Mutagenetix > Incidental Mutation

Incidental Mutation 'R1502:Nova1'

169389

Institutional Source

Beutler Lab

Gene Symbol

Nova1

Ensembl Gene

ENSMUSG00000021047

Gene Name

NOVA alternative splicing regulator 1

Synonyms

Nova-1, 9430099M15Rik

MMRRC Submission

039552-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R1502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46744678-46866143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46767615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 102 (I102T)

Ref Sequence

ENSEMBL: ENSMUSP00000021438 (fasta)

Gene Model

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

AlphaFold

Q9JKN6

Predicted Effect

unknown
Transcript: ENSMUST00000021438
AA Change: I102T

SMART Domains

Protein: ENSMUSP00000021438
Gene: ENSMUSG00000021047
AA Change: I102T

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: ENSMUST00000218639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218829

Predicted Effect

unknown
Transcript: ENSMUST00000219330
AA Change: I33T

Predicted Effect

unknown
Transcript: ENSMUST00000219886
AA Change: I9T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220258

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	G	11: 109,865,471 (GRCm39)	T329P	probably damaging	Het
Adamts4	C	A	1: 171,086,559 (GRCm39)	P784T	probably damaging	Het
Adamts6	T	C	13: 104,630,145 (GRCm39)	L1096P	probably damaging	Het
Ap1b1	A	G	11: 4,990,290 (GRCm39)	S849G	probably benign	Het
Arap2	T	C	5: 62,761,747 (GRCm39)	S1660G	probably benign	Het
Atp10b	A	C	11: 43,121,174 (GRCm39)	T946P	probably damaging	Het
Brpf1	A	G	6: 113,299,381 (GRCm39)	D1103G	probably damaging	Het
Bub1	A	G	2: 127,669,339 (GRCm39)	Y102H	probably damaging	Het
Ccdc182	A	G	11: 88,185,193 (GRCm39)	E91G	probably benign	Het
Cd200r4	C	T	16: 44,653,803 (GRCm39)	T154M	probably damaging	Het
Cdh20	A	G	1: 104,881,755 (GRCm39)	T407A	probably benign	Het
Col6a2	T	C	10: 76,450,512 (GRCm39)	I140V	probably benign	Het
Csn3	C	A	5: 88,077,983 (GRCm39)	T163K	probably damaging	Het
Dars2	A	T	1: 160,874,375 (GRCm39)	L438*	probably null	Het
Dbr1	T	C	9: 99,464,440 (GRCm39)	L289P	probably damaging	Het
Ddx46	A	G	13: 55,811,122 (GRCm39)	R573G	possibly damaging	Het
Defb10	T	C	8: 22,348,972 (GRCm39)	I10T	possibly damaging	Het
Dis3l	T	C	9: 64,233,069 (GRCm39)	E136G	possibly damaging	Het
Dnajb13	T	C	7: 100,156,668 (GRCm39)	Q136R	probably benign	Het
Dse	A	T	10: 34,029,214 (GRCm39)	S625R	probably damaging	Het
Dvl3	A	G	16: 20,342,209 (GRCm39)	D94G	probably damaging	Het
Dynlt2a2	A	G	17: 15,187,876 (GRCm39)	F133L	probably benign	Het
E130311K13Rik	A	C	3: 63,822,968 (GRCm39)	Y225*	probably null	Het
Etnppl	A	G	3: 130,422,438 (GRCm39)	I222V	probably benign	Het
Evc2	T	C	5: 37,550,440 (GRCm39)	L818P	probably benign	Het
Fbn1	A	T	2: 125,205,626 (GRCm39)	C1083*	probably null	Het
Flnc	G	A	6: 29,438,693 (GRCm39)	V196I	probably benign	Het
Fscn3	A	G	6: 28,435,622 (GRCm39)	D415G	probably benign	Het
Gm4861	A	C	3: 137,256,381 (GRCm39)	V75G	probably damaging	Het
Gpld1	A	T	13: 25,155,399 (GRCm39)	T345S	probably benign	Het
Grik4	T	C	9: 42,432,169 (GRCm39)	S943G	probably damaging	Het
