Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02366:Osgep'

290719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osgep

Ensembl Gene

ENSMUSG00000006289

Gene Name

O-sialoglycoprotein endopeptidase

Synonyms

PRSMG1, 1500019L24Rik, GCPL-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02366

Quality Score

Status

Chromosome

Chromosomal Location

51152831-51162350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51157407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 72 (D72G)

Ref Sequence

ENSEMBL: ENSMUSP00000125155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000160393] [ENSMUST00000160890] [ENSMUST00000162177]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006452
AA Change: D72G

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289
AA Change: D72G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157760

Predicted Effect

probably damaging
Transcript: ENSMUST00000159292
AA Change: D72G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289
AA Change: D72G

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 damaging
Transcript: ENSMUST00000160393
AA Change: D72G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289
AA Change: D72G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160464

Predicted Effect

probably benign
Transcript: ENSMUST00000160890
AA Change: D72G

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289
AA Change: D72G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162850

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	A	15: 12,810,859 (GRCm39)	H339L	probably benign	Het
Abcc1	T	C	16: 14,285,843 (GRCm39)		probably benign	Het
Ankrd55	T	C	13: 112,454,994 (GRCm39)	Y3H	probably damaging	Het
Armcx4	A	C	X: 133,592,261 (GRCm39)	K723T	possibly damaging	Het
Brinp3	T	A	1: 146,577,481 (GRCm39)	V172D	possibly damaging	Het
Cemip	C	T	7: 83,592,849 (GRCm39)	R1226Q	probably benign	Het
Cntn5	A	T	9: 9,984,060 (GRCm39)		probably benign	Het
Cyld	T	C	8: 89,456,381 (GRCm39)	V474A	probably damaging	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Efhc1	A	G	1: 21,030,486 (GRCm39)	N140D	probably damaging	Het
Eif6	A	G	2: 155,668,092 (GRCm39)	V49A	probably benign	Het
Epha4	G	T	1: 77,403,348 (GRCm39)	Y386*	probably null	Het
Ggnbp2	T	C	11: 84,732,427 (GRCm39)	K222R	probably damaging	Het
Gm5117	T	C	8: 32,227,887 (GRCm39)		noncoding transcript	Het
Gm5852	A	T	3: 93,634,568 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,340,048 (GRCm39)	V243A	probably benign	Het
Hal	A	G	10: 93,339,390 (GRCm39)	N493S	probably damaging	Het
Insrr	A	G	3: 87,717,216 (GRCm39)	T731A	possibly damaging	Het
Irs4	A	T	X: 140,506,900 (GRCm39)	L432H	probably damaging	Het
Kdm4a	T	G	4: 118,017,703 (GRCm39)		probably null	Het
Lhx4	T	C	1: 155,580,934 (GRCm39)	D197G	possibly damaging	Het
Mllt10	T	A	2: 18,069,898 (GRCm39)	M18K	probably damaging	Het
Nars1	T	C	18: 64,636,599 (GRCm39)	T422A	possibly damaging	Het
Ncf2	A	G	1: 152,710,824 (GRCm39)	D445G	probably benign	Het
Ndor1	C	A	2: 25,137,993 (GRCm39)	G544V	possibly damaging	Het
Notch3	C	A	17: 32,363,179 (GRCm39)	R1268L	probably benign	Het
Or51ac3	A	T	7: 103,213,622 (GRCm39)	V288D	probably damaging	Het
Or5b117	T	C	19: 13,431,491 (GRCm39)	Y130C	probably damaging	Het
Or6c202	A	T	10: 128,996,494 (GRCm39)	Y120N	probably damaging	Het
Or8g2	T	C	9: 39,821,288 (GRCm39)	L63P	probably damaging	Het
Pank4	C	T	4: 155,054,085 (GRCm39)	T88I	probably benign	Het
Pcgf6	T	C	19: 47,038,894 (GRCm39)	E122G	possibly damaging	Het
Ppp1r21	A	G	17: 88,855,090 (GRCm39)	H123R	probably damaging	Het
Prex1	A	C	2: 166,422,347 (GRCm39)	L28R	probably damaging	Het
Rbl1	A	T	2: 157,016,813 (GRCm39)	N595K	probably benign	Het
Rnf148	T	C	6: 23,654,058 (GRCm39)	I313V	probably benign	Het
Rnf220	T	C	4: 117,346,980 (GRCm39)	N144S	probably benign	Het
Sbno2	G	A	10: 79,900,036 (GRCm39)	T577I	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Slco1a5	A	T	6: 142,195,941 (GRCm39)	V354D	possibly damaging	Het
Slit2	A	T	5: 48,461,410 (GRCm39)	T1486S	possibly damaging	Het
Snd1	T	C	6: 28,707,149 (GRCm39)		probably benign	Het
Sval3	T	C	6: 41,946,659 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,688,258 (GRCm39)	L1239P	probably damaging	Het
Trpm6	T	C	19: 18,755,874 (GRCm39)		probably benign	Het
Ttc9	A	C	12: 81,678,384 (GRCm39)	D69A	possibly damaging	Het
Ttn	A	T	2: 76,593,580 (GRCm39)	L20687M	probably benign	Het
Zfp748	T	A	13: 67,693,546 (GRCm39)		probably benign	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
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
R9537:Osgep	UTSW	14	51,162,119 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16