Incidental Mutation 'IGL02742:Phyhip'
ID305958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phyhip
Ensembl Gene ENSMUSG00000003469
Gene Namephytanoyl-CoA hydroxylase interacting protein
SynonymsPAHX-AP1, C630010D02Rik, PAHX-AP#1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02742
Quality Score
Status
Chromosome14
Chromosomal Location70457476-70468832 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 70461927 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003561] [ENSMUST00000159180]
Predicted Effect probably null
Transcript: ENSMUST00000003561
SMART Domains Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469

DomainStartEndE-ValueType
FN3 4 97 1.75e0 SMART
Blast:FN3 145 217 2e-32 BLAST
Predicted Effect probably null
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,095,625 T506A probably damaging Het
AI314180 A G 4: 58,840,757 V667A probably damaging Het
Ankib1 A C 5: 3,693,479 D845E probably benign Het
Atxn2 T C 5: 121,781,336 V369A possibly damaging Het
Ccdc50 T A 16: 27,406,784 probably benign Het
Clec2g A G 6: 128,980,261 I61V possibly damaging Het
Col16a1 G A 4: 130,061,379 probably benign Het
Dapk2 A G 9: 66,231,814 Y139C probably damaging Het
Fnip1 T C 11: 54,493,351 L334P probably damaging Het
Igf1r A G 7: 68,189,991 E682G possibly damaging Het
Ints8 T C 4: 11,241,627 E272G possibly damaging Het
Jph2 G A 2: 163,375,779 P326S probably damaging Het
Krtap1-4 T C 11: 99,583,114 probably benign Het
Lrp5 A G 19: 3,604,022 I1135T probably damaging Het
Lrrk1 A G 7: 66,308,691 V320A probably benign Het
Myh6 A C 14: 54,953,924 I820S possibly damaging Het
Napg A T 18: 62,986,248 T110S probably damaging Het
Nova1 G A 12: 46,720,692 Q56* probably null Het
Pkd2l2 C A 18: 34,416,917 S205* probably null Het
Ppp2r1a G T 17: 20,959,003 C101F probably benign Het
Serpinb3c G A 1: 107,273,142 R182* probably null Het
St18 A C 1: 6,802,316 probably benign Het
St6galnac4 C T 2: 32,597,084 R264C possibly damaging Het
Tmem168 T C 6: 13,603,262 Y35C probably benign Het
Tmem219 A G 7: 126,897,048 L74P probably damaging Het
Trpc4 T A 3: 54,299,246 N622K probably damaging Het
Trpm6 A C 19: 18,830,012 probably benign Het
Ttl C A 2: 129,066,293 F49L possibly damaging Het
Vmn1r123 A T 7: 21,163,043 I287F possibly damaging Het
Vmn2r97 T G 17: 18,929,170 I273M probably damaging Het
Wdr5 C A 2: 27,520,425 probably benign Het
Zcchc6 C T 13: 59,816,342 D250N probably damaging Het
Zfp37 C A 4: 62,192,311 C172F possibly damaging Het
Other mutations in Phyhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Phyhip APN 14 70463357 missense probably benign
R0312:Phyhip UTSW 14 70466970 missense possibly damaging 0.92
R0322:Phyhip UTSW 14 70463396 missense possibly damaging 0.74
R0534:Phyhip UTSW 14 70461759 start codon destroyed possibly damaging 0.65
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 not run
Posted On2015-04-16