Incidental Mutation 'R2094:Gimap8'
ID 231968
Institutional Source Beutler Lab
Gene Symbol Gimap8
Ensembl Gene ENSMUSG00000064262
Gene Name GTPase, IMAP family member 8
Synonyms LOC243374, IAN9
MMRRC Submission 040098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48624168-48637809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48627502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 159 (I159F)
Ref Sequence ENSEMBL: ENSMUSP00000077350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078223] [ENSMUST00000203083] [ENSMUST00000203509]
AlphaFold Q75N62
Predicted Effect probably benign
Transcript: ENSMUST00000078223
AA Change: I159F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077350
Gene: ENSMUSG00000064262
AA Change: I159F

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:AIG1 49 251 1.5e-55 PFAM
Pfam:MMR_HSR1 50 173 4.7e-7 PFAM
Pfam:AIG1 285 473 7.7e-51 PFAM
Pfam:AIG1 476 682 4.2e-67 PFAM
Pfam:MMR_HSR1 477 603 3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203083
AA Change: I159F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: I159F

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:AIG1 49 251 1.5e-55 PFAM
Pfam:MMR_HSR1 50 173 4.7e-7 PFAM
Pfam:AIG1 285 473 7.7e-51 PFAM
Pfam:AIG1 476 682 4.2e-67 PFAM
Pfam:MMR_HSR1 477 603 3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203509
AA Change: I159F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: I159F

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:AIG1 49 251 1.5e-55 PFAM
Pfam:MMR_HSR1 50 173 4.7e-7 PFAM
Pfam:AIG1 285 473 7.7e-51 PFAM
Pfam:AIG1 476 682 4.2e-67 PFAM
Pfam:MMR_HSR1 477 603 3e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
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. The encoded protein is larger than the other gene family members and includes three AIG1 domains (corresponding to the AIG1 protein from Arabidopsis thaliana) whereas other family members have one AIG1 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A probably benign Het
Other mutations in Gimap8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Gimap8 APN 6 48,635,701 (GRCm39) missense probably damaging 1.00
IGL02830:Gimap8 APN 6 48,633,239 (GRCm39) missense probably benign 0.01
Kangchenjunga UTSW 6 48,636,097 (GRCm39) missense probably damaging 1.00
lhotse UTSW 6 48,635,888 (GRCm39) missense possibly damaging 0.74
Makalu UTSW 6 48,633,122 (GRCm39) missense probably damaging 1.00
R1224:Gimap8 UTSW 6 48,627,629 (GRCm39) missense probably benign 0.04
R1386:Gimap8 UTSW 6 48,633,587 (GRCm39) missense probably benign 0.04
R1503:Gimap8 UTSW 6 48,624,463 (GRCm39) critical splice donor site probably null
R1560:Gimap8 UTSW 6 48,633,068 (GRCm39) missense probably damaging 1.00
R1681:Gimap8 UTSW 6 48,633,345 (GRCm39) missense probably benign 0.01
R2012:Gimap8 UTSW 6 48,633,287 (GRCm39) missense probably damaging 0.98
R2937:Gimap8 UTSW 6 48,635,730 (GRCm39) missense possibly damaging 0.55
R2938:Gimap8 UTSW 6 48,635,730 (GRCm39) missense possibly damaging 0.55
R3147:Gimap8 UTSW 6 48,627,440 (GRCm39) missense probably damaging 1.00
R4276:Gimap8 UTSW 6 48,636,017 (GRCm39) missense probably benign 0.35
R4281:Gimap8 UTSW 6 48,635,754 (GRCm39) missense probably benign 0.37
R4294:Gimap8 UTSW 6 48,635,891 (GRCm39) missense probably benign 0.00
R4713:Gimap8 UTSW 6 48,635,920 (GRCm39) missense probably benign 0.23
R4750:Gimap8 UTSW 6 48,627,361 (GRCm39) missense probably benign 0.01
R4896:Gimap8 UTSW 6 48,636,281 (GRCm39) missense possibly damaging 0.85
R4936:Gimap8 UTSW 6 48,633,068 (GRCm39) missense probably damaging 1.00
R5041:Gimap8 UTSW 6 48,636,097 (GRCm39) missense probably damaging 1.00
R5091:Gimap8 UTSW 6 48,633,581 (GRCm39) missense possibly damaging 0.91
R5215:Gimap8 UTSW 6 48,628,017 (GRCm39) missense possibly damaging 0.88
R5360:Gimap8 UTSW 6 48,633,236 (GRCm39) missense probably damaging 1.00
R6119:Gimap8 UTSW 6 48,635,888 (GRCm39) missense possibly damaging 0.74
R6221:Gimap8 UTSW 6 48,635,876 (GRCm39) missense probably damaging 1.00
R6450:Gimap8 UTSW 6 48,633,385 (GRCm39) missense probably benign 0.03
R7137:Gimap8 UTSW 6 48,627,187 (GRCm39) missense probably damaging 0.99
R7154:Gimap8 UTSW 6 48,633,122 (GRCm39) missense probably damaging 1.00
R7666:Gimap8 UTSW 6 48,636,089 (GRCm39) missense probably damaging 1.00
R7686:Gimap8 UTSW 6 48,633,006 (GRCm39) missense probably damaging 0.99
R7912:Gimap8 UTSW 6 48,627,999 (GRCm39) missense probably benign 0.09
R8467:Gimap8 UTSW 6 48,627,269 (GRCm39) missense probably benign 0.02
R8773:Gimap8 UTSW 6 48,633,545 (GRCm39) missense probably benign 0.01
R9202:Gimap8 UTSW 6 48,633,403 (GRCm39) missense probably benign 0.00
R9773:Gimap8 UTSW 6 48,633,568 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGTCATTGTCATCGATACCCC -3'
(R):5'- GCTCAGGGCTTTCCATCATC -3'

Sequencing Primer
(F):5'- GGTCATTGTCATCGATACCCCAGATC -3'
(R):5'- GCAGCTTGAACACCTGCAGTTC -3'
Posted On 2014-09-18