Mutagenetix > Incidental Mutation

Incidental Mutation 'R2209:Phyhip'

239283

Institutional Source

Beutler Lab

Gene Symbol

Phyhip

Ensembl Gene

ENSMUSG00000003469

Gene Name

phytanoyl-CoA hydroxylase interacting protein

Synonyms

C630010D02Rik, PAHX-AP1, PAHX-AP#1

MMRRC Submission

040211-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70694957-70706266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70699334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 46 (N46Y)

Ref Sequence

ENSEMBL: ENSMUSP00000125254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003561] [ENSMUST00000159180]

AlphaFold

Q8K0S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003561
AA Change: N46Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: N46Y

Domain	Start	End	E-Value	Type
FN3	4	97	1.75e0	SMART
Blast:FN3	145	217	2e-32	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000159180
AA Change: N46Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125254
Gene: ENSMUSG00000003469
AA Change: N46Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,884,227 (GRCm39)	E330G	possibly damaging	Het
Apob	A	C	12: 8,057,752 (GRCm39)	D2078A	probably benign	Het
Arhgap21	T	A	2: 20,854,331 (GRCm39)	Q1681L	probably damaging	Het
Arsb	A	G	13: 93,998,609 (GRCm39)	T306A	probably benign	Het
Brpf3	G	A	17: 29,047,394 (GRCm39)	D1053N	probably damaging	Het
Cenpf	A	T	1: 189,384,795 (GRCm39)	I2495N	probably benign	Het
Col12a1	T	C	9: 79,599,634 (GRCm39)	K840E	possibly damaging	Het
Cry1	A	G	10: 84,982,619 (GRCm39)	L269P	probably damaging	Het
Cyp21a1	C	A	17: 35,021,701 (GRCm39)	E289*	probably null	Het
Dcp2	A	T	18: 44,538,581 (GRCm39)	K215*	probably null	Het
Dnaaf11	A	G	15: 66,321,400 (GRCm39)	I247T	probably benign	Het
Ecm2	A	G	13: 49,683,632 (GRCm39)	N537D	probably damaging	Het
Emid1	G	A	11: 5,085,407 (GRCm39)	T113M	probably benign	Het
Exoc8	C	T	8: 125,622,918 (GRCm39)	W483*	probably null	Het
Fes	A	T	7: 80,030,031 (GRCm39)	N582K	probably damaging	Het
Flnb	G	T	14: 7,905,507 (GRCm38)	E1086*	probably null	Het
Flnc	T	A	6: 29,455,844 (GRCm39)	D2058E	possibly damaging	Het
Gatb	G	A	3: 85,561,112 (GRCm39)	D543N	probably benign	Het
Gm14412	A	G	2: 177,009,229 (GRCm39)	V9A	probably damaging	Het
Gm4884	T	C	7: 40,692,745 (GRCm39)	V238A	possibly damaging	Het
Igfbp5	A	G	1: 72,913,096 (GRCm39)	V68A	possibly damaging	Het
Igflr1	T	A	7: 30,267,222 (GRCm39)	I330N	probably damaging	Het
Il1r2	A	G	1: 40,154,298 (GRCm39)	T222A	probably benign	Het
Krt87	T	C	15: 101,330,989 (GRCm39)	E419G	probably benign	Het
Lman2	A	G	13: 55,499,315 (GRCm39)	S187P	probably damaging	Het
Mrpl38	T	C	11: 116,029,288 (GRCm39)	E76G	possibly damaging	Het
Mtx3	A	G	13: 92,984,112 (GRCm39)	I130V	probably benign	Het
Naf1	T	G	8: 67,313,188 (GRCm39)		probably benign	Het
Nkx2-1	T	G	12: 56,580,293 (GRCm39)	M216L	probably benign	Het
Notch1	C	A	2: 26,350,019 (GRCm39)	V2374L	probably benign	Het
Nrxn2	A	G	19: 6,543,037 (GRCm39)	D1087G	probably benign	Het
Nudt8	T	C	19: 4,051,902 (GRCm39)	F171S	probably damaging	Het
Or5an1	T	G	19: 12,261,224 (GRCm39)	F271V	probably benign	Het
Pds5a	A	T	5: 65,785,357 (GRCm39)	C916*	probably null	Het
Pomt1	A	G	2: 32,140,874 (GRCm39)	Y502C	possibly damaging	Het
Prkcg	A	C	7: 3,352,097 (GRCm39)		probably benign	Het
Prl8a6	C	T	13: 27,619,369 (GRCm39)	E118K	probably benign	Het
Prpf39	T	C	12: 65,104,689 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,205,262 (GRCm39)	H2159R	probably damaging	Het
Ripor2	A	T	13: 24,885,595 (GRCm39)	D571V	probably damaging	Het
Rps19	C	T	7: 24,584,552 (GRCm39)	L34F	probably benign	Het
Rusc1	A	G	3: 88,996,128 (GRCm39)	S145P	probably damaging	Het
Scn4a	T	A	11: 106,230,051 (GRCm39)	T586S	probably damaging	Het
Slc7a12	A	G	3: 14,546,124 (GRCm39)	S90G	possibly damaging	Het
Specc1l	A	G	10: 75,082,410 (GRCm39)	D619G	probably damaging	Het
Src	A	G	2: 157,304,710 (GRCm39)	D143G	probably benign	Het
Sst	T	C	16: 23,708,558 (GRCm39)	N91S	probably benign	Het
Stxbp5l	T	A	16: 37,036,398 (GRCm39)	I406F	probably damaging	Het
Thsd1	T	A	8: 22,748,887 (GRCm39)	I525N	probably damaging	Het
Ticam2	A	T	18: 46,693,467 (GRCm39)	F207I	probably damaging	Het
Tsc22d1	C	A	14: 76,656,180 (GRCm39)	N31K	probably damaging	Het
Tspan10	T	C	11: 120,336,989 (GRCm39)	V253A	probably benign	Het
Ttc33	A	G	15: 5,237,924 (GRCm39)	K99R	possibly damaging	Het
Vmn1r63	T	A	7: 5,806,212 (GRCm39)	N140I	probably damaging	Het
Yju2b	C	T	8: 84,990,498 (GRCm39)	V45I	probably benign	Het
Zbtb25	A	G	12: 76,395,903 (GRCm39)	*440Q	probably null	Het
Zfhx4	T	A	3: 5,461,978 (GRCm39)	C1218S	probably damaging	Het
Zfp84	T	A	7: 29,476,607 (GRCm39)	I433N	probably damaging	Het

Other mutations in Phyhip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Phyhip	APN	14	70,700,797 (GRCm39)	missense	probably benign
IGL02742:Phyhip	APN	14	70,699,367 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GAAAGCTCTGTGATGGGCTG -3'
(R):5'- AGCATTGGAGCTGTGCGATC -3'

Sequencing Primer
(F):5'- CTGGAGGTGCTGATCTGTCCTC -3'
(R):5'- AAGGCTCTGAATGGTTCGATCAC -3'

Posted On

2014-10-15