Mutagenetix > Incidental Mutation

Incidental Mutation 'R4819:Oas1d'

370046

Institutional Source

Beutler Lab

Gene Symbol

Oas1d

Ensembl Gene

ENSMUSG00000032623

Gene Name

2'-5' oligoadenylate synthetase 1D

Synonyms

MMRRC Submission

042000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121052881-121059711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121053780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

Ref Sequence

ENSEMBL: ENSMUSP00000048054 (fasta)

Gene Model

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

AlphaFold

Q8VI95

Predicted Effect

probably damaging
Transcript: ENSMUST00000044224
AA Change: V80A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: V80A

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,240,421 (GRCm39)	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,403,442 (GRCm39)	L444F	possibly damaging	Het
Akap8	G	A	17: 32,531,279 (GRCm39)	R378W	probably damaging	Het
Amotl2	C	T	9: 102,607,270 (GRCm39)	R693W	probably damaging	Het
As3mt	G	T	19: 46,695,968 (GRCm39)		probably benign	Het
Atp6v1e2	A	G	17: 87,251,966 (GRCm39)	V144A	probably benign	Het
Bfar	C	T	16: 13,505,331 (GRCm39)	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225 (GRCm39)	A261V	probably damaging	Het
Cd177	A	T	7: 24,451,696 (GRCm39)	I440K	probably damaging	Het
Cfap54	G	T	10: 92,672,339 (GRCm39)	Y2910*	probably null	Het
Csl	A	G	10: 99,593,944 (GRCm39)	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,167,501 (GRCm39)	R275H	probably damaging	Het
Derl3	A	G	10: 75,729,713 (GRCm39)		probably null	Het
Dst	A	G	1: 34,007,916 (GRCm39)	I117V	probably benign	Het
Edc3	T	A	9: 57,655,680 (GRCm39)	C477S	possibly damaging	Het
Efs	T	C	14: 55,154,610 (GRCm39)	E450G	probably damaging	Het
Fcrla	T	A	1: 170,748,508 (GRCm39)	I212F	probably damaging	Het
Fsip2	A	G	2: 82,818,786 (GRCm39)	I4840V	probably benign	Het
Gpam	T	A	19: 55,066,773 (GRCm39)	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358 (GRCm39)	D45G	probably damaging	Het
Heca	A	G	10: 17,783,820 (GRCm39)	Y478H	probably damaging	Het
Hspa9	C	T	18: 35,072,441 (GRCm39)	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,965 (GRCm39)	Y299*	probably null	Het
Iho1	A	G	9: 108,283,877 (GRCm39)	V189A	probably benign	Het
Ik	T	A	18: 36,886,310 (GRCm39)		probably null	Het
Khsrp	A	G	17: 57,330,360 (GRCm39)	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,122,471 (GRCm39)	D182G	probably damaging	Het
Krt1c	T	C	15: 101,719,979 (GRCm39)	T564A	unknown	Het
Lig4	A	G	8: 10,021,885 (GRCm39)	S632P	probably benign	Het
Med1	C	T	11: 98,046,258 (GRCm39)		probably benign	Het
Mgat3	T	A	15: 80,096,550 (GRCm39)	I459N	probably damaging	Het
Mkln1	A	T	6: 31,451,421 (GRCm39)	Q454L	probably benign	Het
Mn1	A	G	5: 111,567,803 (GRCm39)	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,199,484 (GRCm39)	L1364Q	probably damaging	Het
Obscn	A	T	11: 58,929,674 (GRCm39)	D5180E	probably damaging	Het
Pax6	G	A	2: 105,522,622 (GRCm39)		probably null	Het
Pcdh15	A	C	10: 74,160,221 (GRCm39)	N446T	probably damaging	Het
Pcnx2	A	T	8: 126,581,969 (GRCm39)	F922L	probably benign	Het
Ptpn4	G	T	1: 119,587,580 (GRCm39)	T921K	probably benign	Het
Selenov	A	G	7: 27,989,746 (GRCm39)		probably null	Het
Tmem100	A	G	11: 89,926,271 (GRCm39)	T33A	probably benign	Het
Tmem59	C	T	4: 107,044,878 (GRCm39)	Q66*	probably null	Het
Trav21-dv12	T	A	14: 54,114,070 (GRCm39)	Y63*	probably null	Het
Trim66	G	T	7: 109,056,793 (GRCm39)	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,338,769 (GRCm39)	Y533C	probably damaging	Het
Ttc17	G	A	2: 94,194,955 (GRCm39)	P520L	probably damaging	Het
Ttn	A	T	2: 76,622,093 (GRCm39)	V15483E	probably damaging	Het
Vinac1	G	T	2: 128,882,721 (GRCm39)	N98K	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,468,974 (GRCm39)	T3069K	probably benign	Het
Zfp281	A	G	1: 136,553,448 (GRCm39)	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044 (GRCm39)	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,602,231 (GRCm39)	H323L	probably damaging	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
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
R5695:Oas1d	UTSW	5	121,053,074 (GRCm39)	missense	probably benign
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'- AGGGAGGATCACTACAGATCACTTG -3'
(R):5'- TGAAGCTCAGAAACCTGGAG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TCAGAAACCTGGAGTTGGGCTC -3'

Posted On

2016-02-04