Mutagenetix > Incidental Mutation

Incidental Mutation 'R6039:Nbea'

486726

Institutional Source

Beutler Lab

Gene Symbol

Nbea

Ensembl Gene

ENSMUSG00000027799

Gene Name

neurobeachin

Synonyms

MMRRC Submission

043259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55532616-56091122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55912538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1083 (E1083G)

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: E1083G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029374
Gene: ENSMUSG00000027799
AA Change: E1083G

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: ENSMUST00000198315

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,885,527 (GRCm39)	R416Q	possibly damaging	Het
Adgre1	C	A	17: 57,713,859 (GRCm39)	D181E	probably benign	Het
Arhgap24	T	C	5: 103,028,652 (GRCm39)	S183P	probably damaging	Het
Asb1	T	C	1: 91,474,748 (GRCm39)	L90P	probably damaging	Het
Bmp3	T	C	5: 99,020,209 (GRCm39)	F211L	probably benign	Het
C8a	A	G	4: 104,703,139 (GRCm39)	I306T	probably benign	Het
Cdkn3	G	A	14: 47,007,373 (GRCm39)	G177R	probably damaging	Het
Chat	A	G	14: 32,170,984 (GRCm39)	S172P	probably damaging	Het
Chd5	CAAGAAGAAGAAGAAGAA	CAAGAAGAAGAAGAA	4: 152,438,078 (GRCm39)		probably benign	Het
Cyp4a12a	T	C	4: 115,184,420 (GRCm39)	I265T	probably damaging	Het
Dlst	T	A	12: 85,165,664 (GRCm39)		probably null	Het
Dnmt1	A	T	9: 20,837,716 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,205,800 (GRCm39)	E1066K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fstl1	T	A	16: 37,641,538 (GRCm39)	S105T	probably benign	Het
Gm19410	C	G	8: 36,276,518 (GRCm39)	A1725G	probably benign	Het
Hspb7	A	G	4: 141,151,215 (GRCm39)	N119S	probably damaging	Het
Il20	T	A	1: 130,838,478 (GRCm39)	D73V	possibly damaging	Het
Insrr	T	C	3: 87,716,608 (GRCm39)	I612T	possibly damaging	Het
Kcnma1	T	C	14: 23,359,105 (GRCm39)	Y1107C	probably benign	Het
Klhl32	A	G	4: 24,792,615 (GRCm39)		probably null	Het
Krt77	C	A	15: 101,769,351 (GRCm39)	R470L	possibly damaging	Het
Muc1	T	C	3: 89,139,336 (GRCm39)	Y579H	probably damaging	Het
Myof	T	C	19: 37,966,132 (GRCm39)	D396G	probably damaging	Het
Myom1	T	G	17: 71,417,746 (GRCm39)	D1316E	probably damaging	Het
Nek9	G	A	12: 85,359,859 (GRCm39)	A531V	probably benign	Het
Nlrp12	A	T	7: 3,290,002 (GRCm39)	I170N	possibly damaging	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Paqr4	T	C	17: 23,958,968 (GRCm39)	D11G	probably damaging	Het
Parp8	A	G	13: 117,014,134 (GRCm39)	S561P	probably damaging	Het
Pcgf5	T	A	19: 36,420,306 (GRCm39)	F179L	probably damaging	Het
Pde4d	A	T	13: 110,084,876 (GRCm39)	Q422L	probably damaging	Het
Pigs	T	A	11: 78,232,651 (GRCm39)	V495E	probably damaging	Het
Polh	C	T	17: 46,498,959 (GRCm39)	R252H	probably benign	Het
Psg28	T	C	7: 18,160,107 (GRCm39)	D363G	possibly damaging	Het
Ptgir	A	T	7: 16,640,815 (GRCm39)	I36F	possibly damaging	Het
Ptprr	G	A	10: 116,072,668 (GRCm39)		probably null	Het
Rax	C	T	18: 66,068,418 (GRCm39)	G229D	unknown	Het
Secisbp2l	T	A	2: 125,615,136 (GRCm39)	H163L	probably benign	Het
Sf3a2	A	G	10: 80,637,297 (GRCm39)	Y45C	probably damaging	Het
Sgo2a	C	T	1: 58,055,775 (GRCm39)	T653I	possibly damaging	Het
Slc38a9	A	T	13: 112,806,231 (GRCm39)	I26F	probably damaging	Het
Slc5a8	A	G	10: 88,722,436 (GRCm39)	I90V	probably benign	Het
Slx4	G	A	16: 3,803,911 (GRCm39)	H968Y	possibly damaging	Het
Stam2	T	C	2: 52,599,611 (GRCm39)	T233A	probably benign	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Trav4-2	G	A	14: 53,655,866 (GRCm39)	V8M	possibly damaging	Het
Ttll5	T	A	12: 85,878,729 (GRCm39)	H45Q	probably damaging	Het
Ttn	C	T	2: 76,714,762 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,051,217 (GRCm39)	F234L	possibly damaging	Het
Vmn2r74	T	A	7: 85,607,526 (GRCm39)		probably null	Het
Wdr6	CTG	C	9: 108,450,994 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,291 (GRCm39)	S997P	possibly damaging	Het
Zfp853	G	A	5: 143,274,529 (GRCm39)	Q364*	probably null	Het

