Mutagenetix > Incidental Mutations

Incidental Mutation 'R5354:Oasl1'

423963

Institutional Source

Beutler Lab

Gene Symbol

Oasl1

Ensembl Gene

ENSMUSG00000041827

Gene Name

2'-5' oligoadenylate synthetase-like 1

Synonyms

MMRRC Submission

042933-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114923240-114937915 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114936996 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 372 (I372L)

Ref Sequence

ENSEMBL: ENSMUSP00000107771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031540] [ENSMUST00000112143]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031540
AA Change: I372L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031540
Gene: ENSMUSG00000041827
AA Change: I372L

Domain	Start	End	E-Value	Type
low complexity region	31	42	N/A	INTRINSIC
Pfam:OAS1_C	162	348	8e-76	PFAM
UBQ	350	425	1.58e0	SMART
UBQ	430	501	2.22e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112143
AA Change: I372L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107771
Gene: ENSMUSG00000041827
AA Change: I372L

Domain	Start	End	E-Value	Type
low complexity region	31	42	N/A	INTRINSIC
Pfam:OAS1_C	163	346	1.9e-79	PFAM
UBQ	350	425	1.58e0	SMART
UBQ	430	501	2.22e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155394

Meta Mutation Damage Score

0.1181

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

MGI Phenotype

PHENOTYPE: Mice with a deletion of this gene have increased expression of type I interferon and show increased resistance to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,618,671	K196R	probably benign	Het
Ablim1	T	C	19: 57,130,923	E243G	probably benign	Het
Acat1	T	A	9: 53,589,183	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290		probably null	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Agbl3	T	A	6: 34,814,752	H596Q	probably benign	Het
Anxa7	A	G	14: 20,464,909	L177P	possibly damaging	Het
Atp11a	A	T	8: 12,806,753	N48I	probably damaging	Het
Bcas1	T	A	2: 170,349,396	N492I	possibly damaging	Het
Bclaf1	A	G	10: 20,333,532	Y498C	probably damaging	Het
Bod1l	A	C	5: 41,831,537	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,534,188	C338Y	probably benign	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Ckap2	A	C	8: 22,177,565	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,737,005	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,846,165	I347N	possibly damaging	Het
Cpox	A	G	16: 58,670,842	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,433,464		probably null	Het
Dctn1	T	G	6: 83,183,126	V116G	possibly damaging	Het
Dhx38	A	G	8: 109,555,746	V683A	probably damaging	Het
Dnah12	G	A	14: 26,774,342		probably null	Het
Dnajb7	T	C	15: 81,408,007	E43G	probably damaging	Het
Dsc1	A	T	18: 20,087,575	V714E	probably damaging	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
Egfem1	T	C	3: 29,082,212		probably null	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fmo1	T	C	1: 162,830,145	T476A	probably benign	Het
Gm10237	T	C	16: 35,920,729		noncoding transcript	Het
Gm14496	A	G	2: 182,000,809	S758G	probably damaging	Het
Gpat2	T	A	2: 127,428,723	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,859,637	D357G	probably benign	Het
Hax1	A	T	3: 89,997,955	D34E	probably damaging	Het
Hmgcr	C	T	13: 96,654,896	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,712,315	T105A	probably benign	Het
Ints1	A	G	5: 139,766,428		probably null	Het
Islr	T	C	9: 58,157,612	E204G	probably damaging	Het
Lrrc36	A	G	8: 105,425,364	N60D	probably damaging	Het
Maf1	T	C	15: 76,353,130		probably benign	Het
Mrgprb4	T	A	7: 48,198,329	R284W	probably benign	Het
Myh4	A	T	11: 67,255,725	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,686,277	H17R	unknown	Het
Olfr290	T	A	7: 84,916,149	Y123*	probably null	Het
Olfr414	T	C	1: 174,430,686	L86P	probably damaging	Het
Pald1	A	T	10: 61,348,661	Y226N	probably damaging	Het
Pcdhb13	G	T	18: 37,444,791	G741C	probably damaging	Het
Pcdhga10	A	G	18: 37,748,206	D340G	probably damaging	Het
Pclo	C	A	5: 14,678,808		probably benign	Het
Pcsk4	G	T	10: 80,323,689	N416K	probably damaging	Het
Pde10a	C	A	17: 8,961,980	R398S	probably damaging	Het
Plin1	T	A	7: 79,725,721	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,154,166	D542G	probably damaging	Het
Ppp4r3b	T	A	11: 29,211,646	D673E	probably benign	Het
Prr18	C	A	17: 8,341,060	P16Q	probably damaging	Het
Psmc3	T	A	2: 91,059,353	Y440N	probably damaging	Het
Rassf5	T	C	1: 131,180,648	I232V	probably benign	Het
Rims1	T	A	1: 22,538,511	D218V	probably damaging	Het
Skint10	T	C	4: 112,711,593	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,302,623	M121T	possibly damaging	Het
Slit3	A	G	11: 35,675,913	D1004G	probably damaging	Het
Snap91	C	T	9: 86,835,124	V215I	possibly damaging	Het
Son	T	C	16: 91,655,739	L458S	probably damaging	Het
St18	C	T	1: 6,844,171	A782V	probably damaging	Het
Synpo	A	G	18: 60,602,231		probably null	Het
Thbs3	A	G	3: 89,221,377	D458G	probably damaging	Het
Tpr	C	T	1: 150,445,924	R3C	probably damaging	Het
Trp63	A	G	16: 25,684,355		probably null	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Vmn1r27	C	A	6: 58,215,596	R141L	probably benign	Het
Wnk1	T	C	6: 119,968,523	I699V	probably benign	Het
Xkr6	A	G	14: 63,818,904	D88G	possibly damaging	Het
Zan	A	G	5: 137,380,788		probably benign	Het
Zbtb7b	T	C	3: 89,379,606		probably benign	Het
Zfp618	A	T	4: 63,080,028	D33V	probably damaging	Het

