Incidental Mutation 'IGL03213:Gm9047'
ID413370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm9047
Ensembl Gene ENSMUSG00000090685
Gene Namepredicted gene 9047
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL03213
Quality Score
Status
Chromosome6
Chromosomal Location29471437-29473465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 29471793 bp
ZygosityHeterozygous
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

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

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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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