Mutagenetix > Incidental Mutation

Incidental Mutation 'R5695:Oas1d'

443873

Institutional Source

Beutler Lab

Gene Symbol

Oas1d

Ensembl Gene

ENSMUSG00000032623

Gene Name

2'-5' oligoadenylate synthetase 1D

Synonyms

MMRRC Submission

043326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5695 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121052881-121059711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121053074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 43 (M43T)

Ref Sequence

ENSEMBL: ENSMUSP00000048054 (fasta)

Gene Model

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

AlphaFold

Q8VI95

Predicted Effect

probably benign
Transcript: ENSMUST00000044224
AA Change: M43T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: M43T

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (58/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,660,745 (GRCm39)	H116L	probably damaging	Het
Anapc4	C	T	5: 53,019,581 (GRCm39)	S581L	probably benign	Het
Ano8	A	C	8: 71,935,887 (GRCm39)	D276E	probably damaging	Het
Aspm	G	A	1: 139,407,407 (GRCm39)	R2098H	probably benign	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Bpifb4	G	A	2: 153,784,843 (GRCm39)	G184S	probably damaging	Het
Cbx8	T	C	11: 118,930,137 (GRCm39)	D152G	probably benign	Het
Cdca2	A	G	14: 67,943,078 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,680,945 (GRCm39)	A531V	probably benign	Het
Cmya5	C	A	13: 93,182,374 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,935,769 (GRCm39)	S365P	probably damaging	Het
Crnn	A	G	3: 93,056,330 (GRCm39)	Q372R	probably damaging	Het
Ehf	T	A	2: 103,097,124 (GRCm39)	E276V	probably damaging	Het
Eif4g3	T	A	4: 137,890,744 (GRCm39)		probably null	Het
Enpep	C	T	3: 129,102,748 (GRCm39)	D403N	probably damaging	Het
Enpp1	T	C	10: 24,530,806 (GRCm39)	E550G	probably damaging	Het
Entpd8	A	G	2: 24,974,346 (GRCm39)	D377G	probably benign	Het
Epc2	T	A	2: 49,437,619 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,439,210 (GRCm39)	G481V	probably damaging	Het
Fank1	A	G	7: 133,471,075 (GRCm39)	Y156C	probably damaging	Het
Fras1	A	G	5: 96,929,203 (GRCm39)	D3869G	probably damaging	Het
Gcnt2	A	G	13: 41,071,675 (GRCm39)	D106G	probably benign	Het
Gm20830	A	T	Y: 6,916,501 (GRCm39)	V206E	probably benign	Het
Gmpr2	T	C	14: 55,914,691 (GRCm39)	V228A	possibly damaging	Het
Gon4l	TGAGCA	TGAGCAGAGCA	3: 88,803,523 (GRCm39)		probably null	Het
Gtpbp1	G	A	15: 79,596,375 (GRCm39)		probably null	Het
Hhat	A	T	1: 192,399,327 (GRCm39)	M271K	probably damaging	Het
Hipk2	A	T	6: 38,795,810 (GRCm39)	M153K	possibly damaging	Het
Hydin	A	T	8: 111,261,915 (GRCm39)	H2672L	probably benign	Het
Igfbpl1	A	T	4: 45,826,374 (GRCm39)	D140E	probably damaging	Het
Kctd1	T	G	18: 15,196,573 (GRCm39)		probably benign	Het
Lax1	A	T	1: 133,608,316 (GRCm39)	Y142N	probably damaging	Het
Lpin2	C	T	17: 71,551,798 (GRCm39)	R733C	probably damaging	Het
Morn4	A	G	19: 42,064,556 (GRCm39)	L144P	possibly damaging	Het
Nup214	C	A	2: 31,924,385 (GRCm39)	T1638K	probably damaging	Het
Nyap1	C	T	5: 137,733,246 (GRCm39)	A596T	probably damaging	Het
Or4l15	T	C	14: 50,198,080 (GRCm39)	T150A	probably benign	Het
Or6x1	T	C	9: 40,098,897 (GRCm39)	V162A	probably benign	Het
Or8b42	A	G	9: 38,342,472 (GRCm39)	H298R	probably benign	Het
Pacs1	A	G	19: 5,186,819 (GRCm39)	F851S	probably damaging	Het
Pcdh17	A	G	14: 84,683,800 (GRCm39)	Q89R	probably damaging	Het
Phrf1	A	G	7: 140,838,378 (GRCm39)		probably benign	Het
Plekhb1	A	T	7: 100,304,602 (GRCm39)	I34N	probably damaging	Het
Ralgapa2	T	C	2: 146,175,397 (GRCm39)	E1800G	probably damaging	Het
Rbm33	A	T	5: 28,544,010 (GRCm39)	I89F	probably damaging	Het
Rtl1	T	A	12: 109,560,531 (GRCm39)	E436V	probably damaging	Het
Slc2a4	G	T	11: 69,837,217 (GRCm39)	P73Q	probably damaging	Het
Sorbs2	A	T	8: 46,245,912 (GRCm39)	T311S	probably benign	Het
Sulf2	G	A	2: 165,974,678 (GRCm39)	A2V	probably benign	Het
Supt16	A	T	14: 52,411,601 (GRCm39)		probably null	Het
Vmn1r26	A	T	6: 57,985,738 (GRCm39)	N150K	probably damaging	Het
Vmn2r39	T	A	7: 9,028,150 (GRCm39)	H407L	possibly damaging	Het
Vmn2r84	T	A	10: 130,225,064 (GRCm39)	Y482F	probably benign	Het
Vps9d1	T	C	8: 123,973,655 (GRCm39)	E376G	probably benign	Het
Wrn	C	A	8: 33,814,346 (GRCm39)	G366V	probably benign	Het

