Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Nova1'

363777

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: 0.668) question?

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

46744678-46866143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46767505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 139 (Q139K)

Ref Sequence

ENSEMBL: ENSMUSP00000021438 (fasta)

Gene Model

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

AlphaFold

Q9JKN6

Predicted Effect

unknown
Transcript: ENSMUST00000021438
AA Change: Q139K

SMART Domains

Protein: ENSMUSP00000021438
Gene: ENSMUSG00000021047
AA Change: Q139K

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: Q70K

Predicted Effect

unknown
Transcript: ENSMUST00000219886
AA Change: Q46K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220258

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,166,168 (GRCm39)	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,908,995 (GRCm39)	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,675,288 (GRCm39)		probably benign	Het
Anxa8	T	A	14: 33,818,481 (GRCm39)		probably null	Het
Ap1ar	T	C	3: 127,602,192 (GRCm39)	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,092,939 (GRCm39)	S155A	probably benign	Het
Armc9	T	C	1: 86,092,557 (GRCm39)	F107S	probably damaging	Het
Ash1l	C	A	3: 88,891,488 (GRCm39)	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,656,512 (GRCm39)	I713F	probably damaging	Het
BC005624	A	C	2: 30,863,317 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,169,586 (GRCm39)	D365G	probably benign	Het
Ccdc110	A	G	8: 46,396,221 (GRCm39)	N704S	probably benign	Het
Ccr10	G	T	11: 101,065,492 (GRCm39)	L13I	probably benign	Het
Cfap52	A	G	11: 67,844,341 (GRCm39)	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,644,936 (GRCm39)	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,444,308 (GRCm39)	D935V	probably damaging	Het
Cog7	T	C	7: 121,543,067 (GRCm39)	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,474,369 (GRCm39)	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,343,824 (GRCm39)	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,801,592 (GRCm39)	F187L	probably damaging	Het
Dmd	T	A	X: 82,922,110 (GRCm39)	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,874,775 (GRCm39)	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,561,519 (GRCm39)	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,496,497 (GRCm39)	I820T	probably damaging	Het
Dsel	T	C	1: 111,788,462 (GRCm39)	D691G	possibly damaging	Het
Fbp1	T	A	13: 63,016,894 (GRCm39)	M203L	probably benign	Het
Fndc1	T	C	17: 7,992,470 (GRCm39)	T409A	unknown	Het
Golgb1	T	G	16: 36,746,211 (GRCm39)	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,882,583 (GRCm39)	T190A	probably benign	Het
Klra4	C	T	6: 130,021,033 (GRCm39)	C254Y	probably damaging	Het
Large1	A	T	8: 73,858,667 (GRCm39)	V67E	probably benign	Het
Lins1	T	C	7: 66,363,931 (GRCm39)	S609P	probably damaging	Het
Magi3	T	C	3: 104,002,473 (GRCm39)	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,754,523 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,037 (GRCm39)	D276G	probably benign	Het
Myh9	T	A	15: 77,680,220 (GRCm39)	K185*	probably null	Het
Myof	T	C	19: 37,909,227 (GRCm39)		probably null	Het
Naip2	T	G	13: 100,298,020 (GRCm39)	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,326,603 (GRCm39)		probably benign	Het
Nbeal2	T	A	9: 110,457,344 (GRCm39)	H2273L	probably damaging	Het
Neb	T	C	2: 52,090,733 (GRCm39)	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,346,370 (GRCm39)	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,718,080 (GRCm39)	N375S	probably benign	Het
Opa3	A	T	7: 18,962,507 (GRCm39)	Q47L	probably damaging	Het
Or10g7	T	A	9: 39,905,109 (GRCm39)	M1K	probably null	Het
Or2t47	A	G	11: 58,442,987 (GRCm39)	L26P	probably damaging	Het
Or6c205	T	A	10: 129,086,794 (GRCm39)	Y130*	probably null	Het
Pacs1	A	T	19: 5,185,138 (GRCm39)		probably benign	Het
Pappa2	T	A	1: 158,609,829 (GRCm39)	H1544L	probably damaging	Het
Pax8	A	G	2: 24,334,627 (GRCm39)	S48P	probably damaging	Het
Pdilt	T	C	7: 119,097,272 (GRCm39)	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Ppp6r1	T	A	7: 4,645,211 (GRCm39)	I80F	probably damaging	Het
Pycr2	T	A	1: 180,732,304 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 78,976,187 (GRCm39)		probably benign	Het
Rbm44	T	A	1: 91,080,902 (GRCm39)	D363E	probably damaging	Het
Rnf213	A	T	11: 119,318,336 (GRCm39)	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,606,155 (GRCm39)	S4476P	probably damaging	Het
Scara5	G	A	14: 66,000,278 (GRCm39)	D483N	unknown	Het
Scmh1	T	A	4: 120,325,586 (GRCm39)	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,055,511 (GRCm39)	V565E	probably damaging	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Skint6	T	A	4: 113,095,381 (GRCm39)	R93*	probably null	Het
Skint7	T	C	4: 111,839,375 (GRCm39)	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,770,939 (GRCm39)	I197V	probably benign	Het
Slit2	A	G	5: 48,374,816 (GRCm39)	T361A	probably benign	Het
Sugp1	G	A	8: 70,522,776 (GRCm39)	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301 (GRCm39)	G388D	probably damaging	Het
Tbpl2	G	T	2: 23,983,888 (GRCm39)	A183E	probably damaging	Het
Tcerg1l	G	T	7: 137,831,619 (GRCm39)	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,559,046 (GRCm39)	T309A	probably benign	Het
Thbs4	T	A	13: 92,927,306 (GRCm39)	Y61F	probably benign	Het
Tmem117	C	A	15: 94,992,656 (GRCm39)	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,132,993 (GRCm39)	V71A	probably benign	Het
Tmem268	G	T	4: 63,486,691 (GRCm39)		probably benign	Het
Tmem43	T	A	6: 91,454,356 (GRCm39)	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,804,812 (GRCm39)	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,645,188 (GRCm39)		probably benign	Het
Tsn	T	C	1: 118,237,551 (GRCm39)	I38V	probably benign	Het
Ttc41	A	T	10: 86,569,518 (GRCm39)	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,694,552 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,238,351 (GRCm39)	I463N	probably benign	Het
Wdsub1	T	A	2: 59,683,176 (GRCm39)	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,762,427 (GRCm39)	I56N	probably benign	Het
Zfand4	A	G	6: 116,250,617 (GRCm39)	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,842,268 (GRCm39)	E15G	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
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

2015-12-18