Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00541:Nbea'

12264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nbea

Ensembl Gene

ENSMUSG00000027799

Gene Name

neurobeachin

Synonyms

Accession Numbers

Genbank: NM_030595

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00541

Quality Score

Status

Chromosome

Chromosomal Location

55625195-56183701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55968089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1720 (P1720L)

Ref Sequence

ENSEMBL: ENSMUSP00000029374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029374]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029374
AA Change: P1720L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029374
Gene: ENSMUSG00000027799
AA Change: P1720L

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
Pfam:Laminin_G_3	228	393	2.8e-13	PFAM
Pfam:DUF4704	462	733	4e-113	PFAM
low complexity region	792	802	N/A	INTRINSIC
low complexity region	964	969	N/A	INTRINSIC
low complexity region	1781	1790	N/A	INTRINSIC
low complexity region	1791	1807	N/A	INTRINSIC
low complexity region	1835	1845	N/A	INTRINSIC
Pfam:DUF1088	1956	2122	3.5e-91	PFAM
Pfam:PH_BEACH	2148	2245	2.6e-32	PFAM
Beach	2276	2553	1.3e-205	SMART
WD40	2659	2696	2.12e2	SMART
WD40	2699	2742	2.22e0	SMART
WD40	2759	2798	9.21e0	SMART
WD40	2842	2880	2.88e-1	SMART
WD40	2883	2922	8.91e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196577

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 member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Gene trapped(3) Transgenic(1)

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp2k	G	A	5: 97,063,548		probably null	Het
Col6a3	T	C	1: 90,802,142	H1207R	possibly damaging	Het
Efl1	T	C	7: 82,658,111	S72P	probably damaging	Het
Fbxw9	A	T	8: 85,066,590	I435F	probably damaging	Het
Gm14548	T	A	7: 3,897,386		probably benign	Het
Gm9837	G	A	11: 53,470,252		probably benign	Het
Lama2	C	A	10: 27,188,306	L1226F	probably benign	Het
Slco1a6	G	T	6: 142,096,299	T517K	possibly damaging	Het
Sult2a2	T	C	7: 13,734,759	L50P	probably damaging	Het
Syt9	A	T	7: 107,502,180	N378Y	probably null	Het
Tchh	A	G	3: 93,446,250	E999G	unknown	Het
Usp9x	A	G	X: 13,141,746	T1425A	probably benign	Het

