Incidental Mutation 'R7328:4933427D14Rik'
ID 569063
Institutional Source Beutler Lab
Gene Symbol 4933427D14Rik
Ensembl Gene ENSMUSG00000020807
Gene Name RIKEN cDNA 4933427D14 gene
Synonyms Gm43951
MMRRC Submission 045421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 72044755-72098308 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to G at 72060606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000108506
SMART Domains Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
Pfam:DUF4673 1 954 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131546
SMART Domains Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807

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 benign
Transcript: ENSMUST00000142530
SMART Domains Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,241,545 (GRCm39) V1136E probably benign Het
Arl4c C A 1: 88,629,239 (GRCm39) E50* probably null Het
Atxn7l1 T C 12: 33,198,502 (GRCm39) probably null Het
Ctdsp1 A T 1: 74,433,199 (GRCm39) I115F probably damaging Het
Cyp2j5 A G 4: 96,551,450 (GRCm39) V91A probably damaging Het
Dscam T A 16: 96,446,235 (GRCm39) K1469* probably null Het
Elf2 A G 3: 51,174,198 (GRCm39) C110R probably damaging Het
Ephb1 A G 9: 102,072,438 (GRCm39) Y114H probably damaging Het
Ephb2 C T 4: 136,386,245 (GRCm39) probably null Het
Fbxw20 C A 9: 109,061,383 (GRCm39) C122F probably damaging Het
Flnb T C 14: 7,883,788 (GRCm38) I338T possibly damaging Het
Flnb T A 14: 7,894,660 (GRCm38) Y819* probably null Het
Foxo3 A T 10: 42,073,258 (GRCm39) S420T probably benign Het
Herpud1 T C 8: 95,113,248 (GRCm39) V10A possibly damaging Het
Hmcn1 A T 1: 150,514,617 (GRCm39) V3585E possibly damaging Het
Hsdl1 T C 8: 120,292,830 (GRCm39) T202A probably benign Het
Htr1d G A 4: 136,170,614 (GRCm39) S281N probably benign Het
Igkv14-111 T A 6: 68,233,709 (GRCm39) I70N probably damaging Het
Igkv8-34 A G 6: 70,021,328 (GRCm39) S45P probably damaging Het
Inha T C 1: 75,486,760 (GRCm39) Y352H probably damaging Het
Lats1 A T 10: 7,581,311 (GRCm39) M699L possibly damaging Het
Marchf9 T C 10: 126,894,165 (GRCm39) E146G probably damaging Het
Mcm8 T C 2: 132,674,777 (GRCm39) V443A probably benign Het
Melk A T 4: 44,332,931 (GRCm39) S296C probably benign Het
Myo18a T C 11: 77,698,737 (GRCm39) S4P Het
Myof T C 19: 37,904,847 (GRCm39) Y1646C probably damaging Het
Noc4l C A 5: 110,796,789 (GRCm39) A498S possibly damaging Het
Nrxn3 T C 12: 88,762,345 (GRCm39) S131P probably benign Het
Or5ae2 T C 7: 84,506,507 (GRCm39) I312T probably benign Het
Or5ak23 A G 2: 85,244,668 (GRCm39) I185T probably benign Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or8g23 T C 9: 38,971,857 (GRCm39) Y35C probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Phldb2 T A 16: 45,578,572 (GRCm39) probably null Het
Polr2b C T 5: 77,463,846 (GRCm39) P81L probably damaging Het
Rbfa C A 18: 80,236,454 (GRCm39) G215C probably benign Het
Rdh19 T C 10: 127,692,896 (GRCm39) S188P probably damaging Het
Scn9a T C 2: 66,314,931 (GRCm39) M1596V probably benign Het
Sele A T 1: 163,876,844 (GRCm39) Y40F probably benign Het
Setd1b T A 5: 123,290,442 (GRCm39) V803D unknown Het
Siglecf C T 7: 43,001,691 (GRCm39) T167I possibly damaging Het
Slc39a6 T C 18: 24,733,987 (GRCm39) E234G probably benign Het
Slco1a1 T A 6: 141,882,134 (GRCm39) D145V possibly damaging Het
Son G A 16: 91,455,278 (GRCm39) V1342I probably benign Het
Sybu G A 15: 44,651,190 (GRCm39) P38L not run Het
Taf15 C T 11: 83,375,658 (GRCm39) T41M possibly damaging Het
Tm4sf4 A T 3: 57,333,925 (GRCm39) N71Y probably benign Het
Tm7sf2 C T 19: 6,114,156 (GRCm39) V226I possibly damaging Het
Trim66 C A 7: 109,056,958 (GRCm39) Q1066H probably damaging Het
Tyw1 T C 5: 130,291,685 (GRCm39) V51A probably benign Het
Vav3 A T 3: 109,410,744 (GRCm39) I192L 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
R0114:4933427D14Rik UTSW 11 72,086,625 (GRCm39) missense probably damaging 1.00
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
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'- AAGCAATGATTCTCCTGAAACAGAG -3'
(R):5'- TTTGCCCTTACCTGGAGGAG -3'

Sequencing Primer
(F):5'- TTCTCCTGAAACAGAGGATATGTGG -3'
(R):5'- CCCTTACCTGGAGGAGTTACATG -3'
Posted On 2019-09-13