Incidental Mutation 'R1455:4921509C19Rik'
ID 161704
Institutional Source Beutler Lab
Gene Symbol 4921509C19Rik
Ensembl Gene ENSMUSG00000061525
Gene Name RIKEN cDNA 4921509C19 gene
Synonyms LOC381389
MMRRC Submission 039510-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1455 (G1)
Quality Score 217
Status Not validated
Chromosome 2
Chromosomal Location 151312462-151318073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151314824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 285 (N285D)
Ref Sequence ENSEMBL: ENSMUSP00000079030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080132]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000080132
AA Change: N285D

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: N285D

DomainStartEndE-ValueType
S_TKc 24 271 2.18e-97 SMART
low complexity region 430 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155885
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T G 8: 25,483,125 (GRCm39) M227L probably benign Het
Ankrd35 A G 3: 96,585,471 (GRCm39) D21G probably damaging Het
Arhgap32 C T 9: 32,171,381 (GRCm39) A1387V probably benign Het
Atg4d T A 9: 21,182,097 (GRCm39) V306E probably damaging Het
Brsk1 G A 7: 4,707,250 (GRCm39) V268M probably damaging Het
Cfap300 T G 9: 8,022,457 (GRCm39) N255T probably benign Het
Clec4a4 A G 6: 122,989,758 (GRCm39) E133G possibly damaging Het
Col24a1 T A 3: 145,166,593 (GRCm39) L1076H probably damaging Het
Ddah1 G T 3: 145,594,864 (GRCm39) R208L probably benign Het
Dysf A G 6: 84,090,368 (GRCm39) N960S probably benign Het
Egln2 A G 7: 26,859,796 (GRCm39) Y306H probably damaging Het
Fgfr1 T C 8: 26,052,292 (GRCm39) V293A possibly damaging Het
Gja3 A G 14: 57,273,842 (GRCm39) Y177H probably damaging Het
Glul T A 1: 153,782,845 (GRCm39) probably null Het
Gprc5a G A 6: 135,056,245 (GRCm39) V231I probably benign Het
Kdm4d C A 9: 14,375,691 (GRCm39) A56S probably damaging Het
Lingo4 G A 3: 94,306,699 (GRCm39) probably benign Het
Map6 A G 7: 98,917,421 (GRCm39) T65A probably damaging Het
Mmrn2 T C 14: 34,121,089 (GRCm39) I653T probably benign Het
Ndufa12 A G 10: 94,039,176 (GRCm39) T70A probably benign Het
Nfe2l3 C A 6: 51,434,744 (GRCm39) P435T possibly damaging Het
Npc1l1 A T 11: 6,178,174 (GRCm39) V412E possibly damaging Het
Or51a39 A T 7: 102,363,205 (GRCm39) Y138* probably null Het
Or6aa1 A T 7: 86,043,803 (GRCm39) F301Y probably damaging Het
Pcnx1 T C 12: 82,020,008 (GRCm39) F1344L probably damaging Het
Pi4ka A G 16: 17,181,818 (GRCm39) V297A probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel7 T C 2: 87,320,067 (GRCm39) T409A probably benign Het
Proc C G 18: 32,256,451 (GRCm39) M405I probably damaging Het
Serinc2 C A 4: 130,158,133 (GRCm39) A105S probably damaging Het
Slc4a10 G T 2: 62,117,274 (GRCm39) K744N probably damaging Het
Spdye4c A T 2: 128,438,478 (GRCm39) I279F probably damaging Het
Srcap G T 7: 127,129,822 (GRCm39) R568L probably damaging Het
Stag3 T A 5: 138,309,997 (GRCm39) M1215K probably benign Het
Tenm3 C T 8: 48,732,083 (GRCm39) A1274T possibly damaging Het