Other mutations in Nbea

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Nbea	APN	3	55,535,914 (GRCm39)	missense	probably damaging	1.00
IGL00541:Nbea	APN	3	55,875,510 (GRCm39)	missense	probably benign	0.02
IGL00584:Nbea	APN	3	55,989,869 (GRCm39)	missense	probably damaging	0.98
IGL00648:Nbea	APN	3	55,916,681 (GRCm39)	missense	probably damaging	0.98
IGL00785:Nbea	APN	3	55,862,814 (GRCm39)	missense	probably benign
IGL00899:Nbea	APN	3	55,550,266 (GRCm39)	missense	probably benign	0.32
IGL00955:Nbea	APN	3	55,912,893 (GRCm39)	missense	possibly damaging	0.45
IGL01296:Nbea	APN	3	55,938,957 (GRCm39)	missense	probably benign	0.04
IGL01299:Nbea	APN	3	55,598,315 (GRCm39)	missense	probably damaging	1.00
IGL01393:Nbea	APN	3	55,912,729 (GRCm39)	missense	probably benign	0.02
IGL01550:Nbea	APN	3	55,712,669 (GRCm39)	missense	possibly damaging	0.93
IGL02023:Nbea	APN	3	55,588,437 (GRCm39)	missense	probably damaging	1.00
IGL02034:Nbea	APN	3	55,875,577 (GRCm39)	missense	probably damaging	1.00
IGL02061:Nbea	APN	3	55,625,308 (GRCm39)	missense	possibly damaging	0.54
IGL02082:Nbea	APN	3	55,875,588 (GRCm39)	missense	possibly damaging	0.88
IGL02113:Nbea	APN	3	55,899,913 (GRCm39)	missense	probably benign
IGL02188:Nbea	APN	3	55,891,258 (GRCm39)	missense	probably benign	0.00
IGL02319:Nbea	APN	3	55,893,159 (GRCm39)	missense	probably damaging	1.00
IGL02406:Nbea	APN	3	55,993,687 (GRCm39)	missense	probably benign	0.02
IGL02494:Nbea	APN	3	55,712,772 (GRCm39)	missense	probably benign	0.02
IGL02550:Nbea	APN	3	55,926,835 (GRCm39)	missense	probably damaging	0.98
IGL02706:Nbea	APN	3	55,944,699 (GRCm39)	missense	probably damaging	1.00
IGL02718:Nbea	APN	3	55,539,483 (GRCm39)	nonsense	probably null
IGL02822:Nbea	APN	3	55,926,868 (GRCm39)	missense	possibly damaging	0.93
IGL02885:Nbea	APN	3	55,539,407 (GRCm39)	missense	probably benign	0.01
IGL03000:Nbea	APN	3	55,912,048 (GRCm39)	missense	possibly damaging	0.94
IGL03081:Nbea	APN	3	55,987,339 (GRCm39)	missense	probably damaging	1.00
IGL03091:Nbea	APN	3	55,992,725 (GRCm39)	missense	probably damaging	1.00
IGL03368:Nbea	APN	3	55,987,351 (GRCm39)	missense	probably damaging	0.98
Neches	UTSW	3	55,860,455 (GRCm39)	critical splice donor site	probably null
scotland	UTSW	3	55,534,329 (GRCm39)	missense	probably damaging	1.00
Wales	UTSW	3	55,998,540 (GRCm39)	missense	probably damaging	1.00
FR4340:Nbea	UTSW	3	55,916,633 (GRCm39)	critical splice donor site	probably benign
