Incidental Mutation 'IGL01962:AI429214'
ID 182443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI429214
Ensembl Gene ENSMUSG00000074384
Gene Name expressed sequence AI429214
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01962
Quality Score
Status
Chromosome 8
Chromosomal Location 37460758-37462687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37461383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 177 (I177N)
Ref Sequence ENSEMBL: ENSMUSP00000096424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098825]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098825
AA Change: I177N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384
AA Change: I177N

DomainStartEndE-ValueType
low complexity region 72 86 N/A INTRINSIC
Pfam:DUF4606 175 277 3.7e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209814
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,324,514 (GRCm39) F253S probably benign Het
Astn1 C A 1: 158,496,201 (GRCm39) T1077K probably damaging Het
Asxl3 A T 18: 22,655,502 (GRCm39) I1171L probably benign Het
Cdca2 A T 14: 67,943,172 (GRCm39) S206T probably damaging Het
Chd3 T C 11: 69,248,319 (GRCm39) M858V possibly damaging Het
Cyp2j12 C T 4: 95,987,999 (GRCm39) A464T probably benign Het
Fryl A T 5: 73,190,134 (GRCm39) D2787E possibly damaging Het
Hmx3 G A 7: 131,146,000 (GRCm39) R236H probably damaging Het
Il1rap T A 16: 26,529,318 (GRCm39) C330* probably null Het
Klrc1 A T 6: 129,655,865 (GRCm39) N3K probably damaging Het
Nars1 A G 18: 64,643,554 (GRCm39) F142L probably benign Het
Nipal1 A G 5: 72,825,401 (GRCm39) S365G possibly damaging Het
Or1n1 T A 2: 36,749,787 (GRCm39) H191L probably benign Het
Or2ag15 G A 7: 106,340,991 (GRCm39) T50I probably benign Het
Or51s1 T G 7: 102,559,054 (GRCm39) probably benign Het
Or8k17 C A 2: 86,066,456 (GRCm39) R234M probably damaging Het
Pcdhb4 A G 18: 37,442,057 (GRCm39) T456A possibly damaging Het
Pcdhb5 G A 18: 37,454,093 (GRCm39) D158N probably damaging Het
Pcsk2 C T 2: 143,655,552 (GRCm39) Q579* probably null Het
Phactr4 G A 4: 132,091,086 (GRCm39) R577W probably damaging Het
Rbms3 T C 9: 116,524,879 (GRCm39) probably benign Het
Rxfp1 T G 3: 79,594,175 (GRCm39) D73A probably damaging Het
Scmh1 A T 4: 120,340,781 (GRCm39) probably benign Het
Syk T G 13: 52,764,993 (GRCm39) L40R probably damaging Het
Tcn2 T C 11: 3,875,072 (GRCm39) N153S probably benign Het
Tnks A G 8: 35,336,678 (GRCm39) L502P probably damaging Het
Vmn2r111 A G 17: 22,767,265 (GRCm39) V744A possibly damaging Het
Other mutations in AI429214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02508:AI429214 APN 8 37,461,240 (GRCm39) missense probably benign
R0973:AI429214 UTSW 8 37,461,473 (GRCm39) missense probably benign 0.29
R0973:AI429214 UTSW 8 37,461,473 (GRCm39) missense probably benign 0.29
R0974:AI429214 UTSW 8 37,461,473 (GRCm39) missense probably benign 0.29
R2007:AI429214 UTSW 8 37,460,923 (GRCm39) missense probably benign 0.29
R2113:AI429214 UTSW 8 37,461,154 (GRCm39) nonsense probably null
R2126:AI429214 UTSW 8 37,461,362 (GRCm39) missense probably benign 0.00
R2254:AI429214 UTSW 8 37,460,920 (GRCm39) missense possibly damaging 0.91
R3409:AI429214 UTSW 8 37,461,071 (GRCm39) missense probably benign 0.00
R3411:AI429214 UTSW 8 37,461,071 (GRCm39) missense probably benign 0.00
R3852:AI429214 UTSW 8 37,461,596 (GRCm39) missense probably damaging 1.00
R4657:AI429214 UTSW 8 37,461,545 (GRCm39) missense probably damaging 1.00
R5766:AI429214 UTSW 8 37,461,383 (GRCm39) frame shift probably null
R5767:AI429214 UTSW 8 37,461,383 (GRCm39) frame shift probably null
R6248:AI429214 UTSW 8 37,461,278 (GRCm39) missense probably damaging 1.00
R6888:AI429214 UTSW 8 37,460,987 (GRCm39) missense possibly damaging 0.85
R8018:AI429214 UTSW 8 37,460,820 (GRCm39) start gained probably benign
R8817:AI429214 UTSW 8 37,461,268 (GRCm39) missense probably benign 0.05
R8985:AI429214 UTSW 8 37,460,820 (GRCm39) start gained probably benign
R9564:AI429214 UTSW 8 37,461,067 (GRCm39) missense possibly damaging 0.92
Posted On 2014-05-07