Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Osgep'

719753

Institutional Source

Beutler Lab

Gene Symbol

Osgep

Ensembl Gene

ENSMUSG00000006289

Gene Name

O-sialoglycoprotein endopeptidase

Synonyms

PRSMG1, 1500019L24Rik, GCPL-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51152831-51162350 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 51162119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000049312] [ENSMUST00000049411] [ENSMUST00000128395] [ENSMUST00000136753] [ENSMUST00000154288] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000160393] [ENSMUST00000160538] [ENSMUST00000160835] [ENSMUST00000160890] [ENSMUST00000161166] [ENSMUST00000162177] [ENSMUST00000162957]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006452

SMART Domains

Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	186	1.1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049312

SMART Domains

Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	270	9.8e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049411

SMART Domains

Protein: ENSMUSP00000042602
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	308	1.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128395

SMART Domains

Protein: ENSMUSP00000116319
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	9	35	N/A	INTRINSIC
Pfam:Exo_endo_phos	59	280	2.3e-24	PFAM
Pfam:Exo_endo_phos_2	138	284	4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136753

SMART Domains

Protein: ENSMUSP00000123148
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	177	3.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154288

SMART Domains

Protein: ENSMUSP00000122343
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	214	1.1e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000159292

SMART Domains

Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	301	3.6e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160375

SMART Domains

Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	1	156	1.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160393

SMART Domains

Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	301	3.6e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160538

SMART Domains

Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	197	1.9e-82	PFAM
low complexity region	221	235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160835

SMART Domains

Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	4	277	2.8e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160890

SMART Domains

Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	79	1.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161166

SMART Domains

Protein: ENSMUSP00000125414
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	168	3.6e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161669

Predicted Effect

probably benign
Transcript: ENSMUST00000162177

SMART Domains

Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	1	220	1.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162957

SMART Domains

Protein: ENSMUSP00000123697
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	174	2.9e-64	PFAM

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	G	5: 50,118,207 (GRCm39)	Y1114H	possibly damaging	Het
Atp5pf	A	G	16: 84,625,358 (GRCm39)	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,613,526 (GRCm39)	I83L	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bglap3	T	C	3: 88,276,139 (GRCm39)	D71G	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,347,932 (GRCm39)	K15E	probably benign	Het
Chrm3	A	T	13: 9,927,462 (GRCm39)	W525R	probably damaging	Het
Col7a1	A	T	9: 108,784,420 (GRCm39)	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dnai1	A	G	4: 41,629,790 (GRCm39)		probably null	Het
Dnhd1	G	A	7: 105,344,740 (GRCm39)	G2028D	probably damaging	Het
Esyt3	C	T	9: 99,199,292 (GRCm39)	R773Q	probably damaging	Het
Ffar1	T	C	7: 30,560,025 (GRCm39)	T291A	probably benign	Het
Golga2	G	T	2: 32,178,313 (GRCm39)		probably benign	Het
Hapln2	T	A	3: 87,931,780 (GRCm39)		probably null	Het
Ing1	T	C	8: 11,611,889 (GRCm39)	L203P	probably benign	Het
Litafd	G	T	16: 8,501,177 (GRCm39)	C11F		Het
Mab21l4	T	C	1: 93,080,884 (GRCm39)	K341E	possibly damaging	Het
Med1	T	C	11: 98,062,586 (GRCm39)	T171A	possibly damaging	Het
Mib2	A	T	4: 155,741,952 (GRCm39)	L387H	probably damaging	Het
Mier1	A	G	4: 103,019,758 (GRCm39)	N494S	probably benign	Het
Myof	A	G	19: 37,896,054 (GRCm39)	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,465,162 (GRCm39)	V270D		Het
Nup160	T	C	2: 90,560,088 (GRCm39)	L1271S	possibly damaging	Het
Ptgfr	G	T	3: 151,541,445 (GRCm39)	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,120,739 (GRCm39)	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Smu1	A	G	4: 40,755,671 (GRCm39)	S65P	probably benign	Het
Spef2	T	C	15: 9,601,885 (GRCm39)	Y1459C	unknown	Het
Spen	A	G	4: 141,199,015 (GRCm39)	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,244,156 (GRCm39)		probably benign	Het
Timm44	G	A	8: 4,310,576 (GRCm39)	T392I	possibly damaging	Het
Tnc	A	T	4: 63,884,821 (GRCm39)	I1818N	probably damaging	Het
Trpm1	G	T	7: 63,803,616 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,857,347 (GRCm39)	Y231C	probably damaging	Het
Ube3b	A	G	5: 114,525,245 (GRCm39)	R23G	probably damaging	Het
Usp40	T	C	1: 87,935,117 (GRCm39)	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,595,149 (GRCm39)	S567R	probably benign	Het
Zfp112	T	C	7: 23,826,512 (GRCm39)	Y831H	probably damaging	Het
Zfy2	T	A	Y: 2,108,596 (GRCm39)	T355S		Het

Other mutations in Osgep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Osgep	APN	14	51,153,619 (GRCm39)	missense	probably benign	0.21
IGL02366:Osgep	APN	14	51,157,407 (GRCm39)	missense	probably damaging	0.98
IGL02800:Osgep	APN	14	51,153,314 (GRCm39)	utr 3 prime	probably benign
IGL03258:Osgep	APN	14	51,155,346 (GRCm39)	missense	possibly damaging	0.65
R3104:Osgep	UTSW	14	51,154,286 (GRCm39)	missense	probably benign	0.03
R3105:Osgep	UTSW	14	51,154,286 (GRCm39)	missense	probably benign	0.03
R3106:Osgep	UTSW	14	51,154,286 (GRCm39)	missense	probably benign	0.03
R3899:Osgep	UTSW	14	51,162,200 (GRCm39)	missense	probably damaging	1.00
R4608:Osgep	UTSW	14	51,155,378 (GRCm39)	missense	probably damaging	1.00
R5152:Osgep	UTSW	14	51,155,315 (GRCm39)	missense	probably damaging	0.99
R6169:Osgep	UTSW	14	51,157,209 (GRCm39)	missense	possibly damaging	0.88
R7009:Osgep	UTSW	14	51,162,165 (GRCm39)	missense	probably damaging	0.98
R7873:Osgep	UTSW	14	51,153,347 (GRCm39)	missense	probably damaging	0.99
R8054:Osgep	UTSW	14	51,162,128 (GRCm39)	unclassified	probably benign
R8477:Osgep	UTSW	14	51,155,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCGGAACACATATTTTCGG -3'
(R):5'- AAAGTCCCTTCGCTTGGTTC -3'

Sequencing Primer
(F):5'- GCCTTTAATTCCAGCAGTCAAGAGTC -3'
(R):5'- CCTTCGCTTGGTTCTGGGTTG -3'

Posted On

2022-07-18