Other mutations in Nbea

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Nbea	APN	3	55628493	missense	probably damaging	1.00
IGL00584:Nbea	APN	3	56082448	missense	probably damaging	0.98
IGL00648:Nbea	APN	3	56009260	missense	probably damaging	0.98
IGL00785:Nbea	APN	3	55955393	missense	probably benign
IGL00899:Nbea	APN	3	55642845	missense	probably benign	0.32
IGL00955:Nbea	APN	3	56005472	missense	possibly damaging	0.45
IGL01296:Nbea	APN	3	56031536	missense	probably benign	0.04
IGL01299:Nbea	APN	3	55690894	missense	probably damaging	1.00
IGL01393:Nbea	APN	3	56005308	missense	probably benign	0.02
IGL01550:Nbea	APN	3	55805248	missense	possibly damaging	0.93
IGL02023:Nbea	APN	3	55681016	missense	probably damaging	1.00
IGL02034:Nbea	APN	3	55968156	missense	probably damaging	1.00
IGL02061:Nbea	APN	3	55717887	missense	possibly damaging	0.54
IGL02082:Nbea	APN	3	55968167	missense	possibly damaging	0.88
IGL02113:Nbea	APN	3	55992492	missense	probably benign
IGL02188:Nbea	APN	3	55983837	missense	probably benign	0.00
IGL02319:Nbea	APN	3	55985738	missense	probably damaging	1.00
IGL02406:Nbea	APN	3	56086266	missense	probably benign	0.02
IGL02494:Nbea	APN	3	55805351	missense	probably benign	0.02
IGL02550:Nbea	APN	3	56019414	missense	probably damaging	0.98
IGL02706:Nbea	APN	3	56037278	missense	probably damaging	1.00
IGL02718:Nbea	APN	3	55632062	nonsense	probably null
IGL02822:Nbea	APN	3	56019447	missense	possibly damaging	0.93
IGL02885:Nbea	APN	3	55631986	missense	probably benign	0.01
IGL03000:Nbea	APN	3	56004627	missense	possibly damaging	0.94
IGL03081:Nbea	APN	3	56079918	missense	probably damaging	1.00
IGL03091:Nbea	APN	3	56085304	missense	probably damaging	1.00
IGL03368:Nbea	APN	3	56079930	missense	probably damaging	0.98
Neches	UTSW	3	55953034	critical splice donor site	probably null
scotland	UTSW	3	55626908	missense	probably damaging	1.00
Wales	UTSW	3	56091119	missense	probably damaging	1.00
FR4340:Nbea	UTSW	3	56009212	critical splice donor site	probably benign
G4846:Nbea	UTSW	3	56087497	missense	probably damaging	0.98
IGL02835:Nbea	UTSW	3	55717869	missense	possibly damaging	0.88
LCD18:Nbea	UTSW	3	55701527	intron	probably benign
R0087:Nbea	UTSW	3	56091023	missense	possibly damaging	0.92
R0220:Nbea	UTSW	3	56005303	missense	probably benign	0.30
R0324:Nbea	UTSW	3	56057948	critical splice donor site	probably null
R0330:Nbea	UTSW	3	55642817	missense	probably benign	0.27
R0391:Nbea	UTSW	3	56037277	missense	probably damaging	1.00
R0394:Nbea	UTSW	3	56029907	missense	probably damaging	1.00
R0419:Nbea	UTSW	3	55819294	missense	probably benign	0.05
R0503:Nbea	UTSW	3	55642836	missense	possibly damaging	0.79
R0521:Nbea	UTSW	3	56008268	missense	probably damaging	1.00
R0595:Nbea	UTSW	3	55628496	missense	probably benign	0.18
R0894:Nbea	UTSW	3	56009340	missense	possibly damaging	0.89
R1072:Nbea	UTSW	3	56086196	missense	possibly damaging	0.94
R1125:Nbea	UTSW	3	55857006	nonsense	probably null
R1169:Nbea	UTSW	3	55968323	missense	probably benign	0.00
R1241:Nbea	UTSW	3	56058040	missense	probably damaging	1.00
R1269:Nbea	UTSW	3	56004781	missense	probably benign	0.05
R1406:Nbea	UTSW	3	56037281	missense	probably benign	0.00
R1406:Nbea	UTSW	3	56037281	missense	probably benign	0.00
R1457:Nbea	UTSW	3	56085327	missense	probably damaging	1.00
R1482:Nbea	UTSW	3	56079993	missense	probably damaging	1.00
R1483:Nbea	UTSW	3	56002790	missense	probably benign	0.25
R1502:Nbea	UTSW	3	56004889	missense	probably benign	0.03
R1544:Nbea	UTSW	3	56058827	missense	probably damaging	0.99
