Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Nbas'

425487

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

042961-MU

Accession Numbers

Genbank: NM_027706.1; Ensembl: ENSMUST00000042953

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13269133-13583811 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 13534577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042953]

AlphaFold

E9Q411

Predicted Effect

probably null
Transcript: ENSMUST00000042953

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576

Domain	Start	End	E-Value	Type
Pfam:Nbas_N	89	370	4.7e-171	PFAM
low complexity region	463	475	N/A	INTRINSIC
low complexity region	653	667	N/A	INTRINSIC
Pfam:Sec39	725	1375	3.8e-34	PFAM
low complexity region	1392	1404	N/A	INTRINSIC
low complexity region	1549	1566	N/A	INTRINSIC
low complexity region	2226	2252	N/A	INTRINSIC
low complexity region	2275	2285	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223081

Meta Mutation Damage Score

0.9588

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]

Allele List at MGI

All alleles(10) : Targeted, other(2) Gene trapped(8)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,646,297	V148E	probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,508,575	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900		probably benign	Het
Arrb2	T	C	11: 70,438,658	S265P	probably damaging	Het
Baiap2	T	C	11: 119,996,670	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,104	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907	V96F	probably damaging	Het
Cenpe	T	C	3: 135,259,388		probably null	Het
Crocc2	C	A	1: 93,215,641	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,461,976	C61*	probably null	Het
Dazl	T	C	17: 50,288,690	I56V	probably benign	Het
Dnah12	A	T	14: 26,735,749	D890V	probably damaging	Het
Dnah9	C	A	11: 66,095,314	E1165*	probably null	Het
Dnmt3l	T	A	10: 78,056,831		probably null	Het
Elp2	A	G	18: 24,606,903	N62S	possibly damaging	Het
Fam216b	T	A	14: 78,085,063	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,652,886	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Gm1966	T	C	7: 106,598,235		noncoding transcript	Het
Gm5724	A	G	6: 141,740,467	F216L	probably benign	Het
Igf2r	T	C	17: 12,725,416	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,618,620	F20L	probably benign	Het
Klhl5	T	A	5: 65,141,282	L135M	possibly damaging	Het
Klk1b16	A	T	7: 44,140,988	M196L	possibly damaging	Het
Ltf	T	C	9: 111,029,651	M489T	possibly damaging	Het
Mctp2	G	T	7: 72,214,087	R343S	possibly damaging	Het
Ncr1	A	T	7: 4,340,933	M177L	probably benign	Het
Net1	C	T	13: 3,886,170	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000	F375L	probably damaging	Het
Notch3	T	A	17: 32,139,189	I1687L	probably benign	Het
Obsl1	A	T	1: 75,503,261		probably benign	Het
Olfr1000	A	G	2: 85,608,283	F209S	probably benign	Het
Olfr1052	G	A	2: 86,298,217	V134M	possibly damaging	Het
Olfr325	C	G	11: 58,580,999	L52V	possibly damaging	Het
Olfr507	A	C	7: 108,622,717	I302L	probably damaging	Het
Olfr620	G	T	7: 103,611,590	Y254*	probably null	Het
Olfr698	A	T	7: 106,753,083	F102I	probably damaging	Het
Orai1	A	T	5: 123,029,501	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,766,732	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,650,187	T199K	probably damaging	Het
Prkd1	T	A	12: 50,343,137	I819F	probably damaging	Het
Ptpn9	T	C	9: 57,056,837		probably benign	Het
Rabl6	T	C	2: 25,588,654	E255G	probably damaging	Het
Sdccag3	T	C	2: 26,385,547	D244G	probably damaging	Het
Sema3e	T	C	5: 14,236,085		probably benign	Het
Serpina3c	T	C	12: 104,149,440	M282V	possibly damaging	Het
Slco2b1	A	G	7: 99,685,925	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,988,584		noncoding transcript	Het
Slco6d1	A	T	1: 98,443,644	I285F	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Sp9	C	A	2: 73,274,297	N398K	probably damaging	Het
Sycp2	A	C	2: 178,377,702		probably null	Het
Tbc1d23	T	C	16: 57,198,928	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,826,872	R285G	probably benign	Het
Trim2	T	A	3: 84,167,653	Q694L	probably null	Het
Trim23	T	A	13: 104,192,033	V293D	probably damaging	Het
Ttn	A	G	2: 76,834,839		probably benign	Het
Vmn2r12	T	A	5: 109,090,395	Y493F	probably benign	Het
Vps41	T	A	13: 18,862,538	I753N	probably damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Yme1l1	G	A	2: 23,193,234	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,356,979	C198S	probably damaging	Het