Other mutations in Oas1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Oas1d	APN	5	121,057,270 (GRCm39)	missense	possibly damaging	0.90
IGL01062:Oas1d	APN	5	121,057,127 (GRCm39)	nonsense	probably null
IGL01114:Oas1d	APN	5	121,054,907 (GRCm39)	missense	probably benign	0.08
IGL02336:Oas1d	APN	5	121,057,111 (GRCm39)	missense	probably damaging	1.00
IGL02444:Oas1d	APN	5	121,058,071 (GRCm39)	missense	probably benign	0.25
R0080:Oas1d	UTSW	5	121,054,955 (GRCm39)	missense	possibly damaging	0.61
R0388:Oas1d	UTSW	5	121,055,091 (GRCm39)	missense	probably damaging	1.00
R0674:Oas1d	UTSW	5	121,058,049 (GRCm39)	missense	probably benign
R1344:Oas1d	UTSW	5	121,052,959 (GRCm39)	missense	probably damaging	1.00
R1719:Oas1d	UTSW	5	121,058,025 (GRCm39)	missense	possibly damaging	0.79
R1771:Oas1d	UTSW	5	121,053,900 (GRCm39)	missense	probably damaging	0.98
R3810:Oas1d	UTSW	5	121,053,049 (GRCm39)	missense	probably damaging	1.00
R4516:Oas1d	UTSW	5	121,057,233 (GRCm39)	missense	probably damaging	1.00
R4559:Oas1d	UTSW	5	121,054,958 (GRCm39)	missense	probably benign	0.00
R4819:Oas1d	UTSW	5	121,053,780 (GRCm39)	missense	probably damaging	1.00
R4926:Oas1d	UTSW	5	121,053,831 (GRCm39)	missense	probably benign
R5199:Oas1d	UTSW	5	121,057,208 (GRCm39)	missense	probably benign	0.03
R5392:Oas1d	UTSW	5	121,055,003 (GRCm39)	missense	possibly damaging	0.95
R5769:Oas1d	UTSW	5	121,054,917 (GRCm39)	missense	probably benign	0.00
R6259:Oas1d	UTSW	5	121,057,244 (GRCm39)	nonsense	probably null
R7276:Oas1d	UTSW	5	121,054,944 (GRCm39)	missense	possibly damaging	0.48
R7446:Oas1d	UTSW	5	121,058,054 (GRCm39)	missense	probably benign
R7808:Oas1d	UTSW	5	121,053,034 (GRCm39)	nonsense	probably null
R7976:Oas1d	UTSW	5	121,057,210 (GRCm39)	missense	probably damaging	1.00
R8284:Oas1d	UTSW	5	121,057,221 (GRCm39)	nonsense	probably null
R9446:Oas1d	UTSW	5	121,054,947 (GRCm39)	missense	probably benign	0.00
Z1176:Oas1d	UTSW	5	121,052,977 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCTGACTCCTGAGGTAAG -3'
(R):5'- TCATCAGGCAGTGGTGTCTC -3'

Sequencing Primer
(F):5'- TCCTGAGGTAAGGCTGCAGTC -3'
(R):5'- CCATAGCTGGGATGCACATG -3'

Posted On

2016-11-09