Incidental Mutation 'R5419:4931429L15Rik'
ID 427931
Institutional Source Beutler Lab
Gene Symbol 4931429L15Rik
Ensembl Gene ENSMUSG00000056617
Gene Name RIKEN cDNA 4931429L15 gene
Synonyms
MMRRC Submission 042987-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5419 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 46214659-46231284 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 46220624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159565] [ENSMUST00000160795] [ENSMUST00000172280]
AlphaFold E9PVU2
Predicted Effect probably null
Transcript: ENSMUST00000159565
SMART Domains Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160795
Predicted Effect probably null
Transcript: ENSMUST00000172280
SMART Domains Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,143,533 (GRCm39) probably null Het
Akap13 A T 7: 75,259,991 (GRCm39) T69S probably benign Het
Arl1 T A 10: 88,572,966 (GRCm39) C80S probably damaging Het
Bltp2 T A 11: 78,162,916 (GRCm39) L926* probably null Het
Brsk1 A G 7: 4,712,003 (GRCm39) T618A possibly damaging Het
Cep295 T C 9: 15,235,533 (GRCm39) H1982R probably damaging Het
Ces5a A T 8: 94,226,059 (GRCm39) S559T unknown Het
Clcf1 A G 19: 4,272,213 (GRCm39) N90S possibly damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Cobll1 A T 2: 64,933,701 (GRCm39) D430E possibly damaging Het
Cyp1a2 T A 9: 57,589,794 (GRCm39) I7F probably benign Het
Cyp2b23 G A 7: 26,380,848 (GRCm39) R126* probably null Het
Daam2 A G 17: 49,787,782 (GRCm39) W444R possibly damaging Het
Dcbld2 T A 16: 58,275,621 (GRCm39) C446S probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eif2d T C 1: 131,086,035 (GRCm39) *177R probably null Het
Fkbp15 G A 4: 62,246,114 (GRCm39) A438V probably damaging Het
Gjb5 G A 4: 127,249,652 (GRCm39) A164V probably benign Het
Grin1 A T 2: 25,188,285 (GRCm39) probably null Het
Grm3 A G 5: 9,620,233 (GRCm39) F337S probably damaging Het
Hey2 T A 10: 30,710,019 (GRCm39) T245S probably benign Het
Ifi206 T C 1: 173,308,797 (GRCm39) T400A probably benign Het
Itga7 G A 10: 128,779,902 (GRCm39) E480K probably null Het
Itpr1 T C 6: 108,470,755 (GRCm39) Y2227H possibly damaging Het
Krt8 T C 15: 101,912,337 (GRCm39) D113G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lins1 A G 7: 66,357,843 (GRCm39) probably benign Het
Lmf1 A T 17: 25,881,610 (GRCm39) D553V possibly damaging Het
Lnpep A G 17: 17,786,992 (GRCm39) S536P probably damaging Het
Lrp1b A T 2: 40,620,716 (GRCm39) C3587* probably null Het
Macf1 A T 4: 123,290,917 (GRCm39) D3435E possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Myg1 A T 15: 102,245,397 (GRCm39) N206I probably damaging Het
Myl12a T G 17: 71,301,694 (GRCm39) R144S probably benign Het
Myo5a T A 9: 75,055,179 (GRCm39) I454K probably damaging Het
Nwd2 A G 5: 63,965,051 (GRCm39) D1545G probably benign Het
Ogdhl T G 14: 32,061,181 (GRCm39) D457E probably damaging Het
Or5ac20 T A 16: 59,104,704 (GRCm39) D52V probably damaging Het
Or9s18 A C 13: 65,300,588 (GRCm39) L183F probably damaging Het
Paf1 A G 7: 28,095,095 (GRCm39) I112V possibly damaging Het
Pate7 T A 9: 35,689,407 (GRCm39) probably null Het
