Mutagenetix > Incidental Mutation

Incidental Mutation 'R7471:Oasl1'

579188

Institutional Source

Beutler Lab

Gene Symbol

Oasl1

Ensembl Gene

ENSMUSG00000041827

Gene Name

2'-5' oligoadenylate synthetase-like 1

Synonyms

7530414C13Rik

MMRRC Submission

045545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115061299-115075974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115073985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 298 (I298N)

Ref Sequence

ENSEMBL: ENSMUSP00000031540 (fasta)

Gene Model

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

AlphaFold

Q8VI94

Predicted Effect

probably damaging
Transcript: ENSMUST00000031540
AA Change: I298N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031540
Gene: ENSMUSG00000041827
AA Change: I298N

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: I298N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107771
Gene: ENSMUSG00000041827
AA Change: I298N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,168,608 (GRCm39)		probably null	Het
Ace	T	C	11: 105,864,308 (GRCm39)	V483A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Angptl2	A	T	2: 33,133,751 (GRCm39)	T358S	possibly damaging	Het
Apoh	C	T	11: 108,298,131 (GRCm39)	P144S	probably damaging	Het
Arid1a	A	G	4: 133,408,355 (GRCm39)	W1666R	unknown	Het
Asap3	A	G	4: 135,960,957 (GRCm39)	H223R	possibly damaging	Het
Bcl2l12	A	G	7: 44,645,977 (GRCm39)	S81P	possibly damaging	Het
Brd10	A	C	19: 29,707,139 (GRCm39)		probably null	Het
C8a	A	G	4: 104,674,822 (GRCm39)	S550P	probably benign	Het
Cacna2d1	C	G	5: 16,139,973 (GRCm39)		probably benign	Het
Ccdc170	A	G	10: 4,470,803 (GRCm39)	T216A	probably benign	Het
Chd7	A	T	4: 8,859,197 (GRCm39)	K2429I	probably damaging	Het
Chd8	T	C	14: 52,441,569 (GRCm39)	N2181S	probably benign	Het
Cimap1c	C	T	9: 56,759,783 (GRCm39)		probably null	Het
Clip3	T	C	7: 30,001,377 (GRCm39)	V342A	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Cyp20a1	T	C	1: 60,393,799 (GRCm39)	F139S	probably damaging	Het
Dclre1b	T	A	3: 103,710,430 (GRCm39)	R494W	probably benign	Het
Dicer1	A	G	12: 104,660,969 (GRCm39)	I1695T	probably damaging	Het
Dnah7a	A	G	1: 53,458,858 (GRCm39)	L3760P	probably damaging	Het
Dock1	A	G	7: 134,765,072 (GRCm39)	D1688G	possibly damaging	Het
Drosha	G	A	15: 12,889,742 (GRCm39)	R870Q	probably damaging	Het
Dsg2	G	T	18: 20,713,675 (GRCm39)	M215I	probably benign	Het
Dst	A	T	1: 34,233,651 (GRCm39)	D3453V	possibly damaging	Het
Epha10	A	T	4: 124,796,365 (GRCm39)	Y358F		Het
Ermp1	A	T	19: 29,590,054 (GRCm39)	M853K	probably benign	Het
Hace1	T	G	10: 45,577,075 (GRCm39)	I823S	probably benign	Het
Hectd3	A	T	4: 116,853,785 (GRCm39)	Y227F	probably benign	Het
Hells	A	G	19: 38,945,501 (GRCm39)	N580S	probably benign	Het
Igkv12-44	A	G	6: 69,791,718 (GRCm39)	F82L	probably damaging	Het
Inpp5d	A	G	1: 87,623,122 (GRCm39)	D405G	probably damaging	Het
Itsn2	G	A	12: 4,758,198 (GRCm39)	R1508H	probably benign	Het
Limk1	A	T	5: 134,686,825 (GRCm39)		probably null	Het
Lingo1	T	A	9: 56,528,167 (GRCm39)	K147*	probably null	Het
Ltn1	T	C	16: 87,194,787 (GRCm39)	S1371G	probably benign	Het
Mab21l1	A	G	3: 55,691,307 (GRCm39)	D298G	possibly damaging	Het
Macf1	A	T	4: 123,366,082 (GRCm39)	V2893E	probably benign	Het
Mapk8ip1	T	C	2: 92,219,489 (GRCm39)	D114G	probably benign	Het
Med15	A	T	16: 17,540,729 (GRCm39)	W6R	probably benign	Het
Mrps34	T	C	17: 25,114,431 (GRCm39)	L97P	probably damaging	Het
Myrfl	A	T	10: 116,697,417 (GRCm39)	F36I	possibly damaging	Het
Nifk	G	A	1: 118,260,204 (GRCm39)	S253N	probably damaging	Het
Nmnat1	T	A	4: 149,557,758 (GRCm39)	T95S	probably damaging	Het
Or51a8	A	G	7: 102,549,760 (GRCm39)	Y62C	probably benign	Het
Or56b35	T	G	7: 104,963,712 (GRCm39)	L167R	probably damaging	Het
Or8g37	A	T	9: 39,731,423 (GRCm39)	M163L	probably benign	Het
Polr2b	C	T	5: 77,468,913 (GRCm39)	R230*	probably null	Het
Prkra	T	A	2: 76,477,545 (GRCm39)	E53D	probably benign	Het
Rasgrp4	T	A	7: 28,845,405 (GRCm39)	L376Q	probably damaging	Het
Rwdd3	A	G	3: 120,964,961 (GRCm39)	S65P	probably benign	Het
Satb1	G	A	17: 52,090,029 (GRCm39)	P273S	probably damaging	Het
Scg3	T	C	9: 75,589,374 (GRCm39)	E93G	probably damaging	Het
Sf3a1	T	C	11: 4,117,724 (GRCm39)	F162S	possibly damaging	Het
Sorcs1	A	G	19: 50,250,701 (GRCm39)	Y377H	probably damaging	Het
Sptbn4	G	A	7: 27,108,439 (GRCm39)	A661V	possibly damaging	Het
Stk36	A	G	1: 74,673,479 (GRCm39)	N996S	unknown	Het
Tbca	A	T	13: 94,968,923 (GRCm39)	I37F	probably damaging	Het
Tc2n	A	T	12: 101,672,716 (GRCm39)	V75E	probably damaging	Het
Tdrkh	A	T	3: 94,333,263 (GRCm39)	S243C	probably damaging	Het
Tjp1	T	C	7: 64,964,438 (GRCm39)	D911G	probably damaging	Het
Tmbim6	A	G	15: 99,299,324 (GRCm39)		probably benign	Het
Tob1	T	A	11: 94,104,708 (GRCm39)	D81E	probably benign	Het
Ttpal	T	A	2: 163,448,945 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,534,787 (GRCm39)		probably null	Het
Vmn1r235	A	G	17: 21,482,658 (GRCm39)	I328V	probably benign	Het
Vmn1r28	T	A	6: 58,242,850 (GRCm39)	L231*	probably null	Het
Xirp1	G	A	9: 119,848,176 (GRCm39)	Q236*	probably null	Het
Zc3h7b	A	G	15: 81,664,682 (GRCm39)	T514A	probably damaging	Het
Zfp524	A	G	7: 5,021,200 (GRCm39)	I243V	probably benign	Het
Zfp655	T	A	5: 145,181,542 (GRCm39)	Y467N	possibly damaging	Het
Zfp985	A	T	4: 147,667,388 (GRCm39)	K85N	possibly damaging	Het

