Incidental Mutation 'R0534:Phyhip'
ID49386
Institutional Source Beutler Lab
Gene Symbol Phyhip
Ensembl Gene ENSMUSG00000003469
Gene Namephytanoyl-CoA hydroxylase interacting protein
SynonymsPAHX-AP1, C630010D02Rik, PAHX-AP#1
MMRRC Submission 038726-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R0534 (G1)
Quality Score168
Status Validated
Chromosome14
Chromosomal Location70457476-70468832 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 70461759 bp
ZygosityHeterozygous
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]
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
4933416C03Rik T C 10: 116,112,802 E273G possibly damaging Het
4933425L06Rik C A 13: 105,082,254 S32* probably null Het
Cand2 A G 6: 115,787,236 M324V probably damaging Het
Cap1 C T 4: 122,862,719 V340M probably benign Het
Ccdc110 T C 8: 45,935,138 V44A possibly damaging Het
Cps1 A G 1: 67,143,900 D139G probably benign Het
Cwc27 T A 13: 104,631,616 E457V unknown Het
Cxxc1 C T 18: 74,218,891 P280S probably benign Het
Dopey2 T A 16: 93,762,505 L595Q probably benign Het
Dscam G T 16: 96,652,172 S1292R possibly damaging Het
E2f4 C A 8: 105,304,219 F353L probably damaging Het
Ep300 A G 15: 81,600,896 probably benign Het
Fads1 C T 19: 10,183,065 P5L probably benign Het
Fign T A 2: 63,980,791 H45L probably damaging Het
Flcn T A 11: 59,794,199 probably benign Het
Gm5141 A T 13: 62,774,594 F254I probably damaging Het
Gpbp1l1 T A 4: 116,591,268 N402K probably damaging Het
Gpr37 A T 6: 25,669,824 C340* probably null Het
Gtf3c2 A T 5: 31,158,132 probably benign Het
Hcfc2 T A 10: 82,738,408 F139I probably damaging Het
Hectd4 T C 5: 121,348,476 L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 45,337,235 probably benign Het
Igf2bp1 A G 11: 95,966,796 probably benign Het
Igsf9b T G 9: 27,333,062 probably null Het
Il23r G A 6: 67,426,588 A443V probably benign Het
Kcnv1 A G 15: 45,109,249 F413L probably damaging Het
Lipe C A 7: 25,388,186 A150S possibly damaging Het
Lrrcc1 T C 3: 14,557,273 S557P probably damaging Het
Mrpl54 C A 10: 81,266,853 W13L probably damaging Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Npy1r C A 8: 66,705,018 Q327K probably damaging Het
Olfr64 C T 7: 103,893,231 R168H probably benign Het
Osbpl10 C T 9: 115,167,178 L139F probably damaging Het
P2rx6 A C 16: 17,567,904 T199P probably damaging Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Psmc1 T A 12: 100,120,130 I342N possibly damaging Het
Reln A T 5: 21,947,408 D2353E probably damaging Het
Rmdn3 T C 2: 119,146,370 E294G probably benign Het
Scnn1g A G 7: 121,767,424 M615V probably benign Het
Shcbp1l T A 1: 153,428,568 D124E possibly damaging Het
Sipa1l1 T C 12: 82,425,280 S1345P possibly damaging Het
Soga3 T A 10: 29,180,956 probably benign Het
St5 A T 7: 109,541,428 V197D probably damaging Het
Timp4 A G 6: 115,249,841 Y114H probably damaging Het
Tlr9 T A 9: 106,224,887 L459Q probably benign Het
Tmem104 C A 11: 115,200,828 T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 111,480,540 probably benign Het
Zfp622 A T 15: 25,984,568 I7F possibly damaging Het
Other mutations in Phyhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Phyhip APN 14 70463357 missense probably benign
IGL02742:Phyhip APN 14 70461927 splice site probably null
R0312:Phyhip UTSW 14 70466970 missense possibly damaging 0.92
R0322:Phyhip UTSW 14 70463396 missense possibly damaging 0.74
R1443:Phyhip UTSW 14 70467291 missense probably damaging 1.00
R1523:Phyhip UTSW 14 70461760 start codon destroyed probably null 0.96
R2169:Phyhip UTSW 14 70467132 missense possibly damaging 0.95
R2209:Phyhip UTSW 14 70461894 missense probably damaging 1.00
R4888:Phyhip UTSW 14 70467325 missense probably damaging 0.99
R5366:Phyhip UTSW 14 70466855 missense probably benign 0.17
R5595:Phyhip UTSW 14 70466874 missense probably benign 0.04
R5756:Phyhip UTSW 14 70467092 missense probably damaging 1.00
R5837:Phyhip UTSW 14 70467010 missense probably damaging 0.99
R5852:Phyhip UTSW 14 70461929 splice site probably null
R6106:Phyhip UTSW 14 70461859 missense probably benign 0.28
R6159:Phyhip UTSW 14 70466854 missense possibly damaging 0.77
R6209:Phyhip UTSW 14 70463358 missense probably benign 0.26
R6246:Phyhip UTSW 14 70467055 missense probably damaging 1.00
R7134:Phyhip UTSW 14 70467199 missense probably benign 0.18
R7458:Phyhip UTSW 14 70461820 missense probably damaging 0.96
Z1177:Phyhip UTSW 14 70461862 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 On2013-06-12