Mutagenetix > Incidental Mutation

Incidental Mutation 'R5909:Oas1e'

460837

Institutional Source

Beutler Lab

Gene Symbol

Oas1e

Ensembl Gene

ENSMUSG00000066867

Gene Name

2'-5' oligoadenylate synthetase 1E

Synonyms

2'-5' oligoadenylate synthetase-like 7

MMRRC Submission

044106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120924377-120933595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120926972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 245 (V245D)

Ref Sequence

ENSEMBL: ENSMUSP00000144529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100785] [ENSMUST00000200786] [ENSMUST00000201172]

AlphaFold

A0A0J9YV76

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100785
AA Change: V245D

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098348
Gene: ENSMUSG00000066867
AA Change: V245D

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	168	353	4.3e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200786

SMART Domains

Protein: ENSMUSP00000144442
Gene: ENSMUSG00000066867

Domain	Start	End	E-Value	Type
PDB:1PX5\|B	4	60	4e-14	PDB
low complexity region	82	100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201006

Predicted Effect

probably damaging
Transcript: ENSMUST00000201172
AA Change: V245D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144529
Gene: ENSMUSG00000066867
AA Change: V245D

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	168	353	2.7e-71	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	C	9: 30,873,224 (GRCm39)	S810P	probably benign	Het
Adcy7	A	T	8: 89,052,124 (GRCm39)	I931F	probably damaging	Het
Alcam	G	T	16: 52,111,356 (GRCm39)	Q248K	probably benign	Het
Astn1	A	C	1: 158,429,507 (GRCm39)	R750S	probably damaging	Het
Atp1a2	A	T	1: 172,114,797 (GRCm39)	N329K	probably damaging	Het
Bcl6	A	G	16: 23,791,556 (GRCm39)	V266A	probably benign	Het
Bdp1	A	G	13: 100,228,794 (GRCm39)	V278A	probably benign	Het
Ccdc162	T	C	10: 41,437,111 (GRCm39)	E493G	probably damaging	Het
Cpvl	T	C	6: 53,909,413 (GRCm39)	Y241C	probably damaging	Het
Ddx55	T	C	5: 124,704,913 (GRCm39)	M390T	probably benign	Het
Ero1b	A	G	13: 12,594,139 (GRCm39)	E102G	probably benign	Het
Etnk1	A	G	6: 143,143,164 (GRCm39)	D273G	probably benign	Het
Exoc3	A	G	13: 74,347,643 (GRCm39)	V109A	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,091 (GRCm39)	I58N	probably damaging	Het
Fancd2	T	A	6: 113,538,672 (GRCm39)	V589E	probably benign	Het
Fbll1	G	A	11: 35,689,159 (GRCm39)	R35C	unknown	Het
Fnbp1	A	G	2: 30,938,211 (GRCm39)		probably null	Het
Glce	G	T	9: 61,967,426 (GRCm39)	A575D	probably damaging	Het
Ift20	T	A	11: 78,430,867 (GRCm39)	M70K	possibly damaging	Het
Impg2	T	C	16: 56,078,499 (GRCm39)	V487A	probably damaging	Het
Isx	A	G	8: 75,619,426 (GRCm39)	D206G	probably benign	Het
Jak3	A	G	8: 72,136,875 (GRCm39)	I684V	possibly damaging	Het
Kdm5d	G	A	Y: 941,306 (GRCm39)	S1169N	probably benign	Het
Krt35	A	T	11: 99,986,639 (GRCm39)	L125Q	probably damaging	Het
Lama4	G	A	10: 38,948,855 (GRCm39)	A873T	probably benign	Het
Lrch4	T	C	5: 137,632,127 (GRCm39)	S74P	possibly damaging	Het
Maneal	A	T	4: 124,750,966 (GRCm39)	Y263*	probably null	Het
Mcat	C	T	15: 83,432,116 (GRCm39)	A251T	probably benign	Het
Mup3	T	G	4: 62,004,244 (GRCm39)	T90P	probably benign	Het
Mybpc2	G	A	7: 44,156,515 (GRCm39)	A812V	probably damaging	Het
Naa15	T	C	3: 51,367,485 (GRCm39)	F503L	probably damaging	Het
Nudt8	T	C	19: 4,050,727 (GRCm39)	L25S	possibly damaging	Het
Ofcc1	A	G	13: 40,417,054 (GRCm39)	M109T	possibly damaging	Het
Or4c58	A	G	2: 89,674,735 (GRCm39)	V194A	possibly damaging	Het
Or4p18	A	T	2: 88,232,535 (GRCm39)	F248I	probably damaging	Het
Phkb	G	T	8: 86,748,076 (GRCm39)		probably null	Het
Pidd1	A	C	7: 141,021,183 (GRCm39)	L365R	probably damaging	Het
Pira12	G	A	7: 3,900,621 (GRCm39)	T43I	probably damaging	Het
Pkd1l2	G	A	8: 117,750,795 (GRCm39)	R1739C	probably benign	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkhd1l1	G	T	15: 44,390,159 (GRCm39)	W1425L	probably damaging	Het
Plxna4	A	G	6: 32,494,181 (GRCm39)	L145P	probably damaging	Het
Plxnd1	G	T	6: 115,945,649 (GRCm39)	D941E	probably benign	Het
Prdm13	G	T	4: 21,683,894 (GRCm39)	Q126K	unknown	Het
Rbm25	T	A	12: 83,728,362 (GRCm39)	V837E	probably damaging	Het
Rcc2	T	A	4: 140,444,379 (GRCm39)	Y357N	probably damaging	Het
Siglec1	A	T	2: 130,919,884 (GRCm39)	N882K	probably damaging	Het
Sox13	A	G	1: 133,311,627 (GRCm39)	I535T	probably benign	Het
Srrm2	T	C	17: 24,040,291 (GRCm39)	S2408P	probably benign	Het
Stat3	G	A	11: 100,794,556 (GRCm39)	T251I	probably benign	Het
Sulf1	A	T	1: 12,929,039 (GRCm39)	D102V	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem145	G	T	7: 25,007,618 (GRCm39)	L208F	possibly damaging	Het
Trim17	A	T	11: 58,859,506 (GRCm39)	E240V	probably damaging	Het
Trim43b	A	T	9: 88,967,451 (GRCm39)	I395K	possibly damaging	Het
Trmt61a	C	A	12: 111,647,292 (GRCm39)	H130N	probably damaging	Het
Unc5b	A	C	10: 60,608,138 (GRCm39)	L654R	probably damaging	Het
Vmn1r66	A	T	7: 10,008,269 (GRCm39)	S255T	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb10	T	C	3: 9,345,109 (GRCm39)	F677S	probably benign	Het
Zfp493	T	A	13: 67,934,717 (GRCm39)	C223*	probably null	Het

