Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02875:Oscp1'

406181

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oscp1

Ensembl Gene

ENSMUSG00000042616

Gene Name

organic solute carrier partner 1

Synonyms

6030436A01Rik, 1810007P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02875

Quality Score

Status

Chromosome

Chromosomal Location

125952358-125985988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125970601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 130 (D130G)

Ref Sequence

ENSEMBL: ENSMUSP00000152196 (fasta)

Gene Model

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

AlphaFold

Q8BHW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035497
AA Change: D120G

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

SMART Domains

Protein: ENSMUSP00000045241
Gene: ENSMUSG00000042616
AA Change: D120G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143712
AA Change: D130G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,122,293 (GRCm39)	I397V	possibly damaging	Het
Asph	A	G	4: 9,595,380 (GRCm39)	S281P	probably damaging	Het
Bdnf	T	C	2: 109,554,196 (GRCm39)	V150A	probably damaging	Het
Birc6	T	C	17: 74,896,713 (GRCm39)	V1053A	probably damaging	Het
Btg4	T	A	9: 51,030,446 (GRCm39)	F182Y	probably benign	Het
Casc3	T	G	11: 98,712,378 (GRCm39)	V139G	probably damaging	Het
Ccno	C	A	13: 113,124,586 (GRCm39)	P52Q	possibly damaging	Het
Cdk1	T	G	10: 69,178,366 (GRCm39)		probably benign	Het
Daam2	A	C	17: 49,771,056 (GRCm39)	I887S	probably damaging	Het
Dmrta1	A	G	4: 89,579,985 (GRCm39)	D315G	possibly damaging	Het
Dnah6	T	C	6: 73,115,698 (GRCm39)	I1515V	probably damaging	Het
Dock7	A	T	4: 98,864,231 (GRCm39)	I1241K	probably benign	Het
Fam180a	T	C	6: 35,290,617 (GRCm39)	D122G	probably damaging	Het
Gm11992	C	T	11: 9,002,887 (GRCm39)		probably benign	Het
Il1b	A	G	2: 129,209,171 (GRCm39)	I153T	probably benign	Het
Kntc1	C	A	5: 123,916,340 (GRCm39)		probably null	Het
Krt77	T	C	15: 101,777,584 (GRCm39)	D157G	probably damaging	Het
Lmbr1	A	G	5: 29,497,186 (GRCm39)	S72P	probably damaging	Het
Mphosph9	T	A	5: 124,421,800 (GRCm39)		probably null	Het
Mpp4	C	T	1: 59,175,993 (GRCm39)		probably null	Het
Ncbp2	T	A	16: 31,772,971 (GRCm39)	L36Q	probably damaging	Het
Or2b7	T	A	13: 21,740,172 (GRCm39)	S7C	probably damaging	Het
Or4a72	T	C	2: 89,405,896 (GRCm39)	Y58C	probably damaging	Het
Or8b3	A	G	9: 38,314,472 (GRCm39)	M101V	probably damaging	Het
Pls1	A	T	9: 95,636,404 (GRCm39)	M615K	possibly damaging	Het
Prep	C	A	10: 45,034,529 (GRCm39)	H680Q	probably damaging	Het
Rad1	T	C	15: 10,493,365 (GRCm39)	I264T	probably benign	Het
Rhbdf1	A	G	11: 32,163,293 (GRCm39)	V393A	possibly damaging	Het
Skint3	A	T	4: 112,113,079 (GRCm39)	I230L	possibly damaging	Het
Slc9b1	T	A	3: 135,080,167 (GRCm39)		probably benign	Het
Slfn3	T	C	11: 83,104,253 (GRCm39)	Y375H	probably damaging	Het
Ssrp1	T	A	2: 84,871,264 (GRCm39)	I257N	probably damaging	Het
Svep1	A	G	4: 58,082,821 (GRCm39)		probably benign	Het
Tcl1b2	T	C	12: 105,120,358 (GRCm39)	*118Q	probably null	Het
Thsd7b	A	G	1: 129,879,130 (GRCm39)	Y989C	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vmn2r42	T	C	7: 8,197,852 (GRCm39)	T256A	probably benign	Het

Other mutations in Oscp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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: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

Posted On

2016-08-02