Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02140:Phyhipl'

281507

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phyhipl

Ensembl Gene

ENSMUSG00000037747

Gene Name

phytanoyl-CoA hydroxylase interacting protein-like

Synonyms

4921522K17Rik, PHY2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02140

Quality Score

Status

Chromosome

Chromosomal Location

70393516-70435121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70406660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 53 (K53R)

Ref Sequence

ENSEMBL: ENSMUSP00000125179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046513] [ENSMUST00000162251] [ENSMUST00000162793]

AlphaFold

Q8BGT8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046513
AA Change: K98R

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

SMART Domains

Protein: ENSMUSP00000045807
Gene: ENSMUSG00000037747
AA Change: K98R

Domain	Start	End	E-Value	Type
FN3	49	142	6.16e-2	SMART
Blast:FN3	188	262	2e-45	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000162144
AA Change: K85R

SMART Domains

Protein: ENSMUSP00000124828
Gene: ENSMUSG00000037747
AA Change: K85R

Domain	Start	End	E-Value	Type
FN3	37	130	6.16e-2	SMART
Blast:FN3	176	212	1e-15	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000162251
AA Change: K53R

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

SMART Domains

Protein: ENSMUSP00000125179
Gene: ENSMUSG00000037747
AA Change: K53R

Domain	Start	End	E-Value	Type
FN3	4	97	6.16e-2	SMART
Blast:FN3	143	217	9e-46	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162470

Predicted Effect

probably benign
Transcript: ENSMUST00000162793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163054

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,195,034 (GRCm39)	V144I	probably benign	Het
B3gat1	A	G	9: 26,669,043 (GRCm39)	K325E	possibly damaging	Het
Cd36	T	A	5: 18,033,766 (GRCm39)		probably benign	Het
Ces3a	A	G	8: 105,782,263 (GRCm39)	E325G	probably benign	Het
Col1a2	G	A	6: 4,515,639 (GRCm39)	G136D	unknown	Het
Cyp3a25	T	G	5: 145,946,273 (GRCm39)		probably benign	Het
Cyp3a59	T	C	5: 146,039,690 (GRCm39)	L321P	probably damaging	Het
Dag1	A	G	9: 108,095,391 (GRCm39)	S34P	probably damaging	Het
Defa27	A	T	8: 21,805,674 (GRCm39)	K13*	probably null	Het
Disp2	T	C	2: 118,621,350 (GRCm39)	F694S	probably benign	Het
Dnah12	G	T	14: 26,437,732 (GRCm39)	A454S	probably benign	Het
Dync2h1	A	T	9: 7,147,791 (GRCm39)	D946E	probably benign	Het
Fcgbp	A	G	7: 27,791,379 (GRCm39)	E880G	probably damaging	Het
Fgfr4	T	C	13: 55,308,992 (GRCm39)	V371A	probably benign	Het
Frem3	G	T	8: 81,340,736 (GRCm39)	V1010F	possibly damaging	Het
Gm13283	G	A	4: 88,679,272 (GRCm39)	V88I	probably benign	Het
Gm5134	G	A	10: 75,821,945 (GRCm39)	V260I	probably benign	Het
Grhl2	A	G	15: 37,270,830 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,820,920 (GRCm39)	W1090R	probably damaging	Het
Hydin	G	A	8: 111,293,570 (GRCm39)	V3506I	probably benign	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Iglv3	T	A	16: 19,060,160 (GRCm39)	Q56L	probably damaging	Het
Impg2	T	A	16: 56,079,831 (GRCm39)	M436K	probably benign	Het
Kcnma1	T	A	14: 23,359,113 (GRCm39)	K1110N	probably damaging	Het
Marf1	T	C	16: 13,959,776 (GRCm39)	E694G	probably damaging	Het
Nup37	A	C	10: 87,994,791 (GRCm39)	K118T	probably benign	Het
Or10al7	A	G	17: 38,366,481 (GRCm39)	M1T	probably null	Het
Or4a73	T	C	2: 89,420,586 (GRCm39)	E291G	probably damaging	Het
P3h1	A	G	4: 119,095,062 (GRCm39)	D273G	probably damaging	Het
Pcsk9	T	C	4: 106,311,843 (GRCm39)	D178G	probably benign	Het
Pkp3	T	G	7: 140,669,249 (GRCm39)	L697R	probably damaging	Het
Rab11fip3	A	G	17: 26,286,866 (GRCm39)	V429A	probably benign	Het
Rgl2	A	G	17: 34,152,098 (GRCm39)	N295S	probably damaging	Het
Spag5	A	T	11: 78,206,459 (GRCm39)	D817V	possibly damaging	Het
Tas2r117	C	A	6: 132,780,558 (GRCm39)	T232K	probably benign	Het
Thumpd1	A	G	7: 119,316,232 (GRCm39)	V239A	possibly damaging	Het
Timd4	T	A	11: 46,710,841 (GRCm39)	S248T	possibly damaging	Het
Tmem207	A	T	16: 26,335,490 (GRCm39)	N82K	probably benign	Het
Ttn	T	A	2: 76,538,557 (GRCm39)	T34714S	possibly damaging	Het
Vmn1r194	G	A	13: 22,428,706 (GRCm39)	V108I	probably benign	Het
Vmn2r24	T	A	6: 123,757,631 (GRCm39)	S166R	probably damaging	Het
Vmn2r32	A	G	7: 7,479,696 (GRCm39)	F159S	probably damaging	Het
Wdr72	A	T	9: 74,117,505 (GRCm39)	Q739L	probably benign	Het

