Incidental Mutation 'IGL03334:A430078G23Rik'
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ID416976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A430078G23Rik
Ensembl Gene ENSMUSG00000074497
Gene NameRIKEN cDNA A430078G23 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03334
Quality Score
Status
Chromosome8
Chromosomal Location3353415-3390299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3388023 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 286 (I286F)
Ref Sequence ENSEMBL: ENSMUSP00000096566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098966] [ENSMUST00000208363]
Predicted Effect probably benign
Transcript: ENSMUST00000098966
AA Change: I286F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000096566
Gene: ENSMUSG00000074497
AA Change: I286F

DomainStartEndE-ValueType
low complexity region 116 134 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131773
Predicted Effect probably benign
Transcript: ENSMUST00000208363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208845
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 F762L probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
Asb6 T C 2: 30,824,484 T205A probably benign Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 probably null Het
Fnbp1l A G 3: 122,557,949 V315A probably benign Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 S93P probably benign Het
Il27ra A G 8: 84,031,122 V594A probably benign Het
Krr1 T G 10: 111,980,054 S275R probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Prss48 T C 3: 85,997,318 E191G probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in A430078G23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:A430078G23Rik APN 8 3381942 missense possibly damaging 0.62
IGL01743:A430078G23Rik APN 8 3364697 missense probably benign 0.01
R0417:A430078G23Rik UTSW 8 3388957 utr 3 prime probably benign
R0646:A430078G23Rik UTSW 8 3386959 missense probably damaging 0.99
R0759:A430078G23Rik UTSW 8 3388822 utr 3 prime probably benign
R0880:A430078G23Rik UTSW 8 3389032 utr 3 prime probably benign
R0980:A430078G23Rik UTSW 8 3389095 utr 3 prime probably benign
R1175:A430078G23Rik UTSW 8 3389023 utr 3 prime probably benign
R1649:A430078G23Rik UTSW 8 3389094 utr 3 prime probably benign
R1781:A430078G23Rik UTSW 8 3380495 missense probably damaging 0.98
R2211:A430078G23Rik UTSW 8 3387680 missense possibly damaging 0.95
R2843:A430078G23Rik UTSW 8 3364634 missense possibly damaging 0.82
R5319:A430078G23Rik UTSW 8 3385010 critical splice donor site probably null
R5415:A430078G23Rik UTSW 8 3388075 missense probably damaging 0.99
R5588:A430078G23Rik UTSW 8 3388878 utr 3 prime probably benign
R6455:A430078G23Rik UTSW 8 3388753 missense probably benign 0.16
R7573:A430078G23Rik UTSW 8 3384918 missense probably damaging 0.96
R7664:A430078G23Rik UTSW 8 3386390 missense probably damaging 0.98
R7731:A430078G23Rik UTSW 8 3384936 missense probably damaging 0.99
R7845:A430078G23Rik UTSW 8 3386959 missense probably damaging 0.99
R8167:A430078G23Rik UTSW 8 3353636 start gained probably benign
Posted On2016-08-02