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

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 (GRCm38)		probably null	Het
Col6a3	T	C	1: 90,802,142 (GRCm38)	H1207R	possibly damaging	Het
Efl1	T	C	7: 82,658,111 (GRCm38)	S72P	probably damaging	Het
Fbxw9	A	T	8: 85,066,590 (GRCm38)	I435F	probably damaging	Het
Gm14548	T	A	7: 3,897,386 (GRCm38)		probably benign	Het
Gm9837	G	A	11: 53,470,252 (GRCm38)		probably benign	Het
Lama2	C	A	10: 27,188,306 (GRCm38)	L1226F	probably benign	Het
Slco1a6	G	T	6: 142,096,299 (GRCm38)	T517K	possibly damaging	Het
Sult2a2	T	C	7: 13,734,759 (GRCm38)	L50P	probably damaging	Het
Syt9	A	T	7: 107,502,180 (GRCm38)	N378Y	probably null	Het
Tchh	A	G	3: 93,446,250 (GRCm38)	E999G	unknown	Het
Usp9x	A	G	X: 13,141,746 (GRCm38)	T1425A	probably benign	Het

Other mutations in Nbea

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Nbea	APN	3	55,628,493 (GRCm38)	missense	probably damaging	1.00
IGL00584:Nbea	APN	3	56,082,448 (GRCm38)	missense	probably damaging	0.98
IGL00648:Nbea	APN	3	56,009,260 (GRCm38)	missense	probably damaging	0.98
IGL00785:Nbea	APN	3	55,955,393 (GRCm38)	missense	probably benign
IGL00899:Nbea	APN	3	55,642,845 (GRCm38)	missense	probably benign	0.32
IGL00955:Nbea	APN	3	56,005,472 (GRCm38)	missense	possibly damaging	0.45
IGL01296:Nbea	APN	3	56,031,536 (GRCm38)	missense	probably benign	0.04
IGL01299:Nbea	APN	3	55,690,894 (GRCm38)	missense	probably damaging	1.00
IGL01393:Nbea	APN	3	56,005,308 (GRCm38)	missense	probably benign	0.02
IGL01550:Nbea	APN	3	55,805,248 (GRCm38)	missense	possibly damaging	0.93
IGL02023:Nbea	APN	3	55,681,016 (GRCm38)	missense	probably damaging	1.00
IGL02034:Nbea	APN	3	55,968,156 (GRCm38)	missense	probably damaging	1.00
IGL02061:Nbea	APN	3	55,717,887 (GRCm38)	missense	possibly damaging	0.54
IGL02082:Nbea	APN	3	55,968,167 (GRCm38)	missense	possibly damaging	0.88
IGL02113:Nbea	APN	3	55,992,492 (GRCm38)	missense	probably benign
IGL02188:Nbea	APN	3	55,983,837 (GRCm38)	missense	probably benign	0.00
IGL02319:Nbea	APN	3	55,985,738 (GRCm38)	missense	probably damaging	1.00
IGL02406:Nbea	APN	3	56,086,266 (GRCm38)	missense	probably benign	0.02
IGL02494:Nbea	APN	3	55,805,351 (GRCm38)	missense	probably benign	0.02
IGL02550:Nbea	APN	3	56,019,414 (GRCm38)	missense	probably damaging	0.98
IGL02706:Nbea	APN	3	56,037,278 (GRCm38)	missense	probably damaging	1.00
IGL02718:Nbea	APN	3	55,632,062 (GRCm38)	nonsense	probably null
IGL02822:Nbea	APN	3	56,019,447 (GRCm38)	missense	possibly damaging	0.93
IGL02885:Nbea	APN	3	55,631,986 (GRCm38)	missense	probably benign	0.01
IGL03000:Nbea	APN	3	56,004,627 (GRCm38)	missense	possibly damaging	0.94
IGL03081:Nbea	APN	3	56,079,918 (GRCm38)	missense	probably damaging	1.00
