Incidental Mutation 'R5041:Gimap8'
ID 393207
Institutional Source Beutler Lab
Gene Symbol Gimap8
Ensembl Gene ENSMUSG00000064262
Gene Name GTPase, IMAP family member 8
Synonyms LOC243374, IAN9
MMRRC Submission 042631-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5041 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48624168-48637809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48636097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 621 (N621D)
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 damaging
Transcript: ENSMUST00000203083
AA Change: N621D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: N621D

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 damaging
Transcript: ENSMUST00000203509
AA Change: N621D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: N621D

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 0.2615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (42/43)
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
Adgrg7 A G 16: 56,550,711 (GRCm39) F667S probably benign Het
Akna A G 4: 63,305,381 (GRCm39) Y462H possibly damaging Het
Anxa11 G T 14: 25,875,188 (GRCm39) E278* probably null Het
Ap3s2 T C 7: 79,570,267 (GRCm39) Y20C probably benign Het
Atxn7 T C 14: 14,096,317 (GRCm38) probably null Het
AW551984 T C 9: 39,511,894 (GRCm39) Y39C probably damaging Het
Becn1 A T 11: 101,179,662 (GRCm39) S442T probably benign Het
Bhlhe40 C T 6: 108,639,546 (GRCm39) T108I probably damaging Het
Cnst A G 1: 179,432,593 (GRCm39) D252G probably damaging Het
Cpxm1 A G 2: 130,235,990 (GRCm39) S391P probably damaging Het
Ctnna2 T A 6: 76,892,746 (GRCm39) N814Y probably damaging Het
Ddx3y T A Y: 1,266,611 (GRCm39) Y282F probably benign Het
Ddx56 A G 11: 6,214,178 (GRCm39) V357A probably damaging Het
Frmpd1 T G 4: 45,278,878 (GRCm39) C534W probably damaging Het
Herc1 T A 9: 66,336,327 (GRCm39) I1624N possibly damaging Het
Htr7 A C 19: 36,034,467 (GRCm39) W63G probably benign Het
Ly6g6c T A 17: 35,284,428 (GRCm39) probably null Het
Macf1 T C 4: 123,290,839 (GRCm39) probably null Het
Mfrp A G 9: 44,013,575 (GRCm39) D62G probably damaging Het
Ncam1 T C 9: 49,478,085 (GRCm39) Y173C probably damaging Het
Nwd1 T C 8: 73,431,683 (GRCm39) V1185A possibly damaging Het
Or4c113 A T 2: 88,885,265 (GRCm39) C168* probably null Het
Or51h7 T C 7: 102,591,785 (GRCm39) probably null Het
Pcf11 G A 7: 92,307,613 (GRCm39) P852S probably benign Het
Pramel25 T C 4: 143,520,260 (GRCm39) V4A probably benign Het
Ralgapa2 T C 2: 146,327,071 (GRCm39) I63V probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Rubcnl T C 14: 75,287,572 (GRCm39) F619L probably damaging Het
Sec24d A T 3: 123,087,880 (GRCm39) Q247L probably damaging Het
Spmap2l A G 5: 77,203,928 (GRCm39) T319A probably benign Het
Spns3 G T 11: 72,427,373 (GRCm39) Q306K possibly damaging Het
Sstr1 T C 12: 58,259,941 (GRCm39) V188A possibly damaging Het
Supt5 A T 7: 28,014,805 (GRCm39) L1024Q probably damaging Het
Tent4b CCCAACAACGCCAACAA CCCAACAA 8: 88,981,878 (GRCm39) probably benign Het
Unc13b T A 4: 43,237,836 (GRCm39) H3452Q probably benign Het
Usp28 A G 9: 48,949,073 (GRCm39) Q864R probably benign Het
Vmn2r43 T C 7: 8,247,806 (GRCm39) T786A probably damaging Het
Yy1 TCACCACCACCACCACCACCACCACCACC TCACCACCACCACCACCACCACCACCACCACC 12: 108,759,557 (GRCm39) 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
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
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'- GTCTCTGCGAAGAAGGCATG -3'
(R):5'- CAGCCTTAAAACTGCTCACTTG -3'

Sequencing Primer
(F):5'- CGAAGAAGGCATGAAGATTTTTGTCC -3'
(R):5'- ATGCCATAGTAATTTGGCCTAGTG -3'
Posted On 2016-06-15