G4846:Nbea	UTSW	3	55,994,918 (GRCm39)	missense	probably damaging	0.98
IGL02835:Nbea	UTSW	3	55,625,290 (GRCm39)	missense	possibly damaging	0.88
LCD18:Nbea	UTSW	3	55,608,948 (GRCm39)	intron	probably benign
R0087:Nbea	UTSW	3	55,998,444 (GRCm39)	missense	possibly damaging	0.92
R0220:Nbea	UTSW	3	55,912,724 (GRCm39)	missense	probably benign	0.30
R0324:Nbea	UTSW	3	55,965,369 (GRCm39)	critical splice donor site	probably null
R0330:Nbea	UTSW	3	55,550,238 (GRCm39)	missense	probably benign	0.27
R0391:Nbea	UTSW	3	55,944,698 (GRCm39)	missense	probably damaging	1.00
R0394:Nbea	UTSW	3	55,937,328 (GRCm39)	missense	probably damaging	1.00
R0419:Nbea	UTSW	3	55,726,715 (GRCm39)	missense	probably benign	0.05
R0503:Nbea	UTSW	3	55,550,257 (GRCm39)	missense	possibly damaging	0.79
R0521:Nbea	UTSW	3	55,915,689 (GRCm39)	missense	probably damaging	1.00
R0595:Nbea	UTSW	3	55,535,917 (GRCm39)	missense	probably benign	0.18
R0894:Nbea	UTSW	3	55,916,761 (GRCm39)	missense	possibly damaging	0.89
R1072:Nbea	UTSW	3	55,993,617 (GRCm39)	missense	possibly damaging	0.94
R1125:Nbea	UTSW	3	55,764,427 (GRCm39)	nonsense	probably null
R1169:Nbea	UTSW	3	55,875,744 (GRCm39)	missense	probably benign	0.00
R1241:Nbea	UTSW	3	55,965,461 (GRCm39)	missense	probably damaging	1.00
R1269:Nbea	UTSW	3	55,912,202 (GRCm39)	missense	probably benign	0.05
R1406:Nbea	UTSW	3	55,944,702 (GRCm39)	missense	probably benign	0.00
R1406:Nbea	UTSW	3	55,944,702 (GRCm39)	missense	probably benign	0.00
R1457:Nbea	UTSW	3	55,992,748 (GRCm39)	missense	probably damaging	1.00
R1482:Nbea	UTSW	3	55,987,414 (GRCm39)	missense	probably damaging	1.00
R1483:Nbea	UTSW	3	55,910,211 (GRCm39)	missense	probably benign	0.25
R1502:Nbea	UTSW	3	55,912,310 (GRCm39)	missense	probably benign	0.03
R1544:Nbea	UTSW	3	55,966,248 (GRCm39)	missense	probably damaging	0.99
R1629:Nbea	UTSW	3	55,910,312 (GRCm39)	missense	possibly damaging	0.52
R1647:Nbea	UTSW	3	55,537,650 (GRCm39)	missense	probably damaging	0.97
R1663:Nbea	UTSW	3	55,553,407 (GRCm39)	missense	possibly damaging	0.95
R1722:Nbea	UTSW	3	55,573,116 (GRCm39)	missense	probably damaging	1.00
R1757:Nbea	UTSW	3	55,537,610 (GRCm39)	missense	possibly damaging	0.83
R1771:Nbea	UTSW	3	55,841,940 (GRCm39)	missense	probably benign	0.00
R1796:Nbea	UTSW	3	55,551,129 (GRCm39)	missense	possibly damaging	0.48
R1844:Nbea	UTSW	3	55,989,857 (GRCm39)	missense	probably damaging	0.97
