Mutagenetix > Incidental Mutation

Incidental Mutation 'R8991:Nova1'

684423

Institutional Source

Beutler Lab

Gene Symbol

Nova1

Ensembl Gene

ENSMUSG00000021047

Gene Name

NOVA alternative splicing regulator 1

Synonyms

Nova-1, 9430099M15Rik

MMRRC Submission

068716-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R8991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46744678-46866143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46863800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 50 (Y50C)

Ref Sequence

ENSEMBL: ENSMUSP00000021438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021438]

AlphaFold

Q9JKN6

Predicted Effect

unknown
Transcript: ENSMUST00000021438
AA Change: Y50C

SMART Domains

Protein: ENSMUSP00000021438
Gene: ENSMUSG00000021047
AA Change: Y50C

Domain	Start	End	E-Value	Type
KH	48	121	3.32e-13	SMART
low complexity region	150	169	N/A	INTRINSIC
KH	170	242	8.11e-17	SMART
low complexity region	273	299	N/A	INTRINSIC
low complexity region	325	402	N/A	INTRINSIC
KH	420	493	7.99e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219330

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born small, develop motor dysfunction associated with neuron apoptosis, and die within 10 days of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,232 (GRCm39)	K54I	probably damaging	Het
Ankrd34b	T	A	13: 92,575,725 (GRCm39)	I319K	probably benign	Het
Art2b	G	A	7: 101,229,590 (GRCm39)	A103V	probably damaging	Het
Atmin	T	G	8: 117,679,665 (GRCm39)	F126C	probably damaging	Het
Cc2d1b	A	T	4: 108,482,143 (GRCm39)	N139I	probably benign	Het
Cep128	T	C	12: 91,200,987 (GRCm39)	Y794C	probably damaging	Het
Cic	T	A	7: 24,988,885 (GRCm39)	V1829D	probably damaging	Het
Cnep1r1	G	A	8: 88,856,447 (GRCm39)	R99Q	unknown	Het
Cpq	G	C	15: 33,213,353 (GRCm39)	R124P	probably damaging	Het
Crtc3	A	T	7: 80,327,191 (GRCm39)	V45D	probably damaging	Het
Dchs2	T	G	3: 83,036,143 (GRCm39)	S297A	probably benign	Het
Dnah9	A	T	11: 65,777,506 (GRCm39)	S3681T	probably damaging	Het
Dock8	T	C	19: 25,165,731 (GRCm39)	Y1872H	possibly damaging	Het
Fbn2	T	A	18: 58,239,395 (GRCm39)	Q558L	probably damaging	Het
Fn1	A	G	1: 71,676,491 (GRCm39)	V580A	probably benign	Het
Fscn3	C	T	6: 28,434,472 (GRCm39)	T349I	probably benign	Het
Fsip2	T	C	2: 82,815,370 (GRCm39)	V3701A	probably benign	Het
Hectd4	T	C	5: 121,496,347 (GRCm39)	V3913A	probably benign	Het
Htt	G	A	5: 35,063,062 (GRCm39)	G2898D	probably damaging	Het
Ighv3-4	T	G	12: 114,217,266 (GRCm39)	E108D	probably benign	Het
Irx5	G	T	8: 93,087,135 (GRCm39)	E356*	probably null	Het
Kcnh6	A	G	11: 105,909,971 (GRCm39)	I499V	possibly damaging	Het
Kcnj10	T	A	1: 172,196,963 (GRCm39)	I159N	probably damaging	Het
Kcnmb4	T	A	10: 116,282,238 (GRCm39)	H153L	probably benign	Het
Klhl8	T	C	5: 104,018,404 (GRCm39)	N409S	probably benign	Het
Ksr1	A	G	11: 78,936,014 (GRCm39)	S117P	probably benign	Het
Lrfn3	A	T	7: 30,059,244 (GRCm39)	V327E	probably damaging	Het
Mrc2	C	A	11: 105,229,740 (GRCm39)	H724Q	probably benign	Het
Mtf2	T	A	5: 108,248,805 (GRCm39)	F372L	probably benign	Het
Nipbl	A	T	15: 8,320,997 (GRCm39)	D2703E	probably damaging	Het
Ofcc1	T	A	13: 40,296,277 (GRCm39)	Y519F	probably benign	Het
Or2aj5	T	A	16: 19,424,511 (GRCm39)	K301N	probably damaging	Het
Or4f54	T	C	2: 111,123,348 (GRCm39)	I245T	probably damaging	Het
Or4f61	A	T	2: 111,922,682 (GRCm39)	D121E	probably damaging	Het
Or4p19	A	C	2: 88,242,723 (GRCm39)	M93R	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Phrf1	A	G	7: 140,823,671 (GRCm39)	D4G	unknown	Het
Ppp4r3b	A	T	11: 29,123,306 (GRCm39)	M1L	probably damaging	Het
Prmt7	A	G	8: 106,943,874 (GRCm39)		probably null	Het
Retnlg	A	G	16: 48,694,038 (GRCm39)	T65A	possibly damaging	Het
Sbf2	T	C	7: 109,911,896 (GRCm39)	N1763D	probably benign	Het
Scn7a	A	G	2: 66,514,588 (GRCm39)	F1062S	possibly damaging	Het
Scube3	A	C	17: 28,383,027 (GRCm39)	K402Q	probably damaging	Het
Skic2	T	A	17: 35,059,166 (GRCm39)	D1067V	probably damaging	Het
Slc25a22	C	A	7: 141,013,871 (GRCm39)	D30Y	probably damaging	Het
Smim17	A	T	7: 6,427,720 (GRCm39)	Q2L	possibly damaging	Het
Son	G	T	16: 91,453,366 (GRCm39)	M704I	probably benign	Het
Son	C	T	16: 91,453,608 (GRCm39)	S785F	possibly damaging	Het
Tnfrsf21	G	A	17: 43,396,299 (GRCm39)	V528M	probably benign	Het
Tnks1bp1	T	C	2: 84,894,290 (GRCm39)	S1406P	probably benign	Het
Trim21	A	T	7: 102,212,908 (GRCm39)	V130E	probably benign	Het
Try5	T	A	6: 41,289,295 (GRCm39)	I94F	probably benign	Het
Tubb4a	C	T	17: 57,388,169 (GRCm39)	V286I	probably benign	Het
Vmn1r180	T	A	7: 23,652,076 (GRCm39)	S80T	probably benign	Het
Vmn2r114	A	C	17: 23,529,286 (GRCm39)	I272S	probably damaging	Het
Vmn2r12	A	T	5: 109,234,033 (GRCm39)	Y726*	probably null	Het
Zdhhc16	T	C	19: 41,926,465 (GRCm39)	F83L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het