Grik4	C	T	9: 42,502,743 (GRCm39)	R460Q	probably benign	Het
Ifi207	A	C	1: 173,556,872 (GRCm39)	L629R	possibly damaging	Het
Ift52	G	A	2: 162,871,782 (GRCm39)		probably null	Het
Insl3	A	G	8: 72,142,876 (GRCm39)	D79G	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Lag3	T	C	6: 124,886,206 (GRCm39)	Y249C	probably damaging	Het
Lipe	T	C	7: 25,097,572 (GRCm39)	N124D	possibly damaging	Het
Lnpep	A	G	17: 17,791,906 (GRCm39)	Y412H	probably damaging	Het
Lrtm2	A	G	6: 119,294,235 (GRCm39)	Y299H	probably benign	Het
Lypd4	T	C	7: 24,566,253 (GRCm39)	T24A	probably benign	Het
Magi1	T	A	6: 93,671,151 (GRCm39)	I805F	probably damaging	Het
Mfap3	T	C	11: 57,418,975 (GRCm39)	L45P	probably benign	Het
Nbea	G	A	3: 55,912,310 (GRCm39)	P1159L	probably benign	Het
Ndst4	A	T	3: 125,231,407 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,374,335 (GRCm39)	N229K	possibly damaging	Het
Npepps	T	C	11: 97,109,401 (GRCm39)	E725G	possibly damaging	Het
Or11g27	A	T	14: 50,771,234 (GRCm39)	M122L	possibly damaging	Het
Or13a1	T	C	6: 116,471,242 (GRCm39)	I224T	probably damaging	Het
Or5l14	T	C	2: 87,792,379 (GRCm39)	N286D	probably damaging	Het
Or6c69c	T	C	10: 129,910,741 (GRCm39)	I154T	probably damaging	Het
Pappa2	A	T	1: 158,784,858 (GRCm39)	W51R	probably damaging	Het
Pde8a	T	C	7: 80,942,007 (GRCm39)	S149P	probably damaging	Het
Pgap6	A	G	17: 26,339,290 (GRCm39)	T535A	possibly damaging	Het
Phkb	T	A	8: 86,785,968 (GRCm39)	L1052Q	possibly damaging	Het
Pou5f2	T	A	13: 78,173,370 (GRCm39)	L104Q	probably benign	Het
Pramel32	T	A	4: 88,546,269 (GRCm39)	I358F	probably benign	Het
Psme2b	A	T	11: 48,836,576 (GRCm39)	W124R	probably damaging	Het
Ptk2b	G	A	14: 66,400,529 (GRCm39)	S762L	possibly damaging	Het
Ptprs	T	C	17: 56,744,992 (GRCm39)	N248S	probably benign	Het
Rgs22	G	A	15: 36,080,997 (GRCm39)	T705I	probably damaging	Het
Rnf123	T	C	9: 107,945,709 (GRCm39)		probably null	Het
Sel1l2	A	T	2: 140,231,515 (GRCm39)	I13N	probably damaging	Het
Slc39a4	T	C	15: 76,500,793 (GRCm39)	T57A	probably benign	Het
Smpdl3a	T	G	10: 57,685,187 (GRCm39)	V319G	probably damaging	Het
Syt9	T	C	7: 107,035,694 (GRCm39)	L237P	probably damaging	Het
Tbc1d16	G	T	11: 119,044,830 (GRCm39)	A536E	probably damaging	Het
Tcf20	T	C	15: 82,739,777 (GRCm39)	D558G	probably damaging	Het
Tdpoz2	A	T	3: 93,559,453 (GRCm39)	M173K	probably benign	Het
Tek	A	G	4: 94,669,339 (GRCm39)	I113M	probably damaging	Het
Tmem50a	A	T	4: 134,636,980 (GRCm39)	D50E	probably benign	Het
Trappc11	A	T	8: 47,983,862 (GRCm39)	V10E	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,681 (GRCm39)	R189*	probably null	Het
Vmn2r63	A	T	7: 42,578,015 (GRCm39)	D174E	possibly damaging	Het
Zc3h10	A	T	10: 128,380,151 (GRCm39)	M402K	probably damaging	Het
Zfp109	T	C	7: 23,927,588 (GRCm39)	H615R	probably damaging	Het
Zfp982	A	C	4: 147,597,126 (GRCm39)	H161P	probably benign	Het
Zhx1	A	G	15: 57,917,992 (GRCm39)	F85L	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
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

Predicted Primers

PCR Primer
(F):5'- GGATAGCTCTGCCTGATTTCCCAAC -3'
(R):5'- CCCCAGAAATGAGTGATGTGCTTGC -3'

Sequencing Primer
(F):5'- CTAAACACTCACTTGTTTGATGCG -3'
(R):5'- AAATGAGTGATGTGCTTGCATCTC -3'

Posted On

2014-04-13