Incidental Mutation 'R7258:4933402J07Rik'
ID 564425
Institutional Source Beutler Lab
Gene Symbol 4933402J07Rik
Ensembl Gene ENSMUSG00000069971
Gene Name RIKEN cDNA 4933402J07 gene
Synonyms
MMRRC Submission 045386-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7258 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 88290535-88315825 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88312805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 197 (S197R)
Ref Sequence ENSEMBL: ENSMUSP00000091033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093342]
AlphaFold Q8BHX0
Predicted Effect probably damaging
Transcript: ENSMUST00000093342
AA Change: S197R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091033
Gene: ENSMUSG00000069971
AA Change: S197R

DomainStartEndE-ValueType
Pfam:DUF4638 1 269 3e-125 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,287,486 (GRCm39) R120G possibly damaging Het
Abhd14b A G 9: 106,327,418 (GRCm39) I67V probably benign Het
Alpk1 A T 3: 127,518,115 (GRCm39) V62E probably damaging Het
Ankar A G 1: 72,690,886 (GRCm39) V1196A probably benign Het
Ccr5 A T 9: 123,925,311 (GRCm39) K305* probably null Het
Cdc42bpb T C 12: 111,292,518 (GRCm39) H339R probably damaging Het
Cdhr18 A T 14: 13,899,648 (GRCm38) F91L Het
Cep290 T G 10: 100,334,970 (GRCm39) M330R probably benign Het
Cyfip2 T C 11: 46,115,004 (GRCm39) Y901C probably benign Het
Ddx54 T G 5: 120,758,812 (GRCm39) Y352D probably damaging Het
Defa35 A T 8: 21,555,245 (GRCm39) H55L possibly damaging Het
Dnmt3b T A 2: 153,525,519 (GRCm39) probably null Het
Enpep A C 3: 129,125,724 (GRCm39) L136R probably benign Het
Epb41l2 G A 10: 25,360,185 (GRCm39) A516T probably damaging Het
Frmd4a A T 2: 4,305,764 (GRCm39) Q13L probably benign Het
Frmpd1 C A 4: 45,269,974 (GRCm39) D271E possibly damaging Het
Gbp5 T A 3: 142,212,542 (GRCm39) L410H probably damaging Het
Gipc2 T C 3: 151,871,352 (GRCm39) E58G probably damaging Het
Gm6309 A T 5: 146,105,106 (GRCm39) V269E probably benign Het
Grm5 A T 7: 87,723,914 (GRCm39) T735S probably damaging Het
H6pd T C 4: 150,080,819 (GRCm39) M9V probably benign Het
Hmcn1 A G 1: 150,591,574 (GRCm39) I1875T probably benign Het
Hrc T A 7: 44,985,720 (GRCm39) D290E possibly damaging Het
Iftap T C 2: 101,440,937 (GRCm39) D22G probably null Het
Ippk C A 13: 49,587,338 (GRCm39) Q136K probably benign Het
Kcnv1 T C 15: 44,972,711 (GRCm39) T391A probably damaging Het
Kdm5b A C 1: 134,548,759 (GRCm39) E1088A probably damaging Het
L1td1 C T 4: 98,625,101 (GRCm39) A432V probably benign Het
Ly86 A G 13: 37,529,473 (GRCm39) D20G probably benign Het
Myo1g A G 11: 6,459,416 (GRCm39) I818T possibly damaging Het
Nms A G 1: 38,986,051 (GRCm39) T121A probably benign Het
Or1e31 T G 11: 73,690,206 (GRCm39) I126L probably damaging Het
Or1j4 T A 2: 36,740,352 (GRCm39) I98K probably damaging Het
Or51af1 G C 7: 103,141,796 (GRCm39) C96W probably damaging Het
Or6b3 A T 1: 92,438,898 (GRCm39) I284N possibly damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or8k37 T A 2: 86,469,345 (GRCm39) K236* probably null Het
