probably damaging Het
Mylk3 A G 8: 86,085,890 (GRCm39) S55P possibly damaging Het
Nol6 A T 4: 41,118,567 (GRCm39) C745S probably damaging Het
Nudt13 A T 14: 20,356,385 (GRCm39) E103D probably damaging Het
Or10ag59 A G 2: 87,405,806 (GRCm39) Y126C probably damaging Het
Or1e35 A G 11: 73,798,261 (GRCm39) I19T possibly damaging Het
Pdzk1 G T 3: 96,764,687 (GRCm39) A324S probably benign Het
Pofut2 T C 10: 77,096,515 (GRCm39) V80A possibly damaging Het
Rasip1 A G 7: 45,286,240 (GRCm39) D821G probably damaging Het
Rnf10 T A 5: 115,389,161 (GRCm39) K273* probably null Het
Slc4a9 A G 18: 36,672,828 (GRCm39) M811V possibly damaging Het
Smchd1 T C 17: 71,751,015 (GRCm39) D301G probably damaging Het
Tm9sf2 A T 14: 122,380,883 (GRCm39) T159S probably benign Het
Tom1l1 G A 11: 90,540,687 (GRCm39) P327S probably damaging Het
Trim3 A G 7: 105,267,689 (GRCm39) probably benign Het
Trpm6 A C 19: 18,807,691 (GRCm39) probably benign Het
Ttc13 A C 8: 125,415,621 (GRCm39) L245R probably damaging Het
Txnrd1 T A 10: 82,713,118 (GRCm39) V60E probably damaging Het
Ung T A 5: 114,274,447 (GRCm39) D173E probably benign Het
Zbtb5 A G 4: 44,995,294 (GRCm39) V30A probably damaging Het
Other mutations in Gimap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Gimap5 APN 6 48,730,107 (GRCm39) missense possibly damaging 0.80
IGL01936:Gimap5 APN 6 48,729,999 (GRCm39) missense probably damaging 1.00
IGL02371:Gimap5 APN 6 48,729,937 (GRCm39) missense probably damaging 1.00
IGL02974:Gimap5 APN 6 48,730,311 (GRCm39) missense possibly damaging 0.47
sphinx UTSW 6 48,729,543 (GRCm39) missense probably damaging 1.00
R0321:Gimap5 UTSW 6 48,727,449 (GRCm39) splice site probably benign
R1480:Gimap5 UTSW 6 48,729,964 (GRCm39) missense probably damaging 1.00
R1655:Gimap5 UTSW 6 48,730,110 (GRCm39) nonsense probably null
R1761:Gimap5 UTSW 6 48,730,195 (GRCm39) missense probably damaging 1.00
R7449:Gimap5 UTSW 6 48,729,838 (GRCm39) missense probably damaging 1.00
R8519:Gimap5 UTSW 6 48,730,068 (GRCm39) missense probably benign
R8525:Gimap5 UTSW 6 48,729,501 (GRCm39) missense probably benign 0.02
Z1177:Gimap5 UTSW 6 48,729,819 (GRCm39) missense possibly damaging 0.90
Posted On 2014-05-07