Other mutations in Nova1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Nova1	APN	12	46,760,280 (GRCm39)	critical splice donor site	probably null
IGL02479:Nova1	APN	12	46,863,701 (GRCm39)	missense	unknown
IGL02742:Nova1	APN	12	46,767,475 (GRCm39)	nonsense	probably null
IGL02887:Nova1	APN	12	46,767,505 (GRCm39)	missense	unknown
IGL03064:Nova1	APN	12	46,746,861 (GRCm39)	missense	probably damaging	1.00
IGL03150:Nova1	APN	12	46,747,455 (GRCm39)	missense	possibly damaging	0.53
R1302:Nova1	UTSW	12	46,767,581 (GRCm39)	missense	unknown
R1396:Nova1	UTSW	12	46,863,676 (GRCm39)	missense	unknown
R1502:Nova1	UTSW	12	46,767,615 (GRCm39)	missense	unknown
R4027:Nova1	UTSW	12	46,863,801 (GRCm39)	unclassified	probably benign
R4329:Nova1	UTSW	12	46,767,615 (GRCm39)	missense	unknown
R4965:Nova1	UTSW	12	46,767,618 (GRCm39)	nonsense	probably null
R5015:Nova1	UTSW	12	46,863,738 (GRCm39)	missense	unknown
R5030:Nova1	UTSW	12	46,747,030 (GRCm39)	missense	probably damaging	0.97
R5691:Nova1	UTSW	12	46,863,738 (GRCm39)	missense	unknown
R7574:Nova1	UTSW	12	46,747,544 (GRCm39)	missense	unknown
R7690:Nova1	UTSW	12	46,767,549 (GRCm39)	missense	unknown
R7763:Nova1	UTSW	12	46,767,481 (GRCm39)	missense	unknown
R8496:Nova1	UTSW	12	46,760,325 (GRCm39)	nonsense	probably null
R9133:Nova1	UTSW	12	46,865,524 (GRCm39)	missense	unknown
R9151:Nova1	UTSW	12	46,746,813 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGCACATGTAGATATTTGGTG -3'
(R):5'- CGTGTGAATCCCGAAAACTGG -3'

Sequencing Primer
(F):5'- CACATGTAGATATTTGGTGTTTTTCC -3'
(R):5'- ACTGGGGAAGATTTTGTAAATGC -3'

Posted On

2021-10-11