Incidental Mutation 'R5837:Phyhip'
ID 449667
Institutional Source Beutler Lab
Gene Symbol Phyhip
Ensembl Gene ENSMUSG00000003469
Gene Name phytanoyl-CoA hydroxylase interacting protein
Synonyms C630010D02Rik, PAHX-AP1, PAHX-AP#1
MMRRC Submission 044057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5837 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 70694957-70706266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70704450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 223 (A223E)
Ref Sequence ENSEMBL: ENSMUSP00000003561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003561] [ENSMUST00000159180]
AlphaFold Q8K0S0
Predicted Effect probably damaging
Transcript: ENSMUST00000003561
AA Change: A223E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: A223E

DomainStartEndE-ValueType
FN3 4 97 1.75e0 SMART
Blast:FN3 145 217 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159180
SMART Domains Protein: ENSMUSP00000125254
Gene: ENSMUSG00000003469

DomainStartEndE-ValueType
Blast:FN3 4 88 7e-47 BLAST
SCOP:d1fnf_2 4 88 4e-5 SMART
Meta Mutation Damage Score 0.2339 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,323,371 (GRCm39) R113Q probably benign Het
Ank1 A G 8: 23,594,806 (GRCm39) N605D probably damaging Het
Apob A G 12: 8,053,277 (GRCm39) M1240V probably benign Het
Atf1 T A 15: 100,152,265 (GRCm39) I86N probably damaging Het
Best1 T A 19: 9,966,483 (GRCm39) probably null Het
Bet1l C A 7: 140,434,694 (GRCm39) R51L probably benign Het
Bpifa5 A G 2: 154,005,598 (GRCm39) Y60C probably damaging Het
Ccdc141 G T 2: 76,938,781 (GRCm39) Q275K possibly damaging Het
Cep295 T A 9: 15,258,280 (GRCm39) H241L probably damaging Het
Commd7 A G 2: 153,471,144 (GRCm39) V36A possibly damaging Het
Cyld G A 8: 89,468,032 (GRCm39) S555N probably damaging Het
Cyp2j13 A T 4: 95,959,919 (GRCm39) I79N probably damaging Het
Dact2 A G 17: 14,416,515 (GRCm39) S562P probably damaging Het
Dnajc13 T A 9: 104,053,865 (GRCm39) I1664F possibly damaging Het
Ehmt1 A G 2: 24,753,926 (GRCm39) V277A probably damaging Het
Fbn1 A T 2: 125,221,054 (GRCm39) probably null Het
Galnt6 G A 15: 100,592,527 (GRCm39) T560M possibly damaging Het
Glra1 G T 11: 55,427,333 (GRCm39) probably null Het
Gm10762 C T 2: 128,809,077 (GRCm39) probably benign Het
Greb1 C T 12: 16,738,586 (GRCm39) R1459H probably damaging Het
Ift140 A G 17: 25,308,514 (GRCm39) K1048E probably damaging Het
Ilk T C 7: 105,390,378 (GRCm39) probably null Het
Lgi4 C T 7: 30,770,208 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,374,105 (GRCm39) T59A possibly damaging Het
Lzic G T 4: 149,570,457 (GRCm39) probably null Het
Mef2d A G 3: 88,069,088 (GRCm39) T286A probably benign Het
Mycbp2 C A 14: 103,361,839 (GRCm39) C4447F probably damaging Het
Ncoa2 A G 1: 13,294,930 (GRCm39) probably benign Het
Nolc1 T C 19: 46,071,622 (GRCm39) probably benign Het
Npl T C 1: 153,379,271 (GRCm39) T271A probably benign Het
Nudt1 A G 5: 140,320,295 (GRCm39) R25G probably damaging Het
Nudt19 T C 7: 35,251,061 (GRCm39) E226G possibly damaging Het
Oc90 T C 15: 65,748,295 (GRCm39) D405G probably benign Het
Or10q1b T A 19: 13,682,324 (GRCm39) C44* probably null Het
Or1e1c A G 11: 73,266,474 (GRCm39) M300V probably benign Het
Or5as1 A T 2: 86,980,699 (GRCm39) F102Y probably benign Het
Or9k2b A T 10: 130,016,266 (GRCm39) L161H probably damaging Het
Pcdhb1 T C 18: 37,398,880 (GRCm39) I277T possibly damaging Het
Pcdhb9 C A 18: 37,535,851 (GRCm39) A615E probably damaging Het
