Incidental Mutation 'IGL03374:Phyhipl'
ID 420414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phyhipl
Ensembl Gene ENSMUSG00000037747
Gene Name phytanoyl-CoA hydroxylase interacting protein-like
Synonyms 4921522K17Rik, PHY2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL03374
Quality Score
Status
Chromosome 10
Chromosomal Location 70393516-70435121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70401109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 163 (V163A)
Ref Sequence ENSEMBL: ENSMUSP00000045807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046513] [ENSMUST00000162251]
AlphaFold Q8BGT8
Predicted Effect possibly damaging
Transcript: ENSMUST00000046513
AA Change: V163A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045807
Gene: ENSMUSG00000037747
AA Change: V163A

DomainStartEndE-ValueType
FN3 49 142 6.16e-2 SMART
Blast:FN3 188 262 2e-45 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000162144
AA Change: V150A
SMART Domains Protein: ENSMUSP00000124828
Gene: ENSMUSG00000037747
AA Change: V150A

DomainStartEndE-ValueType
FN3 37 130 6.16e-2 SMART
Blast:FN3 176 212 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162251
AA Change: V118A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125179
Gene: ENSMUSG00000037747
AA Change: V118A

DomainStartEndE-ValueType
FN3 4 97 6.16e-2 SMART
Blast:FN3 143 217 9e-46 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163054
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Gcnt3 A T 9: 69,941,695 (GRCm39) M291K possibly damaging Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hpd T C 5: 123,310,108 (GRCm39) E372G probably damaging Het
Hsd17b13 A G 5: 104,124,964 (GRCm39) probably benign Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Or9g4b T C 2: 85,616,053 (GRCm39) L66P probably damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Pmfbp1 T C 8: 110,269,046 (GRCm39) probably benign Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Stard5 T C 7: 83,285,980 (GRCm39) S102P possibly damaging Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Ube2d3 A G 3: 135,165,844 (GRCm39) probably null Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly damaging Het
Other mutations in Phyhipl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02140:Phyhipl APN 10 70,406,660 (GRCm39) missense probably damaging 1.00
PIT4366001:Phyhipl UTSW 10 70,404,788 (GRCm39) missense probably benign
R0512:Phyhipl UTSW 10 70,404,748 (GRCm39) missense probably damaging 0.99
R0688:Phyhipl UTSW 10 70,395,085 (GRCm39) missense probably damaging 1.00
R1136:Phyhipl UTSW 10 70,404,902 (GRCm39) missense probably damaging 1.00
R1465:Phyhipl UTSW 10 70,406,798 (GRCm39) missense probably damaging 1.00
R1465:Phyhipl UTSW 10 70,406,798 (GRCm39) missense probably damaging 1.00
R1802:Phyhipl UTSW 10 70,434,855 (GRCm39) missense probably benign
R1978:Phyhipl UTSW 10 70,395,591 (GRCm39) missense possibly damaging 0.94
R4077:Phyhipl UTSW 10 70,404,903 (GRCm39) missense probably damaging 1.00
R4960:Phyhipl UTSW 10 70,404,815 (GRCm39) missense probably benign 0.40
R4976:Phyhipl UTSW 10 70,404,904 (GRCm39) missense probably damaging 1.00
R5119:Phyhipl UTSW 10 70,404,904 (GRCm39) missense probably damaging 1.00
R5739:Phyhipl UTSW 10 70,395,399 (GRCm39) missense possibly damaging 0.92
R6303:Phyhipl UTSW 10 70,395,387 (GRCm39) splice site probably null
R6304:Phyhipl UTSW 10 70,395,387 (GRCm39) splice site probably null
R6649:Phyhipl UTSW 10 70,404,843 (GRCm39) missense probably damaging 1.00
R9150:Phyhipl UTSW 10 70,404,887 (GRCm39) missense probably damaging 1.00
R9237:Phyhipl UTSW 10 70,406,720 (GRCm39) missense possibly damaging 0.82
R9293:Phyhipl UTSW 10 70,401,116 (GRCm39) missense probably damaging 0.97
R9461:Phyhipl UTSW 10 70,395,243 (GRCm39) missense possibly damaging 0.95
R9595:Phyhipl UTSW 10 70,395,512 (GRCm39) nonsense probably null
X0022:Phyhipl UTSW 10 70,404,791 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02