Incidental Mutation 'R0114:4933427D14Rik'
ID 20671
Institutional Source Beutler Lab
Gene Symbol 4933427D14Rik
Ensembl Gene ENSMUSG00000020807
Gene Name RIKEN cDNA 4933427D14 gene
Synonyms Gm43951
MMRRC Submission 038400-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0114 (G1)
Quality Score 114
Status Validated (trace)
Chromosome 11
Chromosomal Location 72044755-72098308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72086625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 262 (Y262C)
Ref Sequence ENSEMBL: ENSMUSP00000115276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108505] [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000108505
AA Change: Y262C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807
AA Change: Y262C

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108506
AA Change: Y262C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: Y262C

DomainStartEndE-ValueType
Pfam:DUF4673 1 954 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131546
AA Change: Y262C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807
AA Change: Y262C

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
low complexity region 360 377 N/A INTRINSIC
low complexity region 545 559 N/A INTRINSIC
coiled coil region 625 653 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000142530
AA Change: Y262C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807
AA Change: Y262C

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154093
Meta Mutation Damage Score 0.7455 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 79.2%
Validation Efficiency 100% (99/99)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,861,978 (GRCm39) probably benign Het
Adamts1 C A 16: 85,596,502 (GRCm39) V379L probably benign Het
Akt3 T C 1: 176,894,817 (GRCm39) D260G probably damaging Het
Alms1 T C 6: 85,596,785 (GRCm39) L537P probably benign Het
Anln A T 9: 22,264,642 (GRCm39) I876N probably damaging Het
Ano9 A T 7: 140,683,152 (GRCm39) probably benign Het
Arhgef10l T C 4: 140,311,194 (GRCm39) E218G probably benign Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Atp9a G T 2: 168,552,776 (GRCm39) Y63* probably null Het
Bmpr2 G T 1: 59,854,499 (GRCm39) C116F probably damaging Het
Cand1 T C 10: 119,052,427 (GRCm39) D233G probably benign Het
Cftr A T 6: 18,282,447 (GRCm39) H1049L probably damaging Het
Ckap5 A T 2: 91,450,457 (GRCm39) D1975V possibly damaging Het
Cyp26c1 T C 19: 37,675,081 (GRCm39) V134A probably benign Het
Dnai1 T C 4: 41,605,686 (GRCm39) probably benign Het
Dpp10 T C 1: 123,413,821 (GRCm39) I163V probably benign Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Fanca A T 8: 124,015,230 (GRCm39) probably null Het
Fes A G 7: 80,027,783 (GRCm39) V787A probably damaging Het
Fnip1 C T 11: 54,378,627 (GRCm39) probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gmds A T 13: 32,411,264 (GRCm39) S57T probably benign Het
Gnpat T G 8: 125,610,096 (GRCm39) D426E probably benign Het
Gnptab C A 10: 88,269,262 (GRCm39) P655Q possibly damaging Het
Gpi-ps A G 8: 5,690,359 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,369,128 (GRCm39) F2941I probably damaging Het
Herc2 T C 7: 55,803,522 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Itga11 T G 9: 62,642,575 (GRCm39) V166G probably damaging Het
Itga11 T C 9: 62,667,584 (GRCm39) V639A possibly damaging Het
Itpr2 A G 6: 146,214,377 (GRCm39) F1490S probably damaging Het
Lama2 C A 10: 26,869,064 (GRCm39) E802* probably null Het
Lgi3 C T 14: 70,768,469 (GRCm39) probably benign Het
Limch1 C T 5: 67,193,427 (GRCm39) probably benign Het
Lipc T C 9: 70,711,063 (GRCm39) N363S probably damaging Het
Lrit2 A G 14: 36,790,002 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mug2 A G 6: 122,017,607 (GRCm39) Y448C probably damaging Het
Mybpc3 A G 2: 90,954,839 (GRCm39) E450G probably damaging Het
Myo5b A T 18: 74,875,242 (GRCm39) T1549S probably benign Het
Naa15 T C 3: 51,355,859 (GRCm39) probably null Het
Nckap1l T A 15: 103,363,455 (GRCm39) C54S probably benign Het
Nlrp9b A G 7: 19,757,981 (GRCm39) D406G probably benign Het
Nprl3 T A 11: 32,189,784 (GRCm39) probably benign Het
Nvl A G 1: 180,947,956 (GRCm39) V429A probably benign Het
Opa1 A T 16: 29,448,453 (GRCm39) N912Y probably benign Het
Or14j3 A T 17: 37,900,306 (GRCm39) *313K probably null Het
Or1x2 G A 11: 50,918,431 (GRCm39) V201I probably benign Het
Or52b4i A T 7: 102,191,938 (GRCm39) Q265L probably benign Het
