Incidental Mutation 'IGL02703:AI593442'
ID304193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI593442
Ensembl Gene ENSMUSG00000078307
Gene Nameexpressed sequence AI593442
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02703
Quality Score
Status
Chromosome9
Chromosomal Location52673042-52679780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 52678118 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 53 (L53R)
Ref Sequence ENSEMBL: ENSMUSP00000149532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098768] [ENSMUST00000213843] [ENSMUST00000213937]
Predicted Effect probably damaging
Transcript: ENSMUST00000098768
AA Change: L53R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096365
Gene: ENSMUSG00000078307
AA Change: L53R

DomainStartEndE-ValueType
low complexity region 23 43 N/A INTRINSIC
transmembrane domain 61 83 N/A INTRINSIC
low complexity region 85 95 N/A INTRINSIC
low complexity region 156 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213681
Predicted Effect probably benign
Transcript: ENSMUST00000213843
Predicted Effect probably damaging
Transcript: ENSMUST00000213937
AA Change: L53R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,064,241 Q60L probably damaging Het
Bmp2 T G 2: 133,561,404 S292A probably benign Het
Cd37 T C 7: 45,235,525 D186G probably benign Het
Cenpf T C 1: 189,659,758 I626V probably benign Het
Faim T A 9: 98,992,201 S49T probably benign Het
Glrb T G 3: 80,850,993 E371A probably benign Het
Kcne2 T C 16: 92,296,950 S122P possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Olfr1047 T A 2: 86,228,979 probably benign Het
Olfr1420 A G 19: 11,896,242 T74A possibly damaging Het
Olfr453 T G 6: 42,744,076 I13S possibly damaging Het
Pex1 C A 5: 3,615,120 H573Q probably benign Het
Plxna1 A G 6: 89,356,943 S235P probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc41a2 T C 10: 83,254,847 K491R probably damaging Het
Sugct T G 13: 17,452,540 T243P possibly damaging Het
Tnfaip3 G T 10: 19,007,032 D212E probably damaging Het
Trim68 A G 7: 102,684,079 V132A probably damaging Het
Other mutations in AI593442
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1370:AI593442 UTSW 9 52678008 missense probably damaging 1.00
R1977:AI593442 UTSW 9 52678192 missense probably damaging 0.99
R2118:AI593442 UTSW 9 52677693 missense probably benign 0.00
R2248:AI593442 UTSW 9 52677814 small deletion probably benign
R4154:AI593442 UTSW 9 52677904 missense probably benign
R5081:AI593442 UTSW 9 52677814 small deletion probably benign
X0002:AI593442 UTSW 9 52677814 small deletion probably benign
Z1176:AI593442 UTSW 9 52677945 missense probably damaging 1.00
Z1177:AI593442 UTSW 9 52677912 missense possibly damaging 0.58
Posted On2015-04-16