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
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0321 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48723131-48731134 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 48727449 bp (GRCm39)
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: 151,314,620 (GRCm39) T353A probably benign Het
4933402N03Rik T A 7: 130,747,956 (GRCm39) Y12F probably benign Het
Acbd3 T G 1: 180,579,870 (GRCm39) F505V probably damaging Het
Acod1 T C 14: 103,292,565 (GRCm39) V363A probably benign Het
Adam28 T C 14: 68,855,200 (GRCm39) Q647R probably damaging Het
Akr1c18 T A 13: 4,185,243 (GRCm39) L296F probably damaging Het
Ap1b1 G A 11: 4,982,464 (GRCm39) A588T probably benign Het
Armc8 A T 9: 99,415,230 (GRCm39) I150K probably damaging Het
Bahcc1 T C 11: 120,164,251 (GRCm39) probably null Het
Bltp1 T C 3: 36,960,937 (GRCm39) probably null Het
Carmil3 C A 14: 55,739,698 (GRCm39) D928E possibly damaging Het
Ccrl2 T C 9: 110,885,279 (GRCm39) N73S probably damaging Het
Cdk9 C A 2: 32,602,698 (GRCm39) probably benign Het
Cel G T 2: 28,451,160 (GRCm39) Q66K probably benign Het
D930028M14Rik T A 7: 24,854,991 (GRCm39) noncoding transcript Het
Dgka G C 10: 128,556,952 (GRCm39) probably benign Het
Dlg1 T C 16: 31,676,854 (GRCm39) V801A probably damaging Het
Dnah10 A G 5: 124,900,416 (GRCm39) D3834G probably benign Het
Dnajc15 C T 14: 78,112,273 (GRCm39) A23T possibly damaging Het
Ell2 T A 13: 75,910,007 (GRCm39) L119Q probably damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
F10 T C 8: 13,103,413 (GRCm39) F266L possibly damaging Het
Fam110a T C 2: 151,812,587 (GRCm39) N61S probably benign Het
Fam83c C T 2: 155,671,620 (GRCm39) S605N probably benign Het
Fbxw15 C T 9: 109,394,453 (GRCm39) V121I probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gfi1b A G 2: 28,503,897 (GRCm39) F101S probably damaging Het
Gpr180 T C 14: 118,385,699 (GRCm39) probably null Het
Gsn T C 2: 35,180,408 (GRCm39) F188L probably benign Het
Hivep3 T A 4: 119,952,788 (GRCm39) I368N possibly damaging Het
Itih3 T A 14: 30,634,063 (GRCm39) I153F probably damaging Het
Kdm8 A T 7: 125,060,178 (GRCm39) Q360L probably damaging Het
Lars1 T C 18: 42,335,697 (GRCm39) K1140E probably damaging Het
Mocs1 A G 17: 49,740,286 (GRCm39) Y71C probably damaging Het
Mroh5 C T 15: 73,661,892 (GRCm39) G433E probably damaging Het
Mrpl45 T A 11: 97,217,764 (GRCm39) probably benign Het
Mtcl1 T A 17: 66,686,426 (GRCm39) T827S probably damaging Het
Muc5b T C 7: 141,415,972 (GRCm39) S2973P probably benign Het
Mynn T C 3: 30,661,706 (GRCm39) S263P probably benign Het
Myo1f A C 17: 33,811,986 (GRCm39) D595A probably benign Het
Necab1 A T 4: 14,960,083 (GRCm39) I288N probably damaging Het
Nutm2 T G 13: 50,626,991 (GRCm39) M382R probably damaging Het
Oprm1 T C 10: 6,779,183 (GRCm39) S131P probably damaging Het
Pcsk9 A G 4: 106,301,891 (GRCm39) S619P probably benign Het
Phkg1 A T 5: 129,898,365 (GRCm39) M1K probably null Het
Pigc C T 1: 161,798,668 (GRCm39) Q217* probably null Het
Pik3r4 T A 9: 105,525,906 (GRCm39) F259I probably damaging Het
Pkdcc A T 17: 83,529,541 (GRCm39) probably benign Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prtg A T 9: 72,755,307 (GRCm39) I259F possibly damaging Het
Prune2 T G 19: 17,098,291 (GRCm39) L1265R possibly damaging Het
Prune2 C T 19: 17,099,818 (GRCm39) A1774V probably benign Het
Rcn3 A G 7: 44,738,139 (GRCm39) probably benign Het
Rnf213 C T 11: 119,328,931 (GRCm39) Q2067* probably null Het
Sec14l1 T A 11: 117,041,568 (GRCm39) probably benign Het
Serpinb3a C T 1: 106,975,212 (GRCm39) W198* probably null Het
Smpdl3b A T 4: 132,468,755 (GRCm39) V154E probably damaging Het
Spag17 T C 3: 100,008,719 (GRCm39) S1950P probably damaging Het
Sprr1a T C 3: 92,391,609 (GRCm39) T131A probably benign Het
Tatdn2 T G 6: 113,686,462 (GRCm39) L690W probably damaging Het
Tbc1d1 T C 5: 64,496,937 (GRCm39) F864L probably damaging Het
Tmem8b C A 4: 43,674,444 (GRCm39) R243S probably damaging Het
Tnfrsf11a T A 1: 105,772,583 (GRCm39) C623* probably null Het
Tprg1l T C 4: 154,243,812 (GRCm39) N115D probably damaging Het
Ube2t C T 1: 134,895,538 (GRCm39) A4V possibly damaging Het
Vps41 G A 13: 19,026,465 (GRCm39) probably benign Het
Wdr17 C T 8: 55,149,303 (GRCm39) probably null Het
Wwc1 G A 11: 35,732,637 (GRCm39) Q1024* probably null Het
Zfand5 T A 19: 21,253,879 (GRCm39) N27K probably damaging Het
Zfp142 A T 1: 74,608,873 (GRCm39) C1641S probably damaging Het
Zfyve16 A G 13: 92,629,042 (GRCm39) I1465T probably damaging Het
Zswim1 G A 2: 164,667,947 (GRCm39) G400S probably benign Het
Zswim3 C T 2: 164,662,279 (GRCm39) A253V possibly 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
IGL01995:Gimap5 APN 6 48,729,727 (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
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
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