Mutagenetix > Incidental Mutation

Incidental Mutation 'R0584:Oscp1'

56549

Institutional Source

Beutler Lab

Gene Symbol

Oscp1

Ensembl Gene

ENSMUSG00000042616

Gene Name

organic solute carrier partner 1

Synonyms

6030436A01Rik, 1810007P19Rik

MMRRC Submission

038774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0584 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

125952358-125985988 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 125977387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035497] [ENSMUST00000035497] [ENSMUST00000143712]

AlphaFold

Q8BHW2

Predicted Effect

probably null
Transcript: ENSMUST00000035497

SMART Domains

Protein: ENSMUSP00000045241
Gene: ENSMUSG00000042616

Domain	Start	End	E-Value	Type
Pfam:Oscp1	17	189	1.1e-83	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000035497

SMART Domains

Protein: ENSMUSP00000045241
Gene: ENSMUSG00000042616

Domain	Start	End	E-Value	Type
Pfam:Oscp1	17	189	1.1e-83	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129968

Predicted Effect

probably null
Transcript: ENSMUST00000143712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153138

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 93.7%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,847,564 (GRCm39)	S1745P	probably damaging	Het
Agfg2	G	A	5: 137,665,992 (GRCm39)	T89I	probably damaging	Het
Agtr1a	A	G	13: 30,565,017 (GRCm39)	I27M	probably damaging	Het
Armh1	A	T	4: 117,087,047 (GRCm39)	L206Q	probably damaging	Het
Asxl2	A	T	12: 3,546,632 (GRCm39)	E472V	probably damaging	Het
Atp2c2	T	A	8: 120,465,157 (GRCm39)	V313E	probably benign	Het
Casp12	A	G	9: 5,352,268 (GRCm39)	I87V	probably null	Het
Ccl25	C	T	8: 4,404,085 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,263,571 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,078 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,881,315 (GRCm39)	Y2587H	probably damaging	Het
Dppa3	T	C	6: 122,606,951 (GRCm39)	I147T	probably benign	Het
Fam120b	T	C	17: 15,622,384 (GRCm39)	S121P	probably damaging	Het
Fam209	C	T	2: 172,316,081 (GRCm39)	T152M	probably benign	Het
Fam98a	A	G	17: 75,851,772 (GRCm39)	L103P	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fitm1	T	C	14: 55,814,113 (GRCm39)	V203A	probably benign	Het
Gcn1	G	A	5: 115,733,074 (GRCm39)	R1037Q	probably damaging	Het
Gm11563	A	G	11: 99,549,451 (GRCm39)	I101T	unknown	Het
Gpd1l	A	G	9: 114,743,412 (GRCm39)	F163L	probably damaging	Het
Grp	C	A	18: 66,006,766 (GRCm39)	A30E	possibly damaging	Het
H1f7	C	A	15: 98,154,958 (GRCm39)	E64*	probably null	Het
Icosl	T	C	10: 77,907,709 (GRCm39)	Y90H	possibly damaging	Het
Itsn2	A	G	12: 4,747,180 (GRCm39)	T1194A	probably benign	Het
Lrp6	A	G	6: 134,433,039 (GRCm39)	S1431P	probably damaging	Het
Ltbp1	T	C	17: 75,670,467 (GRCm39)	S1503P	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Myh13	G	T	11: 67,251,200 (GRCm39)	E1360*	probably null	Het
Nop58	A	G	1: 59,745,919 (GRCm39)	D400G	probably benign	Het
Or5p79	T	C	7: 108,221,622 (GRCm39)	L201P	probably benign	Het
Or6c205	T	C	10: 129,086,817 (GRCm39)	V138A	probably benign	Het
Pde9a	A	T	17: 31,678,951 (GRCm39)	Y264F	probably damaging	Het
Pkhd1	T	A	1: 20,309,660 (GRCm39)	K2763*	probably null	Het
Prkci	T	A	3: 31,079,289 (GRCm39)	C42*	probably null	Het
Ptprr	T	C	10: 116,087,063 (GRCm39)	V270A	probably damaging	Het
Rsf1	T	A	7: 97,311,335 (GRCm39)	N688K	possibly damaging	Het
S1pr3	A	T	13: 51,573,697 (GRCm39)	M293L	probably benign	Het
Scn10a	A	C	9: 119,499,597 (GRCm39)	L232R	probably damaging	Het
Sirt5	T	A	13: 43,548,204 (GRCm39)		probably null	Het
Sp6	C	T	11: 96,913,091 (GRCm39)	T268M	probably damaging	Het
Spag5	A	G	11: 78,194,921 (GRCm39)	N76S	possibly damaging	Het
Tecta	T	C	9: 42,259,204 (GRCm39)	N1560D	possibly damaging	Het
Togaram1	T	C	12: 65,014,279 (GRCm39)	L510P	probably damaging	Het
Umps	A	G	16: 33,779,494 (GRCm39)	I401T	probably damaging	Het
Vars2	A	G	17: 35,977,578 (GRCm39)	V118A	possibly damaging	Het

