Incidental Mutation 'IGL03213:Gm9047'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm9047
Ensembl Gene ENSMUSG00000090685
Gene Namepredicted gene 9047
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL03213
Quality Score
Chromosomal Location29471437-29473465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 29471793 bp
Amino Acid Change Methionine to Isoleucine at position 89 (M89I)
Ref Sequence ENSEMBL: ENSMUSP00000127891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004396] [ENSMUST00000149646] [ENSMUST00000171317]
Predicted Effect probably benign
Transcript: ENSMUST00000004396
SMART Domains Protein: ENSMUSP00000004396
Gene: ENSMUSG00000004285

Pfam:ATP-synt_F 8 109 2.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143101
SMART Domains Protein: ENSMUSP00000116986
Gene: ENSMUSG00000004285

Pfam:ATP-synt_F 31 90 6.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149646
SMART Domains Protein: ENSMUSP00000145062
Gene: ENSMUSG00000004285

Pfam:ATP-synt_F 3 61 7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159482
Predicted Effect probably damaging
Transcript: ENSMUST00000171317
AA Change: M89I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127891
Gene: ENSMUSG00000090685
AA Change: M89I

low complexity region 58 83 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,941,959 D447E probably damaging Het
Aldh8a1 T C 10: 21,384,717 V175A probably damaging Het
Arap2 T A 5: 62,749,095 T194S probably benign Het
Arih2 T C 9: 108,607,347 T422A probably damaging Het
Arl5b T A 2: 15,069,865 N52K probably damaging Het
Atg13 G A 2: 91,685,167 H227Y probably damaging Het
Ccdc178 T C 18: 22,120,691 T164A possibly damaging Het
Cep192 T C 18: 67,865,637 V2074A probably damaging Het
Ces2c T C 8: 104,848,040 I43T probably benign Het
Chrm3 G A 13: 9,878,184 T272I probably benign Het
Cln8 A G 8: 14,894,845 Y53C probably damaging Het
Cwc27 T A 13: 104,796,403 probably benign Het
Cyp3a13 A T 5: 137,894,267 probably benign Het
Dchs1 G T 7: 105,755,072 N2754K probably damaging Het
Dclk1 A T 3: 55,480,384 K84* probably null Het
Ednra T C 8: 77,720,219 T77A probably benign Het
Epn2 T C 11: 61,519,684 N553D probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm10784 T A 13: 49,945,274 noncoding transcript Het
Gm11492 G T 11: 87,567,358 probably null Het
Gtf2e2 T C 8: 33,752,497 F76L probably damaging Het
Hnrnpll A T 17: 80,034,098 V504E probably damaging Het
Ifitm2 A G 7: 140,955,764 V51A possibly damaging Het
Il16 C T 7: 83,646,500 E456K probably damaging Het
Lmod2 A T 6: 24,603,616 I197F possibly damaging Het
Lrrc14 T C 15: 76,713,783 S238P possibly damaging Het
Map3k1 A G 13: 111,748,892 probably benign Het
Phf11d C A 14: 59,349,348 R210S probably benign Het
Pigu T C 2: 155,335,371 N103S probably damaging Het
Rgsl1 A G 1: 153,825,841 V289A probably benign Het
Rp1l1 T A 14: 64,028,415 S483R probably damaging Het
Ryr2 A T 13: 11,724,387 probably benign Het
Sema3c T G 5: 17,694,639 probably benign Het
Sfmbt2 A G 2: 10,404,574 Y110C probably damaging Het
Slc12a3 T C 8: 94,335,305 V328A possibly damaging Het
Smarca2 G A 19: 26,623,975 G31D probably damaging Het
Svs1 A G 6: 48,988,345 D429G possibly damaging Het
Tenm2 T G 11: 36,023,330 E2460A probably benign Het
Trim58 T A 11: 58,651,167 W318R probably benign Het
Ube3a C T 7: 59,286,122 Q585* probably null Het
Vmn2r17 T C 5: 109,434,390 probably null Het
Zfp647 A G 15: 76,911,977 V161A possibly damaging Het
Other mutations in Gm9047
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02958:Gm9047 APN 6 29471626 missense probably damaging 1.00
R0511:Gm9047 UTSW 6 29478170 unclassified probably benign
R2404:Gm9047 UTSW 6 29473391 missense probably benign 0.02
R5943:Gm9047 UTSW 6 29471909 missense possibly damaging 0.85
R6530:Gm9047 UTSW 6 29471951 critical splice donor site probably null
Posted On2016-08-02