IGL03091:Nbea	APN	3	56,085,304 (GRCm38)	missense	probably damaging	1.00
IGL03368:Nbea	APN	3	56,079,930 (GRCm38)	missense	probably damaging	0.98
Neches	UTSW	3	55,953,034 (GRCm38)	critical splice donor site	probably null
scotland	UTSW	3	55,626,908 (GRCm38)	missense	probably damaging	1.00
Wales	UTSW	3	56,091,119 (GRCm38)	missense	probably damaging	1.00
FR4340:Nbea	UTSW	3	56,009,212 (GRCm38)	critical splice donor site	probably benign
G4846:Nbea	UTSW	3	56,087,497 (GRCm38)	missense	probably damaging	0.98
IGL02835:Nbea	UTSW	3	55,717,869 (GRCm38)	missense	possibly damaging	0.88
LCD18:Nbea	UTSW	3	55,701,527 (GRCm38)	intron	probably benign
R0087:Nbea	UTSW	3	56,091,023 (GRCm38)	missense	possibly damaging	0.92
R0220:Nbea	UTSW	3	56,005,303 (GRCm38)	missense	probably benign	0.30
R0324:Nbea	UTSW	3	56,057,948 (GRCm38)	critical splice donor site	probably null
R0330:Nbea	UTSW	3	55,642,817 (GRCm38)	missense	probably benign	0.27
R0391:Nbea	UTSW	3	56,037,277 (GRCm38)	missense	probably damaging	1.00
R0394:Nbea	UTSW	3	56,029,907 (GRCm38)	missense	probably damaging	1.00
R0419:Nbea	UTSW	3	55,819,294 (GRCm38)	missense	probably benign	0.05
R0503:Nbea	UTSW	3	55,642,836 (GRCm38)	missense	possibly damaging	0.79
R0521:Nbea	UTSW	3	56,008,268 (GRCm38)	missense	probably damaging	1.00
R0595:Nbea	UTSW	3	55,628,496 (GRCm38)	missense	probably benign	0.18
R0894:Nbea	UTSW	3	56,009,340 (GRCm38)	missense	possibly damaging	0.89
R1072:Nbea	UTSW	3	56,086,196 (GRCm38)	missense	possibly damaging	0.94
R1125:Nbea	UTSW	3	55,857,006 (GRCm38)	nonsense	probably null
R1169:Nbea	UTSW	3	55,968,323 (GRCm38)	missense	probably benign	0.00
R1241:Nbea	UTSW	3	56,058,040 (GRCm38)	missense	probably damaging	1.00
R1269:Nbea	UTSW	3	56,004,781 (GRCm38)	missense	probably benign	0.05
R1406:Nbea	UTSW	3	56,037,281 (GRCm38)	missense	probably benign	0.00
R1406:Nbea	UTSW	3	56,037,281 (GRCm38)	missense	probably benign	0.00
R1457:Nbea	UTSW	3	56,085,327 (GRCm38)	missense	probably damaging	1.00
R1482:Nbea	UTSW	3	56,079,993 (GRCm38)	missense	probably damaging	1.00
R1483:Nbea	UTSW	3	56,002,790 (GRCm38)	missense	probably benign	0.25
R1502:Nbea	UTSW	3	56,004,889 (GRCm38)	missense	probably benign	0.03
R1544:Nbea	UTSW	3	56,058,827 (GRCm38)	missense	probably damaging	0.99
R1629:Nbea	UTSW	3	56,002,891 (GRCm38)	missense	possibly damaging	0.52
R1647:Nbea	UTSW	3	55,630,229 (GRCm38)	missense	probably damaging	0.97
R1663:Nbea	UTSW	3	55,645,986 (GRCm38)	missense	possibly damaging	0.95
R1722:Nbea	UTSW	3	55,665,695 (GRCm38)	missense	probably damaging	1.00
R1757:Nbea	UTSW	3	55,630,189 (GRCm38)	missense	possibly damaging	0.83
R1771:Nbea	UTSW	3	55,934,519 (GRCm38)	missense	probably benign	0.00
R1796:Nbea	UTSW	3	55,643,708 (GRCm38)	missense	possibly damaging	0.48
