Mutagenetix > Incidental Mutation

Incidental Mutation 'R5390:Pcyox1l'

425543

Institutional Source

Beutler Lab

Gene Symbol

Pcyox1l

Ensembl Gene

ENSMUSG00000024579

Gene Name

prenylcysteine oxidase 1 like

Synonyms

MMRRC Submission

042962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5390 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61829908-61840706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61832433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 205 (I205V)

Ref Sequence

ENSEMBL: ENSMUSP00000025472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025472] [ENSMUST00000195229]

AlphaFold

Q8C7K6

Predicted Effect

probably benign
Transcript: ENSMUST00000025472
AA Change: I205V

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025472
Gene: ENSMUSG00000024579
AA Change: I205V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:NAD_binding_8	31	98	2.8e-12	PFAM
Pfam:Amino_oxidase	36	380	3.5e-11	PFAM
Pfam:Prenylcys_lyase	120	491	1.3e-145	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154763

Predicted Effect

probably benign
Transcript: ENSMUST00000195229

SMART Domains

Protein: ENSMUSP00000142249
Gene: ENSMUSG00000024579

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DAO	28	108	2.7e-6	PFAM
Pfam:NAD_binding_8	31	99	2e-11	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,772 (GRCm39)		probably benign	Het
Anxa4	G	A	6: 86,730,865 (GRCm39)	T104M	probably damaging	Het
BC048562	G	T	9: 108,313,777 (GRCm39)	W9L	probably damaging	Het
Cachd1	T	A	4: 100,838,203 (GRCm39)	M822K	probably damaging	Het
Clec4g	C	A	8: 3,768,441 (GRCm39)	V97L	probably benign	Het
Ddx19a	G	A	8: 111,707,263 (GRCm39)	Q176*	probably null	Het
Eml6	T	C	11: 29,710,096 (GRCm39)	H1413R	probably damaging	Het
Fam161b	C	T	12: 84,395,408 (GRCm39)	V512M	probably damaging	Het
Glcci1	A	T	6: 8,537,835 (GRCm39)	Q151L	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Gpnmb	A	T	6: 49,024,775 (GRCm39)	D269V	probably damaging	Het
Gpx3	A	T	11: 54,800,375 (GRCm39)	D191V	probably damaging	Het
Grm4	C	T	17: 27,653,712 (GRCm39)	C491Y	probably damaging	Het
H2-M10.4	T	A	17: 36,771,533 (GRCm39)	H215L	probably damaging	Het
Hrc	T	A	7: 44,984,909 (GRCm39)	L20Q	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Hydin	A	T	8: 111,322,099 (GRCm39)	I4584L	probably benign	Het
Ift70a2	A	T	2: 75,807,630 (GRCm39)	L294Q	probably damaging	Het
Ints5	T	A	19: 8,873,931 (GRCm39)	I630K	possibly damaging	Het
Kctd10	A	G	5: 114,503,764 (GRCm39)	I296T	possibly damaging	Het
Ltv1	G	A	10: 13,058,103 (GRCm39)	R234C	probably damaging	Het
Macf1	A	G	4: 123,365,546 (GRCm39)	S1507P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Ms4a4d	T	C	19: 11,526,004 (GRCm39)		probably null	Het
Net1	C	T	13: 3,943,379 (GRCm39)	A3T	probably benign	Het
Nlrp2	T	C	7: 5,303,908 (GRCm39)	M206V	probably benign	Het
Or1j1	C	T	2: 36,702,444 (GRCm39)	R220H	probably benign	Het
Or5an1b	T	A	19: 12,299,505 (GRCm39)	I229F	probably damaging	Het
Pigo	A	G	4: 43,019,645 (GRCm39)		probably null	Het
Pla2g6	A	T	15: 79,173,893 (GRCm39)	S590T	possibly damaging	Het
Pwp2	T	C	10: 78,013,605 (GRCm39)	T539A	possibly damaging	Het
Rag1	T	C	2: 101,473,079 (GRCm39)	T688A	probably benign	Het
Senp7	A	G	16: 55,990,279 (GRCm39)	T676A	probably benign	Het
Slc26a6	T	C	9: 108,738,499 (GRCm39)		probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Sorbs2	A	G	8: 46,272,778 (GRCm39)	H653R	probably damaging	Het
Stk3	T	A	15: 35,114,706 (GRCm39)	K67*	probably null	Het
Tctn2	A	ACC	5: 124,762,400 (GRCm39)		probably benign	Homo
Ttn	T	C	2: 76,540,395 (GRCm39)	Y34197C	probably damaging	Het
Ufc1	A	C	1: 171,117,746 (GRCm39)	L56R	probably damaging	Het
Usp34	T	A	11: 23,394,202 (GRCm39)		probably null	Het
Vnn3	T	A	10: 23,727,483 (GRCm39)	M1K	probably null	Het
Zfp653	C	A	9: 21,969,099 (GRCm39)		probably null	Het

Other mutations in Pcyox1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Pcyox1l	APN	18	61,830,613 (GRCm39)	missense	probably benign	0.01
IGL02036:Pcyox1l	APN	18	61,840,607 (GRCm39)	unclassified	probably benign
IGL02478:Pcyox1l	APN	18	61,830,780 (GRCm39)	missense	probably benign	0.34
R0036:Pcyox1l	UTSW	18	61,830,492 (GRCm39)	missense	probably benign	0.13
R0325:Pcyox1l	UTSW	18	61,830,964 (GRCm39)	missense	possibly damaging	0.90
R1726:Pcyox1l	UTSW	18	61,830,849 (GRCm39)	missense	probably benign	0.38
R4457:Pcyox1l	UTSW	18	61,830,939 (GRCm39)	missense	probably benign	0.01
R4763:Pcyox1l	UTSW	18	61,830,850 (GRCm39)	missense	probably benign	0.38
R4811:Pcyox1l	UTSW	18	61,830,606 (GRCm39)	missense	possibly damaging	0.67
R4876:Pcyox1l	UTSW	18	61,832,565 (GRCm39)	missense	probably damaging	0.96
R4983:Pcyox1l	UTSW	18	61,832,468 (GRCm39)	missense	probably damaging	0.98
R5813:Pcyox1l	UTSW	18	61,832,359 (GRCm39)	splice site	probably null
R5933:Pcyox1l	UTSW	18	61,831,544 (GRCm39)	missense	probably benign	0.05
R7018:Pcyox1l	UTSW	18	61,840,625 (GRCm39)	unclassified	probably benign
R7356:Pcyox1l	UTSW	18	61,840,621 (GRCm39)	missense	probably null
R7384:Pcyox1l	UTSW	18	61,831,461 (GRCm39)	missense	probably damaging	1.00
R7393:Pcyox1l	UTSW	18	61,830,712 (GRCm39)	missense	probably benign	0.43
R8125:Pcyox1l	UTSW	18	61,840,576 (GRCm39)	missense	unknown
R9173:Pcyox1l	UTSW	18	61,830,663 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGGCCATGGTAGTAAGCC -3'
(R):5'- GTGTTCAGAGACATCACCAGC -3'

Sequencing Primer
(F):5'- TAAGCCACAGGGTCTTCATG -3'
(R):5'- TGAAAGCCTGTCTGCACAAGATTC -3'

Posted On

2016-08-04