Incidental Mutation 'R4294:Gimap8'
ID 323213
Institutional Source Beutler Lab
Gene Symbol Gimap8
Ensembl Gene ENSMUSG00000064262
Gene Name GTPase, IMAP family member 8
Synonyms LOC243374, IAN9
MMRRC Submission 041083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4294 (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 48635891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 552 (H552L)
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: H552L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: H552L

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: H552L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: H552L

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: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (44/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik A T 19: 21,576,113 (GRCm39) probably null Het
Abca3 A G 17: 24,619,543 (GRCm39) I960M possibly damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bsnd C T 4: 106,342,355 (GRCm39) R271H probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Clip2 A C 5: 134,521,167 (GRCm39) V957G probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dlc1 A G 8: 37,051,907 (GRCm39) V608A possibly damaging Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Dock3 T A 9: 106,807,242 (GRCm39) R1362W probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gpr151 T C 18: 42,711,602 (GRCm39) T359A probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Magel2 T G 7: 62,028,515 (GRCm39) V473G possibly damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Nat8f1 T C 6: 85,887,637 (GRCm39) T108A probably benign Het
Nphp3 T A 9: 103,899,916 (GRCm39) L502Q probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Otud7a A G 7: 63,346,939 (GRCm39) D171G probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Rpl27-ps3 T A 18: 6,332,607 (GRCm39) probably null Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgsm1 A G 5: 113,433,270 (GRCm39) Y182H probably damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Thrb C T 14: 18,011,145 (GRCm38) Q174* probably null Het
Ticam1 A G 17: 56,578,339 (GRCm39) I252T probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Trpv1 C T 11: 73,131,290 (GRCm39) A276V probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r74 T A 7: 85,606,624 (GRCm39) I241F 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
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
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'- GGGAGATCTGCCTTCTTCTC -3'
(R):5'- ACAGACCTTTCACCTGGGTC -3'

Sequencing Primer
(F):5'- GCCTTCTTCTCCCAGCTCAGAG -3'
(R):5'- TAGTATAATCATGAAGGTCCCCATCC -3'
Posted On 2015-06-20