Incidental Mutation 'R5477:4930505A04Rik'
ID 434122
Institutional Source Beutler Lab
Gene Symbol 4930505A04Rik
Ensembl Gene ENSMUSG00000040919
Gene Name RIKEN cDNA 4930505A04 gene
Synonyms
MMRRC Submission 043038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5477 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 30376006-30421827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30376349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 173 (V173M)
Ref Sequence ENSEMBL: ENSMUSP00000045288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041763] [ENSMUST00000152718]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041763
AA Change: V173M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000152718
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,588,984 (GRCm39) Y421H probably damaging Het
Abca13 A G 11: 9,251,298 (GRCm39) K2890R possibly damaging Het
Aff4 T A 11: 53,299,299 (GRCm39) probably null Het
Brd10 A G 19: 29,731,518 (GRCm39) V498A probably benign Het
Cntn4 A T 6: 106,650,911 (GRCm39) Q698L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dmrt1 A G 19: 25,487,164 (GRCm39) M157V probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Gm10521 T A 1: 171,724,067 (GRCm39) M126K unknown Het
Hs2st1 A G 3: 144,262,709 (GRCm39) probably benign Het
Lats2 T C 14: 57,937,010 (GRCm39) D113G probably benign Het
Myo15a A C 11: 60,368,503 (GRCm39) D421A probably damaging Het
Or5k15 T A 16: 58,710,107 (GRCm39) I159F probably benign Het
Or5k17 A T 16: 58,746,393 (GRCm39) D180E possibly damaging Het
Or6z6 T C 7: 6,491,570 (GRCm39) Y94C probably benign Het
Pappa2 T A 1: 158,784,308 (GRCm39) D234V probably benign Het
Parl G T 16: 20,098,824 (GRCm39) T311K possibly damaging Het
Pias3 G A 3: 96,612,319 (GRCm39) R557H probably damaging Het
Pskh1 C T 8: 106,656,511 (GRCm39) R396C probably damaging Het
Rc3h2 T C 2: 37,289,642 (GRCm39) D390G possibly damaging Het
Ryr2 G T 13: 11,720,542 (GRCm39) P2702Q probably damaging Het
Senp6 C A 9: 80,051,125 (GRCm39) A961D probably damaging Het
Slc27a3 A G 3: 90,294,146 (GRCm39) S503P probably benign Het
Slc39a12 T C 2: 14,394,193 (GRCm39) V21A possibly damaging Het
Sox7 A G 14: 64,185,945 (GRCm39) Y327C probably damaging Het
Spdl1 A T 11: 34,713,037 (GRCm39) F288I possibly damaging Het
Ssbp2 T A 13: 91,812,244 (GRCm39) M127K probably damaging Het
Sspo A C 6: 48,475,327 (GRCm39) S5032R possibly damaging Het
Sycp1 A T 3: 102,726,206 (GRCm39) W973R probably damaging Het
Tm4sf5 C T 11: 70,401,174 (GRCm39) T130I probably benign Het
Top2a T A 11: 98,907,306 (GRCm39) K175* probably null Het
Trim30d T A 7: 104,121,347 (GRCm39) Y316F probably damaging Het
Vmn1r124 G A 7: 20,993,653 (GRCm39) P297L probably damaging Het
Zfp715 T C 7: 42,949,378 (GRCm39) Y194C probably damaging Het
Other mutations in 4930505A04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:4930505A04Rik APN 11 30,404,843 (GRCm39) missense possibly damaging 0.69
IGL01545:4930505A04Rik APN 11 30,376,228 (GRCm39) missense probably benign 0.13
R0400:4930505A04Rik UTSW 11 30,376,360 (GRCm39) missense probably benign 0.09
R1029:4930505A04Rik UTSW 11 30,396,389 (GRCm39) splice site probably benign
R1029:4930505A04Rik UTSW 11 30,376,177 (GRCm39) missense probably damaging 0.96
R1585:4930505A04Rik UTSW 11 30,377,175 (GRCm39) splice site probably benign
R4708:4930505A04Rik UTSW 11 30,404,717 (GRCm39) missense probably damaging 0.98
R4993:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R4994:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R4995:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R4996:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5187:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5189:4930505A04Rik UTSW 11 30,376,169 (GRCm39) missense probably damaging 0.97
R5330:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5333:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5448:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5449:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5450:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5475:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5665:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5823:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5832:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5833:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5835:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R5873:4930505A04Rik UTSW 11 30,376,220 (GRCm39) nonsense probably null
R6032:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R6032:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R6037:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R6037:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R6058:4930505A04Rik UTSW 11 30,376,349 (GRCm39) missense probably damaging 0.97
R6224:4930505A04Rik UTSW 11 30,404,815 (GRCm39) missense probably benign 0.44
R8394:4930505A04Rik UTSW 11 30,404,880 (GRCm39) critical splice acceptor site probably null
R8536:4930505A04Rik UTSW 11 30,376,217 (GRCm39) missense probably benign 0.19
R9149:4930505A04Rik UTSW 11 30,396,304 (GRCm39) missense probably benign 0.39
R9765:4930505A04Rik UTSW 11 30,404,829 (GRCm39) missense probably benign 0.01
RF046:4930505A04Rik UTSW 11 30,376,249 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAACTCTTGGGAATTCTGTTGG -3'
(R):5'- CACAGGCTCTTCTCTGACTG -3'

Sequencing Primer
(F):5'- AACTCTTGGGAATTCTGTTGGCATAG -3'
(R):5'- ACAGGCTCTTCTCTGACTGTTTTAC -3'
Posted On 2016-10-06