R1844:Nbea	UTSW	3	56,082,436 (GRCm38)	missense	probably damaging	0.97
R1872:Nbea	UTSW	3	55,642,889 (GRCm38)	missense	probably benign	0.12
R1938:Nbea	UTSW	3	56,085,322 (GRCm38)	missense	probably damaging	1.00
R1940:Nbea	UTSW	3	55,953,100 (GRCm38)	missense	possibly damaging	0.78
R2062:Nbea	UTSW	3	56,086,157 (GRCm38)	splice site	probably benign
R2066:Nbea	UTSW	3	55,968,146 (GRCm38)	missense	probably damaging	1.00
R2097:Nbea	UTSW	3	55,723,217 (GRCm38)	missense	probably damaging	0.96
R2181:Nbea	UTSW	3	56,029,939 (GRCm38)	missense	possibly damaging	0.92
R2274:Nbea	UTSW	3	55,988,085 (GRCm38)	splice site	probably null
R2345:Nbea	UTSW	3	56,085,279 (GRCm38)	missense	probably damaging	1.00
R2423:Nbea	UTSW	3	56,085,306 (GRCm38)	missense	probably damaging	1.00
R2434:Nbea	UTSW	3	55,647,460 (GRCm38)	missense	possibly damaging	0.91
R2880:Nbea	UTSW	3	55,647,358 (GRCm38)	missense	probably benign	0.04
R2881:Nbea	UTSW	3	55,647,358 (GRCm38)	missense	probably benign	0.04
R2940:Nbea	UTSW	3	55,934,624 (GRCm38)	missense	probably benign	0.24
R3500:Nbea	UTSW	3	55,681,010 (GRCm38)	missense	possibly damaging	0.88
R3765:Nbea	UTSW	3	56,005,549 (GRCm38)	missense	probably damaging	1.00
R3790:Nbea	UTSW	3	56,005,029 (GRCm38)	missense	probably benign
R3808:Nbea	UTSW	3	55,717,848 (GRCm38)	missense	probably benign	0.02
R3845:Nbea	UTSW	3	56,086,292 (GRCm38)	splice site	probably benign
R4182:Nbea	UTSW	3	56,008,427 (GRCm38)	missense	probably damaging	0.99
R4385:Nbea	UTSW	3	56,000,638 (GRCm38)	missense	possibly damaging	0.77
R4419:Nbea	UTSW	3	56,009,600 (GRCm38)	missense	probably damaging	1.00
R4426:Nbea	UTSW	3	56,082,379 (GRCm38)	missense	probably damaging	0.98
R4451:Nbea	UTSW	3	55,992,332 (GRCm38)	critical splice donor site	probably null
R4456:Nbea	UTSW	3	55,643,784 (GRCm38)	missense	probably benign	0.00
R4604:Nbea	UTSW	3	55,723,648 (GRCm38)	missense	probably benign	0.18
R4687:Nbea	UTSW	3	56,058,065 (GRCm38)	missense	probably damaging	1.00
R4758:Nbea	UTSW	3	56,005,403 (GRCm38)	missense	probably benign
R4840:Nbea	UTSW	3	55,710,670 (GRCm38)	missense	probably benign	0.37
R4888:Nbea	UTSW	3	56,005,355 (GRCm38)	missense	possibly damaging	0.61
R4954:Nbea	UTSW	3	56,035,958 (GRCm38)	missense	probably damaging	1.00
R4972:Nbea	UTSW	3	56,085,246 (GRCm38)	missense	probably damaging	0.99
R4980:Nbea	UTSW	3	55,953,045 (GRCm38)	missense	probably benign	0.00
R4980:Nbea	UTSW	3	55,647,351 (GRCm38)	splice site	probably null
R5104:Nbea	UTSW	3	56,079,927 (GRCm38)	missense	probably damaging	1.00
R5139:Nbea	UTSW	3	55,626,963 (GRCm38)	missense	possibly damaging	0.90
R5166:Nbea	UTSW	3	56,019,453 (GRCm38)	missense	probably damaging	1.00
R5347:Nbea	UTSW	3	56,040,876 (GRCm38)	missense	probably damaging	1.00