Other mutations in Oas1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Oas1e	APN	5	120,932,337 (GRCm39)	missense	probably damaging	1.00
IGL02072:Oas1e	APN	5	120,929,846 (GRCm39)	critical splice donor site	probably null
IGL02652:Oas1e	APN	5	120,933,470 (GRCm39)	missense	probably damaging	0.99
R0049:Oas1e	UTSW	5	120,933,395 (GRCm39)	missense	probably benign	0.01
R0242:Oas1e	UTSW	5	120,929,839 (GRCm39)	splice site	probably benign
R0325:Oas1e	UTSW	5	120,933,460 (GRCm39)	missense	probably damaging	1.00
R1528:Oas1e	UTSW	5	120,926,054 (GRCm39)	missense	probably damaging	1.00
R3438:Oas1e	UTSW	5	120,933,475 (GRCm39)	missense	probably damaging	1.00
R3790:Oas1e	UTSW	5	120,933,475 (GRCm39)	missense	probably damaging	1.00
R3963:Oas1e	UTSW	5	120,932,205 (GRCm39)	missense	probably damaging	1.00
R4811:Oas1e	UTSW	5	120,933,448 (GRCm39)	missense	probably damaging	0.98
R5095:Oas1e	UTSW	5	120,932,329 (GRCm39)	nonsense	probably null
R5327:Oas1e	UTSW	5	120,930,006 (GRCm39)	missense	probably damaging	1.00
R5860:Oas1e	UTSW	5	120,930,015 (GRCm39)	missense	probably benign	0.13
R6503:Oas1e	UTSW	5	120,926,042 (GRCm39)	missense	probably benign	0.39
R7167:Oas1e	UTSW	5	120,933,487 (GRCm39)	missense	probably benign	0.35
R7515:Oas1e	UTSW	5	120,929,951 (GRCm39)	missense	probably damaging	1.00
R7563:Oas1e	UTSW	5	120,927,021 (GRCm39)	missense	probably benign	0.00
R8114:Oas1e	UTSW	5	120,924,708 (GRCm39)	missense	unknown
R8133:Oas1e	UTSW	5	120,926,060 (GRCm39)	missense	probably benign	0.00
R8351:Oas1e	UTSW	5	120,925,008 (GRCm39)	splice site	probably null
R8710:Oas1e	UTSW	5	120,930,027 (GRCm39)	nonsense	probably null
R9667:Oas1e	UTSW	5	120,932,347 (GRCm39)	missense	probably benign	0.28
RF020:Oas1e	UTSW	5	120,932,383 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- ATTGCAGCATGACACCCACTG -3'
(R):5'- CAGGCTGAATCTGAGTGACAC -3'

Sequencing Primer
(F):5'- CATGTGGGGACAAGCTACCTG -3'
(R):5'- CACTATGTCTGTAAGGATATCTTGTG -3'

Posted On

2017-02-28