Incidental Mutation 'R6345:AY358078'
ID 514127
Institutional Source Beutler Lab
Gene Symbol AY358078
Ensembl Gene ENSMUSG00000050961
Gene Name cDNA sequence AY358078
Synonyms
MMRRC Submission 044499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6345 (G1)
Quality Score 196.009
Status Validated
Chromosome 14
Chromosomal Location 52037503-52063816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 52063749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 465 (Y465S)
Ref Sequence ENSEMBL: ENSMUSP00000078129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053821]
AlphaFold Q6UY53
Predicted Effect probably damaging
Transcript: ENSMUST00000053821
AA Change: Y465S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: Y465S

DomainStartEndE-ValueType
Pfam:Takusan 91 171 5.5e-26 PFAM
coiled coil region 187 220 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167221
Meta Mutation Damage Score 0.5786 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,913 (GRCm39) I121T probably benign Het
4921524L21Rik T A 18: 6,626,399 (GRCm39) M137K possibly damaging Het
Angpt4 C A 2: 151,771,354 (GRCm39) N223K probably benign Het
Ankrd6 T C 4: 32,810,266 (GRCm39) R437G probably damaging Het
Atp9a C T 2: 168,518,093 (GRCm39) S264N probably damaging Het
Bin3 G A 14: 70,374,676 (GRCm39) R235Q probably benign Het
Bsn G A 9: 107,984,554 (GRCm39) P3167S unknown Het
Camk2g G A 14: 20,787,443 (GRCm39) R274C probably damaging Het
Ccdc61 A T 7: 18,643,914 (GRCm39) probably null Het
Ccnjl A T 11: 43,476,165 (GRCm39) T263S probably benign Het
Col17a1 G T 19: 47,641,818 (GRCm39) P944T possibly damaging Het
Cyp2c39 A T 19: 39,501,615 (GRCm39) probably null Het
Cyp2c39 G T 19: 39,501,616 (GRCm39) probably null Het
Cyp4a32 T C 4: 115,459,560 (GRCm39) V98A possibly damaging Het
Dnah9 A G 11: 65,928,519 (GRCm39) V2050A probably damaging Het
F5 A G 1: 164,019,520 (GRCm39) N665S probably benign Het
Fbxl6 A T 15: 76,420,054 (GRCm39) C520S probably damaging Het
Fscn2 C A 11: 120,252,853 (GRCm39) H107N probably damaging Het
Gfm2 C T 13: 97,299,461 (GRCm39) T367M probably damaging Het
Gle1 C G 2: 29,826,127 (GRCm39) P69A probably benign Het
Gpr156 A T 16: 37,807,881 (GRCm39) D176V probably damaging Het
Grip2 A G 6: 91,742,369 (GRCm39) S895P possibly damaging Het
Hfm1 C T 5: 106,989,504 (GRCm39) G1404D probably benign Het
Ifit1bl1 G A 19: 34,571,570 (GRCm39) R296* probably null Het
Ighv1-39 C T 12: 114,878,479 (GRCm39) V31M possibly damaging Het
Itgav A G 2: 83,632,380 (GRCm39) E956G probably damaging Het
Katnip C A 7: 125,352,159 (GRCm39) D26E probably damaging Het
Lsm8 A G 6: 18,853,644 (GRCm39) D86G probably damaging Het
Mdh1b T G 1: 63,754,398 (GRCm39) H390P possibly damaging Het
Mtrf1l A T 10: 5,767,468 (GRCm39) I216N possibly damaging Het
Muc16 G A 9: 18,566,222 (GRCm39) T2099I unknown Het
Myh7 T C 14: 55,221,149 (GRCm39) R925G probably damaging Het
Myo1h T A 5: 114,489,769 (GRCm39) I658N probably damaging Het
Myo5a A T 9: 75,097,195 (GRCm39) D81V possibly damaging Het
Nell1 G A 7: 49,625,171 (GRCm39) C12Y possibly damaging Het
Obscn T C 11: 58,944,522 (GRCm39) Y4724C probably damaging Het
Or8k53 A G 2: 86,177,892 (GRCm39) Y73H probably damaging Het
Pah G A 10: 87,412,049 (GRCm39) D315N probably damaging Het
Per2 A G 1: 91,376,444 (GRCm39) V143A probably damaging Het
Plcxd1 T C 5: 110,248,165 (GRCm39) V38A probably benign Het
Pld1 A G 3: 28,184,896 (GRCm39) probably benign Het
Plekhh2 A G 17: 84,883,215 (GRCm39) N761S probably benign Het
Polh T C 17: 46,493,664 (GRCm39) I318V probably benign Het
Prex1 T C 2: 166,414,880 (GRCm39) Q1323R probably null Het
