Mutagenetix > Incidental Mutation

Incidental Mutation 'R6246:Phyhip'

505807

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

044436-MU

Accession Numbers

Essential gene?

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

Stock #

R6246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70694957-70706266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70704495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 238 (V238A)

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: V238A

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

SMART Domains

Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: V238A

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

0.8005

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,850,999 (GRCm39)	V2110E	probably damaging	Het
Acaca	C	A	11: 84,206,796 (GRCm39)	T1552K	probably benign	Het
Aknad1	A	G	3: 108,659,148 (GRCm39)	D54G	probably damaging	Het
Ano1	T	C	7: 144,187,462 (GRCm39)	T435A	possibly damaging	Het
Azgp1	A	G	5: 137,983,475 (GRCm39)	D50G	possibly damaging	Het
Bbx	A	G	16: 50,045,023 (GRCm39)	S513P	probably benign	Het
Ccdc85a	C	T	11: 28,526,897 (GRCm39)	S209N	probably damaging	Het
Cdca2	T	A	14: 67,915,277 (GRCm39)	R661*	probably null	Het
Cdhr2	T	C	13: 54,867,523 (GRCm39)	V451A	probably damaging	Het
Cenpt	C	T	8: 106,575,891 (GRCm39)	G152S	possibly damaging	Het
Chd9	A	G	8: 91,659,045 (GRCm39)	T2A	probably damaging	Het
Chst14	G	A	2: 118,757,482 (GRCm39)	C117Y	probably damaging	Het
Cic	C	T	7: 24,971,067 (GRCm39)	T266M	probably damaging	Het
Clec12a	A	T	6: 129,330,733 (GRCm39)	N105I	possibly damaging	Het
Cmah	G	A	13: 24,650,773 (GRCm39)	V525M	probably damaging	Het
Cplane1	T	A	15: 8,239,498 (GRCm39)	L1233H	probably damaging	Het
Cpt1a	T	C	19: 3,426,550 (GRCm39)	L572P	probably damaging	Het
Crybg2	T	C	4: 133,816,657 (GRCm39)	L1365P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg1	G	A	16: 31,484,468 (GRCm39)	S32N	probably benign	Het
Dnah14	T	C	1: 181,508,453 (GRCm39)	I1877T	probably benign	Het
Duox1	G	T	2: 122,157,655 (GRCm39)	G594C	probably damaging	Het
Eci2	T	C	13: 35,174,181 (GRCm39)	N127D	probably damaging	Het
Ecpas	A	G	4: 58,811,365 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,945,870 (GRCm39)	S1588P	probably damaging	Het
Fer1l4	T	A	2: 155,866,902 (GRCm39)	I1489F	probably damaging	Het
Flrt3	A	G	2: 140,501,721 (GRCm39)	Y636H	probably damaging	Het
Frmd5	T	A	2: 121,381,529 (GRCm39)	H62L	possibly damaging	Het
Gm6309	A	T	5: 146,107,050 (GRCm39)	Y99N	probably damaging	Het
Gm8225	T	C	17: 26,762,652 (GRCm39)	V281A	probably benign	Het
Grep1	C	A	17: 23,929,465 (GRCm39)	G315*	probably null	Het
Grsf1	A	G	5: 88,810,451 (GRCm39)	L353P	possibly damaging	Het
Gtf2a1l	A	G	17: 88,978,975 (GRCm39)	R58G	probably benign	Het
Guf1	G	A	5: 69,715,898 (GRCm39)	G113R	probably damaging	Het
Hfe	A	T	13: 23,892,212 (GRCm39)	F51I	probably damaging	Het
Hibch	T	C	1: 52,943,801 (GRCm39)	S250P	probably damaging	Het