R1872:Nbea	UTSW	3	55,550,310 (GRCm39)	missense	probably benign	0.12
R1938:Nbea	UTSW	3	55,992,743 (GRCm39)	missense	probably damaging	1.00
R1940:Nbea	UTSW	3	55,860,521 (GRCm39)	missense	possibly damaging	0.78
R2062:Nbea	UTSW	3	55,993,578 (GRCm39)	splice site	probably benign
R2066:Nbea	UTSW	3	55,875,567 (GRCm39)	missense	probably damaging	1.00
R2097:Nbea	UTSW	3	55,630,638 (GRCm39)	missense	probably damaging	0.96
R2181:Nbea	UTSW	3	55,937,360 (GRCm39)	missense	possibly damaging	0.92
R2274:Nbea	UTSW	3	55,895,506 (GRCm39)	splice site	probably null
R2345:Nbea	UTSW	3	55,992,700 (GRCm39)	missense	probably damaging	1.00
R2423:Nbea	UTSW	3	55,992,727 (GRCm39)	missense	probably damaging	1.00
R2434:Nbea	UTSW	3	55,554,881 (GRCm39)	missense	possibly damaging	0.91
R2880:Nbea	UTSW	3	55,554,779 (GRCm39)	missense	probably benign	0.04
R2881:Nbea	UTSW	3	55,554,779 (GRCm39)	missense	probably benign	0.04
R2940:Nbea	UTSW	3	55,842,045 (GRCm39)	missense	probably benign	0.24
R3500:Nbea	UTSW	3	55,588,431 (GRCm39)	missense	possibly damaging	0.88
R3765:Nbea	UTSW	3	55,912,970 (GRCm39)	missense	probably damaging	1.00
R3790:Nbea	UTSW	3	55,912,450 (GRCm39)	missense	probably benign
R3808:Nbea	UTSW	3	55,625,269 (GRCm39)	missense	probably benign	0.02
R3845:Nbea	UTSW	3	55,993,713 (GRCm39)	splice site	probably benign
R4182:Nbea	UTSW	3	55,915,848 (GRCm39)	missense	probably damaging	0.99
R4385:Nbea	UTSW	3	55,908,059 (GRCm39)	missense	possibly damaging	0.77
R4419:Nbea	UTSW	3	55,917,021 (GRCm39)	missense	probably damaging	1.00
R4426:Nbea	UTSW	3	55,989,800 (GRCm39)	missense	probably damaging	0.98
R4451:Nbea	UTSW	3	55,899,753 (GRCm39)	critical splice donor site	probably null
R4456:Nbea	UTSW	3	55,551,205 (GRCm39)	missense	probably benign	0.00
R4604:Nbea	UTSW	3	55,631,069 (GRCm39)	missense	probably benign	0.18
R4687:Nbea	UTSW	3	55,965,486 (GRCm39)	missense	probably damaging	1.00
R4758:Nbea	UTSW	3	55,912,824 (GRCm39)	missense	probably benign
R4840:Nbea	UTSW	3	55,618,091 (GRCm39)	missense	probably benign	0.37
R4888:Nbea	UTSW	3	55,912,776 (GRCm39)	missense	possibly damaging	0.61
R4954:Nbea	UTSW	3	55,943,379 (GRCm39)	missense	probably damaging	1.00
R4972:Nbea	UTSW	3	55,992,667 (GRCm39)	missense	probably damaging	0.99
R4980:Nbea	UTSW	3	55,860,466 (GRCm39)	missense	probably benign	0.00
R4980:Nbea	UTSW	3	55,554,772 (GRCm39)	splice site	probably null
