Incidental Mutation 'R3236:5730455P16Rik'
ID 259046
Institutional Source Beutler Lab
Gene Symbol 5730455P16Rik
Ensembl Gene ENSMUSG00000057181
Gene Name RIKEN cDNA 5730455P16 gene
Synonyms
MMRRC Submission 040618-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R3236 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 80251318-80268860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80258996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 255 (L255F)
Ref Sequence ENSEMBL: ENSMUSP00000135972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103225] [ENSMUST00000134274] [ENSMUST00000179332]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000103225
AA Change: L255F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099515
Gene: ENSMUSG00000057181
AA Change: L255F

DomainStartEndE-ValueType
low complexity region 7 31 N/A INTRINSIC
Pfam:Njmu-R1 38 390 1.5e-204 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134274
SMART Domains Protein: ENSMUSP00000120606
Gene: ENSMUSG00000057181

DomainStartEndE-ValueType
low complexity region 26 58 N/A INTRINSIC
Pfam:Njmu-R1 62 214 1.6e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149614
Predicted Effect probably damaging
Transcript: ENSMUST00000179332
AA Change: L255F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135972
Gene: ENSMUSG00000057181
AA Change: L255F

DomainStartEndE-ValueType
low complexity region 7 31 N/A INTRINSIC
Pfam:Njmu-R1 38 391 5.9e-231 PFAM
Meta Mutation Damage Score 0.7404 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Armh3 A T 19: 45,963,722 (GRCm39) probably benign Het
Atm T A 9: 53,391,048 (GRCm39) D1842V probably benign Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccdc88a A G 11: 29,397,995 (GRCm39) T243A possibly damaging Het
Col5a3 G T 9: 20,718,949 (GRCm39) N268K unknown Het
Col6a1 G A 10: 76,547,154 (GRCm39) T737M unknown Het
Cyp3a25 T C 5: 145,939,938 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Ecm1 G T 3: 95,642,158 (GRCm39) Q476K possibly damaging Het
Eml6 A G 11: 29,781,097 (GRCm39) probably null Het
Fbh1 T C 2: 11,774,637 (GRCm39) D36G probably damaging Het
Fyb1 A C 15: 6,659,597 (GRCm39) D434A probably damaging Het
Gm5478 A G 15: 101,552,738 (GRCm39) Y398H probably damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hk1 T C 10: 62,131,798 (GRCm39) probably null Het
Kdm6b A G 11: 69,297,192 (GRCm39) Y387H probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lrig3 G A 10: 125,833,056 (GRCm39) C310Y probably damaging Het
Map6 T A 7: 98,986,031 (GRCm39) V645E probably damaging Het
Memo1 A T 17: 74,509,347 (GRCm39) I224K probably damaging Het
Morc2a T C 11: 3,633,612 (GRCm39) I602T probably benign Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Ndrg3 T A 2: 156,785,957 (GRCm39) I161F probably damaging Het
Notch3 T C 17: 32,377,435 (GRCm39) R214G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or14j10 T C 17: 37,935,127 (GRCm39) E133G possibly damaging Het
Or4p7 T C 2: 88,221,750 (GRCm39) I53T probably benign Het
Pdgfra T C 5: 75,328,597 (GRCm39) V243A probably damaging Het
Piwil4 A G 9: 14,611,544 (GRCm39) probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pon2 A T 6: 5,266,986 (GRCm39) N252K possibly damaging Het
Ptf1a T C 2: 19,450,718 (GRCm39) F16S probably damaging Het
Rasgrp1 A G 2: 117,122,293 (GRCm39) Y366H probably benign Het
Rbfox1 G A 16: 7,225,892 (GRCm39) V353I possibly damaging Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scaf4 T A 16: 90,057,105 (GRCm39) D82V unknown Het
Serhl C A 15: 82,988,604 (GRCm39) P177Q probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Sf3b3 A G 8: 111,538,652 (GRCm39) S1123P probably damaging Het
Slc1a3 T C 15: 8,668,607 (GRCm39) I453V probably damaging Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Snrnp200 T A 2: 127,063,802 (GRCm39) D660E probably damaging Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
Speer4e1 T A 5: 14,984,939 (GRCm39) E206D possibly damaging Het
Stard6 T A 18: 70,633,557 (GRCm39) M188K probably damaging Het
Stat6 G A 10: 127,488,091 (GRCm39) V282I possibly damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Thsd4 C A 9: 60,301,670 (GRCm39) K208N probably benign Het
Thsd7b C T 1: 130,145,855 (GRCm39) Q1588* probably null Het
Tmem167 C T 13: 90,252,499 (GRCm39) R52C probably benign Het
Ttn T C 2: 76,729,753 (GRCm39) probably benign Het
Usp39 G A 6: 72,315,372 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r24 C T 6: 123,755,984 (GRCm39) Q19* probably null Het
Vps13b G A 15: 35,910,450 (GRCm39) E3405K probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably damaging Het
Other mutations in 5730455P16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:5730455P16Rik APN 11 80,267,638 (GRCm39) missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- GGACACGTCTGTATCTTGTGC -3'
(R):5'- CACTCCTGTTGAATTTAAAGAGTCG -3'

Sequencing Primer
(F):5'- GCTTTCTGTGCAAGAGGTCCAC -3'
(R):5'- TTTAATCCCAGCACTTAGGAGGCAG -3'
Posted On 2015-01-23