Mutagenetix > Incidental Mutation

Incidental Mutation 'R5756:Phyhip'

445065

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

043359-MU

Accession Numbers

Essential gene?

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

Stock #

R5756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70694957-70706266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70704532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 250 (C250W)

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: C250W

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

SMART Domains

Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: C250W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,010,919 (GRCm39)		noncoding transcript	Het
Aqp6	A	T	15: 99,500,623 (GRCm39)	I183F	probably damaging	Het
Asap1	A	T	15: 64,039,556 (GRCm39)	M218K	probably damaging	Het
Astn2	G	A	4: 66,037,425 (GRCm39)		probably benign	Het
Bmp5	A	G	9: 75,683,649 (GRCm39)	D92G	probably benign	Het
Cables1	A	G	18: 12,074,410 (GRCm39)	D511G	probably damaging	Het
Cacna1e	A	G	1: 154,347,383 (GRCm39)	M928T	probably benign	Het
Calcoco1	T	C	15: 102,628,086 (GRCm39)	N16S	probably benign	Het
Catspere2	A	T	1: 177,943,793 (GRCm39)	Q710L	unknown	Het
Coro7	C	T	16: 4,450,148 (GRCm39)	R567Q	probably damaging	Het
Dgki	C	T	6: 36,913,993 (GRCm39)		probably benign	Het
Dusp11	T	C	6: 85,929,339 (GRCm39)	I147V	probably damaging	Het
Eif2ak4	T	C	2: 118,293,221 (GRCm39)	I1259T	possibly damaging	Het
Elapor2	A	C	5: 9,512,995 (GRCm39)	K996N	probably damaging	Het
Etfdh	T	C	3: 79,521,063 (GRCm39)	I219V	probably benign	Het
Ffar4	C	T	19: 38,102,406 (GRCm39)	T347I	probably damaging	Het
Fgf3	G	A	7: 144,396,688 (GRCm39)	S234N	probably benign	Het
Fnta	A	T	8: 26,499,735 (GRCm39)	I155N	possibly damaging	Het
Gcm2	G	A	13: 41,263,372 (GRCm39)	T20M	probably damaging	Het
Ggt5	A	T	10: 75,440,607 (GRCm39)	M243L	probably benign	Het
Ggta1	T	C	2: 35,292,395 (GRCm39)	Y304C	probably damaging	Het
Gm5454	A	G	13: 103,492,855 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hrc	T	C	7: 44,986,130 (GRCm39)	V427A	possibly damaging	Het
Ibtk	C	G	9: 85,613,307 (GRCm39)	V219L	possibly damaging	Het
Ift140	A	G	17: 25,247,787 (GRCm39)	H215R	possibly damaging	Het
Itln1	A	G	1: 171,344,485 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,973,754 (GRCm39)	I368T	probably damaging	Het
Lars2	T	C	9: 123,267,264 (GRCm39)	Y529H	probably damaging	Het
Lrrc55	G	A	2: 85,026,727 (GRCm39)	T99I	probably benign	Het
Mycbp2	A	T	14: 103,371,410 (GRCm39)	I4156N	probably damaging	Het
Myo1c	T	G	11: 75,549,240 (GRCm39)	M137R	probably benign	Het
Or51i1	T	C	7: 103,670,889 (GRCm39)	D212G	probably damaging	Het
Or6c8b	A	G	10: 128,882,095 (GRCm39)	V279A	probably benign	Het
Or8b54	T	A	9: 38,686,554 (GRCm39)	M1K	probably null	Het
Pde7a	A	G	3: 19,319,009 (GRCm39)	V12A	probably benign	Het
Pisd	G	A	5: 32,895,842 (GRCm39)	T412I	probably damaging	Het
Polr3c	T	C	3: 96,621,450 (GRCm39)	N444S	probably damaging	Het
Sart1	T	C	19: 5,430,497 (GRCm39)	E750G	probably damaging	Het
Sh3rf3	T	C	10: 58,940,204 (GRCm39)	V675A	probably damaging	Het
Slc4a11	G	T	2: 130,529,783 (GRCm39)	D307E	probably benign	Het
Slc6a16	A	T	7: 44,910,274 (GRCm39)	I315F	possibly damaging	Het
Smarca5	A	C	8: 81,437,233 (GRCm39)	S708A	probably benign	Het
Sv2c	T	C	13: 96,122,475 (GRCm39)	I434V	probably benign	Het
Tars3	A	G	7: 65,325,724 (GRCm39)	K433E	probably benign	Het
Tbx15	A	T	3: 99,220,402 (GRCm39)	I165F	probably damaging	Het
Tep1	C	T	14: 51,074,836 (GRCm39)		probably null	Het
Tex15	G	A	8: 34,065,861 (GRCm39)	G1764S	probably benign	Het
Tnfrsf19	A	G	14: 61,262,224 (GRCm39)	L13P	probably benign	Het
Tnnt3	G	A	7: 142,056,495 (GRCm39)		probably null	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Usp24	T	A	4: 106,219,680 (GRCm39)	I597K	probably damaging	Het
Usp40	C	T	1: 87,879,413 (GRCm39)	R960Q	possibly damaging	Het
Vps53	A	T	11: 75,983,156 (GRCm39)		probably benign	Het
Xylt1	C	T	7: 117,249,927 (GRCm39)	T699I	probably damaging	Het
Zfp81	A	C	17: 33,553,307 (GRCm39)	Y502*	probably null	Het
Zfyve26	T	A	12: 79,311,131 (GRCm39)	H145L	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
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
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'- TGCAACACGGAGTTCAACACAG -3'
(R):5'- GGATCTTTCTTGGCGTCAGC -3'

Sequencing Primer
(F):5'- CGGAGTTCAACACAGGCCAG -3'
(R):5'- TCAGCAGTGGACAGGCTCATG -3'

Posted On

2016-11-21