Pcdhb9 T C 18: 37,535,167 (GRCm39) L387P probably damaging Het
Pcsk1 G A 13: 75,241,305 (GRCm39) R95H probably damaging Het
Pde11a T C 2: 75,970,250 (GRCm39) D502G possibly damaging Het
Plekhg2 T C 7: 28,064,203 (GRCm39) D446G probably benign Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rasal2 A T 1: 156,985,270 (GRCm39) L826M probably damaging Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Sin3b T C 8: 73,476,836 (GRCm39) C757R probably benign Het
Slc41a1 T A 1: 131,769,780 (GRCm39) V300D probably benign Het
Snorc A C 1: 87,402,789 (GRCm39) I40L probably benign Het
Snrpa1 T C 7: 65,719,891 (GRCm39) F162L probably damaging Het
Sox30 C A 11: 45,871,379 (GRCm39) A78E unknown Het
Ssc4d G T 5: 135,991,941 (GRCm39) A401E probably damaging Het
Steap3 A G 1: 120,171,716 (GRCm39) F130L possibly damaging Het
Stx5a A G 19: 8,732,271 (GRCm39) probably null Het
Tgfbr2 A T 9: 115,958,898 (GRCm39) I172N probably damaging Het
Tgm4 A G 9: 122,891,556 (GRCm39) D557G probably benign Het
Tmprss11c A G 5: 86,419,272 (GRCm39) S96P probably damaging Het
Trpa1 T G 1: 14,973,473 (GRCm39) T282P probably damaging Het
Uba5 A T 9: 103,940,132 (GRCm39) V5E unknown Het
Ugt2b36 A T 5: 87,228,762 (GRCm39) L427H probably damaging Het
Utp14b T A 1: 78,642,691 (GRCm39) H196Q probably benign Het
Vmn2r44 T A 7: 8,380,848 (GRCm39) L348F probably damaging Het
Vmn2r93 T G 17: 18,525,403 (GRCm39) L354V probably benign Het
Wwc2 T A 8: 48,296,034 (GRCm39) N1079Y unknown Het
Zfp653 T C 9: 21,977,116 (GRCm39) D145G probably benign Het
Zfp777 T C 6: 48,002,731 (GRCm39) E453G probably damaging Het
Zfp936 T A 7: 42,839,803 (GRCm39) H423Q probably damaging Het
Zfyve9 A T 4: 108,514,151 (GRCm39) Y496N possibly damaging Het
Other mutations in 4933402J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02419:4933402J07Rik APN 8 88,312,727 (GRCm39) missense possibly damaging 0.92
IGL02896:4933402J07Rik APN 8 88,315,648 (GRCm39) missense probably damaging 0.99
R1755:4933402J07Rik UTSW 8 88,315,585 (GRCm39) missense possibly damaging 0.73
R1848:4933402J07Rik UTSW 8 88,295,121 (GRCm39) nonsense probably null
R2150:4933402J07Rik UTSW 8 88,312,691 (GRCm39) nonsense probably null
R4832:4933402J07Rik UTSW 8 88,294,601 (GRCm39) missense probably null 0.95
R5604:4933402J07Rik UTSW 8 88,295,125 (GRCm39) missense possibly damaging 0.80
R6470:4933402J07Rik UTSW 8 88,290,656 (GRCm39) missense probably benign 0.00
R8464:4933402J07Rik UTSW 8 88,315,649 (GRCm39) missense probably damaging 0.98
R8922:4933402J07Rik UTSW 8 88,295,177 (GRCm39) missense possibly damaging 0.95
R9043:4933402J07Rik UTSW 8 88,309,238 (GRCm39) missense possibly damaging 0.45
R9801:4933402J07Rik UTSW 8 88,290,717 (GRCm39) missense probably damaging 0.98
Z1176:4933402J07Rik UTSW 8 88,295,202 (GRCm39) missense probably benign 0.01
Z1177:4933402J07Rik UTSW 8 88,312,745 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCATGATCTAACTTCCTGGG -3'
(R):5'- TCCAGGCATGTGTTCACAGC -3'

Sequencing Primer
(F):5'- ATGATCTAACTTCCTGGGGGCATC -3'
(R):5'- CCTACTGACCTAGGCCTGC -3'
Posted On 2019-06-26