Incidental Mutation 'IGL02064:Gm8298'
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ID185570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8298
Ensembl Gene ENSMUSG00000095522
Gene Namepredicted gene 8298
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL02064
Quality Score
Status
Chromosome3
Chromosomal Location59861051-59877313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59877042 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 312 (L312P)
Ref Sequence ENSEMBL: ENSMUSP00000137307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179799]
Predicted Effect probably damaging
Transcript: ENSMUST00000179799
AA Change: L312P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: L312P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:COesterase 91 217 9.6e-7 PFAM
Pfam:Abhydrolase_3 107 279 1.1e-36 PFAM
Pfam:Abhydrolase_3 284 375 1.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194941
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik T C 15: 101,562,653 H58R possibly damaging Het
Acap2 A C 16: 31,127,328 W284G probably damaging Het
Acsf3 T C 8: 122,780,247 L93P possibly damaging Het
Agbl2 G T 2: 90,784,024 probably benign Het
Arap3 C T 18: 37,991,701 G242D probably damaging Het
Asxl3 G A 18: 22,524,344 V1804I possibly damaging Het
BC025446 A G 15: 75,221,656 probably benign Het
Bnc1 C A 7: 81,973,503 V659L probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Car9 A G 4: 43,507,363 E103G probably benign Het
Chrm4 A G 2: 91,927,831 T195A probably damaging Het
Cldn10 T C 14: 118,855,012 I8T probably damaging Het
Col12a1 G A 9: 79,692,372 S833F probably benign Het
Cryba2 T A 1: 74,890,561 D139V possibly damaging Het
Emp1 T A 6: 135,377,212 M1K probably null Het
Exosc4 C A 15: 76,329,636 A220E probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fryl A G 5: 73,124,769 probably benign Het
Grid2 C T 6: 64,063,935 T287I probably benign Het
Grifin C T 5: 140,564,739 A7T probably damaging Het
Gzmg T C 14: 56,157,341 K157E probably benign Het
Kcnq2 A T 2: 181,109,026 I340N probably damaging Het
Klrb1 T A 6: 128,710,637 H98L probably benign Het
Krtap5-2 C A 7: 142,175,731 G71C unknown Het
Krtap7-1 A T 16: 89,508,123 M47K probably benign Het
Lmntd1 T A 6: 145,427,276 probably null Het
Musk A G 4: 58,286,128 N6S possibly damaging Het
Olfr169 A G 16: 19,566,548 C112R probably damaging Het
Olfr33 A G 7: 102,713,601 F271L probably damaging Het
Olfr482 T G 7: 108,095,247 T108P probably benign Het
Olfr682-ps1 A T 7: 105,127,034 F89Y possibly damaging Het
Olfr893 T A 9: 38,209,578 I122N probably damaging Het
Pcdh19 A G X: 133,685,970 M432T probably benign Het
Prdm1 A G 10: 44,441,342 F495S probably damaging Het
Prkar2a T C 9: 108,733,204 Y211H possibly damaging Het
Ralgapa1 C A 12: 55,708,077 G1143V probably damaging Het
Rbbp7 A G X: 162,769,787 probably null Het
Scel C A 14: 103,533,326 H65Q probably damaging Het
Sec24d T C 3: 123,343,814 probably benign Het
Sfswap C A 5: 129,560,796 T839N probably benign Het
Slc15a1 T C 14: 121,462,499 I636V possibly damaging Het
Slc15a1 G T 14: 121,462,474 P644H probably benign Het
Slc6a21 T A 7: 45,286,459 I38N possibly damaging Het
Sucla2 C T 14: 73,579,473 Q218* probably null Het
Tbc1d14 A T 5: 36,507,675 L237* probably null Het
Trpm7 C T 2: 126,797,943 E1578K probably damaging Het
Ttc17 G A 2: 94,330,667 T896I probably damaging Het
Virma A G 4: 11,513,163 D339G possibly damaging Het
Vmn2r54 T A 7: 12,615,606 Y683F probably benign Het
Xrra1 T A 7: 99,914,204 L466Q probably damaging Het
Other mutations in Gm8298
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Gm8298 APN 3 59868900 missense possibly damaging 0.80
IGL02317:Gm8298 APN 3 59876987 missense probably benign 0.00
R0270:Gm8298 UTSW 3 59877019 missense probably benign
R0580:Gm8298 UTSW 3 59877049 missense probably damaging 1.00
R1124:Gm8298 UTSW 3 59865218 missense probably benign 0.39
R1208:Gm8298 UTSW 3 59865294 missense probably benign 0.27
R1222:Gm8298 UTSW 3 59877261 nonsense probably null
R1436:Gm8298 UTSW 3 59865339 missense probably damaging 0.98
R1529:Gm8298 UTSW 3 59861112 missense probably benign
R1806:Gm8298 UTSW 3 59877150 missense probably damaging 1.00
R2130:Gm8298 UTSW 3 59865348 missense probably damaging 1.00
R4209:Gm8298 UTSW 3 59877156 missense probably damaging 1.00
R4597:Gm8298 UTSW 3 59876793 missense possibly damaging 0.47
R4910:Gm8298 UTSW 3 59869014 critical splice donor site probably null
R5571:Gm8298 UTSW 3 59877219 missense probably damaging 1.00
R6131:Gm8298 UTSW 3 59868903 missense possibly damaging 0.76
R6447:Gm8298 UTSW 3 59865398 missense probably damaging 0.99
R6481:Gm8298 UTSW 3 59861057 missense probably benign 0.00
R6795:Gm8298 UTSW 3 59868936 missense probably damaging 1.00
R7092:Gm8298 UTSW 3 59861079 missense probably benign 0.41
R7334:Gm8298 UTSW 3 59868959 missense probably damaging 1.00
R7602:Gm8298 UTSW 3 59877276 missense probably benign 0.17
R7660:Gm8298 UTSW 3 59865268 missense probably benign 0.05
R7705:Gm8298 UTSW 3 59876747 missense probably benign 0.25
R7708:Gm8298 UTSW 3 59865335 missense probably benign 0.00
R7981:Gm8298 UTSW 3 59876939 missense probably damaging 1.00
R8167:Gm8298 UTSW 3 59877211 missense probably benign 0.03
X0011:Gm8298 UTSW 3 59861177 missense probably benign
X0022:Gm8298 UTSW 3 59877024 missense probably benign 0.01
Posted On2014-05-07