Other mutations in Oscp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02875:Oscp1	APN	4	125,970,601 (GRCm39)	missense	probably damaging	1.00
R0655:Oscp1	UTSW	4	125,952,526 (GRCm39)	missense	probably damaging	1.00
R1218:Oscp1	UTSW	4	125,952,532 (GRCm39)	missense	probably benign	0.45
R1964:Oscp1	UTSW	4	125,977,415 (GRCm39)	missense	possibly damaging	0.78
R4852:Oscp1	UTSW	4	125,970,652 (GRCm39)	missense	possibly damaging	0.58
R4983:Oscp1	UTSW	4	125,970,555 (GRCm39)	missense	probably benign	0.16
R5183:Oscp1	UTSW	4	125,981,522 (GRCm39)	missense	probably damaging	1.00
R6525:Oscp1	UTSW	4	125,970,571 (GRCm39)	missense	possibly damaging	0.77
R6918:Oscp1	UTSW	4	125,970,571 (GRCm39)	missense	possibly damaging	0.77
R7022:Oscp1	UTSW	4	125,976,783 (GRCm39)	splice site	probably null
R7198:Oscp1	UTSW	4	125,980,459 (GRCm39)	missense	possibly damaging	0.51
R7483:Oscp1	UTSW	4	125,967,726 (GRCm39)	nonsense	probably null
R7777:Oscp1	UTSW	4	125,958,774 (GRCm39)	critical splice donor site	probably null
R7829:Oscp1	UTSW	4	125,982,201 (GRCm39)	missense	probably benign	0.03
R8052:Oscp1	UTSW	4	125,982,116 (GRCm39)	missense	possibly damaging	0.88
R8283:Oscp1	UTSW	4	125,980,393 (GRCm39)	missense	probably benign
R8500:Oscp1	UTSW	4	125,971,203 (GRCm39)	missense	possibly damaging	0.92
R8775:Oscp1	UTSW	4	125,970,619 (GRCm39)	missense	probably benign	0.02
R8775-TAIL:Oscp1	UTSW	4	125,970,619 (GRCm39)	missense	probably benign	0.02
R8871:Oscp1	UTSW	4	125,952,535 (GRCm39)	missense	probably damaging	1.00
R9726:Oscp1	UTSW	4	125,970,626 (GRCm39)	missense	probably benign	0.02
Z1177:Oscp1	UTSW	4	125,967,611 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGTGCTGAGCTTCACTTCCAAC -3'
(R):5'- TCCAGTGATCCACGGGTTTTGTTTC -3'

Sequencing Primer
(F):5'- ATAAGTTGGCCTGGAGACTG -3'
(R):5'- ctgttcatcctcctgcctc -3'

Posted On

2013-07-11