Incidental Mutation 'R0321:Gimap5'
ID 35858
Institutional Source Beutler Lab
Gene Symbol Gimap5
Ensembl Gene ENSMUSG00000043505
Gene Name GTPase, IMAP family member 5
Synonyms E230026N22Rik
MMRRC Submission 038531-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R0321 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48746197-48754210 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 48750515 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055558] [ENSMUST00000127537] [ENSMUST00000204408]
AlphaFold Q8BWF2
Predicted Effect probably benign
Transcript: ENSMUST00000055558
SMART Domains Protein: ENSMUSP00000056820
Gene: ENSMUSG00000043505

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: ENSMUST00000135174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147047
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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,472,700 T353A probably benign Het
4932438A13Rik T C 3: 36,906,788 probably null Het
4933402N03Rik T A 7: 131,146,227 Y12F probably benign Het
Acbd3 T G 1: 180,752,305 F505V probably damaging Het
Acod1 T C 14: 103,055,129 V363A probably benign Het
Adam28 T C 14: 68,617,751 Q647R probably damaging Het
Akr1c18 T A 13: 4,135,244 L296F probably damaging Het
Ap1b1 G A 11: 5,032,464 A588T probably benign Het
Armc8 A T 9: 99,533,177 I150K probably damaging Het
Bahcc1 T C 11: 120,273,425 probably null Het
Carmil3 C A 14: 55,502,241 D928E possibly damaging Het
Ccrl2 T C 9: 111,056,211 N73S probably damaging Het
Cdk9 C A 2: 32,712,686 probably benign Het
Cel G T 2: 28,561,148 Q66K probably benign Het
D930028M14Rik T A 7: 25,155,566 noncoding transcript Het
Dgka G C 10: 128,721,083 probably benign Het
Dlg1 T C 16: 31,858,036 V801A probably damaging Het
Dnah10 A G 5: 124,823,352 D3834G probably benign Het
Dnajc15 C T 14: 77,874,833 A23T possibly damaging Het
Ell2 T A 13: 75,761,888 L119Q probably damaging Het
Epha2 T C 4: 141,308,405 W51R probably damaging Het
F10 T C 8: 13,053,413 F266L possibly damaging Het
Fam110a T C 2: 151,970,667 N61S probably benign Het
Fam83c C T 2: 155,829,700 S605N probably benign Het
Fbxw15 C T 9: 109,565,385 V121I probably benign Het
Gart G A 16: 91,623,037 probably benign Het
Gfi1b A G 2: 28,613,885 F101S probably damaging Het
Gpr180 T C 14: 118,148,287 probably null Het
Gsn T C 2: 35,290,396 F188L probably benign Het
Hivep3 T A 4: 120,095,591 I368N possibly damaging Het
Itih3 T A 14: 30,912,106 I153F probably damaging Het
Kdm8 A T 7: 125,461,006 Q360L probably damaging Het
Lars T C 18: 42,202,632 K1140E probably damaging Het
Mocs1 A G 17: 49,433,258 Y71C probably damaging Het
Mroh5 C T 15: 73,790,043 G433E probably damaging Het
Mrpl45 T A 11: 97,326,938 probably benign Het
Mtcl1 T A 17: 66,379,431 T827S probably damaging Het
Muc5b T C 7: 141,862,235 S2973P probably benign Het
Mynn T C 3: 30,607,557 S263P probably benign Het
Myo1f A C 17: 33,593,012 D595A probably benign Het
Necab1 A T 4: 14,960,083 I288N probably damaging Het
Nutm2 T G 13: 50,472,955 M382R probably damaging Het
Oprm1 T C 10: 6,829,183 S131P probably damaging Het
Pcsk9 A G 4: 106,444,694 S619P probably benign Het
Phkg1 A T 5: 129,869,524 M1K probably null Het
Pigc C T 1: 161,971,099 Q217* probably null Het
Pik3r4 T A 9: 105,648,707 F259I probably damaging Het
Pkdcc A T 17: 83,222,112 probably benign Het
Pnpla5 G T 15: 84,120,719 L144M probably damaging Het
Prtg A T 9: 72,848,025 I259F possibly damaging Het
Prune2 T G 19: 17,120,927 L1265R possibly damaging Het
Prune2 C T 19: 17,122,454 A1774V probably benign Het
Rcn3 A G 7: 45,088,715 probably benign Het
Rnf213 C T 11: 119,438,105 Q2067* probably null Het
Sec14l1 T A 11: 117,150,742 probably benign Het
Serpinb3a C T 1: 107,047,482 W198* probably null Het
Smpdl3b A T 4: 132,741,444 V154E probably damaging Het
Spag17 T C 3: 100,101,403 S1950P probably damaging Het
Sprr1a T C 3: 92,484,302 T131A probably benign Het
Tatdn2 T G 6: 113,709,501 L690W probably damaging Het
Tbc1d1 T C 5: 64,339,594 F864L probably damaging Het
Tmem8b C A 4: 43,674,444 R243S probably damaging Het
Tnfrsf11a T A 1: 105,844,857 C623* probably null Het
Tprgl T C 4: 154,159,355 N115D probably damaging Het
Ube2t C T 1: 134,967,800 A4V possibly damaging Het
Vps41 G A 13: 18,842,295 probably benign Het
Wdr17 C T 8: 54,696,268 probably null Het
Wwc1 G A 11: 35,841,810 Q1024* probably null Het
Zfand5 T A 19: 21,276,515 N27K probably damaging Het
Zfp142 A T 1: 74,569,714 C1641S probably damaging Het
Zfyve16 A G 13: 92,492,534 I1465T probably damaging Het
Zswim1 G A 2: 164,826,027 G400S probably benign Het
Zswim3 C T 2: 164,820,359 A253V possibly damaging Het
Other mutations in Gimap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Gimap5 APN 6 48753173 missense possibly damaging 0.80
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
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
R7449:Gimap5 UTSW 6 48752904 missense probably damaging 1.00
R8519:Gimap5 UTSW 6 48753134 missense probably benign
R8525:Gimap5 UTSW 6 48752567 missense probably benign 0.02
Z1177:Gimap5 UTSW 6 48752885 missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ATAGCACATTGTGCCGCCTCAC -3'
(R):5'- ACTGTCACAATTAAGTTCCAGGCCC -3'

Sequencing Primer
(F):5'- ATTTGAAAGTAACACATAGGTCGG -3'
(R):5'- TCCACAGTGTTACAGAGgagtg -3'
Posted On 2013-05-09