Other mutations in Oasl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Oasl1	APN	5	114937407	missense	probably benign	0.01
IGL02061:Oasl1	APN	5	114923592	missense	probably damaging	0.97
IGL02888:Oasl1	APN	5	114937182	missense	probably damaging	1.00
IGL03230:Oasl1	APN	5	114937056	missense	probably damaging	1.00
ammonite	UTSW	5	114936937	missense	probably damaging	1.00
dreadnaught	UTSW	5	114936070	critical splice donor site	probably null
nautilus	UTSW	5	114937183	missense	probably damaging	1.00
spirogyra	UTSW	5	114937406	missense	probably benign	0.00
IGL03048:Oasl1	UTSW	5	114937341	missense	possibly damaging	0.56
R1510:Oasl1	UTSW	5	114928108	missense	probably benign	0.00
R1680:Oasl1	UTSW	5	114935944	missense	probably damaging	1.00
R1918:Oasl1	UTSW	5	114923469	missense	possibly damaging	0.84
R2090:Oasl1	UTSW	5	114935934	missense	probably damaging	1.00
R3977:Oasl1	UTSW	5	114932898	missense	probably damaging	1.00
R3978:Oasl1	UTSW	5	114932898	missense	probably damaging	1.00
R3980:Oasl1	UTSW	5	114932898	missense	probably damaging	1.00
R4158:Oasl1	UTSW	5	114937014	missense	possibly damaging	0.77
R4159:Oasl1	UTSW	5	114937014	missense	possibly damaging	0.77
R4160:Oasl1	UTSW	5	114937014	missense	possibly damaging	0.77
R4161:Oasl1	UTSW	5	114937014	missense	possibly damaging	0.77
R4797:Oasl1	UTSW	5	114928158	missense	probably benign	0.00
R5443:Oasl1	UTSW	5	114936070	critical splice donor site	probably null
R5820:Oasl1	UTSW	5	114936978	missense	possibly damaging	0.94
R5919:Oasl1	UTSW	5	114928270	missense	probably damaging	1.00
R6746:Oasl1	UTSW	5	114937183	missense	probably damaging	1.00
R7471:Oasl1	UTSW	5	114935926	missense	probably damaging	1.00
R7720:Oasl1	UTSW	5	114929921	missense	probably damaging	1.00
R7766:Oasl1	UTSW	5	114937110	missense	probably damaging	1.00
R8115:Oasl1	UTSW	5	114936937	missense	probably damaging	1.00
R8243:Oasl1	UTSW	5	114928161	missense	probably benign	0.04
R8358:Oasl1	UTSW	5	114937406	missense	probably benign	0.00
Z1177:Oasl1	UTSW	5	114932745	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GTGCTAGGCGTTCCCTAAAC -3'
(R):5'- TCACAAAGACCTGGATCTCAG -3'

Sequencing Primer
(F):5'- CCTAAACATTTGCTGCGGAG -3'
(R):5'- CTCAGGGGAGATGGTGTCCAG -3'

Posted On

2016-08-04