R1629:Nbea	UTSW	3	56002891	missense	possibly damaging	0.52
R1647:Nbea	UTSW	3	55630229	missense	probably damaging	0.97
R1663:Nbea	UTSW	3	55645986	missense	possibly damaging	0.95
R1722:Nbea	UTSW	3	55665695	missense	probably damaging	1.00
R1757:Nbea	UTSW	3	55630189	missense	possibly damaging	0.83
R1771:Nbea	UTSW	3	55934519	missense	probably benign	0.00
R1796:Nbea	UTSW	3	55643708	missense	possibly damaging	0.48
R1844:Nbea	UTSW	3	56082436	missense	probably damaging	0.97
R1872:Nbea	UTSW	3	55642889	missense	probably benign	0.12
R1938:Nbea	UTSW	3	56085322	missense	probably damaging	1.00
R1940:Nbea	UTSW	3	55953100	missense	possibly damaging	0.78
R2062:Nbea	UTSW	3	56086157	splice site	probably benign
R2066:Nbea	UTSW	3	55968146	missense	probably damaging	1.00
R2097:Nbea	UTSW	3	55723217	missense	probably damaging	0.96
R2181:Nbea	UTSW	3	56029939	missense	possibly damaging	0.92
R2274:Nbea	UTSW	3	55988085	splice site	probably null
R2345:Nbea	UTSW	3	56085279	missense	probably damaging	1.00
R2423:Nbea	UTSW	3	56085306	missense	probably damaging	1.00
R2434:Nbea	UTSW	3	55647460	missense	possibly damaging	0.91
R2880:Nbea	UTSW	3	55647358	missense	probably benign	0.04
R2881:Nbea	UTSW	3	55647358	missense	probably benign	0.04
R2940:Nbea	UTSW	3	55934624	missense	probably benign	0.24
R3500:Nbea	UTSW	3	55681010	missense	possibly damaging	0.88
R3765:Nbea	UTSW	3	56005549	missense	probably damaging	1.00
R3790:Nbea	UTSW	3	56005029	missense	probably benign
R3808:Nbea	UTSW	3	55717848	missense	probably benign	0.02
R3845:Nbea	UTSW	3	56086292	splice site	probably benign
R4182:Nbea	UTSW	3	56008427	missense	probably damaging	0.99
R4385:Nbea	UTSW	3	56000638	missense	possibly damaging	0.77
R4419:Nbea	UTSW	3	56009600	missense	probably damaging	1.00
R4426:Nbea	UTSW	3	56082379	missense	probably damaging	0.98
R4451:Nbea	UTSW	3	55992332	critical splice donor site	probably null
R4456:Nbea	UTSW	3	55643784	missense	probably benign	0.00
R4604:Nbea	UTSW	3	55723648	missense	probably benign	0.18
R4687:Nbea	UTSW	3	56058065	missense	probably damaging	1.00
R4758:Nbea	UTSW	3	56005403	missense	probably benign
R4840:Nbea	UTSW	3	55710670	missense	probably benign	0.37
R4888:Nbea	UTSW	3	56005355	missense	possibly damaging	0.61
R4954:Nbea	UTSW	3	56035958	missense	probably damaging	1.00
R4972:Nbea	UTSW	3	56085246	missense	probably damaging	0.99
R4980:Nbea	UTSW	3	55647351	splice site	probably null
R4980:Nbea	UTSW	3	55953045	missense	probably benign	0.00
R5104:Nbea	UTSW	3	56079927	missense	probably damaging	1.00
R5139:Nbea	UTSW	3	55626963	missense	possibly damaging	0.90
R5166:Nbea	UTSW	3	56019453	missense	probably damaging	1.00
R5347:Nbea	UTSW	3	56040876	missense	probably damaging	1.00
R5350:Nbea	UTSW	3	56019424	missense	probably damaging	1.00
R5418:Nbea	UTSW	3	55645989	missense	possibly damaging	0.86
R5586:Nbea	UTSW	3	55631971	missense	probably benign	0.08
R5627:Nbea	UTSW	3	55992345	missense	probably damaging	1.00
R5683:Nbea	UTSW	3	55628586	missense	possibly damaging	0.53
R5765:Nbea	UTSW	3	56005298	missense	probably benign	0.15
R5853:Nbea	UTSW	3	55992401	missense	probably damaging	1.00
R5858:Nbea	UTSW	3	55953034	critical splice donor site	probably null
R5955:Nbea	UTSW	3	55680983	missense	probably benign	0.00
R5976:Nbea	UTSW	3	55853847	missense	probably benign	0.30
R6039:Nbea	UTSW	3	56005117	missense	probably benign	0.00
R6039:Nbea	UTSW	3	56005117	missense	probably benign	0.00
R6043:Nbea	UTSW	3	55786475	missense	probably benign	0.32
R6122:Nbea	UTSW	3	56029896	missense	probably damaging	1.00
R6218:Nbea	UTSW	3	55628484	missense	probably damaging	0.97
