Mutagenetix > Incidental Mutation

Incidental Mutation 'R6853:Oas1a'

535085

Institutional Source

Beutler Lab

Gene Symbol

Oas1a

Ensembl Gene

ENSMUSG00000052776

Gene Name

2'-5' oligoadenylate synthetase 1A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120896256-120907521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120907428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 17 (I17L)

Ref Sequence

ENSEMBL: ENSMUSP00000079198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080322]

AlphaFold

P11928

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080322
AA Change: I17L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079198
Gene: ENSMUSG00000052776
AA Change: I17L

Domain	Start	End	E-Value	Type
Pfam:NTP_transf_2	38	139	9.8e-14	PFAM
Pfam:OAS1_C	164	349	1.9e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	T	15: 12,817,945	D138E	probably benign	Het
Atp13a5	A	G	16: 29,321,662	S359P	possibly damaging	Het
Bcam	T	C	7: 19,760,406	D355G	probably damaging	Het
Bmp8a	C	A	4: 123,342,683	W9L	unknown	Het
Cacul1	A	T	19: 60,529,466	Y334*	probably null	Het
Ccdc178	A	T	18: 22,109,876	N227K	probably benign	Het
Ceacam2	T	C	7: 25,518,136	N318S	possibly damaging	Het
Cntrl	T	A	2: 35,129,821	S553R	possibly damaging	Het
Ctsa	T	A	2: 164,837,364	M331K	probably benign	Het
Cyp2c38	T	A	19: 39,438,304	Q184H	probably benign	Het
Cyp2c70	C	T	19: 40,183,920	E93K	possibly damaging	Het
D430041D05Rik	C	T	2: 104,241,155	V1267M	probably damaging	Het
Ddias	C	T	7: 92,859,565	A381T	possibly damaging	Het
Dnhd1	G	A	7: 105,703,728	C2696Y	probably benign	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Farp2	T	C	1: 93,570,016	F256S	probably damaging	Het
Fga	A	G	3: 83,030,912	Y198C	probably damaging	Het
Gabpa	T	A	16: 84,860,499	C421S	probably damaging	Het
Gm21798	A	T	15: 64,817,865		probably benign	Het
Gm21798	A	T	15: 64,817,867		probably benign	Het
Gm7145	A	C	1: 117,986,144	N252T	possibly damaging	Het
H2-Q6	T	C	17: 35,428,359	*327R	probably null	Het
H6pd	T	C	4: 149,982,462	D489G	probably benign	Het
Htra2	A	G	6: 83,053,831		probably benign	Het
Ice1	T	G	13: 70,603,302	E1555A	possibly damaging	Het
Inpp5d	T	A	1: 87,681,680		probably null	Het
Itih2	T	C	2: 10,115,266	D320G	probably damaging	Het
Kif1a	T	G	1: 93,039,802	H1129P	possibly damaging	Het
Kmt2a	G	A	9: 44,818,407		probably benign	Het
L3mbtl4	G	A	17: 68,777,920	D609N	probably damaging	Het
Lgals9	A	T	11: 78,966,006	D248E	probably benign	Het
Lhx9	ACC	ACCC	1: 138,841,806		probably null	Het
Msh3	A	G	13: 92,312,572		probably null	Het
Mtus2	A	G	5: 148,107,011	K803R	probably damaging	Het
Olfr1480	T	A	19: 13,529,931	I130K	possibly damaging	Het
Olfr178	C	T	16: 58,889,758	S154N	possibly damaging	Het
Olfr178	T	A	16: 58,889,759	S154C	probably damaging	Het
Olfr851	T	G	9: 19,496,806	Y19*	probably null	Het
Olfr92	G	A	17: 37,111,508	T158I	probably benign	Het
Otof	T	C	5: 30,388,239	D539G	probably damaging	Het
Pabpc4	T	C	4: 123,294,743	Y382H	possibly damaging	Het
Rag1	T	C	2: 101,642,221	T859A	probably damaging	Het
Ralbp1	C	T	17: 65,852,756	R504H	possibly damaging	Het
Sdk2	A	G	11: 113,780,929	F2131S	probably damaging	Het
Sik1	A	T	17: 31,854,206		probably null	Het
Sis	A	G	3: 72,891,426	I1763T	possibly damaging	Het
Slc39a6	A	G	18: 24,599,319	I304T	possibly damaging	Het
Slc5a12	A	G	2: 110,624,194	S367G	probably benign	Het
Smchd1	A	T	17: 71,436,743	W476R	probably damaging	Het
Spag17	T	C	3: 100,013,235	Y429H	possibly damaging	Het
Stt3a	G	A	9: 36,741,727	S553F	possibly damaging	Het
Sult2a1	C	T	7: 13,801,487	V214I	possibly damaging	Het
Supt6	T	C	11: 78,232,830	E38G	possibly damaging	Het
Tenm4	G	A	7: 96,837,295	G990R	possibly damaging	Het
Thop1	T	C	10: 81,075,661		probably null	Het
Thumpd2	C	A	17: 81,065,030	D11Y	possibly damaging	Het
Tmf1	T	G	6: 97,168,849	I574L	probably damaging	Het
Tnfaip3	A	G	10: 19,003,751	V623A	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Ush2a	T	G	1: 188,911,237	Y4265*	probably null	Het
Vamp5	G	A	6: 72,380,441		probably benign	Het
Vmn2r12	A	T	5: 109,092,905	L114Q	probably damaging	Het
Vmn2r98	A	T	17: 19,065,801	Y187F	probably benign	Het

