Incidental Mutation 'IGL02635:AW209491'
ID301479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AW209491
Ensembl Gene ENSMUSG00000039182
Gene Nameexpressed sequence AW209491
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.285) question?
Stock #IGL02635
Quality Score
Status
Chromosome13
Chromosomal Location14630154-14639096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14637267 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 235 (A235V)
Ref Sequence ENSEMBL: ENSMUSP00000136376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038690] [ENSMUST00000178289] [ENSMUST00000221168] [ENSMUST00000222052]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038690
AA Change: A235V

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041523
Gene: ENSMUSG00000039182
AA Change: A235V

DomainStartEndE-ValueType
Pfam:DUF1308 38 401 2.2e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178289
AA Change: A235V

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136376
Gene: ENSMUSG00000039182
AA Change: A235V

DomainStartEndE-ValueType
Pfam:DUF1308 37 401 1.1e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221168
Predicted Effect probably benign
Transcript: ENSMUST00000222052
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A C 12: 112,415,152 noncoding transcript Het
Abcc12 C T 8: 86,509,682 probably benign Het
Akap9 T C 5: 4,070,500 S3639P possibly damaging Het
Ankar C T 1: 72,652,431 V1124I possibly damaging Het
Cask A T X: 13,714,770 D58E probably damaging Het
Cdhr4 T A 9: 107,992,871 M25K probably benign Het
Clasp2 A G 9: 113,908,842 I1096V probably damaging Het
Fam234a T A 17: 26,214,453 I410F possibly damaging Het
Gbe1 T C 16: 70,569,014 L693P probably damaging Het
Golgb1 G T 16: 36,915,013 V1541L probably benign Het
Gpr143 G A X: 152,808,261 E382K probably damaging Het
Gpr171 C T 3: 59,097,596 V253I probably benign Het
Gsap T A 5: 21,289,816 W10R probably damaging Het
Hsd17b12 T A 2: 94,083,211 D116V possibly damaging Het
Ifih1 A T 2: 62,611,829 L348Q probably damaging Het
Ighv1-50 G A 12: 115,119,995 A35V probably benign Het
Lrcol1 A C 5: 110,354,593 M112L probably benign Het
Lrrc59 T A 11: 94,643,456 V280E probably damaging Het
Med17 A T 9: 15,274,549 I223K probably damaging Het
Olfr1508 T C 14: 52,463,794 I72V probably damaging Het
Oog3 T C 4: 144,158,145 N407S probably damaging Het
Pear1 T C 3: 87,750,146 *1035W probably null Het
Pkd1 T A 17: 24,572,811 F1157L probably damaging Het
Pkp4 T C 2: 59,305,498 probably benign Het
Ppl T C 16: 5,089,767 E888G probably benign Het
Prh1 G A 6: 132,572,283 G251E unknown Het
Prkar2a A G 9: 108,728,277 E178G probably damaging Het
Rfx6 A T 10: 51,716,026 T352S possibly damaging Het
S1pr1 T C 3: 115,712,090 K285R probably benign Het
Slc12a1 A G 2: 125,225,978 H995R probably benign Het
Slc25a54 T A 3: 109,112,817 N382K possibly damaging Het
Snrnp48 T G 13: 38,209,869 probably benign Het
Spg11 T C 2: 122,113,068 D201G possibly damaging Het
Stox1 T C 10: 62,664,906 D625G probably benign Het
Supt6 T C 11: 78,212,739 H1380R probably damaging Het
Tcp1 T A 17: 12,923,409 M430K probably benign Het
Tlr12 A T 4: 128,616,816 V547E probably damaging Het
Tmem255b G T 8: 13,455,195 D167Y probably damaging Het
Trpc7 T C 13: 56,776,168 R735G probably damaging Het
Trpm1 A G 7: 64,199,224 T73A probably benign Het
Ubr3 A T 2: 70,020,483 L1748F probably damaging Het
Xirp2 T C 2: 67,507,910 I165T possibly damaging Het
Ybx1 T C 4: 119,279,089 N282S possibly damaging Het
Zdhhc12 T A 2: 30,093,519 I24F probably damaging Het
Other mutations in AW209491
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:AW209491 APN 13 14637075 missense probably damaging 0.98
IGL02634:AW209491 APN 13 14637683 missense probably damaging 0.99
IGL03401:AW209491 APN 13 14637456 missense probably benign
R0067:AW209491 UTSW 13 14637743 missense probably benign 0.24
R0067:AW209491 UTSW 13 14637743 missense probably benign 0.24
R0536:AW209491 UTSW 13 14636973 missense probably damaging 1.00
R0539:AW209491 UTSW 13 14637732 missense probably damaging 1.00
R0845:AW209491 UTSW 13 14637022 missense probably damaging 1.00
R1851:AW209491 UTSW 13 14636733 missense possibly damaging 0.73
R4110:AW209491 UTSW 13 14637573 missense probably damaging 1.00
R4379:AW209491 UTSW 13 14637827 makesense probably null
R5153:AW209491 UTSW 13 14637179 missense probably benign
R5987:AW209491 UTSW 13 14637780 missense probably benign 0.00
R5988:AW209491 UTSW 13 14637780 missense probably benign 0.00
R5990:AW209491 UTSW 13 14637780 missense probably benign 0.00
R6019:AW209491 UTSW 13 14637780 missense probably benign 0.00
R6021:AW209491 UTSW 13 14637780 missense probably benign 0.00
R6022:AW209491 UTSW 13 14637780 missense probably benign 0.00
R6160:AW209491 UTSW 13 14636721 missense probably damaging 0.99
R6179:AW209491 UTSW 13 14637083 missense possibly damaging 0.92
R6194:AW209491 UTSW 13 14637120 missense possibly damaging 0.89
R7594:AW209491 UTSW 13 14637246 missense probably benign
Posted On2015-04-16