Tet2 A G 3: 133,179,406 (GRCm39) V1253A possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trip12 T C 1: 84,736,821 (GRCm39) I800V probably benign Het
Zfc3h1 T C 10: 115,248,013 (GRCm39) I1072T probably benign Het
Zfp148 T A 16: 33,315,835 (GRCm39) probably null Het
Zfp941 A G 7: 140,392,687 (GRCm39) V224A probably benign Het
Other mutations in 4921509C19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:4921509C19Rik APN 2 151,315,453 (GRCm39) missense possibly damaging 0.46
IGL02117:4921509C19Rik APN 2 151,315,466 (GRCm39) missense probably benign 0.10
IGL02432:4921509C19Rik APN 2 151,314,481 (GRCm39) missense probably benign 0.18
IGL03025:4921509C19Rik APN 2 151,315,405 (GRCm39) missense possibly damaging 0.82
R0321:4921509C19Rik UTSW 2 151,314,620 (GRCm39) missense probably benign 0.01
R0961:4921509C19Rik UTSW 2 151,314,686 (GRCm39) missense probably benign 0.01
R1272:4921509C19Rik UTSW 2 151,313,977 (GRCm39) missense probably damaging 0.98
R3177:4921509C19Rik UTSW 2 151,314,020 (GRCm39) missense possibly damaging 0.65
R3277:4921509C19Rik UTSW 2 151,314,020 (GRCm39) missense possibly damaging 0.65
R4206:4921509C19Rik UTSW 2 151,315,435 (GRCm39) missense probably benign 0.44
R4655:4921509C19Rik UTSW 2 151,314,778 (GRCm39) missense probably benign 0.03
R4680:4921509C19Rik UTSW 2 151,315,390 (GRCm39) missense probably damaging 1.00
R4684:4921509C19Rik UTSW 2 151,313,791 (GRCm39) missense unknown
R4702:4921509C19Rik UTSW 2 151,314,509 (GRCm39) missense probably benign 0.00
R4867:4921509C19Rik UTSW 2 151,314,742 (GRCm39) nonsense probably null
R4962:4921509C19Rik UTSW 2 151,314,728 (GRCm39) missense possibly damaging 0.78
R5117:4921509C19Rik UTSW 2 151,314,460 (GRCm39) missense probably benign 0.00
R5484:4921509C19Rik UTSW 2 151,313,851 (GRCm39) missense probably benign
R5602:4921509C19Rik UTSW 2 151,315,459 (GRCm39) missense possibly damaging 0.83
R6374:4921509C19Rik UTSW 2 151,314,800 (GRCm39) missense possibly damaging 0.47
R6894:4921509C19Rik UTSW 2 151,315,227 (GRCm39) missense probably damaging 1.00
R7079:4921509C19Rik UTSW 2 151,315,198 (GRCm39) missense probably damaging 1.00
R7109:4921509C19Rik UTSW 2 151,315,673 (GRCm39) missense probably damaging 1.00
R7155:4921509C19Rik UTSW 2 151,315,489 (GRCm39) missense possibly damaging 0.69
R7441:4921509C19Rik UTSW 2 151,314,845 (GRCm39) missense possibly damaging 0.51
R7845:4921509C19Rik UTSW 2 151,314,229 (GRCm39) missense probably damaging 0.96
R7853:4921509C19Rik UTSW 2 151,315,600 (GRCm39) missense probably damaging 1.00
R8773:4921509C19Rik UTSW 2 151,314,062 (GRCm39) missense possibly damaging 0.91
R8805:4921509C19Rik UTSW 2 151,313,285 (GRCm39) splice site probably benign
R8983:4921509C19Rik UTSW 2 151,313,272 (GRCm39) missense unknown
R9257:4921509C19Rik UTSW 2 151,315,627 (GRCm39) missense probably benign 0.05
R9566:4921509C19Rik UTSW 2 151,314,226 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AGGCACACTAGATGCCCTCCTTAC -3'
(R):5'- GGCACCAAGATAATCATGGGCCAG -3'

Sequencing Primer
(F):5'- ACTAGATGCCCTCCTTACAGATG -3'
(R):5'- TGCCCCAGAACTGTTTGAAG -3'
Posted On 2014-03-14