Mutagenetix > Incidental Mutation

Incidental Mutation 'R6106:Phyhip'

485527

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

044256-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6106 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70694957-70706266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70699299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

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: V34A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: V34A

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
AA Change: V34A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125254
Gene: ENSMUSG00000003469
AA Change: V34A

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,879,838 (GRCm39)	E726G	probably damaging	Het
Adgrl4	A	G	3: 151,246,622 (GRCm39)	I641V	possibly damaging	Het
Apoa5	A	T	9: 46,181,931 (GRCm39)	R336*	probably null	Het
Bfsp2	T	A	9: 103,357,023 (GRCm39)	T135S	probably benign	Het
Calhm2	A	T	19: 47,121,501 (GRCm39)	Y223N	probably damaging	Het
Ccdc158	T	C	5: 92,775,325 (GRCm39)	E960G	probably benign	Het
Ccdc80	T	C	16: 44,917,073 (GRCm39)	S610P	probably benign	Het
Cdon	T	A	9: 35,366,704 (GRCm39)	Y193*	probably null	Het
Cept1	A	T	3: 106,410,992 (GRCm39)	H400Q	probably benign	Het
Cfap144	T	C	11: 58,687,427 (GRCm39)	E66G	probably damaging	Het
Clspn	T	A	4: 126,484,434 (GRCm39)	N1197K	probably benign	Het
Cnot8	T	C	11: 58,004,816 (GRCm39)	S172P	probably damaging	Het
Col14a1	T	C	15: 55,383,404 (GRCm39)	I1794T	probably damaging	Het
Cracdl	T	C	1: 37,652,493 (GRCm39)	T1105A	possibly damaging	Het
Fam193a	A	T	5: 34,616,374 (GRCm39)	T564S	possibly damaging	Het
Galnt1	G	A	18: 24,387,720 (GRCm39)	V154I	probably benign	Het
Gstcd	C	A	3: 132,704,675 (GRCm39)	E526D	probably benign	Het
Ighv1-42	A	C	12: 114,900,907 (GRCm39)	S59R	probably benign	Het
Morn3	A	G	5: 123,184,823 (GRCm39)	C6R	possibly damaging	Het
Nrdc	A	T	4: 108,901,782 (GRCm39)	K617M	probably damaging	Het
Or2aj4	A	G	16: 19,385,009 (GRCm39)	L208P	probably damaging	Het
Or51ai2	A	G	7: 103,587,400 (GRCm39)	H271R	probably benign	Het
Or8b36	T	A	9: 37,937,762 (GRCm39)	I220N	probably damaging	Het
Or8b49	T	C	9: 38,506,252 (GRCm39)	M245T	probably benign	Het
Pcdhb11	A	G	18: 37,556,056 (GRCm39)	N462S	probably damaging	Het
Pfpl	G	T	19: 12,406,825 (GRCm39)	D359Y	probably damaging	Het
Pigu	A	T	2: 155,139,116 (GRCm39)	I313N	possibly damaging	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Psg16	T	A	7: 16,829,091 (GRCm39)	F225Y	possibly damaging	Het
Setdb2	T	A	14: 59,660,898 (GRCm39)	K82*	probably null	Het
Sgms1	A	G	19: 32,101,825 (GRCm39)	S394P	possibly damaging	Het
Slc16a1	T	C	3: 104,560,310 (GRCm39)	L205P	probably benign	Het
Slc19a1	T	A	10: 76,880,603 (GRCm39)	I380N	probably damaging	Het
Snx32	A	G	19: 5,548,042 (GRCm39)	I131T	probably benign	Het
Sorbs3	T	C	14: 70,430,053 (GRCm39)		probably null	Het
Stc2	T	A	11: 31,310,392 (GRCm39)	I215L	probably benign	Het
Tln2	C	T	9: 67,230,302 (GRCm39)	A84T	probably damaging	Het
Tomm34	A	G	2: 163,902,911 (GRCm39)	M133T	probably benign	Het
Usp43	A	G	11: 67,770,733 (GRCm39)	S634P	probably benign	Het
Vmn2r59	T	A	7: 41,661,749 (GRCm39)	R689*	probably null	Het
Vmn2r9	C	T	5: 108,992,902 (GRCm39)	R536Q	probably benign	Het
Wdr24	C	T	17: 26,043,579 (GRCm39)	H134Y	probably benign	Het
Zfhx2	T	A	14: 55,305,767 (GRCm39)		probably null	Het
Zfp1004	A	G	2: 150,034,725 (GRCm39)	K349E	probably damaging	Het
Zfp608	G	T	18: 55,120,944 (GRCm39)	H214Q	possibly damaging	Het
Zfp619	T	C	7: 39,184,558 (GRCm39)	V196A	probably benign	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
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'- GGTTTCCACCTCACCAAAGC -3'
(R):5'- GAAGGATCTGAACTCTGGCCAG -3'

Sequencing Primer
(F):5'- CACATTCTAGAAAGCTCTGTGATGGG -3'
(R):5'- CAATTCGCTCCCTTGTAG -3'

Posted On

2017-08-16