Incidental Mutation 'IGL00476:4931414P19Rik'
ID12421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4931414P19Rik
Ensembl Gene ENSMUSG00000022179
Gene NameRIKEN cDNA 4931414P19 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL00476
Quality Score
Status
Chromosome14
Chromosomal Location54583663-54605993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54595578 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 47 (T47A)
Ref Sequence ENSEMBL: ENSMUSP00000022786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022786]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022786
AA Change: T47A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: T47A

DomainStartEndE-ValueType
Pfam:DUF4616 2 538 1.5e-263 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik A C X: 107,816,160 probably benign Het
Adgrv1 A G 13: 81,489,074 F3416S probably damaging Het
Arhgap42 T C 9: 9,006,343 D684G probably damaging Het
Atp13a1 T C 8: 69,796,897 L270P probably damaging Het
Baz2b T C 2: 59,913,739 N1474S probably benign Het
Chrna6 A G 8: 27,406,532 I439T probably damaging Het
Cylc2 T C 4: 51,228,157 M76T probably damaging Het
Ddx19a T C 8: 110,976,470 K445R probably benign Het
Dennd4a A T 9: 64,911,762 Y1733F probably damaging Het
Dopey2 G A 16: 93,800,026 probably benign Het
Dpcr1 G T 17: 35,638,102 H202N possibly damaging Het
Ephb3 T A 16: 21,220,415 probably null Het
Gpc2 G A 5: 138,274,309 probably benign Het
Ift172 A G 5: 31,275,896 Y550H probably damaging Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Ldhd G T 8: 111,628,638 R238S possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep T G 14: 60,827,361 L388R probably damaging Het
Naa35 A G 13: 59,630,055 D610G probably damaging Het
Nae1 A T 8: 104,526,381 L137Q possibly damaging Het
Nt5dc3 T C 10: 86,833,974 probably null Het
Nyx T C X: 13,487,025 F373L possibly damaging Het
Scaf11 A T 15: 96,418,580 D1034E possibly damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taar7a A T 10: 23,992,396 probably benign Het
Tcf23 G T 5: 30,973,525 C169F probably benign Het
Trim7 A T 11: 48,848,078 N308I probably benign Het
Ubxn8 T C 8: 33,635,305 E89G probably benign Het
Other mutations in 4931414P19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:4931414P19Rik APN 14 54585960 missense possibly damaging 0.77
IGL01934:4931414P19Rik APN 14 54585655 missense probably damaging 1.00
IGL02194:4931414P19Rik APN 14 54591355 nonsense probably null
IGL02721:4931414P19Rik APN 14 54585745 missense probably damaging 1.00
IGL03124:4931414P19Rik APN 14 54595139 missense probably benign 0.00
R0575:4931414P19Rik UTSW 14 54591252 missense possibly damaging 0.62
R2049:4931414P19Rik UTSW 14 54584987 nonsense probably null
R3829:4931414P19Rik UTSW 14 54584509 missense probably damaging 1.00
R3876:4931414P19Rik UTSW 14 54591400 nonsense probably null
R4392:4931414P19Rik UTSW 14 54584978 critical splice donor site probably null
R4680:4931414P19Rik UTSW 14 54585076 missense probably damaging 1.00
R4805:4931414P19Rik UTSW 14 54595454 missense probably benign 0.00
R4940:4931414P19Rik UTSW 14 54591325 missense probably benign
R5091:4931414P19Rik UTSW 14 54585711 missense probably damaging 1.00
R5291:4931414P19Rik UTSW 14 54585937 missense probably damaging 1.00
R5594:4931414P19Rik UTSW 14 54584984 missense probably damaging 1.00
R6815:4931414P19Rik UTSW 14 54591153 missense probably damaging 1.00
R7031:4931414P19Rik UTSW 14 54595601 missense probably benign 0.23
R7229:4931414P19Rik UTSW 14 54595352 missense probably benign 0.00
R7616:4931414P19Rik UTSW 14 54585666 missense probably damaging 1.00
Posted On2012-12-06