Mutagenetix > Incidental Mutation

Incidental Mutation 'R0655:Oscp1'

62469

Institutional Source

Beutler Lab

Gene Symbol

Oscp1

Ensembl Gene

ENSMUSG00000042616

Gene Name

organic solute carrier partner 1

Synonyms

6030436A01Rik, 1810007P19Rik

MMRRC Submission

038840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0655 (G1)

Quality Score

148

Status

Not validated

Chromosome

Chromosomal Location

125952358-125985988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125952526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 18 (L18P)

Ref Sequence

ENSEMBL: ENSMUSP00000152196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030675] [ENSMUST00000035497] [ENSMUST00000143712]

AlphaFold

Q8BHW2

Predicted Effect

probably benign
Transcript: ENSMUST00000030675

SMART Domains

Protein: ENSMUSP00000030675
Gene: ENSMUSG00000028861

Domain	Start	End	E-Value	Type
low complexity region	24	40	N/A	INTRINSIC
Ribosomal_S15	108	189	4.27e-16	SMART
coiled coil region	211	242	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000035497
AA Change: L18P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045241
Gene: ENSMUSG00000042616
AA Change: L18P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143712
AA Change: L18P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 36,268,737 (GRCm39)	I757M	probably benign	Het
Abtb3	A	G	10: 85,481,390 (GRCm39)	T931A	probably damaging	Het
Atg16l1	T	A	1: 87,694,551 (GRCm39)	I76N	probably damaging	Het
Baz1b	T	A	5: 135,271,284 (GRCm39)	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,740,285 (GRCm39)		probably null	Het
Cbl	G	T	9: 44,070,049 (GRCm39)	T566K	probably damaging	Het
Cd96	T	C	16: 45,919,482 (GRCm39)	K180E	probably benign	Het
Cpxm2	G	A	7: 131,656,549 (GRCm39)	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 26,736,046 (GRCm39)	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,743,871 (GRCm39)	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,780,342 (GRCm39)	I14N	probably damaging	Het
Eea1	A	G	10: 95,831,460 (GRCm39)	S184G	probably benign	Het
Eif1a	G	T	18: 46,741,130 (GRCm39)	G122C	probably damaging	Het
Esf1	T	A	2: 139,990,799 (GRCm39)	T562S	probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Fig4	T	C	10: 41,161,673 (GRCm39)	N30S	probably damaging	Het
Gria2	C	A	3: 80,639,377 (GRCm39)	E212*	probably null	Het
Gsdmc2	C	T	15: 63,699,622 (GRCm39)	A269T	probably benign	Het
Herc4	T	C	10: 63,109,350 (GRCm39)	V195A	probably benign	Het
Hivep1	T	C	13: 42,321,061 (GRCm39)	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,160,519 (GRCm39)	E519G	probably benign	Het
Htr2b	A	G	1: 86,038,565 (GRCm39)	S14P	probably benign	Het
Ifit1	T	C	19: 34,625,047 (GRCm39)	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,549,449 (GRCm39)	F77L	probably benign	Het
Matn2	T	C	15: 34,345,346 (GRCm39)	S118P	probably benign	Het
Mtmr3	C	A	11: 4,438,610 (GRCm39)	D615Y	probably damaging	Het
Mtss1	C	A	15: 58,953,351 (GRCm39)	C9F	probably damaging	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Nwd2	T	C	5: 63,948,928 (GRCm39)	S167P	possibly damaging	Het
Or1e34	T	C	11: 73,778,631 (GRCm39)	D189G	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,632 (GRCm39)	F102Y	probably damaging	Het
Or8b54	C	T	9: 38,686,850 (GRCm39)	Q100*	probably null	Het
Pax5	A	G	4: 44,537,462 (GRCm39)	S297P	probably damaging	Het
Phldb3	A	T	7: 24,323,797 (GRCm39)	D476V	probably benign	Het
Phlpp2	A	T	8: 110,622,219 (GRCm39)	I154L	probably benign	Het
Prx	T	A	7: 27,216,846 (GRCm39)	V449E	probably damaging	Het
Psd3	A	G	8: 68,416,341 (GRCm39)	S519P	probably benign	Het
Rnf138	T	G	18: 21,143,840 (GRCm39)	V128G	probably benign	Het
Safb	T	A	17: 56,904,803 (GRCm39)	S209T	probably benign	Het
Sbno1	C	A	5: 124,514,212 (GRCm39)	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,377,504 (GRCm39)	V176A	probably damaging	Het
Scd4	A	G	19: 44,327,407 (GRCm39)	H161R	possibly damaging	Het
Selenoo	T	A	15: 88,979,858 (GRCm39)	H335Q	probably damaging	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Spef2	T	C	15: 9,626,217 (GRCm39)	I1116M	possibly damaging	Het
Taf2	G	A	15: 54,901,690 (GRCm39)	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,006,899 (GRCm39)	E921G	probably damaging	Het
Tectb	G	A	19: 55,178,302 (GRCm39)	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,776,540 (GRCm39)	M606I	probably damaging	Het
Tmed10	T	A	12: 85,390,291 (GRCm39)	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,735,880 (GRCm39)	V31I	unknown	Het
Trp53inp2	G	T	2: 155,228,088 (GRCm39)	G98*	probably null	Het
Tssc4	A	G	7: 142,623,782 (GRCm39)	D30G	probably damaging	Het
Uaca	T	C	9: 60,779,311 (GRCm39)	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,838,235 (GRCm39)	T872I	probably damaging	Het
Unc80	A	G	1: 66,542,940 (GRCm39)	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,887,207 (GRCm39)	T112I	probably benign	Het
Vmn1r85	A	G	7: 12,818,650 (GRCm39)	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,387,319 (GRCm39)	C748*	probably null	Het
Wdr17	A	G	8: 55,102,233 (GRCm39)	W929R	probably damaging	Het
Yeats2	A	T	16: 20,012,574 (GRCm39)	K591*	probably null	Het
Zbtb9	T	A	17: 27,193,074 (GRCm39)	S160T	probably damaging	Het
Znfx1	T	A	2: 166,898,827 (GRCm39)	R32S	probably damaging	Het
Zng1	T	C	19: 24,930,684 (GRCm39)	M122V	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
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'- AATCCCCTGAAGCGATCTTTGTCAC -3'
(R):5'- GGCTCAGGCACTGTAAGTATGTCC -3'

Sequencing Primer
(F):5'- AATCCACCATGTGATTGGTTCG -3'
(R):5'- GCGTCTTTTGAGAAAGATACCCG -3'

Posted On

2013-07-30