Mutagenetix > Incidental Mutation

Incidental Mutation 'R8775:Oscp1'

664651

Institutional Source

Beutler Lab

Gene Symbol

Oscp1

Ensembl Gene

ENSMUSG00000042616

Gene Name

organic solute carrier partner 1

Synonyms

6030436A01Rik, 1810007P19Rik

MMRRC Submission

068719-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125952358-125985988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125970619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 136 (V136A)

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: V126A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045241
Gene: ENSMUSG00000042616
AA Change: V126A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143712
AA Change: V136A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	C	6: 39,552,142 (GRCm39)		probably null	Het
Alpk3	A	C	7: 80,727,598 (GRCm39)	M243L	probably benign	Het
Anapc1	A	T	2: 128,499,093 (GRCm39)	Y860N	possibly damaging	Het
Asprv1	T	C	6: 86,605,321 (GRCm39)	S56P	probably damaging	Het
D130043K22Rik	G	T	13: 25,040,982 (GRCm39)	E135*	probably null	Het
Dnmt3b	A	G	2: 153,511,711 (GRCm39)	H293R	possibly damaging	Het
Dsg1a	C	T	18: 20,473,564 (GRCm39)	S879L	probably damaging	Het
Fbxo24	C	T	5: 137,611,213 (GRCm39)	A526T	possibly damaging	Het
Fign	A	T	2: 63,810,891 (GRCm39)	D126E	probably benign	Het
Gpr137	A	G	19: 6,915,800 (GRCm39)	F377L	probably damaging	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Iigp1	A	C	18: 60,523,596 (GRCm39)	Y238S	probably damaging	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Kcnip2	T	C	19: 45,782,149 (GRCm39)	N258S	possibly damaging	Het
Lcat	A	G	8: 106,669,023 (GRCm39)	I84T	possibly damaging	Het
Mansc1	C	T	6: 134,587,631 (GRCm39)	R182H	probably benign	Het
Myh4	T	C	11: 67,148,006 (GRCm39)	M1685T	probably benign	Het
Myo10	T	A	15: 25,800,145 (GRCm39)	V1407E	probably damaging	Het
Ncam2	T	A	16: 81,314,429 (GRCm39)	N468K	probably benign	Het
Nckap1	A	G	2: 80,375,410 (GRCm39)	S297P	probably benign	Het
Nefm	T	C	14: 68,362,108 (GRCm39)	Y52C	probably damaging	Het
Ntng2	A	T	2: 29,117,976 (GRCm39)	N157K	possibly damaging	Het
Oser1	G	A	2: 163,249,004 (GRCm39)	T66I	probably benign	Het
Palld	A	G	8: 62,138,006 (GRCm39)	L583P	possibly damaging	Het
Pex7	A	G	10: 19,760,522 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,004,204 (GRCm39)	Y378H	probably benign	Het
Prss33	T	A	17: 24,052,885 (GRCm39)	N263I	possibly damaging	Het
Psg25	A	C	7: 18,255,153 (GRCm39)	C454W	probably damaging	Het
Ptpn21	T	C	12: 98,649,001 (GRCm39)		probably null	Het
Sh3bp2	A	T	5: 34,719,751 (GRCm39)	S587C	probably damaging	Het
Sos2	A	G	12: 69,664,006 (GRCm39)	F493L	probably benign	Het
St8sia4	T	A	1: 95,519,472 (GRCm39)	T339S	possibly damaging	Het
Taok1	T	C	11: 77,470,632 (GRCm39)	K58E	probably benign	Het
Thsd1	A	G	8: 22,749,643 (GRCm39)	D838G	possibly damaging	Het
Tulp2	A	G	7: 45,164,914 (GRCm39)	T65A	probably benign	Het
Usp54	A	T	14: 20,638,466 (GRCm39)	S205T	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r37	A	T	7: 9,218,991 (GRCm39)	Y464*	probably null	Het
Wdsub1	A	G	2: 59,693,014 (GRCm39)	M300T	probably damaging	Het
Xrcc5	C	T	1: 72,433,089 (GRCm39)	T716I	probably benign	Het
Zfp619	G	T	7: 39,184,639 (GRCm39)	C223F	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
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-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'- GGCTGCTTTTCCTGCAATGG -3'
(R):5'- CCATGGTAACTACAAAATAGGCAGC -3'

Sequencing Primer
(F):5'- TGCAATGGCTCTGCTCAG -3'
(R):5'- CAAAATAGGCAGCTGTGGGATTTTAG -3'

Posted On

2021-03-08