Other mutations in Oas1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01822:Oas1a	APN	5	120899214	missense	probably benign	0.01
IGL02299:Oas1a	APN	5	120905692	missense	probably benign
IGL02951:Oas1a	APN	5	120905664	missense	probably damaging	1.00
IGL03112:Oas1a	APN	5	120898349	missense	possibly damaging	0.95
IGL03230:Oas1a	APN	5	120898356	missense	probably benign	0.23
IGL03356:Oas1a	APN	5	120905845	missense	probably damaging	0.99
IGL03379:Oas1a	APN	5	120896999	missense	possibly damaging	0.70
R0625:Oas1a	UTSW	5	120899259	missense	probably damaging	1.00
R1279:Oas1a	UTSW	5	120897178	critical splice donor site	probably null
R1914:Oas1a	UTSW	5	120905813	missense	possibly damaging	0.48
R1915:Oas1a	UTSW	5	120905813	missense	possibly damaging	0.48
R4758:Oas1a	UTSW	5	120907338	missense	probably damaging	1.00
R4928:Oas1a	UTSW	5	120905724	missense	probably benign
R5267:Oas1a	UTSW	5	120899221	missense	probably benign	0.00
R5442:Oas1a	UTSW	5	120897206	missense	probably benign	0.00
R5487:Oas1a	UTSW	5	120907427	missense	probably damaging	1.00
R6880:Oas1a	UTSW	5	120901940	missense	probably damaging	0.97
R7953:Oas1a	UTSW	5	120897017	missense	probably benign	0.32
R8043:Oas1a	UTSW	5	120897017	missense	probably benign	0.32
R8363:Oas1a	UTSW	5	120905839	missense	probably damaging	1.00
R8738:Oas1a	UTSW	5	120901956	missense	probably damaging	1.00
R8863:Oas1a	UTSW	5	120905880	missense	probably damaging	1.00
R9474:Oas1a	UTSW	5	120899254	missense	probably damaging	1.00
R9475:Oas1a	UTSW	5	120899254	missense	probably damaging	1.00
R9612:Oas1a	UTSW	5	120901965	missense	possibly damaging	0.70
Z1177:Oas1a	UTSW	5	120901895	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- ACCCCATTCAGTCAGCTCAG -3'
(R):5'- TCTTTCCTAGGTGGGATCCTAAG -3'

Sequencing Primer
(F):5'- TTCAGTCAGCTCAGGCAGAGG -3'
(R):5'- TGGGATCCTAAGAAAGCTCAGACTTC -3'

Posted On

2018-09-12