Phrf1 C G 7: 140,839,974 (GRCm39) D1056E probably benign Het
Polr2h T A 16: 20,536,682 (GRCm39) I4N probably damaging Het
Ppp1r12c C A 7: 4,500,403 (GRCm39) probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Psg17 T A 7: 18,554,140 (GRCm39) T37S possibly damaging Het
Ptprz1 T C 6: 23,001,417 (GRCm39) V1169A probably benign Het
Rabgap1l T C 1: 160,134,792 (GRCm39) probably benign Het
Rapgef3 C T 15: 97,655,223 (GRCm39) probably benign Het
Rbp3 C A 14: 33,676,230 (GRCm39) H59Q probably benign Het
Robo3 T A 9: 37,341,112 (GRCm39) probably null Het
Slco4c1 C T 1: 96,746,707 (GRCm39) E712K probably benign Het
Ssh3 T C 19: 4,316,428 (GRCm39) T168A probably benign Het
Stoml2 G T 4: 43,028,989 (GRCm39) N248K probably damaging Het
Tmigd1 A G 11: 76,806,911 (GRCm39) probably benign Het
Tnc T A 4: 63,931,451 (GRCm39) D753V probably damaging Het
Tnik A T 3: 28,722,202 (GRCm39) probably benign Het
Treml1 A G 17: 48,667,180 (GRCm39) S22G possibly damaging Het
Trmt2a C T 16: 18,067,326 (GRCm39) probably benign Het
Ttn T C 2: 76,547,718 (GRCm39) T32151A probably damaging Het
Utp25 A T 1: 192,800,701 (GRCm39) F373Y probably damaging Het
Vmn1r67 T C 7: 10,180,949 (GRCm39) I10T probably benign Het
Vmn2r116 T C 17: 23,606,054 (GRCm39) F322S probably damaging Het
Wdr19 A G 5: 65,360,300 (GRCm39) D35G probably benign Het
Zfp365 A T 10: 67,724,870 (GRCm39) H339Q probably damaging Het
Zfp677 A T 17: 21,617,648 (GRCm39) H235L probably damaging Het
Zpbp2 G A 11: 98,442,097 (GRCm39) probably benign Het
Other mutations in Phyhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Phyhip APN 14 70,700,797 (GRCm39) missense probably benign
IGL02742:Phyhip APN 14 70,699,367 (GRCm39) splice site probably null
R0312:Phyhip UTSW 14 70,704,410 (GRCm39) missense possibly damaging 0.92
R0322:Phyhip UTSW 14 70,700,836 (GRCm39) missense possibly damaging 0.74
R0534:Phyhip UTSW 14 70,699,199 (GRCm39) start codon destroyed possibly damaging 0.65
R1443:Phyhip UTSW 14 70,704,731 (GRCm39) missense probably damaging 1.00
R1523:Phyhip UTSW 14 70,699,200 (GRCm39) start codon destroyed probably null 0.96
R2169:Phyhip UTSW 14 70,704,572 (GRCm39) missense possibly damaging 0.95
R2209:Phyhip UTSW 14 70,699,334 (GRCm39) missense probably damaging 1.00
R4888:Phyhip UTSW 14 70,704,765 (GRCm39) missense probably damaging 0.99
R5366:Phyhip UTSW 14 70,704,295 (GRCm39) missense probably benign 0.17
R5595:Phyhip UTSW 14 70,704,314 (GRCm39) missense probably benign 0.04
R5756:Phyhip UTSW 14 70,704,532 (GRCm39) missense probably damaging 1.00
R5852:Phyhip UTSW 14 70,699,369 (GRCm39) splice site probably null
R6106:Phyhip UTSW 14 70,699,299 (GRCm39) missense probably benign 0.28
R6159:Phyhip UTSW 14 70,704,294 (GRCm39) missense possibly damaging 0.77
R6209:Phyhip UTSW 14 70,700,798 (GRCm39) missense probably benign 0.26
R6246:Phyhip UTSW 14 70,704,495 (GRCm39) missense probably damaging 1.00
R7134:Phyhip UTSW 14 70,704,639 (GRCm39) missense probably benign 0.18
R7458:Phyhip UTSW 14 70,699,260 (GRCm39) missense probably damaging 0.96
R8540:Phyhip UTSW 14 70,704,594 (GRCm39) missense probably benign
R8816:Phyhip UTSW 14 70,704,375 (GRCm39) missense probably damaging 1.00
Z1177:Phyhip UTSW 14 70,699,302 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACGTACTGCAGCCTTACC -3'
(R):5'- CTCGGTGTAGATGATCTCCAAG -3'

Sequencing Primer
(F):5'- CTTACCTGAAGGACAACAGCGG -3'
(R):5'- ATCTCCAAGATGAGGTCCTGAGC -3'
Posted On 2016-12-20