Or6c211 T A 10: 129,505,467 (GRCm39) Y307F probably benign Het
Pcnx1 T C 12: 82,042,869 (GRCm39) V2317A possibly damaging Het
Phf3 A T 1: 30,844,524 (GRCm39) N1478K possibly damaging Het
Phykpl G A 11: 51,477,480 (GRCm39) D91N probably benign Het
Polr2b T A 5: 77,491,110 (GRCm39) C984S probably damaging Het
Ppfibp1 A G 6: 146,899,731 (GRCm39) R141G probably benign Het
Ppm1d G A 11: 85,217,731 (GRCm39) G20R probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ppp2r5b C A 19: 6,278,461 (GRCm39) V483F probably benign Het
Ppp4r4 T A 12: 103,542,633 (GRCm39) C132S probably benign Het
Prg2 A G 2: 84,813,800 (GRCm39) probably benign Het
Prpf4b G A 13: 35,074,471 (GRCm39) probably benign Het
Rad54l2 T C 9: 106,590,654 (GRCm39) T491A probably damaging Het
Rnf213 G T 11: 119,305,413 (GRCm39) W548L probably damaging Het
Rusc2 G T 4: 43,422,055 (GRCm39) C825F probably damaging Het
Sema4b A G 7: 79,868,826 (GRCm39) probably benign Het
Sema6a A G 18: 47,423,244 (GRCm39) V254A probably damaging Het
Slc13a3 A G 2: 165,266,501 (GRCm39) F346L probably damaging Het
Slc25a17 T C 15: 81,222,160 (GRCm39) D104G probably damaging Het
Specc1 A T 11: 62,037,139 (GRCm39) N707Y possibly damaging Het
Tex48 T A 4: 63,526,696 (GRCm39) E76V probably damaging Het
Tfr2 T C 5: 137,575,727 (GRCm39) V281A probably benign Het
Tgfb1i1 A C 7: 127,848,666 (GRCm39) Q238H probably damaging Het
Thoc6 G A 17: 23,889,213 (GRCm39) T122I probably benign Het
Tmtc1 G A 6: 148,314,328 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 145,014,617 (GRCm39) D264G possibly damaging Het
Trim43a T A 9: 88,466,213 (GRCm39) I178N probably damaging Het
Ttn G C 2: 76,537,437 (GRCm39) I26503M possibly damaging Het
Usp28 C A 9: 48,950,323 (GRCm39) D589E probably benign Het
Utp23 T C 15: 51,745,907 (GRCm39) S242P probably damaging Het
Vwa3a A G 7: 120,374,603 (GRCm39) Y305C probably benign Het
Vwa5b1 C A 4: 138,336,169 (GRCm39) E142* probably null Het
Xrn2 A T 2: 146,871,699 (GRCm39) T374S probably damaging Het
Zfp735 A T 11: 73,601,488 (GRCm39) Q144L probably benign Het
Other mutations in 4933427D14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00707:4933427D14Rik APN 11 72,069,330 (GRCm39) missense probably damaging 1.00
IGL01643:4933427D14Rik APN 11 72,082,414 (GRCm39) missense probably damaging 1.00
IGL02004:4933427D14Rik APN 11 72,082,423 (GRCm39) missense possibly damaging 0.62
IGL02308:4933427D14Rik APN 11 72,093,308 (GRCm39) missense probably damaging 1.00
IGL02378:4933427D14Rik APN 11 72,080,424 (GRCm39) missense probably benign 0.02
IGL02715:4933427D14Rik APN 11 72,089,714 (GRCm39) missense probably damaging 1.00
IGL03330:4933427D14Rik APN 11 72,050,254 (GRCm39) missense probably damaging 1.00
IGL03384:4933427D14Rik APN 11 72,086,673 (GRCm39) missense possibly damaging 0.87
BB002:4933427D14Rik UTSW 11 72,071,327 (GRCm39) missense probably benign 0.31
BB012:4933427D14Rik UTSW 11 72,071,327 (GRCm39) missense probably benign 0.31
IGL03047:4933427D14Rik UTSW 11 72,057,552 (GRCm39) missense possibly damaging 0.74
R0526:4933427D14Rik UTSW 11 72,060,609 (GRCm39) missense probably damaging 1.00
R0653:4933427D14Rik UTSW 11 72,066,371 (GRCm39) nonsense probably null
R0669:4933427D14Rik UTSW 11 72,089,671 (GRCm39) missense possibly damaging 0.73
R0729:4933427D14Rik UTSW 11 72,050,281 (GRCm39) missense probably benign 0.07
R1797:4933427D14Rik UTSW 11 72,089,285 (GRCm39) missense possibly damaging 0.77
R3973:4933427D14Rik UTSW 11 72,089,567 (GRCm39) missense probably damaging 1.00
R4744:4933427D14Rik UTSW 11 72,066,365 (GRCm39) missense probably damaging 0.98
R4897:4933427D14Rik UTSW 11 72,082,342 (GRCm39) missense probably damaging 1.00
R5023:4933427D14Rik UTSW 11 72,057,581 (GRCm39) missense probably benign 0.07
R5057:4933427D14Rik UTSW 11 72,057,581 (GRCm39) missense probably benign 0.07
R5100:4933427D14Rik UTSW 11 72,057,477 (GRCm39) missense probably damaging 1.00
R5497:4933427D14Rik UTSW 11 72,056,360 (GRCm39) missense probably benign 0.22
R5556:4933427D14Rik UTSW 11 72,066,026 (GRCm39) splice site probably null
R5631:4933427D14Rik UTSW 11 72,067,590 (GRCm39) missense possibly damaging 0.71
R5683:4933427D14Rik UTSW 11 72,093,266 (GRCm39) missense probably benign
R5742:4933427D14Rik UTSW 11 72,056,379 (GRCm39) missense possibly damaging 0.63
R6247:4933427D14Rik UTSW 11 72,049,768 (GRCm39) missense probably benign 0.02
R6267:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