R6331:Nbea	UTSW	3	56000616	missense	possibly damaging	0.94
R6334:Nbea	UTSW	3	56037149	missense	probably damaging	1.00
R6393:Nbea	UTSW	3	56091119	missense	probably damaging	1.00
R6411:Nbea	UTSW	3	55805357	missense	probably benign	0.01
R6457:Nbea	UTSW	3	56000569	missense	probably damaging	1.00
R6476:Nbea	UTSW	3	56004806	missense	probably benign	0.00
R6488:Nbea	UTSW	3	55717843	missense	probably damaging	0.99
R6700:Nbea	UTSW	3	56082448	missense	possibly damaging	0.89
R6702:Nbea	UTSW	3	56005502	missense	probably benign	0.06
R6752:Nbea	UTSW	3	55968309	missense	probably benign	0.02
R6752:Nbea	UTSW	3	56037219	missense	probably benign
R6804:Nbea	UTSW	3	56087453	missense	probably benign	0.37
R6901:Nbea	UTSW	3	56019415	missense	probably damaging	1.00
R6933:Nbea	UTSW	3	55723610	missense	possibly damaging	0.63
R7124:Nbea	UTSW	3	55992444	missense	probably damaging	1.00
R7211:Nbea	UTSW	3	56004901	missense	probably benign	0.05
R7308:Nbea	UTSW	3	56091031	missense	probably damaging	1.00
R7405:Nbea	UTSW	3	55805266	missense	possibly damaging	0.94
R7669:Nbea	UTSW	3	55717779	missense	probably damaging	1.00
R7762:Nbea	UTSW	3	55649705	missense	probably damaging	1.00
R7833:Nbea	UTSW	3	56002797	missense	probably damaging	1.00
R7885:Nbea	UTSW	3	55665689	missense	probably damaging	0.97
R7935:Nbea	UTSW	3	56058665	missense	probably damaging	1.00
R8050:Nbea	UTSW	3	55987981	missense	probably damaging	0.99
R8108:Nbea	UTSW	3	55819315	missense	probably benign	0.11
R8290:Nbea	UTSW	3	56058635	nonsense	probably null
R8314:Nbea	UTSW	3	56009251	missense	probably damaging	0.99
R8321:Nbea	UTSW	3	56183097	missense	possibly damaging	0.86
R8376:Nbea	UTSW	3	55643655	missense	possibly damaging	0.79
R8410:Nbea	UTSW	3	56037263	missense	probably damaging	1.00
R8556:Nbea	UTSW	3	55647386	missense	probably benign	0.25
R8753:Nbea	UTSW	3	55626908	missense	probably damaging	1.00
R8844:Nbea	UTSW	3	56090994	missense	probably damaging	0.97
R8884:Nbea	UTSW	3	55805299	missense	probably benign	0.00
R8886:Nbea	UTSW	3	56058727	missense	probably damaging	1.00
R8890:Nbea	UTSW	3	56019363	splice site	probably benign
R9004:Nbea	UTSW	3	56002938	missense	probably benign	0.01
R9022:Nbea	UTSW	3	55643689	missense	possibly damaging	0.79
R9080:Nbea	UTSW	3	56005095	nonsense	probably null
R9087:Nbea	UTSW	3	55642736	critical splice donor site	probably null
R9104:Nbea	UTSW	3	55955388	missense	probably benign
R9165:Nbea	UTSW	3	56004868	missense	probably benign	0.15
R9219:Nbea	UTSW	3	56090972	frame shift	probably null
R9221:Nbea	UTSW	3	56090972	frame shift	probably null
R9222:Nbea	UTSW	3	56090972	frame shift	probably null
R9260:Nbea	UTSW	3	55983812	missense	possibly damaging	0.50
R9263:Nbea	UTSW	3	56090972	frame shift	probably null
R9265:Nbea	UTSW	3	56090972	frame shift	probably null
R9294:Nbea	UTSW	3	56091092	missense	probably benign	0.00
R9360:Nbea	UTSW	3	56035898	missense	possibly damaging	0.96
R9387:Nbea	UTSW	3	55991039	missense	probably benign	0.12
R9428:Nbea	UTSW	3	56090972	frame shift	probably null
R9435:Nbea	UTSW	3	56035888	missense	possibly damaging	0.63
R9507:Nbea	UTSW	3	55665590	missense	probably damaging	1.00
R9514:Nbea	UTSW	3	56029945	missense	probably damaging	1.00
R9516:Nbea	UTSW	3	56029945	missense	probably damaging	1.00
RF051:Nbea	UTSW	3	56009212	critical splice donor site	probably benign
X0018:Nbea	UTSW	3	56036048	missense	probably benign	0.39
Z1088:Nbea	UTSW	3	55723163	missense	probably benign	0.34
Z1177:Nbea	UTSW	3	56031550	missense	probably damaging	1.00

Posted On

2012-12-06