Incidental Mutation 'R4713:Gimap8'
ID 353361
Institutional Source Beutler Lab
Gene Symbol Gimap8
Ensembl Gene ENSMUSG00000064262
Gene Name GTPase, IMAP family member 8
Synonyms LOC243374, IAN9
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 48624168-48637809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48635920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 562 (M562L)
Ref Sequence ENSEMBL: ENSMUSP00000145255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078223] [ENSMUST00000203083] [ENSMUST00000203509]
AlphaFold Q75N62
Predicted Effect probably benign
Transcript: ENSMUST00000078223
SMART Domains Protein: ENSMUSP00000077350
Gene: ENSMUSG00000064262

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: M562L

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: M562L

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: M562L

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: M562L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
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. 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging 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
R2094:Gimap8 UTSW 6 48,627,502 (GRCm39) missense probably benign 0.00
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
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'- ACTATCCTGGGGAGATCTGC -3'
(R):5'- AACAGACCTTTCACCTGGGTC -3'

Sequencing Primer
(F):5'- CTGGGGAGATCTGCCTTCTTC -3'
(R):5'- AAACTCGCCCATTGCACTTTTTAAG -3'
Posted On 2015-10-21