Incidental Mutation 'R6930:Gimap9'
ID 539938
Institutional Source Beutler Lab
Gene Symbol Gimap9
Ensembl Gene ENSMUSG00000051124
Gene Name GTPase, IMAP family member 9
Synonyms
MMRRC Submission 045046-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6930 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48653084-48656050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48654601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 53 (D53N)
Ref Sequence ENSEMBL: ENSMUSP00000122830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054050] [ENSMUST00000147936]
AlphaFold G3X987
Predicted Effect probably damaging
Transcript: ENSMUST00000054050
AA Change: D63N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050330
Gene: ENSMUSG00000051124
AA Change: D63N

DomainStartEndE-ValueType
Pfam:AIG1 9 219 8.5e-83 PFAM
Pfam:MMR_HSR1 10 157 3.4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147936
AA Change: D53N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122830
Gene: ENSMUSG00000051124
AA Change: D53N

DomainStartEndE-ValueType
Pfam:MMR_HSR1 1 123 7.3e-11 PFAM
Pfam:AIG1 1 138 5.6e-61 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,466,563 (GRCm39) D156E probably benign Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Akr1e1 T C 13: 4,652,714 (GRCm39) D41G probably damaging Het
Alcam T C 16: 52,126,018 (GRCm39) I100V probably benign Het
Atr T C 9: 95,748,688 (GRCm39) I411T probably benign Het
Bbs4 T C 9: 59,230,764 (GRCm39) S453G probably benign Het
Brdt C T 5: 107,507,081 (GRCm39) L494F probably benign Het
Ccser1 T C 6: 62,357,009 (GRCm39) S816P probably benign Het
Cdk10 T C 8: 123,957,347 (GRCm39) I157T probably damaging Het
Ceacam5 G A 7: 17,484,759 (GRCm39) probably null Het
Chst15 T C 7: 131,870,759 (GRCm39) I259V possibly damaging Het
Cracdl A T 1: 37,664,026 (GRCm39) I624N possibly damaging Het
Csmd1 A T 8: 16,142,409 (GRCm39) M1498K probably damaging Het
D630045J12Rik T C 6: 38,135,151 (GRCm39) D1343G probably damaging Het
Denr T C 5: 124,046,250 (GRCm39) Y27H probably benign Het
Dop1a T C 9: 86,413,825 (GRCm39) probably null Het
Epg5 T C 18: 78,057,378 (GRCm39) F1819S probably damaging Het
Flg2 T A 3: 93,108,642 (GRCm39) Y223* probably null Het
Fry T C 5: 150,351,695 (GRCm39) L1733P probably benign Het
Gabrb2 T C 11: 42,488,440 (GRCm39) V302A probably damaging Het
Gje1 G T 10: 14,593,886 (GRCm39) L3I possibly damaging Het
Gm49383 G T 12: 69,239,586 (GRCm39) A645E probably damaging Het
Gm8947 G A 1: 151,068,347 (GRCm39) G60D probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gys2 A G 6: 142,405,106 (GRCm39) probably null Het
Hace1 A G 10: 45,494,598 (GRCm39) H136R probably damaging Het
Herc3 T G 6: 58,893,444 (GRCm39) V902G probably damaging Het
Hspbp1 T C 7: 4,687,606 (GRCm39) R2G probably benign Het
Iqch T A 9: 63,387,856 (GRCm39) K811N possibly damaging Het
Kmt2a A G 9: 44,753,962 (GRCm39) probably benign Het
Lonrf2 A T 1: 38,843,417 (GRCm39) V372D probably benign Het
