Incidental Mutation 'R8394:4930505A04Rik'
ID 647535
Institutional Source Beutler Lab
Gene Symbol 4930505A04Rik
Ensembl Gene ENSMUSG00000040919
Gene Name RIKEN cDNA 4930505A04 gene
Synonyms
MMRRC Submission 067758-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 30376006-30421827 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 30404880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041763] [ENSMUST00000041763] [ENSMUST00000152718]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000041763
Predicted Effect probably null
Transcript: ENSMUST00000041763
Predicted Effect probably benign
Transcript: ENSMUST00000152718
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,379,623 (GRCm39) N137S probably benign Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cmbl A G 15: 31,585,541 (GRCm39) M142V possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Klra2 A T 6: 131,222,273 (GRCm39) V6D possibly damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,849 (GRCm39) S352P probably benign Het
Nme6 T A 9: 109,664,394 (GRCm39) M1K probably null Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tmtc3 T C 10: 100,282,808 (GRCm39) I916V probably damaging Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G 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
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
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'- TATCAATGTAGGGAACTGGCTC -3'
(R):5'- GTTTGTTCAGTATACTAGTATGCCACG -3'

Sequencing Primer
(F):5'- AGGGAACTGGCTCGTTGTATG -3'
(R):5'- CCTTTCATTGCTGCAGGA -3'
Posted On 2020-09-02