Pcdhga4 C T 18: 37,819,798 (GRCm39) P449L probably damaging Het
Pla2g6 A T 15: 79,183,342 (GRCm39) I495N possibly damaging Het
Ptgs1 A G 2: 36,127,234 (GRCm39) Y40C probably damaging Het
Ptprn2 A T 12: 117,148,267 (GRCm39) I676F probably damaging Het
Rev3l T C 10: 39,700,927 (GRCm39) L1808P possibly damaging Het
Sall2 A G 14: 52,550,586 (GRCm39) S868P probably damaging Het
Shoc1 A T 4: 59,049,017 (GRCm39) M1116K probably benign Het
Slc47a2 A G 11: 61,198,412 (GRCm39) F428L probably benign Het
Slco1a7 C T 6: 141,681,826 (GRCm39) probably null Het
Slco3a1 A T 7: 73,934,363 (GRCm39) F603Y possibly damaging Het
Smyd2 A T 1: 189,642,090 (GRCm39) C65* probably null Het
Ssu72 T C 4: 155,800,007 (GRCm39) F57L probably damaging Het
Tanc2 A G 11: 105,813,709 (GRCm39) T1718A probably benign Het
Tnks G C 8: 35,432,720 (GRCm39) P34A unknown Het
Top3a G A 11: 60,653,348 (GRCm39) T42I probably damaging Het
Trank1 T C 9: 111,220,369 (GRCm39) S2369P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqln1 T C 13: 58,330,997 (GRCm39) Q410R probably damaging Het
Vmn2r11 A G 5: 109,207,224 (GRCm39) I32T possibly damaging Het
Xcr1 A G 9: 123,685,375 (GRCm39) F129S probably benign Het
Other mutations in 4931429L15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:4931429L15Rik APN 9 46,220,250 (GRCm39) missense possibly damaging 0.95
IGL01649:4931429L15Rik APN 9 46,217,116 (GRCm39) missense probably benign 0.00
R0094:4931429L15Rik UTSW 9 46,218,184 (GRCm39) missense possibly damaging 0.94
R0094:4931429L15Rik UTSW 9 46,218,184 (GRCm39) missense possibly damaging 0.94
R1496:4931429L15Rik UTSW 9 46,221,552 (GRCm39) unclassified probably benign
R1971:4931429L15Rik UTSW 9 46,220,086 (GRCm39) missense probably benign 0.00
R2139:4931429L15Rik UTSW 9 46,215,593 (GRCm39) missense probably damaging 0.96
R4078:4931429L15Rik UTSW 9 46,215,359 (GRCm39) nonsense probably null
R4780:4931429L15Rik UTSW 9 46,220,144 (GRCm39) missense possibly damaging 0.90
R5088:4931429L15Rik UTSW 9 46,217,038 (GRCm39) missense probably benign 0.00
R5138:4931429L15Rik UTSW 9 46,218,119 (GRCm39) critical splice donor site probably null
R5734:4931429L15Rik UTSW 9 46,215,303 (GRCm39) unclassified probably benign
R5739:4931429L15Rik UTSW 9 46,220,717 (GRCm39) missense probably benign 0.27
R5907:4931429L15Rik UTSW 9 46,218,120 (GRCm39) missense probably damaging 0.97
R6127:4931429L15Rik UTSW 9 46,220,220 (GRCm39) missense probably damaging 1.00
R6564:4931429L15Rik UTSW 9 46,218,202 (GRCm39) missense probably damaging 0.99
R7556:4931429L15Rik UTSW 9 46,221,611 (GRCm39) nonsense probably null
R7818:4931429L15Rik UTSW 9 46,215,519 (GRCm39) missense probably benign 0.01
R8894:4931429L15Rik UTSW 9 46,216,397 (GRCm39) missense probably benign 0.24
R8962:4931429L15Rik UTSW 9 46,220,173 (GRCm39) missense probably benign 0.01
X0024:4931429L15Rik UTSW 9 46,220,267 (GRCm39) small deletion probably benign
Z1177:4931429L15Rik UTSW 9 46,217,136 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AAAATATGCCCGCTTTCTGGG -3'
(R):5'- TGGACCCATCTGGACATTGC -3'

Sequencing Primer
(F):5'- TCTGGGTTCCCTAGGAGAGCAG -3'
(R):5'- CTTGCTTTCCCCTGGGAGG -3'
Posted On 2016-09-01