Incidental Mutation 'IGL00541:Nbea'
ID |
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)
|
Stock # |
IGL00541
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
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 |