Incidental Mutation 'R2276:Gimap9'
ID242799
Institutional Source Beutler Lab
Gene Symbol Gimap9
Ensembl Gene ENSMUSG00000051124
Gene NameGTPase, IMAP family member 9
Synonyms
MMRRC Submission 040275-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R2276 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location48676129-48679114 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48677878 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 133 (H133R)
Ref Sequence ENSEMBL: ENSMUSP00000050330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054050] [ENSMUST00000147936]
Predicted Effect probably benign
Transcript: ENSMUST00000054050
AA Change: H133R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050330
Gene: ENSMUSG00000051124
AA Change: H133R

DomainStartEndE-ValueType
Pfam:AIG1 9 219 8.5e-83 PFAM
Pfam:MMR_HSR1 10 157 3.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147936
AA Change: H123R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122830
Gene: ENSMUSG00000051124
AA Change: H123R

DomainStartEndE-ValueType
Pfam:MMR_HSR1 1 123 7.3e-11 PFAM
Pfam:AIG1 1 138 5.6e-61 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (65/65)
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]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,510,037 I1637L possibly damaging Het
Ankrd27 T C 7: 35,615,840 probably benign Het
Anxa3 T C 5: 96,830,490 probably null Het
Arfgef2 G C 2: 166,865,759 G1025A probably benign Het
Arhgap21 T C 2: 20,863,226 I829V possibly damaging Het
Arhgap42 T C 9: 9,035,511 M277V probably benign Het
Cep112 A T 11: 108,855,845 R176S probably damaging Het
Chd9 C T 8: 91,033,987 P2120L probably benign Het
Cnga1 C T 5: 72,619,061 V20I possibly damaging Het
Cpped1 A C 16: 11,894,881 probably null Het
Cr2 T C 1: 195,157,368 R960G possibly damaging Het
Dbf4 T C 5: 8,421,333 N36S possibly damaging Het
Dnah6 G A 6: 73,113,581 S2210L probably benign Het
Dnajb12 C T 10: 59,892,977 T229I probably benign Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Epb41l2 T C 10: 25,488,944 probably benign Het
Fam178b A G 1: 36,632,458 L194P probably damaging Het
Fam50b C T 13: 34,746,840 Q100* probably null Het
Gpbp1 A T 13: 111,466,978 probably null Het
Gpr89 A G 3: 96,897,427 Y38H probably damaging Het
Gsdmc3 T A 15: 63,860,256 Y307F probably benign Het
Hip1 C T 5: 135,457,046 R101K probably damaging Het
Hist4h4 T A 6: 136,804,301 I27F probably damaging Het
Hsf4 G A 8: 105,269,996 D18N probably null Het
Igfn1 T C 1: 135,964,741 K2214E probably damaging Het
Itgal A T 7: 127,328,747 E1038V probably null Het
Kank2 C A 9: 21,769,784 M816I probably damaging Het
Kctd15 T C 7: 34,644,941 D95G possibly damaging Het
Kif1a A T 1: 93,068,477 probably benign Het
Lgi4 T G 7: 31,060,612 L78V probably damaging Het
Lrrc7 A G 3: 158,179,792 F432L probably damaging Het
Madd A T 2: 91,143,683 C1419S possibly damaging Het
Nisch T C 14: 31,176,846 probably benign Het
Olfr93 A T 17: 37,151,254 C239* probably null Het
Osbpl2 G A 2: 180,148,526 G198S possibly damaging Het
Pclo T A 5: 14,714,273 D4253E unknown Het
Phactr1 A T 13: 43,077,789 S244C possibly damaging Het
Pja2 T C 17: 64,292,870 S478G probably damaging Het
Prex1 A T 2: 166,577,955 I79N probably benign Het
Ptpn4 T C 1: 119,684,591 D24G probably damaging Het
Rars2 T C 4: 34,656,835 S495P probably damaging Het
Rhebl1 A T 15: 98,878,286 D162E probably benign Het
Rhou T C 8: 123,655,519 V100A probably damaging Het
Rpn2 A G 2: 157,310,288 T394A possibly damaging Het
Ryr3 A T 2: 112,649,319 M4386K possibly damaging Het
Scmh1 G T 4: 120,483,672 C185F probably damaging Het
Sema3d A T 5: 12,542,582 Q326L possibly damaging Het
Sis T A 3: 72,914,601 K1376* probably null Het
Slc25a29 T C 12: 108,826,926 E242G probably benign Het
Slc26a5 A G 5: 21,823,547 V304A probably benign Het
Slc39a7 C T 17: 34,031,267 probably benign Het
Slco1a4 A G 6: 141,815,582 V435A possibly damaging Het
Syne2 A G 12: 75,927,466 E1146G possibly damaging Het
Tgm5 T A 2: 121,048,823 probably benign Het
Tgm7 A G 2: 121,098,564 S284P probably damaging Het
Tmem132d G A 5: 127,795,923 R541W probably damaging Het
Tmem170 C A 8: 111,869,717 V59L probably benign Het
Tpbgl G T 7: 99,626,026 A208E possibly damaging Het
Ttc23l A G 15: 10,523,592 I347T possibly damaging Het
Ulk1 T C 5: 110,788,162 E827G probably benign Het
Vps13a A G 19: 16,710,426 V886A possibly damaging Het
Wrn A T 8: 33,324,556 C44S probably benign Het
Zscan22 T A 7: 12,906,823 C331* probably null Het
Other mutations in Gimap9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Gimap9 APN 6 48677917 critical splice donor site probably null
IGL01568:Gimap9 APN 6 48677616 missense probably benign 0.07
R0442:Gimap9 UTSW 6 48678066 nonsense probably null
R1354:Gimap9 UTSW 6 48678048 missense probably benign 0.24
R6190:Gimap9 UTSW 6 48678351 missense probably damaging 1.00
R6930:Gimap9 UTSW 6 48677667 missense probably damaging 1.00
R7116:Gimap9 UTSW 6 48678055 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGGGCTCTTTGACACCAAG -3'
(R):5'- AGTAGGATCCGCCATTTTGG -3'

Sequencing Primer
(F):5'- TCTTTGACACCAAGGAGACCATG -3'
(R):5'- GGGCCACCATTTTCTCTGTCAG -3'
Posted On2014-10-16