R6296:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
R6860:4933427D14Rik UTSW 11 72,080,412 (GRCm39) missense probably damaging 1.00
R7023:4933427D14Rik UTSW 11 72,069,229 (GRCm39) critical splice donor site probably null
R7328:4933427D14Rik UTSW 11 72,060,606 (GRCm39) critical splice donor site probably null
R7514:4933427D14Rik UTSW 11 72,086,628 (GRCm39) missense probably damaging 1.00
R7544:4933427D14Rik UTSW 11 72,089,765 (GRCm39) missense probably damaging 1.00
R7925:4933427D14Rik UTSW 11 72,071,327 (GRCm39) missense probably benign 0.31
R8204:4933427D14Rik UTSW 11 72,057,606 (GRCm39) missense probably benign 0.01
R8280:4933427D14Rik UTSW 11 72,086,667 (GRCm39) missense possibly damaging 0.70
R8316:4933427D14Rik UTSW 11 72,059,612 (GRCm39) missense possibly damaging 0.70
R8366:4933427D14Rik UTSW 11 72,067,521 (GRCm39) nonsense probably null
R8384:4933427D14Rik UTSW 11 72,057,591 (GRCm39) missense probably benign 0.08
R8722:4933427D14Rik UTSW 11 72,080,422 (GRCm39) missense probably benign 0.00
R8944:4933427D14Rik UTSW 11 72,049,851 (GRCm39) splice site probably benign
R9749:4933427D14Rik UTSW 11 72,080,521 (GRCm39) missense possibly damaging 0.95
X0063:4933427D14Rik UTSW 11 72,067,595 (GRCm39) missense probably benign
X0065:4933427D14Rik UTSW 11 72,080,401 (GRCm39) missense possibly damaging 0.65
Z1176:4933427D14Rik UTSW 11 72,049,826 (GRCm39) missense probably benign 0.12
Z1186:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1186:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1186:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1186:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1186:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1186:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1187:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1187:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1187:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1187:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1187:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1187:4933427D14Rik UTSW 11 72,086,536 (GRCm39) frame shift probably null
Z1187:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1187:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1187:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1187:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1188:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1188:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1188:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1188:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1188:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1188:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1188:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1188:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1188:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1189:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1189:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1189:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1189:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1189:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1190:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1190:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1190:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1190:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1190:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1190:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1191:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1191:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1191:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1191:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1191:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1191:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1192:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1192:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1192:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1192:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1192:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1192:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACTCAGGGTCACATGTACAAGCAC -3'
(R):5'- TTAAGTCCGCTAAGGCAGCCTCTC -3'

Sequencing Primer
(F):5'- GGTCACATGTACAAGCACTTTTTC -3'
(R):5'- GTTTCCTTAGTAAGACACGTCAGC -3'
Posted On 2013-04-11