Mutagenetix > Incidental Mutation

Incidental Mutation 'R4559:Oas1d'

342981

Institutional Source

Beutler Lab

Gene Symbol

Oas1d

Ensembl Gene

ENSMUSG00000032623

Gene Name

2'-5' oligoadenylate synthetase 1D

Synonyms

MMRRC Submission

041785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121052881-121059711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121054958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 177 (Q177K)

Ref Sequence

ENSEMBL: ENSMUSP00000048054 (fasta)

Gene Model

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

AlphaFold

Q8VI95

Predicted Effect

probably benign
Transcript: ENSMUST00000044224
AA Change: Q177K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: Q177K

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (56/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,567,240 (GRCm39)		noncoding transcript	Het
1700066M21Rik	T	C	1: 57,422,083 (GRCm39)	F153S	possibly damaging	Het
Acss1	A	G	2: 150,480,405 (GRCm39)	V222A	probably benign	Het
Atad2b	A	G	12: 4,993,223 (GRCm39)	I247M	probably benign	Het
Atxn10	A	G	15: 85,322,321 (GRCm39)	I398V	possibly damaging	Het
Cep192	T	A	18: 68,004,584 (GRCm39)	C2312S	probably damaging	Het
Cidea	C	T	18: 67,493,298 (GRCm39)	Q106*	probably null	Het
Cnga4	A	G	7: 105,054,892 (GRCm39)	T159A	probably damaging	Het
Cyp2j12	G	T	4: 96,001,194 (GRCm39)	S304R	probably damaging	Het
Dennd2b	A	G	7: 109,124,785 (GRCm39)	F665L	probably damaging	Het
Dsg4	T	A	18: 20,603,978 (GRCm39)	V815E	probably damaging	Het
Entrep1	G	A	19: 24,007,913 (GRCm39)	S130L	probably damaging	Het
Farp1	T	C	14: 121,510,213 (GRCm39)	M737T	probably damaging	Het
Fbn1	T	A	2: 125,193,634 (GRCm39)	D1395V	possibly damaging	Het
Fbn2	C	T	18: 58,209,146 (GRCm39)	M1076I	probably benign	Het
Fitm2	T	A	2: 163,314,593 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,929,148 (GRCm39)	R3851G	probably damaging	Het
Frem2	C	T	3: 53,561,742 (GRCm39)	V922I	probably benign	Het
Gm10719	A	T	9: 3,018,945 (GRCm39)	T200S	probably benign	Het
Grin3a	T	C	4: 49,844,555 (GRCm39)	D176G	probably damaging	Het
Hdac5	T	C	11: 102,089,928 (GRCm39)		probably benign	Het
Ift140	C	A	17: 25,309,741 (GRCm39)	H1090Q	probably damaging	Het
Il20ra	A	G	10: 19,625,032 (GRCm39)	T104A	probably damaging	Het
Il22ra2	A	G	10: 19,502,460 (GRCm39)	D93G	possibly damaging	Het
Ing1	A	G	8: 11,612,090 (GRCm39)	K176R	probably benign	Het
Jph1	A	T	1: 17,074,735 (GRCm39)	C428S	probably benign	Het
Kif13b	G	T	14: 65,043,581 (GRCm39)	G1794W	probably damaging	Het
Map10	A	G	8: 126,398,553 (GRCm39)	T649A	probably benign	Het
Med12l	T	C	3: 58,914,523 (GRCm39)		probably null	Het
Nat8f1	A	G	6: 85,887,567 (GRCm39)	I131T	probably benign	Het
Or4a74	C	A	2: 89,440,043 (GRCm39)	M134I	probably damaging	Het
Or51q1	G	A	7: 103,628,767 (GRCm39)	D123N	probably damaging	Het
P2ry2	A	G	7: 100,647,363 (GRCm39)	V314A	possibly damaging	Het
Pabir2	G	A	X: 52,349,554 (GRCm39)		probably benign	Het
Pfkl	G	T	10: 77,824,717 (GRCm39)	R691S	probably benign	Het
Plb1	T	A	5: 32,490,175 (GRCm39)	I1005N	probably damaging	Het
Prkacb	A	G	3: 146,451,147 (GRCm39)		probably benign	Het
Ptprm	A	T	17: 66,990,403 (GRCm39)	Y1412N	possibly damaging	Het
Rab22a	A	G	2: 173,503,226 (GRCm39)	D13G	probably damaging	Het
Rab29	G	A	1: 131,800,305 (GRCm39)	W201*	probably null	Het
Rasa3	T	C	8: 13,648,259 (GRCm39)	E135G	probably damaging	Het
Rassf10	A	G	7: 112,554,338 (GRCm39)	E313G	probably benign	Het
Sf1	GGCAGCAGCAGCAGCAGCAGC	GGCAGCAGCAGCAGCAGC	19: 6,424,845 (GRCm39)		probably benign	Het
Sipa1l3	A	T	7: 29,031,678 (GRCm39)	L468Q	probably damaging	Het
Slc17a1	A	T	13: 24,062,695 (GRCm39)	K254*	probably null	Het
Slc6a12	G	A	6: 121,340,820 (GRCm39)		probably null	Het
Slfn8	A	G	11: 82,895,570 (GRCm39)	L412P	probably damaging	Het
Taf4b	T	C	18: 14,946,583 (GRCm39)	S469P	probably damaging	Het
Tgoln1	T	C	6: 72,592,664 (GRCm39)	E272G	probably damaging	Het
Tlr12	C	A	4: 128,509,563 (GRCm39)	G896W	probably damaging	Het
Tnfrsf1a	A	G	6: 125,337,729 (GRCm39)	I229V	probably benign	Het
Ttn	G	A	2: 76,749,890 (GRCm39)	H3720Y	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
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

Predicted Primers

PCR Primer
(F):5'- TTTCACACCATCCAGAGGTG -3'
(R):5'- AAACATAGGGTCCACAGGATC -3'

Sequencing Primer
(F):5'- ACCATCCAGAGGTGTGGTG -3'
(R):5'- ATAGGGTCCACAGGATCTGGGTC -3'

Posted On

2015-09-24