Other mutations in Phyhipl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03374:Phyhipl	APN	10	70,401,109 (GRCm39)	missense	possibly damaging	0.47
PIT4366001:Phyhipl	UTSW	10	70,404,788 (GRCm39)	missense	probably benign
R0512:Phyhipl	UTSW	10	70,404,748 (GRCm39)	missense	probably damaging	0.99
R0688:Phyhipl	UTSW	10	70,395,085 (GRCm39)	missense	probably damaging	1.00
R1136:Phyhipl	UTSW	10	70,404,902 (GRCm39)	missense	probably damaging	1.00
R1465:Phyhipl	UTSW	10	70,406,798 (GRCm39)	missense	probably damaging	1.00
R1465:Phyhipl	UTSW	10	70,406,798 (GRCm39)	missense	probably damaging	1.00
R1802:Phyhipl	UTSW	10	70,434,855 (GRCm39)	missense	probably benign
R1978:Phyhipl	UTSW	10	70,395,591 (GRCm39)	missense	possibly damaging	0.94
R4077:Phyhipl	UTSW	10	70,404,903 (GRCm39)	missense	probably damaging	1.00
R4960:Phyhipl	UTSW	10	70,404,815 (GRCm39)	missense	probably benign	0.40
R4976:Phyhipl	UTSW	10	70,404,904 (GRCm39)	missense	probably damaging	1.00
R5119:Phyhipl	UTSW	10	70,404,904 (GRCm39)	missense	probably damaging	1.00
R5739:Phyhipl	UTSW	10	70,395,399 (GRCm39)	missense	possibly damaging	0.92
R6303:Phyhipl	UTSW	10	70,395,387 (GRCm39)	splice site	probably null
R6304:Phyhipl	UTSW	10	70,395,387 (GRCm39)	splice site	probably null
R6649:Phyhipl	UTSW	10	70,404,843 (GRCm39)	missense	probably damaging	1.00
R9150:Phyhipl	UTSW	10	70,404,887 (GRCm39)	missense	probably damaging	1.00
R9237:Phyhipl	UTSW	10	70,406,720 (GRCm39)	missense	possibly damaging	0.82
R9293:Phyhipl	UTSW	10	70,401,116 (GRCm39)	missense	probably damaging	0.97
R9461:Phyhipl	UTSW	10	70,395,243 (GRCm39)	missense	possibly damaging	0.95
R9595:Phyhipl	UTSW	10	70,395,512 (GRCm39)	nonsense	probably null
X0022:Phyhipl	UTSW	10	70,404,791 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16