Incidental Mutation 'R5143:AY358078'
ID 396534
Institutional Source Beutler Lab
Gene Symbol AY358078
Ensembl Gene ENSMUSG00000050961
Gene Name cDNA sequence AY358078
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5143 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52037503-52063816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52040006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 39 (S39P)
Ref Sequence ENSEMBL: ENSMUSP00000078129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053821]
AlphaFold Q6UY53
Predicted Effect unknown
Transcript: ENSMUST00000053821
AA Change: S39P
SMART Domains Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: S39P

DomainStartEndE-ValueType
Pfam:Takusan 91 171 5.5e-26 PFAM
coiled coil region 187 220 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,887,064 (GRCm39) probably null Het
Abcc2 T C 19: 43,810,100 (GRCm39) I886T probably benign Het
Adrb2 T C 18: 62,311,847 (GRCm39) Y326C probably damaging Het
Aplp1 G A 7: 30,140,548 (GRCm39) R334C probably damaging Het
Bpifb2 A T 2: 153,720,424 (GRCm39) D61V probably damaging Het
Caap1 A T 4: 94,389,619 (GRCm39) N238K probably damaging Het
Cfap54 A G 10: 92,865,020 (GRCm39) V726A possibly damaging Het
Chrna7 T C 7: 62,755,895 (GRCm39) Y217C probably damaging Het
Crocc T A 4: 140,768,350 (GRCm39) T414S probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Dnah6 A T 6: 73,158,744 (GRCm39) F620I possibly damaging Het
Eogt A G 6: 97,102,545 (GRCm39) L256P probably damaging Het
F5 A G 1: 164,039,397 (GRCm39) I2002M probably damaging Het
Foxp1 A G 6: 98,922,493 (GRCm39) probably null Het
Fut8 A G 12: 77,411,983 (GRCm39) D111G probably benign Het
Golgb1 C T 16: 36,719,051 (GRCm39) A319V probably benign Het
Hoxd3 C T 2: 74,576,716 (GRCm39) R39C probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Or52b1 T A 7: 104,978,731 (GRCm39) I223F probably damaging Het
Pate8 T A 9: 36,493,200 (GRCm39) N41Y probably benign Het
Pcdhb2 A G 18: 37,429,785 (GRCm39) Y586C probably damaging Het
Plcd1 G A 9: 118,903,519 (GRCm39) Q442* probably null Het
Plppr5 A G 3: 117,419,552 (GRCm39) T207A probably benign Het
Pomt1 C A 2: 32,144,341 (GRCm39) A709E probably benign Het
Prmt8 A G 6: 127,709,677 (GRCm39) M61T probably benign Het
Ptpn23 A G 9: 110,214,506 (GRCm39) probably benign Het
Sbf2 T A 7: 110,021,747 (GRCm39) K493* probably null Het
Semp2l2a A G 8: 13,886,844 (GRCm39) S416P possibly damaging Het
Tmc2 A T 2: 130,076,738 (GRCm39) S355C probably damaging Het
Tonsl A G 15: 76,520,857 (GRCm39) S399P possibly damaging Het
Ttc14 T C 3: 33,863,050 (GRCm39) probably benign Het
Ttn A G 2: 76,568,409 (GRCm39) S19168P probably damaging Het
Usp17lb A T 7: 104,490,685 (GRCm39) S80T probably damaging Het
Vmn2r96 A G 17: 18,804,120 (GRCm39) I457V possibly damaging Het
Wdr64 G T 1: 175,553,979 (GRCm39) D170Y probably damaging Het
Zbtb42 T C 12: 112,645,948 (GRCm39) V41A 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
R5609:AY358078 UTSW 14 52,042,065 (GRCm39) missense unknown
R5651:AY358078 UTSW 14 52,059,617 (GRCm39) missense unknown
R6345:AY358078 UTSW 14 52,063,749 (GRCm39) missense probably damaging 1.00
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'- AGGTTGCCATACGGTATTTCC -3'
(R):5'- ACTCTGCCCAGGACTCATTG -3'

Sequencing Primer
(F):5'- GTATTTCCCAAGTCACAGGAGATGC -3'
(R):5'- ATTGTGCCTTCCCCAGAATG -3'
Posted On 2016-06-21