Incidental Mutation 'R7458:Phyhip'
ID 578270
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 045532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7458 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70694957-70706266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70699260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 21 (R21H)
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: R21H

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: R21H

DomainStartEndE-ValueType
FN3 4 97 1.75e0 SMART
Blast:FN3 145 217 2e-32 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000159180
AA Change: R21H

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125254
Gene: ENSMUSG00000003469
AA Change: R21H

DomainStartEndE-ValueType
Blast:FN3 4 88 7e-47 BLAST
SCOP:d1fnf_2 4 88 4e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,338,510 (GRCm39) V501M probably benign Het
Abca13 T C 11: 9,240,777 (GRCm39) F880S possibly damaging Het
AI182371 T A 2: 34,976,516 (GRCm39) R206S possibly damaging Het
Akr1a1 A T 4: 116,495,014 (GRCm39) M286K possibly damaging Het
Aldh8a1 A G 10: 21,271,492 (GRCm39) E406G possibly damaging Het
Ambra1 T A 2: 91,748,029 (GRCm39) V1255D probably benign Het
Apol7e C T 15: 77,598,604 (GRCm39) T23I probably benign Het
Armh4 T C 14: 49,920,196 (GRCm39) Y711C probably damaging Het
Boc T C 16: 44,307,119 (GRCm39) E1034G Het
Bricd5 T C 17: 24,693,476 (GRCm39) I39T probably damaging Het
Ccne1 T C 7: 37,800,096 (GRCm39) T163A probably damaging Het
Cct7 T C 6: 85,436,978 (GRCm39) V72A probably benign Het
Cdh3 A G 8: 107,263,779 (GRCm39) D199G probably damaging Het
Clip1 T G 5: 123,778,609 (GRCm39) E438A probably damaging Het
Col4a4 T C 1: 82,476,669 (GRCm39) I553M unknown Het
Csmd1 A T 8: 16,003,738 (GRCm39) N2605K probably damaging Het
Dnajc10 T A 2: 80,155,094 (GRCm39) probably null Het
Fbn1 T A 2: 125,161,036 (GRCm39) D2168V probably benign Het
G2e3 T A 12: 51,412,290 (GRCm39) N443K possibly damaging Het
Gak T C 5: 108,730,940 (GRCm39) D822G probably benign Het
Gm9493 A G 19: 23,597,277 (GRCm39) I58V probably benign Het
Gpr65 T G 12: 98,242,324 (GRCm39) S326A probably damaging Het
Irs2 T C 8: 11,057,739 (GRCm39) E231G probably damaging Het
Itga1 T C 13: 115,122,802 (GRCm39) D718G probably benign Het
Itih1 T C 14: 30,665,223 (GRCm39) M1V probably null Het
Lgr5 A G 10: 115,293,660 (GRCm39) probably null Het
Lipn A G 19: 34,049,242 (GRCm39) N136S probably benign Het
Lrrc37a G A 11: 103,388,258 (GRCm39) T2389I unknown Het
Myo7b G A 18: 32,121,604 (GRCm39) A767V possibly damaging Het
Necab1 A T 4: 15,111,244 (GRCm39) S61R possibly damaging Het
Or5m8 A G 2: 85,822,994 (GRCm39) T278A probably damaging Het
Pls1 G A 9: 95,667,560 (GRCm39) T116I probably damaging Het
Pnn C A 12: 59,119,200 (GRCm39) S594R unknown Het
Psen1 T A 12: 83,761,540 (GRCm39) I114N probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,188 (GRCm39) V82E probably damaging Het
Slc25a44 A G 3: 88,323,368 (GRCm39) I246T probably benign Het
Slc2a13 T A 15: 91,296,390 (GRCm39) Y308F probably benign Het
Sntb2 C A 8: 107,662,930 (GRCm39) A166E possibly damaging Het
Tas2r135 T A 6: 42,382,881 (GRCm39) V140D possibly damaging Het
Tdrd6 T C 17: 43,935,937 (GRCm39) T1704A probably benign Het
Txndc12 A G 4: 108,718,606 (GRCm39) D159G probably benign Het
Ubash3a T C 17: 31,427,139 (GRCm39) L16P probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Vmn2r108 T C 17: 20,692,532 (GRCm39) D108G probably benign Het
Vmn2r58 C A 7: 41,487,123 (GRCm39) A591S probably benign Het
Wdpcp T C 11: 21,698,919 (GRCm39) I566T probably damaging Het
Zfp866 T A 8: 70,218,202 (GRCm39) K473* probably null 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
R5837:Phyhip UTSW 14 70,704,450 (GRCm39) missense probably damaging 0.99
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
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'- CTATAGCATTTATGAGGCTGCGG -3'
(R):5'- GAGACCATCAATTCGCTCCC -3'

Sequencing Primer
(F):5'- TGGGTTTCCACCTCACCAAAG -3'
(R):5'- AATTCGCTCCCTTGTAGAACAGGG -3'
Posted On 2019-10-07