Incidental Mutation 'IGL01643:4933427D14Rik'
ID 93595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933427D14Rik
Ensembl Gene ENSMUSG00000020807
Gene Name RIKEN cDNA 4933427D14 gene
Synonyms Gm43951
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01643
Quality Score
Status
Chromosome 11
Chromosomal Location 72044755-72098308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72082414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 304 (R304Q)
Ref Sequence ENSEMBL: ENSMUSP00000104146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108505] [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000108505
SMART Domains Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807

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: R304Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: R304Q

DomainStartEndE-ValueType
Pfam:DUF4673 1 954 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131546
AA Change: R304Q

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807
AA Change: R304Q

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
AA Change: R304Q

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807
AA Change: R304Q

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T A 18: 61,884,897 (GRCm39) E196V probably damaging Het
Bmp5 A T 9: 75,746,895 (GRCm39) D251V probably damaging Het
Ccser1 A G 6: 61,288,839 (GRCm39) H334R probably benign Het
Crnkl1 A G 2: 145,773,268 (GRCm39) M126T probably damaging Het
Ddrgk1 T C 2: 130,500,214 (GRCm39) probably benign Het
Dpy19l4 T C 4: 11,290,184 (GRCm39) probably benign Het
Eral1 A G 11: 77,965,104 (GRCm39) probably null Het
Ereg T A 5: 91,234,637 (GRCm39) S17T probably benign Het
Fgfr1 T A 8: 26,056,751 (GRCm39) M280K probably benign Het
Gpr65 A G 12: 98,242,013 (GRCm39) E222G probably damaging Het
Grid1 G T 14: 35,045,392 (GRCm39) probably null Het
Hspa12b A G 2: 130,984,617 (GRCm39) T329A probably damaging Het
Inpp4b A G 8: 82,798,400 (GRCm39) I863V probably damaging Het
Kash5 A T 7: 44,849,710 (GRCm39) M71K probably damaging Het
Krt8 G T 15: 101,905,508 (GRCm39) S447Y possibly damaging Het
Lama2 T A 10: 26,946,368 (GRCm39) probably benign Het
Lama4 A C 10: 38,932,846 (GRCm39) N574T probably benign Het
Lig3 T C 11: 82,689,118 (GRCm39) S791P probably damaging Het
Oas2 A T 5: 120,874,252 (GRCm39) probably benign Het
Or4c12b A T 2: 89,647,017 (GRCm39) I116F probably damaging Het
Pdk1 A G 2: 71,728,049 (GRCm39) D370G probably damaging Het
Popdc3 T A 10: 45,190,976 (GRCm39) I29N probably damaging Het
Rbp3 A T 14: 33,678,793 (GRCm39) I914F probably benign Het
Rnf207 C T 4: 152,402,718 (GRCm39) probably benign Het
Ryr2 T A 13: 11,707,563 (GRCm39) I2825F possibly damaging Het
Slc37a2 A T 9: 37,146,849 (GRCm39) probably benign Het
Vps8 T C 16: 21,336,972 (GRCm39) V791A possibly damaging Het
Wdr64 T C 1: 175,599,877 (GRCm39) L127P probably damaging Het
Whrn T C 4: 63,334,672 (GRCm39) T368A possibly damaging Het
Other mutations in 4933427D14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00707:4933427D14Rik APN 11 72,069,330 (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
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
Posted On 2013-12-09