Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02444:Oas1d'

293498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oas1d

Ensembl Gene

ENSMUSG00000032623

Gene Name

2'-5' oligoadenylate synthetase 1D

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02444

Quality Score

Status

Chromosome

Chromosomal Location

121052881-121059711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121058071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 338 (F338L)

Ref Sequence

ENSEMBL: ENSMUSP00000048054 (fasta)

Gene Model

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

AlphaFold

Q8VI95

Predicted Effect

probably benign
Transcript: ENSMUST00000044224
AA Change: F338L

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: F338L

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,022,710 (GRCm39)	I260T	possibly damaging	Het
Arhgap9	T	A	10: 127,163,816 (GRCm39)	V484D	probably damaging	Het
Asph	A	G	4: 9,542,319 (GRCm39)		probably benign	Het
Bbs9	T	C	9: 22,555,083 (GRCm39)	S457P	probably damaging	Het
Bckdk	A	G	7: 127,506,618 (GRCm39)	T38A	probably damaging	Het
Cast	G	A	13: 74,887,972 (GRCm39)	T240I	probably damaging	Het
Cdc27	T	C	11: 104,413,542 (GRCm39)		probably benign	Het
Cdon	T	C	9: 35,384,744 (GRCm39)	S677P	probably benign	Het
Cfap161	T	C	7: 83,425,353 (GRCm39)	E246G	probably damaging	Het
Dnah11	G	A	12: 117,939,608 (GRCm39)		probably benign	Het
Dnm3	C	T	1: 161,838,444 (GRCm39)	V835I	possibly damaging	Het
Eif3a	T	C	19: 60,762,045 (GRCm39)	H510R	possibly damaging	Het
Fbxw2	G	T	2: 34,695,793 (GRCm39)	T367K	probably benign	Het
Ghsr	T	C	3: 27,426,189 (GRCm39)	S82P	probably benign	Het
Gm4353	C	T	7: 115,682,679 (GRCm39)	V301I	probably benign	Het
Golgb1	T	C	16: 36,728,178 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,609,860 (GRCm39)	M650L	possibly damaging	Het
Herc4	T	C	10: 63,142,212 (GRCm39)	V671A	probably benign	Het
Iqcb1	T	A	16: 36,652,273 (GRCm39)	Y61*	probably null	Het
Irs2	C	T	8: 11,056,306 (GRCm39)	G709S	probably benign	Het
Itpripl1	T	G	2: 126,983,621 (GRCm39)	H167P	possibly damaging	Het
Kcnn3	T	C	3: 89,559,359 (GRCm39)	V543A	possibly damaging	Het
Klf10	T	A	15: 38,298,068 (GRCm39)	K43M	probably damaging	Het
Lcor	C	T	19: 41,547,450 (GRCm39)	R345C	probably damaging	Het
Lmntd2	A	G	7: 140,791,832 (GRCm39)	S304P	probably damaging	Het
Lpar3	T	C	3: 145,946,949 (GRCm39)	I209T	probably damaging	Het
Map3k13	T	A	16: 21,732,982 (GRCm39)	M528K	probably benign	Het
Me1	A	T	9: 86,464,967 (GRCm39)		probably benign	Het
Nedd4l	T	G	18: 65,337,028 (GRCm39)		probably benign	Het
Or1b1	G	T	2: 36,994,786 (GRCm39)	P292Q	probably damaging	Het
Or2c1	T	C	16: 3,657,551 (GRCm39)	F238S	probably damaging	Het
Pcdhb5	T	C	18: 37,454,103 (GRCm39)	V161A	probably benign	Het
Prdx3	A	T	19: 60,859,899 (GRCm39)	F91L	possibly damaging	Het
Rab25	T	C	3: 88,450,020 (GRCm39)	T114A	probably benign	Het
Rasal2	T	C	1: 157,126,765 (GRCm39)	E73G	probably benign	Het
Slco4c1	A	G	1: 96,772,234 (GRCm39)	S252P	probably damaging	Het
Srgap2	A	C	1: 131,252,891 (GRCm39)		probably null	Het
Synpo	A	G	18: 60,735,502 (GRCm39)	S576P	probably damaging	Het
Tktl2	G	T	8: 66,966,013 (GRCm39)	A524S	possibly damaging	Het
Tln2	A	T	9: 67,165,874 (GRCm39)		probably benign	Het
Tmem52	G	A	4: 155,554,850 (GRCm39)	D158N	probably damaging	Het
Tyw3	T	A	3: 154,302,626 (GRCm39)	Q36L	probably damaging	Het
Usp10	A	T	8: 120,675,432 (GRCm39)	I483F	possibly damaging	Het
Usp31	A	G	7: 121,278,718 (GRCm39)	Y216H	probably damaging	Het
Vmn1r181	T	C	7: 23,683,948 (GRCm39)	S138P	probably damaging	Het
Vmn2r42	G	T	7: 8,187,312 (GRCm39)	A770E	probably damaging	Het
Zfp292	A	C	4: 34,808,810 (GRCm39)	S1411R	possibly 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
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
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

Posted On

2015-04-16