Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01726:Nova1'

105300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nova1

Ensembl Gene

ENSMUSG00000021047

Gene Name

NOVA alternative splicing regulator 1

Synonyms

Nova-1, 9430099M15Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

IGL01726

Quality Score

Status

Chromosome

Chromosomal Location

46744678-46866143 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 46760280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9JKN6

Predicted Effect

probably null
Transcript: ENSMUST00000021438

SMART Domains

Protein: ENSMUSP00000021438
Gene: ENSMUSG00000021047

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 null
Transcript: ENSMUST00000219330

Predicted Effect

probably benign
Transcript: ENSMUST00000219886

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,638,147 (GRCm39)		probably null	Het
Arpc2	A	G	1: 74,287,338 (GRCm39)	T53A	probably benign	Het
Ccdc170	C	A	10: 4,499,713 (GRCm39)	L545M	probably benign	Het
Ccm2l	T	C	2: 152,922,821 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,810,391 (GRCm39)	N2166D	probably benign	Het
Clca4b	T	G	3: 144,634,103 (GRCm39)	D104A	probably damaging	Het
Clcnka	C	T	4: 141,120,051 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,551,518 (GRCm39)	N201K	probably damaging	Het
Cyp1a2	G	A	9: 57,589,485 (GRCm39)	L110F	possibly damaging	Het
Dhtkd1	T	C	2: 5,947,467 (GRCm39)	T6A	unknown	Het
Enthd1	A	C	15: 80,336,652 (GRCm39)	L594R	probably damaging	Het
Espnl	A	G	1: 91,272,626 (GRCm39)	D618G	probably benign	Het
Gm6096	A	T	7: 33,950,904 (GRCm39)	I148F	probably damaging	Het
Hsf5	C	T	11: 87,526,951 (GRCm39)	T541I	probably benign	Het
Il18r1	A	G	1: 40,537,563 (GRCm39)	S443G	possibly damaging	Het
Il1a	T	C	2: 129,146,640 (GRCm39)	D151G	possibly damaging	Het
Ints1	A	G	5: 139,754,166 (GRCm39)		probably benign	Het
Kcnh1	A	C	1: 192,188,164 (GRCm39)	D875A	possibly damaging	Het
Naip6	T	A	13: 100,439,760 (GRCm39)	I336F	probably benign	Het
Napepld	A	G	5: 21,880,657 (GRCm39)	F246S	possibly damaging	Het
Nsa2	C	A	13: 97,268,525 (GRCm39)	A181S	probably damaging	Het
Ntn5	C	A	7: 45,343,671 (GRCm39)	R337S	probably damaging	Het
Nynrin	T	C	14: 56,101,611 (GRCm39)	S427P	probably benign	Het
Or52e5	A	G	7: 104,718,836 (GRCm39)	E54G	probably damaging	Het
Pcgf1	T	A	6: 83,055,867 (GRCm39)		probably null	Het
Pfn4	T	A	12: 4,824,446 (GRCm39)	L58I	probably benign	Het
Plekha1	C	A	7: 130,499,059 (GRCm39)	P116Q	probably damaging	Het
Pou5f2	T	C	13: 78,173,300 (GRCm39)	S81P	possibly damaging	Het
Prag1	A	G	8: 36,570,146 (GRCm39)	D243G	probably damaging	Het
Rbm26	G	A	14: 105,389,943 (GRCm39)	P227L	probably damaging	Het
Rgl1	A	T	1: 152,394,904 (GRCm39)	N756K	probably damaging	Het
Rhou	A	T	8: 124,380,880 (GRCm39)	T66S	possibly damaging	Het
Rspo3	A	T	10: 29,380,704 (GRCm39)	D103E	probably benign	Het
Rundc3b	T	C	5: 8,570,902 (GRCm39)	K306E	probably benign	Het
Slc25a32	A	G	15: 38,965,466 (GRCm39)		probably benign	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Tars3	A	G	7: 65,332,566 (GRCm39)	T556A	possibly damaging	Het
Tmem266	A	G	9: 55,342,486 (GRCm39)	K324E	probably benign	Het
Tnrc6c	T	C	11: 117,640,161 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,817,971 (GRCm39)	S452T	probably damaging	Het
Tspear	T	A	10: 77,717,121 (GRCm39)		probably benign	Het
Ttll5	T	G	12: 85,965,708 (GRCm39)	I571S	probably benign	Het
Ttn	T	C	2: 76,797,433 (GRCm39)	T544A	probably benign	Het
Ubn1	T	C	16: 4,891,334 (GRCm39)		probably null	Het
Ubr2	C	A	17: 47,303,907 (GRCm39)		probably benign	Het
Usp21	A	T	1: 171,111,574 (GRCm39)	W360R	probably damaging	Het
Vmn2r62	A	T	7: 42,414,526 (GRCm39)	L639H	probably damaging	Het
Zc3h7b	T	A	15: 81,656,000 (GRCm39)	I116N	possibly damaging	Het
Zfp618	C	T	4: 63,050,872 (GRCm39)	T551I	probably damaging	Het
Zfp804b	T	C	5: 7,230,707 (GRCm39)		probably benign	Het
Zkscan8	T	C	13: 21,704,973 (GRCm39)	H322R	probably benign	Het
Zwint	T	G	10: 72,493,019 (GRCm39)		probably null	Het

Other mutations in Nova1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8991:Nova1	UTSW	12	46,863,800 (GRCm39)	missense	unknown
R9133:Nova1	UTSW	12	46,865,524 (GRCm39)	missense	unknown
R9151:Nova1	UTSW	12	46,746,813 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21