Mutagenetix > Incidental Mutation

Incidental Mutation 'R7046:Osgepl1'

547287

Institutional Source

Beutler Lab

Gene Symbol

Osgepl1

Ensembl Gene

ENSMUSG00000026096

Gene Name

O-sialoglycoprotein endopeptidase-like 1

Synonyms

MGC13061, 2610001M19Rik

MMRRC Submission

045144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53352783-53365502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53360710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 384 (I384F)

Ref Sequence

ENSEMBL: ENSMUSP00000110128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027265] [ENSMUST00000114484] [ENSMUST00000135614] [ENSMUST00000144660] [ENSMUST00000151296] [ENSMUST00000190734]

AlphaFold

Q6PEB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027265
AA Change: I384F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: I384F

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	59	365	1.1e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114484
AA Change: I384F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: I384F

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	59	365	1.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135614

SMART Domains

Protein: ENSMUSP00000137994
Gene: ENSMUSG00000026096

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	59	365	7.6e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144660

SMART Domains

Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913

Domain	Start	End	E-Value	Type
Pfam:GATase_7	59	162	1.4e-8	PFAM
Pfam:Asn_synthase	304	565	5.6e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151296

SMART Domains

Protein: ENSMUSP00000137772
Gene: ENSMUSG00000026096

Domain	Start	End	E-Value	Type
SCOP:d1huxa_	37	63	4e-8	SMART
PDB:3ZEU\|E	39	72	1e-5	PDB
low complexity region	78	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190734

SMART Domains

Protein: ENSMUSP00000141087
Gene: ENSMUSG00000100679

Domain	Start	End	E-Value	Type
Pfam:ORMDL	11	123	4.4e-38	PFAM
Pfam:Peptidase_M22	174	233	3.9e-14	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,772,364 (GRCm39)	Y805C	probably damaging	Het
Aoc1l3	T	A	6: 48,964,512 (GRCm39)	D173E	probably benign	Het
Cabp7	T	A	11: 4,688,886 (GRCm39)	I195F	probably damaging	Het
Camsap1	T	C	2: 25,835,201 (GRCm39)	N317S	probably damaging	Het
Ccdc127	T	G	13: 74,500,994 (GRCm39)	L4V	probably damaging	Het
Ccdc7a	T	C	8: 129,774,100 (GRCm39)	E145G	probably damaging	Het
Cdh10	T	A	15: 19,013,287 (GRCm39)	V629D	probably damaging	Het
Cdh23	A	C	10: 60,214,530 (GRCm39)	L1497R	probably damaging	Het
Chsy3	A	G	18: 59,542,875 (GRCm39)	K671R	probably benign	Het
Clca4b	T	C	3: 144,621,367 (GRCm39)	Y569C	probably damaging	Het
Cnga1	T	C	5: 72,786,696 (GRCm39)		probably benign	Het
Cyp51	T	A	5: 4,150,188 (GRCm39)	E178D	probably damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah14	G	T	1: 181,450,568 (GRCm39)	C727F	probably benign	Het
Egf	A	T	3: 129,548,607 (GRCm39)	W3R	unknown	Het
Egfem1	G	A	3: 29,136,364 (GRCm39)		probably null	Het
Epb41l1	G	T	2: 156,368,812 (GRCm39)	V682L	possibly damaging	Het
Etv1	A	G	12: 38,834,369 (GRCm39)		probably null	Het
Faap100	A	G	11: 120,268,200 (GRCm39)	F191S	possibly damaging	Het
Fmo1	T	A	1: 162,667,263 (GRCm39)	D184V	possibly damaging	Het
Ghrl	A	G	6: 113,696,344 (GRCm39)	L16P	probably damaging	Het
Gria4	T	A	9: 4,420,278 (GRCm39)	L861F	probably damaging	Het
Gsr	T	A	8: 34,185,090 (GRCm39)	M428K	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kbtbd12	A	G	6: 88,595,497 (GRCm39)	M111T	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,623 (GRCm39)	Y6*	probably null	Het
Lin9	A	G	1: 180,494,935 (GRCm39)	D219G	probably damaging	Het
Lrrc38	A	G	4: 143,076,739 (GRCm39)	M1V	probably null	Het
Macc1	T	G	12: 119,410,773 (GRCm39)	F514V	probably benign	Het
Madcam1	C	T	10: 79,504,139 (GRCm39)	R242C	probably benign	Het
Mfhas1	T	C	8: 36,131,944 (GRCm39)	S1037P	probably benign	Het
Micall2	C	T	5: 139,694,699 (GRCm39)		probably benign	Het
Mtr	C	A	13: 12,205,095 (GRCm39)	A1122S	possibly damaging	Het
Muc6	T	A	7: 141,226,456 (GRCm39)		probably benign	Het
Myh15	T	A	16: 48,929,662 (GRCm39)	C529*	probably null	Het
Napsa	T	C	7: 44,234,509 (GRCm39)	V247A	probably damaging	Het
Nr2c2	A	G	6: 92,135,338 (GRCm39)	T309A	probably damaging	Het
Or1e26	A	T	11: 73,480,558 (GRCm39)	I2K	probably benign	Het
Or1q1	T	A	2: 36,887,173 (GRCm39)	V117E	probably benign	Het
Or2n1b	A	T	17: 38,459,691 (GRCm39)	M71L	probably benign	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pds5b	A	G	5: 150,673,385 (GRCm39)	Y481C	probably damaging	Het
Pdzrn4	T	A	15: 92,668,303 (GRCm39)	Y818*	probably null	Het
Pin1rt1	T	C	2: 104,544,767 (GRCm39)	S122G	probably benign	Het
Pkdcc	A	T	17: 83,531,687 (GRCm39)	Y487F	probably damaging	Het
Plxna4	C	T	6: 32,493,440 (GRCm39)	C392Y	probably damaging	Het
Psd4	T	G	2: 24,284,985 (GRCm39)	M283R	probably benign	Het
Ralgds	G	T	2: 28,430,741 (GRCm39)	G68W	probably damaging	Het
Rmdn2	T	A	17: 79,928,808 (GRCm39)	I20N	probably damaging	Het
Sestd1	A	G	2: 77,022,910 (GRCm39)	V486A	probably benign	Het
Skic8	T	A	9: 54,626,539 (GRCm39)	D275V	probably damaging	Het
Spmap2	G	T	10: 79,422,796 (GRCm39)	D35E	probably benign	Het
Tango6	A	G	8: 107,533,748 (GRCm39)	H958R	possibly damaging	Het
Taok3	C	T	5: 117,411,771 (GRCm39)	R857C	probably damaging	Het
Tasor	A	T	14: 27,194,392 (GRCm39)	L1197F	probably damaging	Het
Trio	T	C	15: 27,832,137 (GRCm39)	E1245G	probably damaging	Het
Usp19	C	T	9: 108,374,334 (GRCm39)	H763Y	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,651 (GRCm39)	S285P	probably damaging	Het
Vmn1r45	T	G	6: 89,910,538 (GRCm39)	Y144S	probably benign	Het
Vwa3b	G	A	1: 37,212,959 (GRCm39)	E152K	probably benign	Het
Xrcc5	G	A	1: 72,433,875 (GRCm39)	M731I	probably benign	Het
Zfp619	G	A	7: 39,186,787 (GRCm39)	S939N	possibly damaging	Het
Zfp874a	C	A	13: 67,590,418 (GRCm39)	C422F	probably damaging	Het
Zfp948	A	G	17: 21,808,719 (GRCm39)	D637G	possibly damaging	Het

