Incidental Mutation 'IGL02635:AW209491'
ID 301479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AW209491
Ensembl Gene ENSMUSG00000039182
Gene Name expressed sequence AW209491
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # IGL02635
Quality Score
Status
Chromosome 13
Chromosomal Location 14804830-14812787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14811852 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 112,381,586 (GRCm39) noncoding transcript Het
Abcc12 C T 8: 87,236,311 (GRCm39) probably benign Het
Akap9 T C 5: 4,120,500 (GRCm39) S3639P possibly damaging Het
Ankar C T 1: 72,691,590 (GRCm39) V1124I possibly damaging Het
Cask A T X: 13,581,009 (GRCm39) D58E probably damaging Het
Cdhr4 T A 9: 107,870,070 (GRCm39) M25K probably benign Het
Clasp2 A G 9: 113,737,910 (GRCm39) I1096V probably damaging Het
Fam234a T A 17: 26,433,427 (GRCm39) I410F possibly damaging Het
Gbe1 T C 16: 70,365,902 (GRCm39) L693P probably damaging Het
Golgb1 G T 16: 36,735,375 (GRCm39) V1541L probably benign Het
Gpr143 G A X: 151,591,257 (GRCm39) E382K probably damaging Het
Gpr171 C T 3: 59,005,017 (GRCm39) V253I probably benign Het
Gsap T A 5: 21,494,814 (GRCm39) W10R probably damaging Het
Hsd17b12 T A 2: 93,913,556 (GRCm39) D116V possibly damaging Het
Ifih1 A T 2: 62,442,173 (GRCm39) L348Q probably damaging Het
Ighv1-50 G A 12: 115,083,615 (GRCm39) A35V probably benign Het
Lrcol1 A C 5: 110,502,459 (GRCm39) M112L probably benign Het
Lrrc59 T A 11: 94,534,282 (GRCm39) V280E probably damaging Het
Med17 A T 9: 15,185,845 (GRCm39) I223K probably damaging Het
Oog3 T C 4: 143,884,715 (GRCm39) N407S probably damaging Het
Or4e1 T C 14: 52,701,251 (GRCm39) I72V probably damaging Het
Pear1 T C 3: 87,657,453 (GRCm39) *1035W probably null Het
Pkd1 T A 17: 24,791,785 (GRCm39) F1157L probably damaging Het
Pkp4 T C 2: 59,135,842 (GRCm39) probably benign Het
Ppl T C 16: 4,907,631 (GRCm39) E888G probably benign Het
Prh1 G A 6: 132,549,246 (GRCm39) G251E unknown Het
Prkar2a A G 9: 108,605,476 (GRCm39) E178G probably damaging Het
Rfx6 A T 10: 51,592,122 (GRCm39) T352S possibly damaging Het
S1pr1 T C 3: 115,505,739 (GRCm39) K285R probably benign Het
Slc12a1 A G 2: 125,067,898 (GRCm39) H995R probably benign Het
Slc25a54 T A 3: 109,020,133 (GRCm39) N382K possibly damaging Het
Snrnp48 T G 13: 38,393,845 (GRCm39) probably benign Het
Spg11 T C 2: 121,943,549 (GRCm39) D201G possibly damaging Het
Stox1 T C 10: 62,500,685 (GRCm39) D625G probably benign Het
Supt6 T C 11: 78,103,565 (GRCm39) H1380R probably damaging Het
Tcp1 T A 17: 13,142,296 (GRCm39) M430K probably benign Het
Tlr12 A T 4: 128,510,609 (GRCm39) V547E probably damaging Het
Tmem255b G T 8: 13,505,195 (GRCm39) D167Y probably damaging Het
Trpc7 T C 13: 56,923,981 (GRCm39) R735G probably damaging Het
Trpm1 A G 7: 63,848,972 (GRCm39) T73A probably benign Het
Ubr3 A T 2: 69,850,827 (GRCm39) L1748F probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Ybx1 T C 4: 119,136,286 (GRCm39) N282S possibly damaging Het
Zdhhc12 T A 2: 29,983,531 (GRCm39) I24F probably damaging Het
Other mutations in AW209491
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:AW209491 APN 13 14,811,660 (GRCm39) missense probably damaging 0.98
IGL02634:AW209491 APN 13 14,812,268 (GRCm39) missense probably damaging 0.99
IGL03401:AW209491 APN 13 14,812,041 (GRCm39) missense probably benign
R0067:AW209491 UTSW 13 14,812,328 (GRCm39) missense probably benign 0.24
R0067:AW209491 UTSW 13 14,812,328 (GRCm39) missense probably benign 0.24
R0536:AW209491 UTSW 13 14,811,558 (GRCm39) missense probably damaging 1.00
R0539:AW209491 UTSW 13 14,812,317 (GRCm39) missense probably damaging 1.00
R0845:AW209491 UTSW 13 14,811,607 (GRCm39) missense probably damaging 1.00
R1851:AW209491 UTSW 13 14,811,318 (GRCm39) missense possibly damaging 0.73
R4110:AW209491 UTSW 13 14,812,158 (GRCm39) missense probably damaging 1.00
R4379:AW209491 UTSW 13 14,812,412 (GRCm39) makesense probably null
R5153:AW209491 UTSW 13 14,811,764 (GRCm39) missense probably benign
R5987:AW209491 UTSW 13 14,812,365 (GRCm39) missense probably benign 0.00
R5988:AW209491 UTSW 13 14,812,365 (GRCm39) missense probably benign 0.00
R5990:AW209491 UTSW 13 14,812,365 (GRCm39) missense probably benign 0.00
R6019:AW209491 UTSW 13 14,812,365 (GRCm39) missense probably benign 0.00
R6021:AW209491 UTSW 13 14,812,365 (GRCm39) missense probably benign 0.00
R6022:AW209491 UTSW 13 14,812,365 (GRCm39) missense probably benign 0.00
R6160:AW209491 UTSW 13 14,811,306 (GRCm39) missense probably damaging 0.99
R6179:AW209491 UTSW 13 14,811,668 (GRCm39) missense possibly damaging 0.92
R6194:AW209491 UTSW 13 14,811,705 (GRCm39) missense possibly damaging 0.89
R7594:AW209491 UTSW 13 14,811,831 (GRCm39) missense probably benign
R7947:AW209491 UTSW 13 14,811,447 (GRCm39) missense probably benign
R8316:AW209491 UTSW 13 14,812,349 (GRCm39) missense probably damaging 0.99
R8425:AW209491 UTSW 13 14,811,921 (GRCm39) missense probably damaging 1.00
R9016:AW209491 UTSW 13 14,812,193 (GRCm39) missense probably damaging 0.98
R9635:AW209491 UTSW 13 14,811,957 (GRCm39) missense probably benign
Posted On 2015-04-16