Mutagenetix > Incidental Mutation

Incidental Mutation 'R6918:Oscp1'

539438

Institutional Source

Beutler Lab

Gene Symbol

Oscp1

Ensembl Gene

ENSMUSG00000042616

Gene Name

organic solute carrier partner 1

Synonyms

6030436A01Rik, 1810007P19Rik

MMRRC Submission

045005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6918 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125952358-125985988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125970571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 120 (D120A)

Ref Sequence

ENSEMBL: ENSMUSP00000152196 (fasta)

Gene Model

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

AlphaFold

Q8BHW2

Predicted Effect

probably benign
Transcript: ENSMUST00000035497
AA Change: D110A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045241
Gene: ENSMUSG00000042616
AA Change: D110A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143712
AA Change: D120A

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	C	17: 24,627,632 (GRCm39)	K1359Q	probably damaging	Het
Ace	T	C	11: 105,863,769 (GRCm39)	Y406H	probably damaging	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,599,643 (GRCm39)	Y1959N	possibly damaging	Het
Chrna7	T	A	7: 62,809,299 (GRCm39)	I76F	probably benign	Het
Cuedc1	C	T	11: 88,077,899 (GRCm39)	T296I	probably benign	Het
Ddc	A	G	11: 11,769,307 (GRCm39)	V409A	probably damaging	Het
Dhx8	T	A	11: 101,629,247 (GRCm39)	Y212*	probably null	Het
Dnah6	T	A	6: 73,158,738 (GRCm39)	K622*	probably null	Het
Dscaml1	A	G	9: 45,341,805 (GRCm39)	H72R	probably benign	Het
Dyrk1b	A	G	7: 27,885,350 (GRCm39)	D396G	probably damaging	Het
Gstm2	A	G	3: 107,892,557 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,425 (GRCm39)	Y189H	probably damaging	Het
Kif1c	G	A	11: 70,597,813 (GRCm39)	E356K	probably damaging	Het
Kirrel2	A	C	7: 30,150,239 (GRCm39)	C17G	probably damaging	Het
Klhl12	A	G	1: 134,403,584 (GRCm39)	H259R	possibly damaging	Het
Krt1	A	G	15: 101,758,612 (GRCm39)	V184A	probably damaging	Het
Lmod2	A	T	6: 24,603,594 (GRCm39)	N190Y	probably benign	Het
Lrp2	A	C	2: 69,319,649 (GRCm39)	V1958G	probably damaging	Het
Ly6h	T	C	15: 75,437,507 (GRCm39)	S37G	probably damaging	Het
Man2a2	A	T	7: 80,002,940 (GRCm39)	H1056Q	possibly damaging	Het
Misp3	T	G	8: 84,738,313 (GRCm39)	M1L	probably benign	Het
Mixl1	T	A	1: 180,522,243 (GRCm39)	I213F	probably benign	Het
Morc3	T	C	16: 93,650,023 (GRCm39)	I268T	probably benign	Het
Mtx2	C	T	2: 74,706,697 (GRCm39)	T224I	probably damaging	Het
Or8c15	G	A	9: 38,120,948 (GRCm39)	V198M	possibly damaging	Het
Parp1	G	A	1: 180,416,235 (GRCm39)	V545I	possibly damaging	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pkp2	A	G	16: 16,090,082 (GRCm39)	Y790C	probably damaging	Het
Pomt1	T	A	2: 32,142,873 (GRCm39)		probably null	Het
Pp2d1	G	A	17: 53,822,487 (GRCm39)	T193M	probably damaging	Het
Prkra	G	T	2: 76,460,797 (GRCm39)	H300Q	probably damaging	Het
Ror2	T	G	13: 53,265,487 (GRCm39)	N523T	probably damaging	Het
Rp1	A	T	1: 4,069,831 (GRCm39)	D1355E	unknown	Het
Rsph4a	T	C	10: 33,781,272 (GRCm39)	Y41H	probably benign	Het
Scn1a	T	A	2: 66,162,557 (GRCm39)	I230F	probably damaging	Het
Taar7e	T	A	10: 23,913,513 (GRCm39)	M1K	probably null	Het
Tex15	T	G	8: 34,063,212 (GRCm39)	L1155V	probably benign	Het
Tmprss3	T	C	17: 31,407,331 (GRCm39)	K321E	probably benign	Het
Trappc14	A	G	5: 138,258,926 (GRCm39)	V211A	probably benign	Het
Tsc2	A	T	17: 24,832,203 (GRCm39)	C728S	probably damaging	Het
Ube2e3	A	T	2: 78,750,383 (GRCm39)	K203M	probably damaging	Het
Unc50	A	T	1: 37,477,783 (GRCm39)	T222S	probably damaging	Het
Vmn1r236	A	T	17: 21,507,878 (GRCm39)	H332L	probably benign	Het
Vmn2r7	G	A	3: 64,598,760 (GRCm39)	T599I	probably benign	Het
Zfp334	A	T	2: 165,223,799 (GRCm39)	D81E	possibly damaging	Het
Zfp710	A	G	7: 79,731,788 (GRCm39)	I322V	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
R0584:Oscp1	UTSW	4	125,977,387 (GRCm39)	critical splice acceptor site	probably null
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
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'- TGGCTTTAGGGACAACGCATG -3'
(R):5'- GTGGCAAGTTTTGACCCTGTC -3'

Sequencing Primer
(F):5'- TAGGGACAACGCATGTGGCC -3'
(R):5'- GTCCTTGCAAGCATAGAATCTGC -3'

Posted On

2018-11-06