Mutagenetix > Incidental Mutation

Incidental Mutation 'R5146:Oas1c'

395110

Institutional Source

Beutler Lab

Gene Symbol

Oas1c

Ensembl Gene

ENSMUSG00000001166

Gene Name

2'-5' oligoadenylate synthetase 1C

Synonyms

Oasl5

MMRRC Submission

042730-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120800194-120812514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120802094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 336 (S336P)

Ref Sequence

ENSEMBL: ENSMUSP00000112584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117193] [ENSMUST00000125547]

AlphaFold

Q924S2

Predicted Effect

probably benign
Transcript: ENSMUST00000117193
AA Change: S336P

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112584
Gene: ENSMUSG00000001166
AA Change: S336P

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	168	354	1.4e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130045

SMART Domains

Protein: ENSMUSP00000122510
Gene: ENSMUSG00000001166

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	89	146	3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201006

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,243,025	D1498G	possibly damaging	Het
Adcyap1r1	A	G	6: 55,484,972	I329V	probably benign	Het
Ahnak2	A	C	12: 112,775,726	H637Q	probably benign	Het
Carmil3	A	G	14: 55,497,179	D455G	probably benign	Het
Cdh7	A	G	1: 109,994,312	T45A	probably damaging	Het
Chil4	T	A	3: 106,202,834	T315S	probably benign	Het
Cntnap5c	T	C	17: 58,013,847	V138A	probably damaging	Het
Csmd1	T	C	8: 16,196,190	D1065G	probably damaging	Het
Cspp1	C	T	1: 10,074,876	R296*	probably null	Het
Dnah17	A	G	11: 118,114,179	M793T	probably damaging	Het
Dock4	A	G	12: 40,649,492		probably null	Het
Fgfr4	G	T	13: 55,165,912	L511F	probably damaging	Het
Gm14415	T	C	2: 177,104,231		noncoding transcript	Het
Gm7030	A	G	17: 36,129,015	W76R	probably damaging	Het
Gpam	A	G	19: 55,093,946	V91A	probably damaging	Het
Grin2b	T	A	6: 135,779,342	I462F	probably damaging	Het
Grwd1	A	T	7: 45,827,834	F210I	probably damaging	Het
Itfg1	T	C	8: 85,718,868	*611W	probably null	Het
Kcna2	T	C	3: 107,105,498	V465A	probably benign	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Myo15b	A	G	11: 115,891,198	T1444A	probably benign	Het
Nlgn3	G	A	X: 101,318,285	V287I	probably benign	Het
Pirb	T	C	7: 3,712,621		probably benign	Het
Pot1b	A	T	17: 55,672,865	Y330*	probably null	Het
Rnf20	A	T	4: 49,651,456	M641L	probably benign	Het
Sppl2b	T	C	10: 80,867,640	*579Q	probably null	Het
Sumf1	G	A	6: 108,185,310	P83S	probably benign	Het
Tmem101	C	T	11: 102,154,624	R133Q	probably benign	Het
Ttn	G	A	2: 76,870,363		probably benign	Het
Vmn2r84	A	G	10: 130,386,102	Y750H	probably damaging	Het
Zfp873	A	G	10: 82,060,224	Y300C	probably damaging	Het

Other mutations in Oas1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Oas1c	APN	5	120808679	missense	probably benign	0.00
IGL01472:Oas1c	APN	5	120802921	missense	probably damaging	1.00
IGL01931:Oas1c	APN	5	120805495	missense	probably benign	0.20
IGL02429:Oas1c	APN	5	120802068	missense	probably benign	0.30
IGL02498:Oas1c	APN	5	120805526	missense	possibly damaging	0.83
IGL02696:Oas1c	APN	5	120805463	missense	probably benign	0.44
IGL02957:Oas1c	APN	5	120805413	nonsense	probably null
sandshrew	UTSW	5	120808139	missense	probably damaging	0.99
R0562:Oas1c	UTSW	5	120805604	splice site	probably benign
R1819:Oas1c	UTSW	5	120808735	missense	possibly damaging	0.89
R1853:Oas1c	UTSW	5	120807995	missense	probably damaging	1.00
R1937:Oas1c	UTSW	5	120802984	missense	probably benign	0.00
R2248:Oas1c	UTSW	5	120802861	missense	possibly damaging	0.48
R2258:Oas1c	UTSW	5	120803017	missense	probably null	1.00
R2570:Oas1c	UTSW	5	120805438	missense	probably benign	0.05
R3965:Oas1c	UTSW	5	120808718	missense	probably damaging	1.00
R4164:Oas1c	UTSW	5	120808139	missense	probably damaging	0.99
R5875:Oas1c	UTSW	5	120805562	missense	probably damaging	1.00
R5938:Oas1c	UTSW	5	120805533	missense	probably benign	0.05
R7219:Oas1c	UTSW	5	120802892	missense	probably damaging	1.00
R7443:Oas1c	UTSW	5	120805419	missense	probably damaging	1.00
R7451:Oas1c	UTSW	5	120802142	missense	possibly damaging	0.57
R7578:Oas1c	UTSW	5	120802179	missense	probably damaging	1.00
R7788:Oas1c	UTSW	5	120801042	missense	probably benign
R8891:Oas1c	UTSW	5	120808061	missense	probably benign	0.00
R9013:Oas1c	UTSW	5	120805432	missense	probably damaging	1.00
R9544:Oas1c	UTSW	5	120808137	missense	probably benign	0.36
R9588:Oas1c	UTSW	5	120808137	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GGCCTCAGTTCTGAATCTCC -3'
(R):5'- AGCTTTGGATAGGGATGCAG -3'

Sequencing Primer
(F):5'- TCAAAGCCAGGTCTTCAGTG -3'
(R):5'- ATGCAGTGCTGGGCTCCTC -3'

Posted On

2016-06-21