Incidental Mutation 'IGL02742:Phyhip'
ID 305958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phyhip
Ensembl Gene ENSMUSG00000003469
Gene Name phytanoyl-CoA hydroxylase interacting protein
Synonyms C630010D02Rik, PAHX-AP1, PAHX-AP#1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02742
Quality Score
Status
Chromosome 14
Chromosomal Location 70694957-70706266 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 70699367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003561] [ENSMUST00000159180]
AlphaFold Q8K0S0
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: 103,972,824 (GRCm39) T506A probably damaging Het
Ankib1 A C 5: 3,743,479 (GRCm39) D845E probably benign Het
Atxn2 T C 5: 121,919,399 (GRCm39) V369A possibly damaging Het
Ccdc50 T A 16: 27,225,534 (GRCm39) probably benign Het
Clec2g A G 6: 128,957,224 (GRCm39) I61V possibly damaging Het
Col16a1 G A 4: 129,955,172 (GRCm39) probably benign Het
Dapk2 A G 9: 66,139,096 (GRCm39) Y139C probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Fnip1 T C 11: 54,384,177 (GRCm39) L334P probably damaging Het
Igf1r A G 7: 67,839,739 (GRCm39) E682G possibly damaging Het
Ints8 T C 4: 11,241,627 (GRCm39) E272G possibly damaging Het
Jph2 G A 2: 163,217,699 (GRCm39) P326S probably damaging Het
Krtap1-4 T C 11: 99,473,940 (GRCm39) probably benign Het
Lrp5 A G 19: 3,654,022 (GRCm39) I1135T probably damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Myh6 A C 14: 55,191,381 (GRCm39) I820S possibly damaging Het
Napg A T 18: 63,119,319 (GRCm39) T110S probably damaging Het
Nova1 G A 12: 46,767,475 (GRCm39) Q56* probably null Het
Pkd2l2 C A 18: 34,549,970 (GRCm39) S205* probably null Het
Ppp2r1a G T 17: 21,179,265 (GRCm39) C101F probably benign Het
Serpinb3c G A 1: 107,200,872 (GRCm39) R182* probably null Het
St18 A C 1: 6,872,540 (GRCm39) probably benign Het
St6galnac4 C T 2: 32,487,096 (GRCm39) R264C possibly damaging Het
Tmem168 T C 6: 13,603,261 (GRCm39) Y35C probably benign Het
Tmem219 A G 7: 126,496,220 (GRCm39) L74P probably damaging Het
Trpc4 T A 3: 54,206,667 (GRCm39) N622K probably damaging Het
Trpm6 A C 19: 18,807,376 (GRCm39) probably benign Het
Ttl C A 2: 128,908,213 (GRCm39) F49L possibly damaging Het
Tut7 C T 13: 59,964,156 (GRCm39) D250N probably damaging Het
Vmn1r123 A T 7: 20,896,968 (GRCm39) I287F possibly damaging Het
Vmn2r97 T G 17: 19,149,432 (GRCm39) I273M probably damaging Het
Wdr5 C A 2: 27,410,437 (GRCm39) probably benign Het
Zfp37 C A 4: 62,110,548 (GRCm39) C172F possibly damaging Het
Other mutations in Phyhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Phyhip APN 14 70,700,797 (GRCm39) missense probably benign
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
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
Posted On 2015-04-16