Mutagenetix > Incidental Mutation

Incidental Mutation 'R9595:Phyhipl'

723228

Institutional Source

Beutler Lab

Gene Symbol

Phyhipl

Ensembl Gene

ENSMUSG00000037747

Gene Name

phytanoyl-CoA hydroxylase interacting protein-like

Synonyms

4921522K17Rik, PHY2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9595 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70393516-70435121 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 70395512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 231 (C231*)

Ref Sequence

ENSEMBL: ENSMUSP00000045807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046513] [ENSMUST00000062883] [ENSMUST00000105436] [ENSMUST00000162251] [ENSMUST00000173042]

AlphaFold

Q8BGT8

Predicted Effect

probably null
Transcript: ENSMUST00000046513
AA Change: C231*

SMART Domains

Protein: ENSMUSP00000045807
Gene: ENSMUSG00000037747
AA Change: C231*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000062883

SMART Domains

Protein: ENSMUSP00000051375
Gene: ENSMUSG00000043259

Domain	Start	End	E-Value	Type
low complexity region	200	222	N/A	INTRINSIC
low complexity region	274	294	N/A	INTRINSIC
coiled coil region	304	372	N/A	INTRINSIC
coiled coil region	529	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105436

SMART Domains

Protein: ENSMUSP00000101076
Gene: ENSMUSG00000043259

Domain	Start	End	E-Value	Type
low complexity region	118	140	N/A	INTRINSIC
low complexity region	192	212	N/A	INTRINSIC
coiled coil region	222	290	N/A	INTRINSIC
coiled coil region	447	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162144

SMART Domains

Protein: ENSMUSP00000124828
Gene: ENSMUSG00000037747

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

Predicted Effect

probably null
Transcript: ENSMUST00000162251
AA Change: C186*

SMART Domains

Protein: ENSMUSP00000125179
Gene: ENSMUSG00000037747
AA Change: C186*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173042

SMART Domains

Protein: ENSMUSP00000134648
Gene: ENSMUSG00000043259

Domain	Start	End	E-Value	Type
low complexity region	200	222	N/A	INTRINSIC
low complexity region	274	294	N/A	INTRINSIC
coiled coil region	304	372	N/A	INTRINSIC
coiled coil region	528	556	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,464,566 (GRCm39)	M921T	probably benign	Het
Ankrd33	T	C	15: 101,013,785 (GRCm39)		probably null	Het
Azin2	A	G	4: 128,853,617 (GRCm39)	V80A	probably benign	Het
Capza3	A	T	6: 139,987,712 (GRCm39)	I104F	probably benign	Het
Cd177	A	G	7: 24,451,762 (GRCm39)	L418P	probably damaging	Het
Cd86	A	T	16: 36,441,275 (GRCm39)	V64D	probably damaging	Het
Cfap65	A	G	1: 74,946,537 (GRCm39)	S1352P	probably damaging	Het
Chst10	C	A	1: 38,913,029 (GRCm39)		probably null	Het
Cyp2j13	G	T	4: 95,933,797 (GRCm39)	C362*	probably null	Het
Ddn	T	C	15: 98,705,577 (GRCm39)	T40A	possibly damaging	Het
Dennd2b	C	T	7: 109,155,973 (GRCm39)	R259Q	probably damaging	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fermt3	C	T	19: 6,979,619 (GRCm39)	V505M	probably damaging	Het
Flnc	A	G	6: 29,433,720 (GRCm39)	H88R	probably benign	Het
Glyat	A	G	19: 12,623,728 (GRCm39)	D48G	probably damaging	Het
Hdac5	A	G	11: 102,096,129 (GRCm39)	V348A	probably benign	Het
Ighv2-3	T	C	12: 113,575,084 (GRCm39)	K24E	probably benign	Het
Iglv1	A	G	16: 18,903,948 (GRCm39)	V57A	possibly damaging	Het
Il16	G	T	7: 83,322,273 (GRCm39)	Y347*	probably null	Het
Il20rb	G	A	9: 100,368,311 (GRCm39)	T24M	possibly damaging	Het
Itgae	A	G	11: 73,016,182 (GRCm39)	D797G	probably damaging	Het
Lrrc37a	T	A	11: 103,392,552 (GRCm39)	T958S	probably benign	Het
Mall	G	T	2: 127,571,751 (GRCm39)	Y12*	probably null	Het
N4bp3	C	T	11: 51,536,932 (GRCm39)	R47Q	probably damaging	Het
Nacad	T	C	11: 6,551,790 (GRCm39)	D467G	probably damaging	Het
Or12k8	C	A	2: 36,975,204 (GRCm39)	K185N	possibly damaging	Het
Or13a18	T	C	7: 140,190,939 (GRCm39)	S279P	probably damaging	Het
Or1af1	T	A	2: 37,110,281 (GRCm39)	I260N	probably damaging	Het
Or4f61	T	C	2: 111,922,375 (GRCm39)	T224A	probably damaging	Het
Or7a40	G	A	16: 16,491,470 (GRCm39)	A125V	probably damaging	Het
Or7e177	A	G	9: 20,211,661 (GRCm39)	N56S	probably damaging	Het
Osbpl8	A	G	10: 111,108,909 (GRCm39)	E397G	probably damaging	Het
Pcmt1	A	T	10: 7,524,817 (GRCm39)	I111K	possibly damaging	Het
Pcnx1	T	A	12: 81,965,688 (GRCm39)	H90Q		Het
Pde4dip	C	T	3: 97,602,207 (GRCm39)		probably null	Het
Peli2	T	A	14: 48,493,846 (GRCm39)	V356D	probably damaging	Het
Pirb	A	T	7: 3,722,406 (GRCm39)	S146T	possibly damaging	Het
Rac1	G	A	5: 143,513,643 (GRCm39)		probably benign	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc38a8	C	A	8: 120,209,403 (GRCm39)	C390F	probably benign	Het
Slc39a8	G	T	3: 135,592,688 (GRCm39)	L454F	possibly damaging	Het
Slit1	A	C	19: 41,637,851 (GRCm39)	I314S	probably damaging	Het
Son	T	G	16: 91,454,241 (GRCm39)	M996R	possibly damaging	Het
Sp4	A	G	12: 118,262,690 (GRCm39)	V452A	possibly damaging	Het
Tmf1	C	T	6: 97,135,457 (GRCm39)	D940N	probably damaging	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trim33	C	T	3: 103,259,350 (GRCm39)	P1013L	probably damaging	Het
Vmn1r175	A	T	7: 23,508,508 (GRCm39)	S40T	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Wdr49	C	T	3: 75,265,747 (GRCm39)	C233Y	probably damaging	Het
Wrn	T	C	8: 33,758,961 (GRCm39)	E999G	probably benign	Het
Yju2b	C	T	8: 84,988,400 (GRCm39)	V76I	probably damaging	Het
Zfp142	A	T	1: 74,611,462 (GRCm39)	C778S	probably damaging	Het

Other mutations in Phyhipl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02140:Phyhipl	APN	10	70,406,660 (GRCm39)	missense	probably damaging	1.00
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
X0022:Phyhipl	UTSW	10	70,404,791 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCGCTGCTTACAAAATTCATC -3'
(R):5'- CAGACCTTTAGCAGTGGGTAGTG -3'

Sequencing Primer
(F):5'- ATCTCCTGGTGATCCCACAGG -3'
(R):5'- AGTGATTTGTGTGCCATTCGAATC -3'

Posted On

2022-08-09