Incidental Mutation 'IGL00899:Gimap5'
ID27581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gimap5
Ensembl Gene ENSMUSG00000043505
Gene NameGTPase, IMAP family member 5
SynonymsE230026N22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00899
Quality Score
Status
Chromosome6
Chromosomal Location48746197-48754210 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 48753173 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 226 (A226T)
Ref Sequence ENSEMBL: ENSMUSP00000056820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055558] [ENSMUST00000127537] [ENSMUST00000204408]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055558
AA Change: A226T

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056820
Gene: ENSMUSG00000043505
AA Change: A226T

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AU018091 A G 7: 3,158,763 I442T probably benign Het
Bpifb9a T C 2: 154,264,727 probably null Het
Ccp110 T A 7: 118,722,684 C521S probably benign Het
Chd6 A G 2: 161,029,298 probably benign Het
Cndp2 A T 18: 84,677,376 D133E probably damaging Het
Crygs T C 16: 22,806,562 E43G possibly damaging Het
Ednra C T 8: 77,675,071 G197R probably damaging Het
Esyt1 A G 10: 128,517,063 L656P probably damaging Het
Ets1 C T 9: 32,752,808 P118L probably damaging Het
Fam98c A G 7: 29,152,853 probably benign Het
Foxi1 G A 11: 34,205,772 T286I probably benign Het
Heatr1 C T 13: 12,435,176 A2017V probably benign Het
Ikbkb T C 8: 22,660,447 S740G possibly damaging Het
Inppl1 A T 7: 101,829,158 I617N probably damaging Het
Itpkb T C 1: 180,332,993 L228P probably benign Het
Kcnc4 T A 3: 107,458,463 D143V possibly damaging Het
Krtdap T A 7: 30,789,962 probably null Het
Lilra6 T A 7: 3,913,057 T268S probably damaging Het
M6pr A G 6: 122,315,395 E183G possibly damaging Het
Muc5ac T A 7: 141,812,703 V2168D possibly damaging Het
Nbea A G 3: 55,642,845 S2721P probably benign Het
Olfr352 A T 2: 36,870,210 I215L probably benign Het
Pqbp1 T C X: 7,896,004 N94S probably benign Het
Prl3d2 T C 13: 27,122,349 S20P probably damaging Het
Psmb2 T C 4: 126,707,557 I151T probably benign Het
Rapgef6 G T 11: 54,620,018 E107* probably null Het
Slc2a13 T C 15: 91,497,399 T296A probably benign Het
Tcl1b4 A G 12: 105,204,657 T55A probably damaging Het
Tg T C 15: 66,674,073 probably null Het
Trim80 T G 11: 115,447,665 N440K probably benign Het
Ttc13 C T 8: 124,688,847 probably benign Het
Ttc38 T A 15: 85,844,462 I205N possibly damaging Het
Ufl1 T C 4: 25,262,238 D336G probably damaging Het
Vmn2r74 A T 7: 85,957,130 I336K probably benign Het
Zbtb26 G T 2: 37,436,258 Y255* probably null Het
Zfp462 T A 4: 55,007,732 V57E probably damaging Het
Other mutations in Gimap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Gimap5 APN 6 48753065 missense probably damaging 1.00
IGL01995:Gimap5 APN 6 48752793 missense probably damaging 1.00
IGL02371:Gimap5 APN 6 48753003 missense probably damaging 1.00
IGL02974:Gimap5 APN 6 48753377 missense possibly damaging 0.47
sphinx UTSW 6 48752609 missense probably damaging 1.00
R0321:Gimap5 UTSW 6 48750515 splice site probably benign
R1480:Gimap5 UTSW 6 48753030 missense probably damaging 1.00
R1655:Gimap5 UTSW 6 48753176 nonsense probably null
R1761:Gimap5 UTSW 6 48753261 missense probably damaging 1.00
Posted On2013-04-17