Incidental Mutation 'IGL00516:5730455P16Rik'
ID 6036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5730455P16Rik
Ensembl Gene ENSMUSG00000057181
Gene Name RIKEN cDNA 5730455P16 gene
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # IGL00516
Quality Score
Status
Chromosome 11
Chromosomal Location 80251318-80268860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80267638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000120606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103225] [ENSMUST00000134274] [ENSMUST00000179332]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103225
AA Change: D71G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099515
Gene: ENSMUSG00000057181
AA Change: D71G

DomainStartEndE-ValueType
low complexity region 7 31 N/A INTRINSIC
Pfam:Njmu-R1 38 390 1.5e-204 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134274
AA Change: D91G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120606
Gene: ENSMUSG00000057181
AA Change: D91G

DomainStartEndE-ValueType
low complexity region 26 58 N/A INTRINSIC
Pfam:Njmu-R1 62 214 1.6e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179332
AA Change: D71G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135972
Gene: ENSMUSG00000057181
AA Change: D71G

DomainStartEndE-ValueType
low complexity region 7 31 N/A INTRINSIC
Pfam:Njmu-R1 38 391 5.9e-231 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,231,176 (GRCm39) L438* probably null Het
Asph A T 4: 9,639,322 (GRCm39) N14K probably damaging Het
Baz1b T C 5: 135,245,444 (GRCm39) Y298H probably damaging Het
Ccdc66 A T 14: 27,220,413 (GRCm39) W267R probably damaging Het
Cd81 A C 7: 142,620,901 (GRCm39) K193N probably damaging Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Cflar T C 1: 58,771,469 (GRCm39) I199T probably benign Het
Cmya5 A G 13: 93,234,675 (GRCm39) S138P possibly damaging Het
Cnot1 T C 8: 96,452,707 (GRCm39) N2123S probably damaging Het
Crybg3 A G 16: 59,350,803 (GRCm39) S846P probably benign Het
Cyp2d9 A G 15: 82,339,295 (GRCm39) I21M probably benign Het
Ddx41 T C 13: 55,680,280 (GRCm39) T371A probably damaging Het
Dnhd1 A T 7: 105,306,418 (GRCm39) I425F possibly damaging Het
Dsc1 T C 18: 20,234,943 (GRCm39) D237G probably damaging Het
Emc1 T C 4: 139,082,393 (GRCm39) probably benign Het
Epc1 T A 18: 6,450,515 (GRCm39) D367V probably damaging Het
Glp1r A G 17: 31,144,532 (GRCm39) Y235C probably damaging Het
Helb A G 10: 119,941,329 (GRCm39) V453A probably damaging Het
Hras A G 7: 140,772,783 (GRCm39) I24T possibly damaging Het
Hsf2 A T 10: 57,388,124 (GRCm39) I423L probably benign Het
Igkv2-109 T A 6: 68,280,054 (GRCm39) S92T probably benign Het
Kiss1r G A 10: 79,754,550 (GRCm39) A15T possibly damaging Het
Krt79 T C 15: 101,848,601 (GRCm39) S17G probably damaging Het
Lrrc14b T C 13: 74,509,078 (GRCm39) D443G probably damaging Het
Map4k4 T A 1: 40,053,762 (GRCm39) V953E probably damaging Het
Mybpc2 G A 7: 44,154,829 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,530 (GRCm39) E173G probably damaging Het
Neurl4 C T 11: 69,801,219 (GRCm39) R1199W probably damaging Het
Otog T A 7: 45,900,706 (GRCm39) V333E probably damaging Het
Pdcd2l A T 7: 33,884,246 (GRCm39) probably null Het
Plagl1 A G 10: 13,003,616 (GRCm39) probably benign Het
Rbm34 T C 8: 127,696,736 (GRCm39) N122S probably benign Het
Shank2 A G 7: 143,964,512 (GRCm39) K917E possibly damaging Het
Slc17a8 T C 10: 89,427,157 (GRCm39) K315E possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Sytl2 A G 7: 90,022,113 (GRCm39) T183A probably benign Het
Tnik T A 3: 28,708,367 (GRCm39) I1067N probably damaging Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trhde A T 10: 114,282,104 (GRCm39) I791N probably benign Het
Ttc28 A T 5: 111,373,554 (GRCm39) N966Y probably damaging Het
Vps13b A T 15: 35,640,703 (GRCm39) D1356V probably damaging Het
Zmym2 A G 14: 57,185,394 (GRCm39) probably benign Het
Other mutations in 5730455P16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03096:5730455P16Rik APN 11 80,265,005 (GRCm39) missense probably damaging 1.00
PIT4431001:5730455P16Rik UTSW 11 80,254,750 (GRCm39) missense probably damaging 1.00
R0383:5730455P16Rik UTSW 11 80,254,767 (GRCm39) nonsense probably null
R0635:5730455P16Rik UTSW 11 80,264,891 (GRCm39) splice site probably benign
R1376:5730455P16Rik UTSW 11 80,254,735 (GRCm39) missense possibly damaging 0.90
R1376:5730455P16Rik UTSW 11 80,254,735 (GRCm39) missense possibly damaging 0.90
R1598:5730455P16Rik UTSW 11 80,254,838 (GRCm39) nonsense probably null
R1953:5730455P16Rik UTSW 11 80,268,772 (GRCm39) missense probably damaging 1.00
R3236:5730455P16Rik UTSW 11 80,258,996 (GRCm39) missense probably damaging 1.00
R4056:5730455P16Rik UTSW 11 80,266,329 (GRCm39) splice site probably benign
R4612:5730455P16Rik UTSW 11 80,268,806 (GRCm39) start codon destroyed probably null 0.90
R4777:5730455P16Rik UTSW 11 80,265,041 (GRCm39) missense probably damaging 1.00
R4820:5730455P16Rik UTSW 11 80,266,346 (GRCm39) missense possibly damaging 0.63
R4847:5730455P16Rik UTSW 11 80,264,940 (GRCm39) missense probably damaging 1.00
R5489:5730455P16Rik UTSW 11 80,268,778 (GRCm39) start codon destroyed probably null
R7125:5730455P16Rik UTSW 11 80,255,751 (GRCm39) missense probably damaging 0.97
R8049:5730455P16Rik UTSW 11 80,268,798 (GRCm39) missense possibly damaging 0.86
R9600:5730455P16Rik UTSW 11 80,261,197 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20