Incidental Mutation 'IGL02298:Gm8890'
ID290222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8890
Ensembl Gene ENSMUSG00000096846
Gene Namepredicted gene 8890
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02298
Quality Score
Status
Chromosome5
Chromosomal Location11256033-11260494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 11257191 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 12 (L12R)
Ref Sequence ENSEMBL: ENSMUSP00000136387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177727]
Predicted Effect unknown
Transcript: ENSMUST00000164262
AA Change: L14R
SMART Domains Protein: ENSMUSP00000127049
Gene: ENSMUSG00000096846
AA Change: L14R

DomainStartEndE-ValueType
Pfam:Takusan 6 92 4.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177727
AA Change: L12R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136387
Gene: ENSMUSG00000096846
AA Change: L12R

DomainStartEndE-ValueType
Pfam:Takusan 2 90 4.2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197751
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik T A 6: 129,331,564 M1L probably benign Het
Ahctf1 A G 1: 179,752,479 S2053P probably benign Het
Alkbh2 C T 5: 114,125,572 E125K probably benign Het
Cd226 A T 18: 89,207,051 D24V probably damaging Het
Dync1h1 G A 12: 110,640,888 E2638K probably damaging Het
Fbxw5 G A 2: 25,504,444 W143* probably null Het
Galk2 T C 2: 125,859,370 S5P probably benign Het
Gtf2h2 A G 13: 100,481,039 V205A probably damaging Het
Helb C A 10: 120,101,526 Q604H probably damaging Het
Ifih1 A G 2: 62,610,439 probably null Het
Map7d1 T C 4: 126,233,921 E675G unknown Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Shc4 T C 2: 125,649,154 H488R probably damaging Het
Zfhx4 G A 3: 5,244,304 probably null Het
Zfp451 A T 1: 33,772,921 N904K probably damaging Het
Other mutations in Gm8890
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6214:Gm8890 UTSW 5 11257230 missense probably damaging 0.99
R6215:Gm8890 UTSW 5 11257230 missense probably damaging 0.99
R6511:Gm8890 UTSW 5 11257308 missense probably benign 0.09
Posted On2015-04-16