Incidental Mutation 'R7541:4930539E08Rik'
ID583912
Institutional Source Beutler Lab
Gene Symbol 4930539E08Rik
Ensembl Gene ENSMUSG00000048905
Gene NameRIKEN cDNA 4930539E08 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7541 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location28896392-28915324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 28905324 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 335 (R335W)
Ref Sequence ENSEMBL: ENSMUSP00000050646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062357]
Predicted Effect probably damaging
Transcript: ENSMUST00000062357
AA Change: R335W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050646
Gene: ENSMUSG00000048905
AA Change: R335W

DomainStartEndE-ValueType
Pfam:CF222 31 669 1.6e-289 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik G A 19: 5,503,411 P114L probably benign Het
9530053A07Rik T A 7: 28,144,256 C856* probably null Het
Acss2 G A 2: 155,574,690 probably null Het
Adamts10 G A 17: 33,531,616 R210H probably benign Het
Als2 T C 1: 59,167,616 probably null Het
Aplp2 A T 9: 31,152,356 M652K possibly damaging Het
Atrn A G 2: 130,961,571 I560M possibly damaging Het
Bicc1 T C 10: 70,946,604 D602G possibly damaging Het
Cdh4 A G 2: 179,444,810 probably null Het
Clasp1 T A 1: 118,542,997 probably null Het
Col6a6 A G 9: 105,767,324 I1255T probably damaging Het
Comp G T 8: 70,381,350 V672L probably damaging Het
Dbnl T G 11: 5,795,486 D122E probably damaging Het
Dgkz G A 2: 91,942,675 R346C probably damaging Het
Dnhd1 C T 7: 105,678,309 R54C probably damaging Het
Elmo3 T C 8: 105,306,714 I121T probably damaging Het
Fam184b A G 5: 45,542,232 L614P probably damaging Het
Fbxo18 T C 2: 11,749,537 R797G probably benign Het
Gata6 A G 18: 11,059,108 T392A probably damaging Het
Gm17783 T A 16: 45,528,492 T106S possibly damaging Het
Gm21731 A T 13: 120,240,979 M104L probably benign Het
Gm29609 A G 5: 31,154,232 F855S probably benign Het
Gm3424 T C 14: 5,829,330 N88D possibly damaging Het
Gnas T A 2: 174,298,099 S80T unknown Het
Hsd17b14 C A 7: 45,566,146 P190Q probably damaging Het
Iqch C T 9: 63,445,521 V955I possibly damaging Het
Kcnt2 T C 1: 140,376,384 V164A probably benign Het
Krt87 A G 15: 101,438,634 L46P probably damaging Het
Lef1 A G 3: 131,191,099 M237V probably benign Het
Lmbr1l A T 15: 98,909,386 probably null Het
Lrrc49 T C 9: 60,610,403 I408V probably damaging Het
Luc7l3 T C 11: 94,295,965 S365G unknown Het
March2 A T 17: 33,703,058 C109* probably null Het
Metrnl T A 11: 121,715,970 C284S probably damaging Het
Mmachc G A 4: 116,705,885 T91I probably benign Het
Mrps7 T G 11: 115,606,870 M187R probably damaging Het
Ncapd3 A G 9: 27,067,040 E845G probably damaging Het
Olfr1393 T A 11: 49,280,333 F62I probably damaging Het
Olfr272 A T 4: 52,911,376 D139E probably benign Het
Ooep T A 9: 78,378,065 T90S possibly damaging Het
Pcdhb18 A T 18: 37,491,609 D664V probably damaging Het
Pigz T C 16: 31,945,131 S336P probably benign Het
Pou2f2 A T 7: 25,116,128 D71E probably benign Het
Reep6 G T 10: 80,335,199 R303L possibly damaging Het
Rmdn2 A T 17: 79,627,868 S137C Het
Rnf220 A T 4: 117,489,930 L95H probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,911 probably benign Het
Stxbp1 A T 2: 32,818,505 S83T probably damaging Het
Trappc11 T C 8: 47,505,582 probably null Het
Ttn G T 2: 76,791,301 D15598E probably damaging Het
Vav2 T A 2: 27,275,002 R645W probably damaging Het
Vmn1r169 T A 7: 23,577,987 V268D probably benign Het
Zp2 A T 7: 120,136,056 C365S probably damaging Het
Other mutations in 4930539E08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03040:4930539E08Rik APN 17 28915202 missense probably benign 0.01
R4163:4930539E08Rik UTSW 17 28899529 missense probably benign 0.04
R4667:4930539E08Rik UTSW 17 28908313 missense possibly damaging 0.94
R4918:4930539E08Rik UTSW 17 28908363 missense probably benign 0.08
R4942:4930539E08Rik UTSW 17 28903258 missense probably benign
R5950:4930539E08Rik UTSW 17 28905755 missense possibly damaging 0.84
R6073:4930539E08Rik UTSW 17 28904623 missense probably damaging 0.99
R6556:4930539E08Rik UTSW 17 28904611 missense probably damaging 0.99
R7392:4930539E08Rik UTSW 17 28908377 missense probably benign 0.01
R7404:4930539E08Rik UTSW 17 28905324 missense probably damaging 1.00
R7405:4930539E08Rik UTSW 17 28905324 missense probably damaging 1.00
R7473:4930539E08Rik UTSW 17 28905324 missense probably damaging 1.00
R7544:4930539E08Rik UTSW 17 28905324 missense probably damaging 1.00
R7562:4930539E08Rik UTSW 17 28909804 missense probably benign 0.02
R7588:4930539E08Rik UTSW 17 28905456 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TCTGAGGGATCCCACTTGTACC -3'
(R):5'- AGTGCAAATCCCTCAGCCAG -3'

Sequencing Primer
(F):5'- CTTGTACCCAAGTGAGACCATGTG -3'
(R):5'- GAAGCGGTTCCTCCACGAAAG -3'
Posted On2019-10-17