Mutagenetix > Incidental Mutation

Incidental Mutation 'R8816:Phyhip'

672761

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

068726-MU

Accession Numbers

Essential gene?

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

Stock #

R8816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70694957-70706266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 70704375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 198 (D198A)

Ref Sequence

ENSEMBL: ENSMUSP00000003561 (fasta)

Gene Model

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

AlphaFold

Q8K0S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003561
AA Change: D198A

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

SMART Domains

Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: D198A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159180

SMART Domains

Protein: ENSMUSP00000125254
Gene: ENSMUSG00000003469

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,127,513 (GRCm39)	H348L	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Ass1	T	C	2: 31,383,189 (GRCm39)		probably benign	Het
Atp8b4	C	T	2: 126,214,084 (GRCm39)		probably benign	Het
Atrn	C	A	2: 130,748,798 (GRCm39)	N106K	probably damaging	Het
Atrn	T	C	2: 130,846,494 (GRCm39)	V1256A	probably damaging	Het
Bicdl1	T	A	5: 115,862,804 (GRCm39)	Q150H	probably damaging	Het
Bltp3b	T	C	10: 89,626,597 (GRCm39)		probably benign	Het
Cdhr4	T	C	9: 107,872,791 (GRCm39)	V280A	possibly damaging	Het
Cfap54	C	T	10: 92,714,454 (GRCm39)	V2642I	unknown	Het
Chd2	T	C	7: 73,140,245 (GRCm39)	H661R	probably damaging	Het
Cntnap2	A	G	6: 46,833,076 (GRCm39)	D763G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,093 (GRCm39)	C160R	probably damaging	Het
Cyb5r4	T	C	9: 86,904,286 (GRCm39)	S19P	probably benign	Het
Cyp4a30b	G	A	4: 115,309,834 (GRCm39)	V12M	probably benign	Het
Dpp6	C	T	5: 27,930,711 (GRCm39)	P848S	probably benign	Het
Dzip1	T	C	14: 119,159,785 (GRCm39)	Y141C	probably benign	Het
Eif2b3	C	A	4: 116,928,052 (GRCm39)	Q424K	probably benign	Het
Fbxw14	G	A	9: 109,105,305 (GRCm39)	R287*	probably null	Het
Fcgbp	T	G	7: 27,784,412 (GRCm39)	S157R	probably benign	Het
Fmnl2	T	G	2: 53,004,214 (GRCm39)	V642G	unknown	Het
Gpr119	C	T	X: 47,762,276 (GRCm39)	R287Q	possibly damaging	Het
Grm7	C	T	6: 111,230,966 (GRCm39)	T463I	possibly damaging	Het
Haus4	G	A	14: 54,779,710 (GRCm39)	R305C	probably benign	Het
Htr1f	A	G	16: 64,746,537 (GRCm39)	S252P	probably benign	Het
Ino80b	T	C	6: 83,098,861 (GRCm39)	Q359R	probably damaging	Het
Itgad	C	A	7: 127,797,542 (GRCm39)	Y924*	probably null	Het
Itpr2	A	G	6: 146,142,710 (GRCm39)	Y1703H	probably damaging	Het
Kif5c	T	A	2: 49,584,799 (GRCm39)	V174E	probably damaging	Het
Kifc2	A	G	15: 76,548,371 (GRCm39)	E405G	probably damaging	Het
Klk1b3	T	C	7: 43,851,668 (GRCm39)	V242A	possibly damaging	Het
Kndc1	T	C	7: 139,517,909 (GRCm39)	F1615S	probably damaging	Het
Lmtk2	T	A	5: 144,112,793 (GRCm39)	L1171*	probably null	Het
Myh10	A	G	11: 68,693,778 (GRCm39)	E1530G	probably damaging	Het
Nav3	T	A	10: 109,699,721 (GRCm39)	S258C	possibly damaging	Het
Nudcd3	C	T	11: 6,100,587 (GRCm39)	G186S	probably damaging	Het
Or9s15	T	A	1: 92,524,768 (GRCm39)	C176S	probably damaging	Het
Otog	C	T	7: 45,950,905 (GRCm39)	S374F	possibly damaging	Het
P2ry2	T	A	7: 100,647,763 (GRCm39)	I181F	possibly damaging	Het
Pde11a	T	C	2: 76,121,577 (GRCm39)	I335V	probably benign	Het
Pik3r5	A	T	11: 68,385,060 (GRCm39)	Y655F	probably damaging	Het
Rab6a	T	C	7: 100,279,145 (GRCm39)	I95T	possibly damaging	Het
Sgsm1	T	C	5: 113,435,097 (GRCm39)	E99G	probably damaging	Het
Skint10	A	T	4: 112,603,892 (GRCm39)	F98L	probably benign	Het
Slc35c2	A	G	2: 165,119,378 (GRCm39)	S321P	probably benign	Het
Smyd1	T	A	6: 71,192,868 (GRCm39)	E447V	probably damaging	Het
Smyd4	T	C	11: 75,281,232 (GRCm39)	V235A	probably benign	Het
Sod2	A	G	17: 13,227,253 (GRCm39)	Y69C	probably benign	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tfap2b	A	G	1: 19,284,337 (GRCm39)	S82G	probably benign	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Tln2	A	G	9: 67,128,799 (GRCm39)	I1430T	probably damaging	Het
Trio	G	T	15: 27,741,357 (GRCm39)	N2680K	probably damaging	Het
Trmt10c	A	T	16: 55,854,522 (GRCm39)	V371D	probably damaging	Het
Trpm3	T	C	19: 22,965,580 (GRCm39)	S1692P	probably damaging	Het
Usb1	G	T	8: 96,071,984 (GRCm39)	C228F	probably benign	Het
Veph1	G	T	3: 66,065,646 (GRCm39)	H474N	probably benign	Het
Wls	A	G	3: 159,639,928 (GRCm39)	T520A	possibly damaging	Het
Ywhae	T	C	11: 75,623,878 (GRCm39)	Y9H	probably damaging	Het
Zranb3	C	T	1: 127,964,347 (GRCm39)	V127M	possibly 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
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
Z1177:Phyhip	UTSW	14	70,699,302 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCAGAGTGCTAACCCGTG -3'
(R):5'- AGGTCAGGAACTTGTTGCAG -3'

Sequencing Primer
(F):5'- GAGTGCTAACCCGTGGCATTTC -3'
(R):5'- AACTTGTTGCAGGCAATGTCCAG -3'

Posted On

2021-04-30