Il1rap	T	A	16: 26,533,631 (GRCm39)	M509K	probably benign	Het
Il4ra	T	C	7: 125,175,577 (GRCm39)	V595A	probably benign	Het
Ints11	A	G	4: 155,972,546 (GRCm39)	T460A	probably benign	Het
Itprid1	A	T	6: 55,944,657 (GRCm39)	K459N	probably damaging	Het
Kdm5a	G	A	6: 120,408,871 (GRCm39)	G1518E	probably damaging	Het
Khsrp	T	C	17: 57,332,324 (GRCm39)	D289G	possibly damaging	Het
Kif14	C	T	1: 136,404,162 (GRCm39)	Q29*	probably null	Het
Krt72	T	C	15: 101,689,372 (GRCm39)	K320R	probably damaging	Het
Lcmt2	A	G	2: 120,970,870 (GRCm39)	L71P	probably damaging	Het
Lmo7	A	T	14: 102,156,136 (GRCm39)	D1037V	probably damaging	Het
Lpo	T	C	11: 87,713,058 (GRCm39)	T15A	unknown	Het
Mia3	G	T	1: 183,126,720 (GRCm39)	T7N	probably damaging	Het
Muc16	A	T	9: 18,488,363 (GRCm39)		probably null	Het
Mup9	T	A	4: 60,375,809 (GRCm39)	Y29F	probably damaging	Het
Nisch	T	C	14: 30,894,516 (GRCm39)	D1105G	probably damaging	Het
Odad1	A	G	7: 45,585,788 (GRCm39)	I116V	probably damaging	Het
Oip5	T	C	2: 119,446,101 (GRCm39)	T136A	probably benign	Het
Or2a52	G	A	6: 43,144,436 (GRCm39)		probably null	Het
Osbpl10	C	A	9: 115,055,842 (GRCm39)	N532K	probably benign	Het
P2ry12	C	T	3: 59,124,950 (GRCm39)	V242I	probably benign	Het
Pdhx	A	T	2: 102,877,137 (GRCm39)	C26S	probably damaging	Het
Pgk2	A	T	17: 40,518,315 (GRCm39)	I371K	probably damaging	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Pld5	A	T	1: 175,791,475 (GRCm39)	C448*	probably null	Het
Plk1	T	A	7: 121,768,659 (GRCm39)	I553N	probably damaging	Het
Ppp1r13l	T	A	7: 19,103,783 (GRCm39)	I88K	probably benign	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Septin7	A	G	9: 25,218,817 (GRCm39)	E428G	probably benign	Het
Serpina3j	G	A	12: 104,283,706 (GRCm39)	G268D	probably damaging	Het
Smc2	A	T	4: 52,460,289 (GRCm39)	D555V	probably damaging	Het
Spag16	A	T	1: 69,962,980 (GRCm39)	I376F	probably benign	Het
Spag6	G	A	2: 18,703,906 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,289,204 (GRCm39)	I454V	probably benign	Het
Tlcd3b	T	A	7: 126,426,668 (GRCm39)	F30L	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Traf5	C	T	1: 191,754,853 (GRCm39)	E28K	probably damaging	Het
Trav23	G	A	14: 54,214,885 (GRCm39)	E33K	probably damaging	Het
Trim32	T	C	4: 65,532,801 (GRCm39)	S453P	probably damaging	Het
Tssk1	A	G	16: 17,713,303 (GRCm39)	T363A	probably benign	Het
Txnrd3	A	G	6: 89,628,523 (GRCm39)	N88S	probably benign	Het
Unc13b	A	G	4: 43,216,246 (GRCm39)	S182G	probably benign	Het
Vmn2r89	A	T	14: 51,693,503 (GRCm39)	R284S	probably damaging	Het
Zbtb14	A	G	17: 69,694,478 (GRCm39)	T59A	possibly damaging	Het
Zcchc2	T	A	1: 105,957,796 (GRCm39)	S756T	possibly damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
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
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'- TTCTTCAGCTGCAACACGG -3'
(R):5'- GGATCTTTCTTGGCGTCAGC -3'

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

Posted On

2018-02-28