Other mutations in Oasl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Oasl1	APN	5	115,075,466 (GRCm39)	missense	probably benign	0.01
IGL02061:Oasl1	APN	5	115,061,651 (GRCm39)	missense	probably damaging	0.97
IGL02888:Oasl1	APN	5	115,075,241 (GRCm39)	missense	probably damaging	1.00
IGL03230:Oasl1	APN	5	115,075,115 (GRCm39)	missense	probably damaging	1.00
ammonite	UTSW	5	115,074,996 (GRCm39)	missense	probably damaging	1.00
dreadnaught	UTSW	5	115,074,129 (GRCm39)	critical splice donor site	probably null
nautilus	UTSW	5	115,075,242 (GRCm39)	missense	probably damaging	1.00
spirogyra	UTSW	5	115,075,465 (GRCm39)	missense	probably benign	0.00
IGL03048:Oasl1	UTSW	5	115,075,400 (GRCm39)	missense	possibly damaging	0.56
R1510:Oasl1	UTSW	5	115,066,167 (GRCm39)	missense	probably benign	0.00
R1680:Oasl1	UTSW	5	115,074,003 (GRCm39)	missense	probably damaging	1.00
R1918:Oasl1	UTSW	5	115,061,528 (GRCm39)	missense	possibly damaging	0.84
R2090:Oasl1	UTSW	5	115,073,993 (GRCm39)	missense	probably damaging	1.00
R3977:Oasl1	UTSW	5	115,070,957 (GRCm39)	missense	probably damaging	1.00
R3978:Oasl1	UTSW	5	115,070,957 (GRCm39)	missense	probably damaging	1.00
R3980:Oasl1	UTSW	5	115,070,957 (GRCm39)	missense	probably damaging	1.00
R4158:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4159:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4160:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4161:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4797:Oasl1	UTSW	5	115,066,217 (GRCm39)	missense	probably benign	0.00
R5354:Oasl1	UTSW	5	115,075,055 (GRCm39)	missense	probably damaging	1.00
R5443:Oasl1	UTSW	5	115,074,129 (GRCm39)	critical splice donor site	probably null
R5820:Oasl1	UTSW	5	115,075,037 (GRCm39)	missense	possibly damaging	0.94
R5919:Oasl1	UTSW	5	115,066,329 (GRCm39)	missense	probably damaging	1.00
R6746:Oasl1	UTSW	5	115,075,242 (GRCm39)	missense	probably damaging	1.00
R7720:Oasl1	UTSW	5	115,067,980 (GRCm39)	missense	probably damaging	1.00
R7766:Oasl1	UTSW	5	115,075,169 (GRCm39)	missense	probably damaging	1.00
R8115:Oasl1	UTSW	5	115,074,996 (GRCm39)	missense	probably damaging	1.00
R8243:Oasl1	UTSW	5	115,066,220 (GRCm39)	missense	probably benign	0.04
R8358:Oasl1	UTSW	5	115,075,465 (GRCm39)	missense	probably benign	0.00
R9566:Oasl1	UTSW	5	115,066,331 (GRCm39)	missense	probably benign	0.02
R9695:Oasl1	UTSW	5	115,074,054 (GRCm39)	missense	probably damaging	1.00
Z1177:Oasl1	UTSW	5	115,070,804 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCTCTGCACTTCCCGGAATG -3'
(R):5'- AAAGCTGTTCCCCACTTTGTTG -3'

Sequencing Primer
(F):5'- CCGGAATGTTCTCCTCAAGG -3'
(R):5'- AGGCAGTGTAGTGTTCAGAC -3'

Posted On

2019-10-07