Mutagenetix > Incidental Mutation

Incidental Mutation 'R5938:Oas1c'

462369

Institutional Source

Beutler Lab

Gene Symbol

Oas1c

Ensembl Gene

ENSMUSG00000001166

Gene Name

2'-5' oligoadenylate synthetase 1C

Synonyms

Oasl5

MMRRC Submission

044131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120938259-120950579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120943598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 180 (H180Q)

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: H180Q

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112584
Gene: ENSMUSG00000001166
AA Change: H180Q

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

94% (63/67)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,333,400 (GRCm39)	D503E	possibly damaging	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Cacna1d	C	T	14: 29,825,692 (GRCm39)	V1001I	probably damaging	Het
Calhm3	T	C	19: 47,140,516 (GRCm39)	I192M	probably damaging	Het
Cep44	A	G	8: 57,000,457 (GRCm39)	S19P	possibly damaging	Het
Cxcl15	T	A	5: 90,949,225 (GRCm39)	I130K	unknown	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Emc1	T	G	4: 139,084,931 (GRCm39)	H167Q	probably benign	Het
Epb41l3	T	G	17: 69,566,066 (GRCm39)	Y416D	probably damaging	Het
Erbb2	G	A	11: 98,326,397 (GRCm39)	R1007H	probably damaging	Het
Esr1	A	G	10: 4,916,245 (GRCm39)		probably benign	Het
Fat4	G	A	3: 39,005,388 (GRCm39)	R1929Q	probably damaging	Het
Fsip2	T	A	2: 82,807,835 (GRCm39)	C1385S	probably benign	Het
Gbf1	T	C	19: 46,256,891 (GRCm39)	I777T	probably damaging	Het
Gm16092	T	G	1: 85,440,689 (GRCm39)		noncoding transcript	Het
Greb1	T	A	12: 16,767,259 (GRCm39)	K314N	probably damaging	Het
Iigp1c	C	A	18: 60,378,724 (GRCm39)	N86K	probably damaging	Het
Ipcef1	A	G	10: 6,858,029 (GRCm39)		probably benign	Het
Iqank1	G	A	15: 75,917,281 (GRCm39)	E305K	possibly damaging	Het
Mgat4a	C	A	1: 37,491,344 (GRCm39)	L292F	probably damaging	Het
Mill1	A	G	7: 17,996,613 (GRCm39)	N143S	probably benign	Het
Mindy1	A	G	3: 95,201,067 (GRCm39)	T324A	probably benign	Het
Mpdz	T	A	4: 81,202,851 (GRCm39)	H1882L	probably damaging	Het
Ncapg2	T	A	12: 116,393,277 (GRCm39)	W494R	probably damaging	Het
Or2q1	T	A	6: 42,794,701 (GRCm39)	C99S	probably damaging	Het
Or4c108	T	C	2: 88,803,357 (GRCm39)	M293V	probably benign	Het
Or4k49	A	G	2: 111,494,708 (GRCm39)	M46V	probably benign	Het
Or5ak20	A	T	2: 85,183,620 (GRCm39)	S217T	probably damaging	Het
Or6c88	A	G	10: 129,407,396 (GRCm39)	R291G	probably damaging	Het
Pelp1	A	G	11: 70,285,693 (GRCm39)	V725A	probably damaging	Het
Plxna4	T	C	6: 32,211,541 (GRCm39)	E666G	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,059,755 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,432,411 (GRCm39)	D285G	probably damaging	Het
Rasa2	A	G	9: 96,493,442 (GRCm39)	S81P	possibly damaging	Het
Rhd	T	A	4: 134,623,287 (GRCm39)	F418Y	probably benign	Het
Rnf207	T	C	4: 152,402,385 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Ryr1	A	C	7: 28,746,290 (GRCm39)	L3830R	probably damaging	Het
Sgsh	A	G	11: 119,237,625 (GRCm39)	Y330H	probably benign	Het
Sh3bp5	T	C	14: 31,109,791 (GRCm39)	E130G	possibly damaging	Het
Slc29a3	A	G	10: 60,588,563 (GRCm39)		probably benign	Het
Slco1a5	A	G	6: 142,194,443 (GRCm39)	L400P	probably damaging	Het
Snd1	A	G	6: 28,874,858 (GRCm39)		probably null	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Tas2r110	A	T	6: 132,845,016 (GRCm39)	I16L	probably benign	Het
Tmx3	T	A	18: 90,546,058 (GRCm39)	V213D	possibly damaging	Het
Uba2	A	T	7: 33,864,915 (GRCm39)		probably null	Het
Wfikkn1	T	A	17: 26,097,886 (GRCm39)	D112V	probably damaging	Het
Zfhx4	A	G	3: 5,467,198 (GRCm39)	N2452S	probably damaging	Het

