Incidental Mutation 'R4996:4930505A04Rik'
ID 385275
Institutional Source Beutler Lab
Gene Symbol 4930505A04Rik
Ensembl Gene ENSMUSG00000040919
Gene Name RIKEN cDNA 4930505A04 gene
Synonyms
MMRRC Submission 042590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4996 (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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 A G 9: 107,808,934 (GRCm39) I1086V possibly damaging Het
Adgrv1 T C 13: 81,726,853 (GRCm39) S500G probably benign Het
Ahcyl1 A T 3: 107,575,603 (GRCm39) V394E probably damaging Het
Alg9 T C 9: 50,720,005 (GRCm39) F494L probably damaging Het
Ankrd55 C A 13: 112,492,622 (GRCm39) D264E possibly damaging Het
Asb14 A G 14: 26,634,073 (GRCm39) N426S possibly damaging Het
Atm A T 9: 53,435,807 (GRCm39) F168I probably benign Het
Atp13a4 A T 16: 29,290,822 (GRCm39) I209N probably damaging Het
BB014433 A T 8: 15,092,166 (GRCm39) L229Q probably benign Het
Calml3 T C 13: 3,854,142 (GRCm39) D21G probably damaging Het
Capn10 A G 1: 92,872,858 (GRCm39) N528S probably damaging Het
Ccnl2 T A 4: 155,897,981 (GRCm39) D141E possibly damaging Het
Cd163 A G 6: 124,296,106 (GRCm39) I817V probably benign Het
Cgnl1 CTTGCCCAGGTT CTT 9: 71,632,108 (GRCm39) probably benign Het
Cln6 T A 9: 62,757,937 (GRCm39) I232N probably damaging Het
Col22a1 A C 15: 71,879,010 (GRCm39) V49G probably damaging Het
Csmd1 A T 8: 15,960,452 (GRCm39) M3321K probably damaging Het
Cyp2u1 T A 3: 131,091,933 (GRCm39) M196L probably benign Het
Dlec1 T G 9: 118,975,118 (GRCm39) L1566R probably damaging Het
Dnajc3 A G 14: 119,209,839 (GRCm39) T305A probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Efhd1 G T 1: 87,192,280 (GRCm39) G37W possibly damaging Het
Exph5 G C 9: 53,286,910 (GRCm39) E1330D possibly damaging Het
Fbln2 A T 6: 91,242,992 (GRCm39) Y913F probably benign Het
Fmnl1 G A 11: 103,073,482 (GRCm39) S167N possibly damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Gmpr2 T C 14: 55,914,252 (GRCm39) I169T probably damaging Het
Gria2 A G 3: 80,614,448 (GRCm39) S531P probably damaging Het
Hace1 G A 10: 45,526,046 (GRCm39) A296T probably benign Het
Ift70a1 C T 2: 75,810,266 (GRCm39) G606S probably benign Het
Inhbb A C 1: 119,348,548 (GRCm39) L90R probably damaging Het
Insr C T 8: 3,242,665 (GRCm39) R18Q probably null Het
Kdm6b G T 11: 69,296,557 (GRCm39) P570Q probably damaging Het
Lama3 T C 18: 12,651,800 (GRCm39) V1803A probably benign Het
Lpin3 T A 2: 160,747,207 (GRCm39) L811Q probably damaging Het
Lrrc8e C T 8: 4,285,166 (GRCm39) L464F probably damaging Het
Micall2 A G 5: 139,696,344 (GRCm39) S729P probably benign Het
Naca C T 10: 127,878,298 (GRCm39) probably benign Het
Nav1 A T 1: 135,393,709 (GRCm39) S1010T probably damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,085,172 (GRCm39) F136I possibly damaging Het
Nup210 A T 6: 91,030,418 (GRCm39) F137Y probably benign Het
Or1o3 A G 17: 37,573,758 (GRCm39) S266P probably benign Het
Or3a1c A G 11: 74,046,157 (GRCm39) H59R probably damaging Het
Or8k32 T C 2: 86,368,615 (GRCm39) I215V probably benign Het
Otog C A 7: 45,948,030 (GRCm39) H2344N possibly damaging Het
Otog C A 7: 45,954,934 (GRCm39) C517* probably null Het
Pcdhac1 C T 18: 37,225,580 (GRCm39) Q798* probably null Het
Pdhx T C 2: 102,860,657 (GRCm39) D330G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pgr C A 9: 8,900,914 (GRCm39) P149Q probably damaging Het
Plaat1 G A 16: 29,036,456 (GRCm39) W31* probably null Het
Ppm1h A T 10: 122,777,245 (GRCm39) I504F probably damaging Het
Ppp6r3 A G 19: 3,523,833 (GRCm39) S556P probably damaging Het
Ranbp9 G A 13: 43,578,570 (GRCm39) Q168* probably null Het
Relb A T 7: 19,349,528 (GRCm39) L259Q probably benign Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Rgcc T C 14: 79,527,716 (GRCm39) D125G possibly damaging Het
Rmnd5b A G 11: 51,518,735 (GRCm39) V86A probably damaging Het
Slc15a5 G A 6: 138,020,583 (GRCm39) T250M probably damaging Het
Slc7a2 A T 8: 41,365,599 (GRCm39) K477* probably null Het
Slx9 A T 10: 77,351,367 (GRCm39) W14R probably null Het
Smc2 T A 4: 52,461,042 (GRCm39) probably null Het
Sox5 A T 6: 143,974,070 (GRCm39) L226* probably null Het
Sp140l2 G T 1: 85,224,815 (GRCm39) A240E probably benign Het
Syne2 A G 12: 75,990,724 (GRCm39) E1903G possibly damaging Het
Tenm3 A T 8: 48,688,861 (GRCm39) I2226N probably damaging Het
Tmtc3 A T 10: 100,283,086 (GRCm39) I823N probably damaging Het
Top6bl T A 19: 4,676,112 (GRCm39) K673N probably benign Het
Tor3a T C 1: 156,483,342 (GRCm39) Y360C probably damaging Het
Trpc3 T C 3: 36,716,967 (GRCm39) E357G probably benign Het
Tubgcp6 A T 15: 88,987,693 (GRCm39) N1093K possibly damaging Het
Vmn1r64 T A 7: 5,887,052 (GRCm39) T164S probably benign Het
Vmn2r40 T A 7: 8,911,166 (GRCm39) Q709L probably damaging Het
Vmn2r81 A T 10: 79,129,247 (GRCm39) I713L probably benign Het
Washc5 T C 15: 59,205,484 (GRCm39) T686A probably benign Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) probably benign 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
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
R5477:4930505A04Rik 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 2016-05-10