Rb1cc1 T A 1: 6,333,481 (GRCm39) S1440T probably benign Het
Rbm19 G T 5: 120,265,105 (GRCm39) W382L possibly damaging Het
Rchy1 T C 5: 92,105,801 (GRCm39) D49G probably benign Het
Ric1 A G 19: 29,581,485 (GRCm39) D1402G probably benign Het
S1pr3 G T 13: 51,573,067 (GRCm39) A83S probably damaging Het
S1pr3 C A 13: 51,573,068 (GRCm39) A83D probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpinb9c T C 13: 33,333,978 (GRCm39) R355G probably damaging Het
Slx4 G C 16: 3,808,714 (GRCm39) Q409E probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Specc1l G T 10: 75,084,322 (GRCm39) D682Y probably damaging Het
Spen C T 4: 141,198,944 (GRCm39) V3228I possibly damaging Het
Strip1 T C 3: 107,535,516 (GRCm39) E69G probably damaging Het
Tasp1 C A 2: 139,793,457 (GRCm39) V240L probably damaging Het
Tdrd9 T A 12: 112,001,042 (GRCm39) F787L probably damaging Het
Vmn1r228 A G 17: 20,997,144 (GRCm39) S125P probably damaging Het
Wdhd1 A G 14: 47,489,379 (GRCm39) M718T probably damaging Het
Other mutations in AY358078
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:AY358078 APN 14 52,043,166 (GRCm39) splice site probably benign
IGL02053:AY358078 APN 14 52,043,009 (GRCm39) missense unknown
IGL02057:AY358078 APN 14 52,057,762 (GRCm39) missense unknown
IGL02498:AY358078 APN 14 52,040,944 (GRCm39) missense probably benign 0.00
FR4737:AY358078 UTSW 14 52,043,155 (GRCm39) missense unknown
R0140:AY358078 UTSW 14 52,063,399 (GRCm39) missense probably benign 0.12
R0466:AY358078 UTSW 14 52,043,089 (GRCm39) missense unknown
R0496:AY358078 UTSW 14 52,040,989 (GRCm39) missense unknown
R1546:AY358078 UTSW 14 52,057,876 (GRCm39) splice site probably null
R1793:AY358078 UTSW 14 52,042,051 (GRCm39) missense unknown
R1867:AY358078 UTSW 14 52,037,504 (GRCm39) start codon destroyed probably null 0.01
R1993:AY358078 UTSW 14 52,063,519 (GRCm39) missense probably damaging 1.00
R1994:AY358078 UTSW 14 52,063,519 (GRCm39) missense probably damaging 1.00
R1995:AY358078 UTSW 14 52,063,519 (GRCm39) missense probably damaging 1.00
R2184:AY358078 UTSW 14 52,063,445 (GRCm39) missense probably damaging 1.00
R2322:AY358078 UTSW 14 52,042,147 (GRCm39) missense unknown
R2441:AY358078 UTSW 14 52,037,546 (GRCm39) missense probably benign 0.00
R3851:AY358078 UTSW 14 52,043,010 (GRCm39) missense unknown
R3852:AY358078 UTSW 14 52,043,010 (GRCm39) missense unknown
R4600:AY358078 UTSW 14 52,063,532 (GRCm39) missense possibly damaging 0.89
R4603:AY358078 UTSW 14 52,063,532 (GRCm39) missense possibly damaging 0.89
R4610:AY358078 UTSW 14 52,063,532 (GRCm39) missense possibly damaging 0.89
R4611:AY358078 UTSW 14 52,063,532 (GRCm39) missense possibly damaging 0.89
R4916:AY358078 UTSW 14 52,040,108 (GRCm39) missense unknown
R5096:AY358078 UTSW 14 52,063,575 (GRCm39) missense probably benign 0.19
R5143:AY358078 UTSW 14 52,040,006 (GRCm39) missense unknown
R5609:AY358078 UTSW 14 52,042,065 (GRCm39) missense unknown
R5651:AY358078 UTSW 14 52,059,617 (GRCm39) missense unknown
R6988:AY358078 UTSW 14 52,063,644 (GRCm39) missense probably damaging 0.99
R7340:AY358078 UTSW 14 52,063,716 (GRCm39) missense probably damaging 1.00
R8432:AY358078 UTSW 14 52,059,635 (GRCm39) missense unknown
R8684:AY358078 UTSW 14 52,059,597 (GRCm39) nonsense probably null
RF002:AY358078 UTSW 14 52,043,050 (GRCm39) nonsense probably null
RF017:AY358078 UTSW 14 52,043,050 (GRCm39) nonsense probably null
RF025:AY358078 UTSW 14 52,043,046 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTGTGTGAAGGTGAAGACTC -3'
(R):5'- AATGTATGTCTTGGCAGTCCTC -3'

Sequencing Primer
(F):5'- GACTCTAAGTCTGACCTGAAATCTGC -3'
(R):5'- CTTGGCAGTCCTCTGTGCAG -3'
Posted On 2018-04-27