R5350:Nbea	UTSW	3	56,019,424 (GRCm38)	missense	probably damaging	1.00
R5418:Nbea	UTSW	3	55,645,989 (GRCm38)	missense	possibly damaging	0.86
R5586:Nbea	UTSW	3	55,631,971 (GRCm38)	missense	probably benign	0.08
R5627:Nbea	UTSW	3	55,992,345 (GRCm38)	missense	probably damaging	1.00
R5683:Nbea	UTSW	3	55,628,586 (GRCm38)	missense	possibly damaging	0.53
R5765:Nbea	UTSW	3	56,005,298 (GRCm38)	missense	probably benign	0.15
R5853:Nbea	UTSW	3	55,992,401 (GRCm38)	missense	probably damaging	1.00
R5858:Nbea	UTSW	3	55,953,034 (GRCm38)	critical splice donor site	probably null
R5955:Nbea	UTSW	3	55,680,983 (GRCm38)	missense	probably benign	0.00
R5976:Nbea	UTSW	3	55,853,847 (GRCm38)	missense	probably benign	0.30
R6039:Nbea	UTSW	3	56,005,117 (GRCm38)	missense	probably benign	0.00
R6039:Nbea	UTSW	3	56,005,117 (GRCm38)	missense	probably benign	0.00
R6043:Nbea	UTSW	3	55,786,475 (GRCm38)	missense	probably benign	0.32
R6122:Nbea	UTSW	3	56,029,896 (GRCm38)	missense	probably damaging	1.00
R6218:Nbea	UTSW	3	55,628,484 (GRCm38)	missense	probably damaging	0.97
R6331:Nbea	UTSW	3	56,000,616 (GRCm38)	missense	possibly damaging	0.94
R6334:Nbea	UTSW	3	56,037,149 (GRCm38)	missense	probably damaging	1.00
R6393:Nbea	UTSW	3	56,091,119 (GRCm38)	missense	probably damaging	1.00
R6411:Nbea	UTSW	3	55,805,357 (GRCm38)	missense	probably benign	0.01
R6457:Nbea	UTSW	3	56,000,569 (GRCm38)	missense	probably damaging	1.00
R6476:Nbea	UTSW	3	56,004,806 (GRCm38)	missense	probably benign	0.00
R6488:Nbea	UTSW	3	55,717,843 (GRCm38)	missense	probably damaging	0.99
R6700:Nbea	UTSW	3	56,082,448 (GRCm38)	missense	possibly damaging	0.89
R6702:Nbea	UTSW	3	56,005,502 (GRCm38)	missense	probably benign	0.06
R6752:Nbea	UTSW	3	56,037,219 (GRCm38)	missense	probably benign
R6752:Nbea	UTSW	3	55,968,309 (GRCm38)	missense	probably benign	0.02
R6804:Nbea	UTSW	3	56,087,453 (GRCm38)	missense	probably benign	0.37
R6901:Nbea	UTSW	3	56,019,415 (GRCm38)	missense	probably damaging	1.00
R6933:Nbea	UTSW	3	55,723,610 (GRCm38)	missense	possibly damaging	0.63
R7124:Nbea	UTSW	3	55,992,444 (GRCm38)	missense	probably damaging	1.00
R7211:Nbea	UTSW	3	56,004,901 (GRCm38)	missense	probably benign	0.05
R7308:Nbea	UTSW	3	56,091,031 (GRCm38)	missense	probably damaging	1.00
R7405:Nbea	UTSW	3	55,805,266 (GRCm38)	missense	possibly damaging	0.94
R7669:Nbea	UTSW	3	55,717,779 (GRCm38)	missense	probably damaging	1.00
R7762:Nbea	UTSW	3	55,649,705 (GRCm38)	missense	probably damaging	1.00
R7833:Nbea	UTSW	3	56,002,797 (GRCm38)	missense	probably damaging	1.00
R7885:Nbea	UTSW	3	55,665,689 (GRCm38)	missense	probably damaging	0.97
R7935:Nbea	UTSW	3	56,058,665 (GRCm38)	missense	probably damaging	1.00
R8050:Nbea	UTSW	3	55,987,981 (GRCm38)	missense	probably damaging	0.99
