Mutagenetix > Incidental Mutation

Incidental Mutation 'R5691:Nova1'

443698

Institutional Source

Beutler Lab

Gene Symbol

Nova1

Ensembl Gene

ENSMUSG00000021047

Gene Name

NOVA alternative splicing regulator 1

Synonyms

Nova-1, 9430099M15Rik

MMRRC Submission

043324-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R5691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46744678-46866143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46863738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 71 (T71A)

Ref Sequence

ENSEMBL: ENSMUSP00000021438 (fasta)

Gene Model

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

AlphaFold

Q9JKN6

Predicted Effect

unknown
Transcript: ENSMUST00000021438
AA Change: T71A

SMART Domains

Protein: ENSMUSP00000021438
Gene: ENSMUSG00000021047
AA Change: T71A

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

noncoding transcript
Transcript: ENSMUST00000218829

Predicted Effect

unknown
Transcript: ENSMUST00000219330
AA Change: T2A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220258

Meta Mutation Damage Score

0.1325

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (60/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410022M11Rik	A	G	14: 57,049,830 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,890,970 (GRCm39)	M509K	probably damaging	Het
Ap4m1	A	G	5: 138,170,653 (GRCm39)	Y34C	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Bcl10	C	T	3: 145,638,904 (GRCm39)	T182I	probably benign	Het
Cdc123	T	A	2: 5,827,986 (GRCm39)	N87I	probably benign	Het
Cfap46	T	C	7: 139,186,616 (GRCm39)	E2431G	possibly damaging	Het
Dcc	T	C	18: 71,708,154 (GRCm39)	T521A	probably damaging	Het
Defb46	T	A	8: 19,292,149 (GRCm39)	I55K	probably benign	Het
Dlgap4	A	G	2: 156,546,390 (GRCm39)	T353A	probably benign	Het
Eqtn	C	A	4: 94,811,965 (GRCm39)		probably null	Het
Ermn	A	T	2: 57,937,776 (GRCm39)	M279K	probably damaging	Het
Fan1	C	A	7: 64,004,118 (GRCm39)		probably null	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Hectd4	A	G	5: 121,486,878 (GRCm39)	D3291G	possibly damaging	Het
Hid1	A	G	11: 115,239,645 (GRCm39)	W762R	probably damaging	Het
Idi2l	A	T	13: 8,992,693 (GRCm39)	Y91*	probably null	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Inpp4b	T	A	8: 82,617,323 (GRCm39)		probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Jph1	T	G	1: 17,074,587 (GRCm39)	Q477P	probably benign	Het
Kdm4c	A	T	4: 74,252,965 (GRCm39)	I511L	probably benign	Het
Lrp2	T	C	2: 69,332,897 (GRCm39)	D1540G	probably damaging	Het
Lrrc69	T	A	4: 14,769,648 (GRCm39)	I168F	probably damaging	Het
Mgat4e	A	T	1: 134,468,729 (GRCm39)		probably benign	Het
Mroh7	C	A	4: 106,559,815 (GRCm39)	G704V	probably damaging	Het
Nadsyn1	C	T	7: 143,366,316 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,250,774 (GRCm39)	C303S	probably damaging	Het
Nrcam	T	C	12: 44,611,039 (GRCm39)	Y554H	probably damaging	Het
Nubpl	G	A	12: 52,152,059 (GRCm39)		probably benign	Het
Oasl2	C	A	5: 115,037,828 (GRCm39)	T75K	possibly damaging	Het
Or8h9	A	T	2: 86,789,616 (GRCm39)	F62Y	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Parp14	A	G	16: 35,683,909 (GRCm39)	V139A	probably benign	Het
Pgam5	G	A	5: 110,414,959 (GRCm39)	P85S	probably damaging	Het
Phpt1	T	C	2: 25,463,707 (GRCm39)	Y96C	probably damaging	Het
Plekhm2	A	C	4: 141,355,600 (GRCm39)	S867A	possibly damaging	Het
Pramel26	A	T	4: 143,538,579 (GRCm39)	W131R	probably benign	Het
Prss21	A	G	17: 24,087,759 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,563,254 (GRCm39)	Y108N	probably damaging	Het
Riox1	C	T	12: 83,998,466 (GRCm39)	T334I	possibly damaging	Het
Rps3a2	G	T	14: 88,360,483 (GRCm39)		noncoding transcript	Het
Selenot	C	T	3: 58,493,447 (GRCm39)	A108V	probably benign	Het
Setd3	A	T	12: 108,126,544 (GRCm39)	M98K	probably benign	Het
Slc22a27	T	C	19: 7,904,035 (GRCm39)	H34R	possibly damaging	Het
Slco1a8	A	T	6: 141,940,581 (GRCm39)	Y93*	probably null	Het
Sp3	A	G	2: 72,801,803 (GRCm39)	L70S	probably damaging	Het
Syne2	TCCAGGTAGGGCACACC	TCC	12: 76,074,630 (GRCm39)		probably null	Het
Tcl1b4	C	A	12: 105,168,806 (GRCm39)	D23E	possibly damaging	Het
Tespa1	T	A	10: 130,190,638 (GRCm39)		probably null	Het
Tmc7	T	C	7: 118,141,116 (GRCm39)	I672V	probably benign	Het
Trps1	T	A	15: 50,690,700 (GRCm39)	Q14L	probably benign	Het
Vmn2r73	A	G	7: 85,507,299 (GRCm39)	V671A	probably damaging	Het
Zfp106	G	A	2: 120,354,952 (GRCm39)	S1273F	probably damaging	Het
Zfp90	C	A	8: 107,151,710 (GRCm39)	Y474*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TAGCATTCCAAAGCATGCAGAG -3'
(R):5'- GCAATTCTACGTCCATTGGTTTAG -3'

Sequencing Primer
(F):5'- TCCAAAGCATGCAGAGAATTATC -3'
(R):5'- CTACGTCCATTGGTTTAGTTGATG -3'

Posted On

2016-11-09