Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Phyhip'

49386

Institutional Source

Beutler Lab

Gene Symbol

Phyhip

Ensembl Gene

ENSMUSG00000003469

Gene Name

phytanoyl-CoA hydroxylase interacting protein

Synonyms

PAHX-AP1, C630010D02Rik, PAHX-AP#1

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0534 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

70457476-70468832 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 70461759 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Blast:FN3	4	88	7e-47	BLAST
SCOP:d1fnf_2	4	88	4e-5	SMART

Meta Mutation Damage Score

0.8140

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8540:Phyhip	UTSW	14	70467154	missense	probably benign
R8816:Phyhip	UTSW	14	70466935	missense	probably damaging	1.00
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 On

2013-06-12