Incidental Mutation 'IGL02703:AI593442'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI593442
Ensembl Gene ENSMUSG00000078307
Gene Nameexpressed sequence AI593442
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02703
Quality Score
Chromosomal Location52673042-52679780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 52678118 bp
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

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