Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02268:Nbas'

287011

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

Accession Numbers

Genbank: NM_027706.1; Ensembl: ENSMUST00000042953

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

13269133-13583811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13405397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1204 (D1204G)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042953
AA Change: D1204G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: D1204G

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

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 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	T	A	1: 43,730,951	C23S	probably damaging	Het
2310057J18Rik	C	T	10: 28,986,246	C16Y	probably benign	Het
5330417C22Rik	C	A	3: 108,467,797	A585S	probably benign	Het
Abca13	C	T	11: 9,290,626	L830F	probably benign	Het
Apcdd1	T	C	18: 62,950,188	V363A	probably damaging	Het
Cachd1	A	G	4: 100,952,097	I260V	possibly damaging	Het
Cass4	T	A	2: 172,427,042	M350K	possibly damaging	Het
Ccdc129	A	T	6: 55,884,688		probably benign	Het
Ccnjl	A	G	11: 43,579,788	T128A	probably benign	Het
Cd6	C	T	19: 10,796,388	G361D	probably benign	Het
Cdh22	T	C	2: 165,123,719		probably benign	Het
Ces2h	T	A	8: 105,019,940	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380	T44S	probably damaging	Het
Cplx3	C	T	9: 57,602,458	E86K	possibly damaging	Het
Crbn	A	G	6: 106,795,043	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,241,155	V1267L	possibly damaging	Het
F930017D23Rik	A	G	10: 43,604,409		noncoding transcript	Het
Fam214b	T	A	4: 43,036,468	R88*	probably null	Het
Fastkd3	A	G	13: 68,583,677	D39G	probably damaging	Het
Gm17689	T	C	9: 36,581,870	Y52C	possibly damaging	Het
Golgb1	T	A	16: 36,913,128	S912R	probably benign	Het
H2-T24	T	C	17: 36,017,372	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,592,354	L11*	probably null	Het
Igsf10	A	T	3: 59,331,152	L536*	probably null	Het
Kcnma1	A	T	14: 23,543,076	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,373,716	I857L	possibly damaging	Het
Kptn	A	T	7: 16,123,861	H229L	probably benign	Het
Krt32	A	T	11: 100,088,141	M29K	probably benign	Het
Lama2	A	G	10: 27,001,116		probably benign	Het
Lpcat2b	A	C	5: 107,434,116	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,607,898	L513P	probably damaging	Het
Mon1a	T	C	9: 107,901,798	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,246,237	P135L	probably damaging	Het
Myof	T	A	19: 37,974,863	I429F	possibly damaging	Het
Myof	C	T	19: 37,954,429	V218M	possibly damaging	Het
Nckap1	G	A	2: 80,528,618	P560S	probably benign	Het
Notch2	G	A	3: 98,137,397	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,781,531	H572Y	probably damaging	Het
Olfr314	T	C	11: 58,786,725	F164L	probably benign	Het
Olfr873	T	C	9: 20,300,292	S31P	probably damaging	Het
Pcdh15	A	T	10: 74,342,672	D587V	probably damaging	Het
Pik3cb	T	C	9: 99,046,556	Y882C	probably benign	Het
Plch1	T	A	3: 63,699,283	*1074C	probably null	Het
Plcxd1	T	C	5: 110,100,274		probably benign	Het
Ppp2r2d	A	G	7: 138,872,971	N27S	probably null	Het
Prkar2a	A	G	9: 108,746,953	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,868,958	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,493,653		probably benign	Het
Rasl12	T	C	9: 65,398,664	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,418,857	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,468,719	K290R	probably damaging	Het
Rwdd4a	T	A	8: 47,550,696	L179*	probably null	Het
Scgb1b24	A	G	7: 33,744,963	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,017,722	I1022V	probably benign	Het
Smg1	A	C	7: 118,182,541	I1174M	probably benign	Het
Spata17	A	T	1: 187,140,398	M72K	probably damaging	Het
Synpo2	G	A	3: 123,116,983	P338S	probably damaging	Het
Tpi1	G	A	6: 124,814,124	T50I	probably benign	Het
Trpm1	A	G	7: 64,217,614	E354G	probably damaging	Het
Uba2	A	G	7: 34,142,736		probably null	Het
Wnk1	G	A	6: 119,937,373	R1823*	probably null	Het
Zfp248	A	C	6: 118,453,840		probably benign	Het
Zfp51	A	T	17: 21,463,419	K99*	probably null	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
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
R5389:Nbas	UTSW	12	13534577	critical splice donor site	probably null
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
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

Posted On

2015-04-16