Incidental Mutation 'IGL02510:Gm5096'
ID296499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5096
Ensembl Gene ENSMUSG00000069324
Gene Namepredicted gene 5096
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.230) question?
Stock #IGL02510
Quality Score
Status
Chromosome18
Chromosomal Location87756286-87758143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87757529 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 392 (Q392R)
Ref Sequence ENSEMBL: ENSMUSP00000135956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091776]
Predicted Effect probably benign
Transcript: ENSMUST00000091776
AA Change: Q392R

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135956
Gene: ENSMUSG00000069324
AA Change: Q392R

DomainStartEndE-ValueType
Pfam:S-methyl_trans 23 314 5e-50 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,251,390 S193N probably benign Het
Arrdc1 C A 2: 24,935,100 V16F probably damaging Het
Bsx A T 9: 40,874,221 Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 T253A probably benign Het
Cdkl3 T C 11: 52,011,270 L102P probably damaging Het
Cgnl1 G T 9: 71,725,357 N237K probably benign Het
Cldn14 T A 16: 93,919,956 M1L probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Col7a1 C A 9: 108,973,231 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhrs2 G A 14: 55,236,075 V64M probably damaging Het
Disp3 G A 4: 148,252,701 H886Y probably benign Het
Dst G A 1: 34,229,251 probably null Het
Fnbp4 T C 2: 90,751,475 V215A probably benign Het
Fzd9 A G 5: 135,249,615 L472P probably damaging Het
Hpd C T 5: 123,181,910 R15Q possibly damaging Het
Htra2 A G 6: 83,051,611 V412A probably damaging Het
Ift80 A G 3: 68,898,543 F722S probably benign Het
Kcnq2 T C 2: 181,081,361 T741A probably benign Het
Kl A C 5: 150,989,001 E738D probably damaging Het
Klra4 T A 6: 130,059,543 I178L probably damaging Het
Klra9 T C 6: 130,191,222 E27G probably benign Het
Kntc1 T C 5: 123,819,062 Y2145H probably benign Het
Mbd5 T A 2: 49,257,029 M417K probably benign Het
Med31 C T 11: 72,212,056 M75I probably benign Het
Mpeg1 A T 19: 12,461,424 D82V probably damaging Het
Msto1 A G 3: 88,910,345 Y439H probably damaging Het
Olfr23 G A 11: 73,941,005 G253E probably damaging Het
Olfr332 T C 11: 58,490,539 Y72C probably damaging Het
Olfr344 T C 2: 36,568,681 S28P possibly damaging Het
Olfr488 T A 7: 108,256,141 probably benign Het
Prtg G A 9: 72,890,869 V706M probably damaging Het
Sfxn2 G T 19: 46,588,272 A186S probably benign Het
Slc12a5 A T 2: 164,982,808 probably benign Het
Slc7a3 T C X: 101,082,833 E222G probably benign Het
Stox1 A T 10: 62,664,047 H911Q probably benign Het
Sult3a2 A T 10: 33,766,439 N289K probably benign Het
Supt20 A G 3: 54,715,524 probably benign Het
Tchh A G 3: 93,444,078 E275G unknown Het
Tectb A T 19: 55,191,511 N263I probably damaging Het
Tsga10 C T 1: 37,760,985 R608Q possibly damaging Het
Ttyh3 A G 5: 140,629,464 Y390H probably damaging Het
Utf1 C A 7: 139,944,016 S48* probably null Het
Zfp358 G A 8: 3,496,786 G456D probably benign Het
Zufsp A G 10: 33,930,154 probably null Het
Other mutations in Gm5096
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Gm5096 APN 18 87756656 missense possibly damaging 0.58
R1222:Gm5096 UTSW 18 87757334 missense probably damaging 1.00
R1418:Gm5096 UTSW 18 87757334 missense probably damaging 1.00
R1465:Gm5096 UTSW 18 87757258 missense probably damaging 1.00
R1465:Gm5096 UTSW 18 87757258 missense probably damaging 1.00
R1883:Gm5096 UTSW 18 87756545 missense probably damaging 1.00
R4631:Gm5096 UTSW 18 87756401 missense probably damaging 0.98
R4799:Gm5096 UTSW 18 87756449 missense probably damaging 1.00
R5569:Gm5096 UTSW 18 87757268 missense probably damaging 1.00
R6011:Gm5096 UTSW 18 87756539 missense probably damaging 1.00
R6156:Gm5096 UTSW 18 87757107 nonsense probably null
R6160:Gm5096 UTSW 18 87757121 missense probably damaging 1.00
R6209:Gm5096 UTSW 18 87757217 missense probably damaging 1.00
R6568:Gm5096 UTSW 18 87757442 missense probably benign
R6958:Gm5096 UTSW 18 87756922 missense probably benign
R7226:Gm5096 UTSW 18 87757466 missense possibly damaging 0.93
Posted On2015-04-16