Other mutations in Oas1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Oas1c	APN	5	120,946,744 (GRCm39)	missense	probably benign	0.00
IGL01472:Oas1c	APN	5	120,940,986 (GRCm39)	missense	probably damaging	1.00
IGL01931:Oas1c	APN	5	120,943,560 (GRCm39)	missense	probably benign	0.20
IGL02429:Oas1c	APN	5	120,940,133 (GRCm39)	missense	probably benign	0.30
IGL02498:Oas1c	APN	5	120,943,591 (GRCm39)	missense	possibly damaging	0.83
IGL02696:Oas1c	APN	5	120,943,528 (GRCm39)	missense	probably benign	0.44
IGL02957:Oas1c	APN	5	120,943,478 (GRCm39)	nonsense	probably null
sandshrew	UTSW	5	120,946,204 (GRCm39)	missense	probably damaging	0.99
R0562:Oas1c	UTSW	5	120,943,669 (GRCm39)	splice site	probably benign
R1819:Oas1c	UTSW	5	120,946,800 (GRCm39)	missense	possibly damaging	0.89
R1853:Oas1c	UTSW	5	120,946,060 (GRCm39)	missense	probably damaging	1.00
R1937:Oas1c	UTSW	5	120,941,049 (GRCm39)	missense	probably benign	0.00
R2248:Oas1c	UTSW	5	120,940,926 (GRCm39)	missense	possibly damaging	0.48
R2258:Oas1c	UTSW	5	120,941,082 (GRCm39)	missense	probably null	1.00
R2570:Oas1c	UTSW	5	120,943,503 (GRCm39)	missense	probably benign	0.05
R3965:Oas1c	UTSW	5	120,946,783 (GRCm39)	missense	probably damaging	1.00
R4164:Oas1c	UTSW	5	120,946,204 (GRCm39)	missense	probably damaging	0.99
R5146:Oas1c	UTSW	5	120,940,159 (GRCm39)	missense	probably benign	0.08
R5875:Oas1c	UTSW	5	120,943,627 (GRCm39)	missense	probably damaging	1.00
R7219:Oas1c	UTSW	5	120,940,957 (GRCm39)	missense	probably damaging	1.00
R7443:Oas1c	UTSW	5	120,943,484 (GRCm39)	missense	probably damaging	1.00
R7451:Oas1c	UTSW	5	120,940,207 (GRCm39)	missense	possibly damaging	0.57
R7578:Oas1c	UTSW	5	120,940,244 (GRCm39)	missense	probably damaging	1.00
R7788:Oas1c	UTSW	5	120,939,107 (GRCm39)	missense	probably benign
R8891:Oas1c	UTSW	5	120,946,126 (GRCm39)	missense	probably benign	0.00
R9013:Oas1c	UTSW	5	120,943,497 (GRCm39)	missense	probably damaging	1.00
R9544:Oas1c	UTSW	5	120,946,202 (GRCm39)	missense	probably benign	0.36
R9588:Oas1c	UTSW	5	120,946,202 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- ACACATAGGGTCCACAGGATC -3'
(R):5'- ATTCACTTACAGAGGTGTGGTG -3'

Sequencing Primer
(F):5'- ATAGGGTCCACAGGATCTGGGTC -3'
(R):5'- TGCTGAGGACAAACTTTGCC -3'

Posted On

2017-02-28