Other mutations in Osgepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Osgepl1	APN	1	53,359,405 (GRCm39)	missense	probably benign	0.07
IGL00774:Osgepl1	APN	1	53,359,405 (GRCm39)	missense	probably benign	0.07
IGL02672:Osgepl1	APN	1	53,359,270 (GRCm39)	missense	probably benign
IGL02932:Osgepl1	APN	1	53,360,675 (GRCm39)	missense	probably benign	0.01
IGL03269:Osgepl1	APN	1	53,360,271 (GRCm39)	nonsense	probably null
H8562:Osgepl1	UTSW	1	53,354,198 (GRCm39)	missense	probably damaging	1.00
R0100:Osgepl1	UTSW	1	53,362,372 (GRCm39)	missense	probably damaging	0.99
R0100:Osgepl1	UTSW	1	53,362,372 (GRCm39)	missense	probably damaging	0.99
R0519:Osgepl1	UTSW	1	53,360,255 (GRCm39)	missense	probably damaging	1.00
R0739:Osgepl1	UTSW	1	53,362,354 (GRCm39)	nonsense	probably null
R1724:Osgepl1	UTSW	1	53,357,062 (GRCm39)	missense	probably benign	0.06
R3793:Osgepl1	UTSW	1	53,359,406 (GRCm39)	missense	probably damaging	0.97
R4214:Osgepl1	UTSW	1	53,354,167 (GRCm39)	missense	probably damaging	1.00
R5009:Osgepl1	UTSW	1	53,357,339 (GRCm39)	missense	probably damaging	1.00
R5721:Osgepl1	UTSW	1	53,360,359 (GRCm39)	missense	possibly damaging	0.88
R5890:Osgepl1	UTSW	1	53,357,326 (GRCm39)	missense	probably damaging	1.00
R6479:Osgepl1	UTSW	1	53,360,702 (GRCm39)	missense	probably benign	0.00
R8464:Osgepl1	UTSW	1	53,357,299 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGACAATGGCATCATGATTGC -3'
(R):5'- ACCTGCAGAGATAGGCCATATC -3'

Sequencing Primer
(F):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'
(R):5'- AGATAGGCCATATCTCATATAGCTTG -3'

Posted On

2019-05-13