Other mutations in Nbas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Nbas	APN	12	13453075	missense	probably benign	0.19
IGL00712:Nbas	APN	12	13362625	splice site	probably benign
IGL00808:Nbas	APN	12	13566120	splice site	probably benign
IGL00915:Nbas	APN	12	13374752	nonsense	probably null
IGL00923:Nbas	APN	12	13336284	missense	possibly damaging	0.46
IGL01152:Nbas	APN	12	13360958	missense	probably damaging	1.00
IGL01633:Nbas	APN	12	13483897	missense	probably damaging	1.00
IGL01672:Nbas	APN	12	13379649	missense	possibly damaging	0.63
IGL01799:Nbas	APN	12	13324400	splice site	probably benign
IGL01812:Nbas	APN	12	13453503	missense	probably damaging	1.00
IGL01934:Nbas	APN	12	13289879	splice site	probably benign
IGL02093:Nbas	APN	12	13560962	missense	probably benign	0.00
IGL02115:Nbas	APN	12	13317692	splice site	probably benign
IGL02175:Nbas	APN	12	13566259	critical splice donor site	probably null
IGL02268:Nbas	APN	12	13405397	missense	possibly damaging	0.94
IGL02483:Nbas	APN	12	13324294	missense	probably damaging	1.00
IGL02539:Nbas	APN	12	13272703	splice site	probably benign
IGL02557:Nbas	APN	12	13361028	missense	probably damaging	1.00
IGL02815:Nbas	APN	12	13310266	missense	probably damaging	1.00
IGL02951:Nbas	APN	12	13362541	missense	probably benign
IGL03131:Nbas	APN	12	13279416	missense	probably benign	0.03
IGL03214:Nbas	APN	12	13331110	splice site	probably benign
IGL03308:Nbas	APN	12	13324348	missense	possibly damaging	0.93
IGL03368:Nbas	APN	12	13328451	missense	probably benign	0.08
IGL03372:Nbas	APN	12	13534472	missense	probably damaging	1.00
IGL03391:Nbas	APN	12	13483749	missense	probably benign	0.28
medvedev	UTSW	12	13534577	critical splice donor site	probably null
oligarchs	UTSW	12	13520750	missense	possibly damaging	0.75
putin	UTSW	12	13321755	missense	probably damaging	1.00
1mM(1):Nbas	UTSW	12	13288728	missense	probably damaging	1.00
R0057:Nbas	UTSW	12	13390957	missense	probably benign	0.00
R0076:Nbas	UTSW	12	13324336	missense	probably damaging	1.00
R0153:Nbas	UTSW	12	13273876	splice site	probably benign
R0371:Nbas	UTSW	12	13331095	missense	probably damaging	0.97
R0449:Nbas	UTSW	12	13519108	missense	probably benign	0.18
R0791:Nbas	UTSW	12	13482633	missense	probably benign	0.28
R0931:Nbas	UTSW	12	13331114	splice site	probably benign
R1236:Nbas	UTSW	12	13269241	missense	probably damaging	1.00
R1371:Nbas	UTSW	12	13482378	splice site	probably benign
R1567:Nbas	UTSW	12	13285278	missense	possibly damaging	0.70
R1587:Nbas	UTSW	12	13558685	missense	probably benign
R1719:Nbas	UTSW	12	13560977	critical splice donor site	probably null
R1747:Nbas	UTSW	12	13335898	missense	probably benign	0.00
R1777:Nbas	UTSW	12	13513562	missense	probably benign	0.16
R1848:Nbas	UTSW	12	13413597	missense	probably damaging	0.97
R1856:Nbas	UTSW	12	13474229	missense	possibly damaging	0.56
R1891:Nbas	UTSW	12	13390972	missense	possibly damaging	0.92
R1911:Nbas	UTSW	12	13566144	missense	probably benign
R1912:Nbas	UTSW	12	13566144	missense	probably benign
R2006:Nbas	UTSW	12	13414741	splice site	probably null
R2054:Nbas	UTSW	12	13474206	missense	probably benign	0.36
R2065:Nbas	UTSW	12	13566157	missense	probably damaging	1.00
R2089:Nbas	UTSW	12	13361045	missense	probably benign	0.03
R2091:Nbas	UTSW	12	13361045	missense	probably benign	0.03
R2091:Nbas	UTSW	12	13361045	missense	probably benign	0.03
R2156:Nbas	UTSW	12	13441509	missense	probably damaging	1.00
R2164:Nbas	UTSW	12	13330646	missense	possibly damaging	0.74
R2339:Nbas	UTSW	12	13362592	missense	probably benign	0.12
R2398:Nbas	UTSW	12	13432945	missense	probably damaging	0.99
R3806:Nbas	UTSW	12	13482504	missense	probably damaging	1.00
R3855:Nbas	UTSW	12	13279414	missense	possibly damaging	0.50
R4019:Nbas	UTSW	12	13482519	missense	probably damaging	1.00
