Incidental Mutation 'R7616:4931414P19Rik'
ID 588931
Institutional Source Beutler Lab
Gene Symbol 4931414P19Rik
Ensembl Gene ENSMUSG00000022179
Gene Name RIKEN cDNA 4931414P19 gene
Synonyms
MMRRC Submission 045716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R7616 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54821120-54843450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54823123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 358 (D358G)
Ref Sequence ENSEMBL: ENSMUSP00000022786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022786]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022786
AA Change: D358G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: D358G

DomainStartEndE-ValueType
Pfam:DUF4616 2 538 1.5e-263 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227280
Meta Mutation Damage Score 0.2219 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,896,738 (GRCm39) F290S probably benign Het
A630089N07Rik T A 16: 97,867,410 (GRCm39) Q184L probably damaging Het
Adam10 A G 9: 70,629,993 (GRCm39) R142G possibly damaging Het
Adgrb1 A G 15: 74,420,418 (GRCm39) T856A probably damaging Het
Angel1 A G 12: 86,764,510 (GRCm39) S493P probably benign Het
Arid1b C G 17: 5,045,661 (GRCm39) P150A unknown Het
Atp8b5 T A 4: 43,370,823 (GRCm39) probably null Het
Cbfa2t3 T G 8: 123,360,076 (GRCm39) Q525P possibly damaging Het
Clip4 T C 17: 72,141,268 (GRCm39) Y541H probably benign Het
Cracr2a C T 6: 127,585,660 (GRCm39) Q153* probably null Het
Dsp G T 13: 38,375,458 (GRCm39) C1081F probably damaging Het
Dysf A G 6: 84,078,945 (GRCm39) D708G probably benign Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Etv1 T A 12: 38,915,605 (GRCm39) M424K probably damaging Het
Fam120b T G 17: 15,623,098 (GRCm39) S359A possibly damaging Het
Ffar2 A G 7: 30,519,357 (GRCm39) L61P probably damaging Het
Grm5 A T 7: 87,765,409 (GRCm39) D879V probably benign Het
Itpr3 C A 17: 27,307,951 (GRCm39) A246E probably damaging Het
Kmt2b G T 7: 30,281,633 (GRCm39) P1207Q probably damaging Het
Mamdc2 T A 19: 23,328,168 (GRCm39) Y400F probably damaging Het
Mtcl3 T C 10: 29,022,574 (GRCm39) probably benign Het
Muc4 T A 16: 32,574,161 (GRCm39) Y746* probably null Het
Mylk T C 16: 34,699,927 (GRCm39) F430S probably damaging Het
Nek10 G A 14: 14,937,759 (GRCm38) C826Y probably benign Het
Nf1 T A 11: 79,275,092 (GRCm39) F51Y probably damaging Het
Or10ag55-ps1 T C 2: 87,115,617 (GRCm39) *328Q probably null Het
Phf2 T A 13: 48,961,083 (GRCm39) Y869F unknown Het
Psmb7 T C 2: 38,523,976 (GRCm39) Y133C possibly damaging Het
Ptcd2 G A 13: 99,481,207 (GRCm39) probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Slbp A T 5: 33,801,210 (GRCm39) I167N probably damaging Het
Slc2a2 A G 3: 28,781,260 (GRCm39) T433A probably benign Het
Snap91 T A 9: 86,721,674 (GRCm39) N55I probably damaging Het
Stat4 A T 1: 52,053,037 (GRCm39) K73* probably null Het
Sult2a5 G A 7: 13,404,607 (GRCm39) M281I probably benign Het
Tenm3 A T 8: 48,794,084 (GRCm39) M647K possibly damaging Het
Trim66 T A 7: 109,082,956 (GRCm39) D162V probably damaging Het
Vangl1 A T 3: 102,091,381 (GRCm39) I235N probably damaging Het
Vmn1r175 T A 7: 23,508,031 (GRCm39) I199F possibly damaging Het
Vmn1r72 A G 7: 11,404,272 (GRCm39) S59P probably damaging Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Zfand2a A T 5: 139,464,321 (GRCm39) N61K probably damaging Het
Other mutations in 4931414P19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:4931414P19Rik APN 14 54,833,035 (GRCm39) missense possibly damaging 0.56
IGL01448:4931414P19Rik APN 14 54,823,417 (GRCm39) missense possibly damaging 0.77
IGL01934:4931414P19Rik APN 14 54,823,112 (GRCm39) missense probably damaging 1.00
IGL02194:4931414P19Rik APN 14 54,828,812 (GRCm39) nonsense probably null
IGL02721:4931414P19Rik APN 14 54,823,202 (GRCm39) missense probably damaging 1.00
IGL03124:4931414P19Rik APN 14 54,832,596 (GRCm39) missense probably benign 0.00
R0575:4931414P19Rik UTSW 14 54,828,709 (GRCm39) missense possibly damaging 0.62
R2049:4931414P19Rik UTSW 14 54,822,444 (GRCm39) nonsense probably null
R3829:4931414P19Rik UTSW 14 54,821,966 (GRCm39) missense probably damaging 1.00
R3876:4931414P19Rik UTSW 14 54,828,857 (GRCm39) nonsense probably null
R4392:4931414P19Rik UTSW 14 54,822,435 (GRCm39) critical splice donor site probably null
R4680:4931414P19Rik UTSW 14 54,822,533 (GRCm39) missense probably damaging 1.00
R4805:4931414P19Rik UTSW 14 54,832,911 (GRCm39) missense probably benign 0.00
R4940:4931414P19Rik UTSW 14 54,828,782 (GRCm39) missense probably benign
R5091:4931414P19Rik UTSW 14 54,823,168 (GRCm39) missense probably damaging 1.00
R5291:4931414P19Rik UTSW 14 54,823,394 (GRCm39) missense probably damaging 1.00
R5594:4931414P19Rik UTSW 14 54,822,441 (GRCm39) missense probably damaging 1.00
R6815:4931414P19Rik UTSW 14 54,828,610 (GRCm39) missense probably damaging 1.00
R7031:4931414P19Rik UTSW 14 54,833,058 (GRCm39) missense probably benign 0.23
R7229:4931414P19Rik UTSW 14 54,832,809 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGCTAGCCTTGGAATCACAG -3'
(R):5'- GCTAACTCATTCTAAGTGTGTCTC -3'

Sequencing Primer
(F):5'- CCAGTATAGATGGTTGTGAGCCACC -3'
(R):5'- CTTTCCTCTGGTGCTTCAAAAG -3'
Posted On 2019-10-24