Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Oas1d'

31409

Institutional Source

Beutler Lab

Gene Symbol

Oas1d

Ensembl Gene

ENSMUSG00000032623

Gene Name

2'-5' oligoadenylate synthetase 1D

Synonyms

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120914536-120921652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120917028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 221 (Y221F)

Ref Sequence

ENSEMBL: ENSMUSP00000048054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044224]

AlphaFold

Q8VI95

Predicted Effect

probably damaging
Transcript: ENSMUST00000044224
AA Change: Y221F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: Y221F

Domain	Start	End	E-Value	Type
low complexity region	107	119	N/A	INTRINSIC
Pfam:OAS1_C	168	353	9.4e-76	PFAM

Meta Mutation Damage Score

0.7406

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Homozygous null females exhibit reduced fertility due to defects in ovarian follicle development and decreased efficiency of ovulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	Het

Other mutations in Oas1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Oas1d	APN	5	120919207	missense	possibly damaging	0.90
IGL01062:Oas1d	APN	5	120919064	nonsense	probably null
IGL01114:Oas1d	APN	5	120916844	missense	probably benign	0.08
IGL02336:Oas1d	APN	5	120919048	missense	probably damaging	1.00
IGL02444:Oas1d	APN	5	120920008	missense	probably benign	0.25
R0080:Oas1d	UTSW	5	120916892	missense	possibly damaging	0.61
R0674:Oas1d	UTSW	5	120919986	missense	probably benign
R1344:Oas1d	UTSW	5	120914896	missense	probably damaging	1.00
R1719:Oas1d	UTSW	5	120919962	missense	possibly damaging	0.79
R1771:Oas1d	UTSW	5	120915837	missense	probably damaging	0.98
R3810:Oas1d	UTSW	5	120914986	missense	probably damaging	1.00
R4516:Oas1d	UTSW	5	120919170	missense	probably damaging	1.00
R4559:Oas1d	UTSW	5	120916895	missense	probably benign	0.00
R4819:Oas1d	UTSW	5	120915717	missense	probably damaging	1.00
R4926:Oas1d	UTSW	5	120915768	missense	probably benign
R5199:Oas1d	UTSW	5	120919145	missense	probably benign	0.03
R5392:Oas1d	UTSW	5	120916940	missense	possibly damaging	0.95
R5695:Oas1d	UTSW	5	120915011	missense	probably benign
R5769:Oas1d	UTSW	5	120916854	missense	probably benign	0.00
R6259:Oas1d	UTSW	5	120919181	nonsense	probably null
R7276:Oas1d	UTSW	5	120916881	missense	possibly damaging	0.48
R7446:Oas1d	UTSW	5	120919991	missense	probably benign
R7808:Oas1d	UTSW	5	120914971	nonsense	probably null
R7976:Oas1d	UTSW	5	120919147	missense	probably damaging	1.00
R8284:Oas1d	UTSW	5	120919158	nonsense	probably null
R9446:Oas1d	UTSW	5	120916884	missense	probably benign	0.00
Z1176:Oas1d	UTSW	5	120914914	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAAACTTTGCCCTGTTCGCCG -3'
(R):5'- AGGGAAGGGCTCCCTTAATGATCTG -3'

Sequencing Primer
(F):5'- CCCATAGACAGTGATTGTGACC -3'
(R):5'- gcttccctcaatgatgccc -3'

Posted On

2013-04-24