R4083:Nbas	UTSW	12	13474191	missense	probably damaging	0.96
R4201:Nbas	UTSW	12	13374826	missense	probably benign	0.00
R4231:Nbas	UTSW	12	13393343	missense	probably damaging	0.98
R4552:Nbas	UTSW	12	13335937	critical splice donor site	probably null
R4560:Nbas	UTSW	12	13583527	missense	probably benign	0.00
R4728:Nbas	UTSW	12	13288739	missense	probably damaging	0.98
R4752:Nbas	UTSW	12	13482537	missense	possibly damaging	0.92
R4832:Nbas	UTSW	12	13483739	missense	probably benign	0.00
R4874:Nbas	UTSW	12	13321755	missense	probably damaging	1.00
R4988:Nbas	UTSW	12	13408265	missense	probably benign	0.45
R5020:Nbas	UTSW	12	13374712	missense	probably damaging	0.99
R5079:Nbas	UTSW	12	13374711	missense	probably damaging	1.00
R5129:Nbas	UTSW	12	13390960	missense	probably damaging	1.00
R5239:Nbas	UTSW	12	13441518	missense	probably benign	0.31
R5299:Nbas	UTSW	12	13441925	nonsense	probably null
R5351:Nbas	UTSW	12	13560849	missense	probably damaging	1.00
R5436:Nbas	UTSW	12	13374811	missense	probably damaging	1.00
R5654:Nbas	UTSW	12	13583475	missense	probably damaging	1.00
R5690:Nbas	UTSW	12	13336284	missense	probably damaging	1.00
R5842:Nbas	UTSW	12	13269266	critical splice donor site	probably null
R5959:Nbas	UTSW	12	13288801	missense	probably damaging	0.99
R5982:Nbas	UTSW	12	13393430	missense	probably benign	0.00
R6238:Nbas	UTSW	12	13482595	missense	probably benign
R6270:Nbas	UTSW	12	13324293	missense	probably damaging	1.00
R6363:Nbas	UTSW	12	13482576	missense	probably benign
R6424:Nbas	UTSW	12	13415733	critical splice donor site	probably null
R6458:Nbas	UTSW	12	13288749	missense	probably damaging	1.00
R6526:Nbas	UTSW	12	13405425	missense	probably damaging	1.00
R6654:Nbas	UTSW	12	13483874	nonsense	probably null
R7085:Nbas	UTSW	12	13285258	missense	probably damaging	1.00
R7179:Nbas	UTSW	12	13405397	missense	possibly damaging	0.94
R7197:Nbas	UTSW	12	13520750	missense	possibly damaging	0.75
R7378:Nbas	UTSW	12	13274219	missense	probably damaging	1.00
R7393:Nbas	UTSW	12	13393492	missense	probably damaging	1.00
R7425:Nbas	UTSW	12	13469880	missense	probably damaging	1.00
R7446:Nbas	UTSW	12	13393498	missense	probably benign	0.02
R7481:Nbas	UTSW	12	13356959	missense	probably damaging	0.97
R7535:Nbas	UTSW	12	13279389	missense	probably damaging	0.97
R7626:Nbas	UTSW	12	13558660	missense	probably benign	0.00
R7678:Nbas	UTSW	12	13415661	missense	probably damaging	0.97
R7912:Nbas	UTSW	12	13405457	missense	possibly damaging	0.91
R7964:Nbas	UTSW	12	13356895	missense	probably damaging	0.99
R8193:Nbas	UTSW	12	13433009	missense	probably damaging	1.00
R8325:Nbas	UTSW	12	13288795	missense	probably damaging	1.00
R8405:Nbas	UTSW	12	13279393	missense	probably damaging	1.00
R8437:Nbas	UTSW	12	13566250	missense	possibly damaging	0.46
R8559:Nbas	UTSW	12	13352808	missense	probably benign	0.00
R8684:Nbas	UTSW	12	13336367	missense	probably damaging	1.00
R8826:Nbas	UTSW	12	13352874	splice site	probably benign
R8921:Nbas	UTSW	12	13413589	missense	probably benign
R8956:Nbas	UTSW	12	13432922	missense	possibly damaging	0.51
R9083:Nbas	UTSW	12	13335855	missense	possibly damaging	0.56
R9172:Nbas	UTSW	12	13374750	missense	possibly damaging	0.65
R9430:Nbas	UTSW	12	13321653	missense	probably benign	0.35
R9627:Nbas	UTSW	12	13300202	missense	possibly damaging	0.76
R9649:Nbas	UTSW	12	13583416	missense	probably damaging	1.00
RF013:Nbas	UTSW	12	13279408	missense	possibly damaging	0.54
T0722:Nbas	UTSW	12	13352808	missense	probably benign	0.00
Z1176:Nbas	UTSW	12	13483876	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCTTTGTCCACTCTTCAGGGAG -3'
(R):5'- CCCTGTCAGCAGTCCTAAAGAC -3'

Sequencing Primer
(F):5'- TCTGCTGAAGACGTGCTGC -3'
(R):5'- TCCTAAAGACGGACATGAGAAC -3'

Posted On

2016-08-04