Lpin2 T C 17: 71,551,786 (GRCm39) Y729H probably damaging Het
Lrrc32 A G 7: 98,148,471 (GRCm39) N417S possibly damaging Het
Malrd1 T A 2: 15,802,478 (GRCm39) C1064S unknown Het
Mast3 G A 8: 71,252,115 (GRCm39) R20* probably null Het
Mypn A C 10: 62,952,718 (GRCm39) I174S probably damaging Het
Nrg1 G A 8: 32,308,534 (GRCm39) T505M probably damaging Het
Or13p8 A G 4: 118,584,338 (GRCm39) K298R probably damaging Het
Or6y1 A G 1: 174,276,677 (GRCm39) I163V probably damaging Het
Or7a42 A G 10: 78,791,615 (GRCm39) D192G possibly damaging Het
Or7e178 A G 9: 20,225,395 (GRCm39) Y266H probably damaging Het
Phf3 T C 1: 30,850,958 (GRCm39) E1132G probably damaging Het
Pla2g4d A T 2: 120,101,114 (GRCm39) M521K probably damaging Het
Plekhg1 A G 10: 3,913,770 (GRCm39) H1164R possibly damaging Het
Plxnb2 A G 15: 89,044,592 (GRCm39) V1218A probably benign Het
Pold1 A G 7: 44,191,630 (GRCm39) S119P probably benign Het
Pole T A 5: 110,441,156 (GRCm39) D203E probably benign Het
Rapgefl1 T A 11: 98,737,947 (GRCm39) L387Q probably damaging Het
Rbm33 T C 5: 28,557,504 (GRCm39) I199T probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 C A 11: 50,289,207 (GRCm39) R545L probably benign Het
Ryr3 T A 2: 112,690,699 (GRCm39) D1117V probably damaging Het
Sap130 T C 18: 31,815,141 (GRCm39) V621A possibly damaging Het
Sparcl1 T A 5: 104,234,940 (GRCm39) Y525F probably damaging Het
Spon2 A G 5: 33,373,771 (GRCm39) V180A probably benign Het
Trav10n G A 14: 53,359,947 (GRCm39) V75M probably benign Het
Ttc34 T C 4: 154,923,543 (GRCm39) L84P probably damaging Het
Vmn1r23 C T 6: 57,903,130 (GRCm39) R216K probably benign Het
Vmn2r61 A G 7: 41,949,364 (GRCm39) T595A probably benign Het
Vmn2r66 T A 7: 84,661,216 (GRCm39) I5F possibly damaging Het
Zfp879 C T 11: 50,723,839 (GRCm39) G406R probably damaging Het
Zic2 A T 14: 122,713,869 (GRCm39) D261V probably damaging Het
Other mutations in Gimap9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Gimap9 APN 6 48,654,851 (GRCm39) critical splice donor site probably null
IGL01568:Gimap9 APN 6 48,654,550 (GRCm39) missense probably benign 0.07
R0442:Gimap9 UTSW 6 48,655,000 (GRCm39) nonsense probably null
R1354:Gimap9 UTSW 6 48,654,982 (GRCm39) missense probably benign 0.24
R2276:Gimap9 UTSW 6 48,654,812 (GRCm39) missense probably benign 0.00
R6190:Gimap9 UTSW 6 48,655,285 (GRCm39) missense probably damaging 1.00
R7116:Gimap9 UTSW 6 48,654,989 (GRCm39) missense probably benign 0.05
R8819:Gimap9 UTSW 6 48,654,821 (GRCm39) missense probably benign 0.09
R8820:Gimap9 UTSW 6 48,654,821 (GRCm39) missense probably benign 0.09
R9346:Gimap9 UTSW 6 48,654,492 (GRCm39) missense probably damaging 1.00
R9536:Gimap9 UTSW 6 48,654,416 (GRCm39) start codon destroyed probably null 1.00
R9559:Gimap9 UTSW 6 48,655,134 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AGTCAGCTTGCCTTGACATGG -3'
(R):5'- ATCATGTACTTCAGGGCTGC -3'

Sequencing Primer
(F):5'- TGGCCAGGGAGACACTG -3'
(R):5'- GGGCTGCCTCCCCAAAAAG -3'
Posted On 2018-11-06