Incidental Mutation 'R3919:4930567H17Rik'
ID 306918
Institutional Source Beutler Lab
Gene Symbol 4930567H17Rik
Ensembl Gene ENSMUSG00000073141
Gene Name RIKEN cDNA 4930567H17 gene
MMRRC Submission 040817-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R3919 (G1)
Quality Score 109
Status Not validated
Chromosome X
Chromosomal Location 70393901-70394740 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70394529 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 53 (A53T)
Ref Sequence ENSEMBL: ENSMUSP00000090060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092405]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000092405
AA Change: A53T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090060
Gene: ENSMUSG00000073141
AA Change: A53T

SCOP:d1sig__ 115 223 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193512
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik G T 7: 44,230,428 (GRCm38) probably benign Het
Abcb5 A G 12: 118,890,618 (GRCm38) M854T possibly damaging Het
Akap9 T A 5: 3,961,764 (GRCm38) Y822* probably null Het
Apoe T C 7: 19,696,547 (GRCm38) T257A probably benign Het
Atm C A 9: 53,492,278 (GRCm38) A1365S probably benign Het
Bmp2k T C 5: 97,074,740 (GRCm38) S674P unknown Het
Cd177 T C 7: 24,744,433 (GRCm38) S747G probably benign Het
Cdk5rap2 A G 4: 70,380,223 (GRCm38) F91L possibly damaging Het
Chil4 A T 3: 106,202,532 (GRCm38) N388K probably benign Het
Dnah3 G A 7: 119,951,080 (GRCm38) L3328F probably damaging Het
Dysf G A 6: 84,186,509 (GRCm38) probably null Het
Ercc5 C A 1: 44,161,931 (GRCm38) T217K probably damaging Het
Esyt1 T A 10: 128,521,036 (GRCm38) probably benign Het
Ifih1 C A 2: 62,623,501 (GRCm38) probably benign Het
Ints12 A T 3: 133,100,683 (GRCm38) T124S probably benign Het
Kdm5d T C Y: 939,914 (GRCm38) L1022P probably damaging Het
Lama2 T A 10: 27,118,505 (GRCm38) N1803Y probably damaging Het
Lpcat2 C T 8: 92,914,274 (GRCm38) T449I probably damaging Het
Ly6c2 A T 15: 75,108,764 (GRCm38) probably null Het
Mast3 T C 8: 70,779,422 (GRCm38) K1304E probably benign Het
Mdm4 T C 1: 132,994,568 (GRCm38) K279E possibly damaging Het
Mest G A 6: 30,742,750 (GRCm38) S132N probably benign Het
Mras T A 9: 99,411,420 (GRCm38) I56F probably damaging Het
Mrgprb1 T C 7: 48,448,081 (GRCm38) K28E probably benign Het
Myrip G A 9: 120,432,629 (GRCm38) G436D probably damaging Het
Nr2e3 T A 9: 59,943,440 (GRCm38) T379S probably damaging Het
Olfr1065 A G 2: 86,445,418 (GRCm38) V188A probably benign Het
Plscr3 T A 11: 69,847,410 (GRCm38) probably benign Het
Pola1 C A X: 93,461,472 (GRCm38) R1313L probably benign Het
Ppt2 T C 17: 34,622,923 (GRCm38) N213S probably damaging Het
Prelid2 T A 18: 41,937,675 (GRCm38) D31V possibly damaging Het
Psmb9 C T 17: 34,183,614 (GRCm38) probably null Het
Rec8 A G 14: 55,621,259 (GRCm38) T164A probably benign Het
Rnf103 G A 6: 71,510,347 (GRCm38) R654Q probably benign Het
Setdb2 T A 14: 59,419,167 (GRCm38) I250F probably damaging Het
Slurp1 A T 15: 74,726,810 (GRCm38) *111K probably null Het
Sphkap T G 1: 83,276,458 (GRCm38) E903A probably damaging Het
Sst T C 16: 23,889,841 (GRCm38) D80G possibly damaging Het
Stat4 C T 1: 52,096,822 (GRCm38) T430I possibly damaging Het
Tmprss4 C T 9: 45,180,666 (GRCm38) V174M probably benign Het
Trim6 A T 7: 104,232,850 (GRCm38) Y436F probably damaging Het
Ttc28 C A 5: 111,285,379 (GRCm38) A2093E possibly damaging Het
Vav3 A G 3: 109,527,538 (GRCm38) N462D possibly damaging Het
Whrn G T 4: 63,495,184 (GRCm38) S17* probably null Het
Zfhx4 T A 3: 5,399,115 (GRCm38) S1469R possibly damaging Het
Zfp108 T A 7: 24,260,832 (GRCm38) C283S probably damaging Het
Other mutations in 4930567H17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0737:4930567H17Rik UTSW X 70,394,207 (GRCm38) unclassified probably benign
R2257:4930567H17Rik UTSW X 70,394,406 (GRCm38) missense probably damaging 1.00
R3939:4930567H17Rik UTSW X 70,394,529 (GRCm38) missense probably benign 0.07
R3940:4930567H17Rik UTSW X 70,394,529 (GRCm38) missense probably benign 0.07
R4231:4930567H17Rik UTSW X 70,394,529 (GRCm38) missense probably benign 0.07
R4232:4930567H17Rik UTSW X 70,394,529 (GRCm38) missense probably benign 0.07
R4234:4930567H17Rik UTSW X 70,394,529 (GRCm38) missense probably benign 0.07
R4235:4930567H17Rik UTSW X 70,394,529 (GRCm38) missense probably benign 0.07
R4236:4930567H17Rik UTSW X 70,394,529 (GRCm38) missense probably benign 0.07
R8139:4930567H17Rik UTSW X 70,394,514 (GRCm38) missense possibly damaging 0.89
R8890:4930567H17Rik UTSW X 70,394,388 (GRCm38) missense possibly damaging 0.71
R8895:4930567H17Rik UTSW X 70,394,388 (GRCm38) missense possibly damaging 0.71
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17