Incidental Mutation 'R0534:Phyhip'
ID 49386
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 038726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0534 (G1)
Quality Score 168
Status Validated
Chromosome 14
Chromosomal Location 70694957-70706266 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 70699199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000125254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003561] [ENSMUST00000159180]
AlphaFold Q8K0S0
Predicted Effect probably benign
Transcript: ENSMUST00000003561
AA Change: M1L

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: M1L

DomainStartEndE-ValueType
FN3 4 97 1.75e0 SMART
Blast:FN3 145 217 2e-32 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000159180
AA Change: M1L

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125254
Gene: ENSMUSG00000003469
AA Change: M1L

DomainStartEndE-ValueType
Blast:FN3 4 88 7e-47 BLAST
SCOP:d1fnf_2 4 88 4e-5 SMART
Meta Mutation Damage Score 0.8140 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging 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
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
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'- AGCTCCATCTGCTGCAAATCTGTC -3'
(R):5'- ACTCACTCGGTGCTTGAACTTGTTG -3'

Sequencing Primer
(F):5'- AGTGTTTGCAACATTCCCACTG -3'
(R):5'- AAATAATGGGTGACCCTCTCC -3'
Posted On 2013-06-12