R8108:Nbea	UTSW	3	55,819,315 (GRCm38)	missense	probably benign	0.11
R8290:Nbea	UTSW	3	56,058,635 (GRCm38)	nonsense	probably null
R8314:Nbea	UTSW	3	56,009,251 (GRCm38)	missense	probably damaging	0.99
R8321:Nbea	UTSW	3	56,183,097 (GRCm38)	missense	possibly damaging	0.86
R8376:Nbea	UTSW	3	55,643,655 (GRCm38)	missense	possibly damaging	0.79
R8410:Nbea	UTSW	3	56,037,263 (GRCm38)	missense	probably damaging	1.00
R8556:Nbea	UTSW	3	55,647,386 (GRCm38)	missense	probably benign	0.25
R8753:Nbea	UTSW	3	55,626,908 (GRCm38)	missense	probably damaging	1.00
R8844:Nbea	UTSW	3	56,090,994 (GRCm38)	missense	probably damaging	0.97
R8884:Nbea	UTSW	3	55,805,299 (GRCm38)	missense	probably benign	0.00
R8886:Nbea	UTSW	3	56,058,727 (GRCm38)	missense	probably damaging	1.00
R8890:Nbea	UTSW	3	56,019,363 (GRCm38)	splice site	probably benign
R9004:Nbea	UTSW	3	56,002,938 (GRCm38)	missense	probably benign	0.01
R9022:Nbea	UTSW	3	55,643,689 (GRCm38)	missense	possibly damaging	0.79
R9080:Nbea	UTSW	3	56,005,095 (GRCm38)	nonsense	probably null
R9087:Nbea	UTSW	3	55,642,736 (GRCm38)	critical splice donor site	probably null
R9104:Nbea	UTSW	3	55,955,388 (GRCm38)	missense	probably benign
R9165:Nbea	UTSW	3	56,004,868 (GRCm38)	missense	probably benign	0.15
R9219:Nbea	UTSW	3	56,090,972 (GRCm38)	frame shift	probably null
R9221:Nbea	UTSW	3	56,090,972 (GRCm38)	frame shift	probably null
R9222:Nbea	UTSW	3	56,090,972 (GRCm38)	frame shift	probably null
R9260:Nbea	UTSW	3	55,983,812 (GRCm38)	missense	possibly damaging	0.50
R9263:Nbea	UTSW	3	56,090,972 (GRCm38)	frame shift	probably null
R9265:Nbea	UTSW	3	56,090,972 (GRCm38)	frame shift	probably null
R9294:Nbea	UTSW	3	56,091,092 (GRCm38)	missense	probably benign	0.00
R9360:Nbea	UTSW	3	56,035,898 (GRCm38)	missense	possibly damaging	0.96
R9387:Nbea	UTSW	3	55,991,039 (GRCm38)	missense	probably benign	0.12
R9428:Nbea	UTSW	3	56,090,972 (GRCm38)	frame shift	probably null
R9435:Nbea	UTSW	3	56,035,888 (GRCm38)	missense	possibly damaging	0.63
R9507:Nbea	UTSW	3	55,665,590 (GRCm38)	missense	probably damaging	1.00
R9514:Nbea	UTSW	3	56,029,945 (GRCm38)	missense	probably damaging	1.00
R9516:Nbea	UTSW	3	56,029,945 (GRCm38)	missense	probably damaging	1.00
R9674:Nbea	UTSW	3	56,058,762 (GRCm38)	missense	probably damaging	1.00
R9688:Nbea	UTSW	3	55,649,744 (GRCm38)	missense	probably benign	0.42
R9709:Nbea	UTSW	3	55,786,458 (GRCm38)	nonsense	probably null
RF051:Nbea	UTSW	3	56,009,212 (GRCm38)	critical splice donor site	probably benign
X0018:Nbea	UTSW	3	56,036,048 (GRCm38)	missense	probably benign	0.39
Z1088:Nbea	UTSW	3	55,723,163 (GRCm38)	missense	probably benign	0.34
Z1177:Nbea	UTSW	3	56,031,550 (GRCm38)	missense	probably damaging	1.00

Posted On

2012-12-06