R5104:Nbea	UTSW	3	55,987,348 (GRCm39)	missense	probably damaging	1.00
R5139:Nbea	UTSW	3	55,534,384 (GRCm39)	missense	possibly damaging	0.90
R5166:Nbea	UTSW	3	55,926,874 (GRCm39)	missense	probably damaging	1.00
R5347:Nbea	UTSW	3	55,948,297 (GRCm39)	missense	probably damaging	1.00
R5350:Nbea	UTSW	3	55,926,845 (GRCm39)	missense	probably damaging	1.00
R5418:Nbea	UTSW	3	55,553,410 (GRCm39)	missense	possibly damaging	0.86
R5586:Nbea	UTSW	3	55,539,392 (GRCm39)	missense	probably benign	0.08
R5627:Nbea	UTSW	3	55,899,766 (GRCm39)	missense	probably damaging	1.00
R5683:Nbea	UTSW	3	55,536,007 (GRCm39)	missense	possibly damaging	0.53
R5765:Nbea	UTSW	3	55,912,719 (GRCm39)	missense	probably benign	0.15
R5853:Nbea	UTSW	3	55,899,822 (GRCm39)	missense	probably damaging	1.00
R5858:Nbea	UTSW	3	55,860,455 (GRCm39)	critical splice donor site	probably null
R5955:Nbea	UTSW	3	55,588,404 (GRCm39)	missense	probably benign	0.00
R5976:Nbea	UTSW	3	55,761,268 (GRCm39)	missense	probably benign	0.30
R6039:Nbea	UTSW	3	55,912,538 (GRCm39)	missense	probably benign	0.00
R6043:Nbea	UTSW	3	55,693,896 (GRCm39)	missense	probably benign	0.32
R6122:Nbea	UTSW	3	55,937,317 (GRCm39)	missense	probably damaging	1.00
R6218:Nbea	UTSW	3	55,535,905 (GRCm39)	missense	probably damaging	0.97
R6331:Nbea	UTSW	3	55,908,037 (GRCm39)	missense	possibly damaging	0.94
R6334:Nbea	UTSW	3	55,944,570 (GRCm39)	missense	probably damaging	1.00
R6393:Nbea	UTSW	3	55,998,540 (GRCm39)	missense	probably damaging	1.00
R6411:Nbea	UTSW	3	55,712,778 (GRCm39)	missense	probably benign	0.01
R6457:Nbea	UTSW	3	55,907,990 (GRCm39)	missense	probably damaging	1.00
R6476:Nbea	UTSW	3	55,912,227 (GRCm39)	missense	probably benign	0.00
R6488:Nbea	UTSW	3	55,625,264 (GRCm39)	missense	probably damaging	0.99
R6700:Nbea	UTSW	3	55,989,869 (GRCm39)	missense	possibly damaging	0.89
R6702:Nbea	UTSW	3	55,912,923 (GRCm39)	missense	probably benign	0.06
R6752:Nbea	UTSW	3	55,944,640 (GRCm39)	missense	probably benign
R6752:Nbea	UTSW	3	55,875,730 (GRCm39)	missense	probably benign	0.02
R6804:Nbea	UTSW	3	55,994,874 (GRCm39)	missense	probably benign	0.37
R6901:Nbea	UTSW	3	55,926,836 (GRCm39)	missense	probably damaging	1.00
R6933:Nbea	UTSW	3	55,631,031 (GRCm39)	missense	possibly damaging	0.63
R7124:Nbea	UTSW	3	55,899,865 (GRCm39)	missense	probably damaging	1.00
R7211:Nbea	UTSW	3	55,912,322 (GRCm39)	missense	probably benign	0.05
R7308:Nbea	UTSW	3	55,998,452 (GRCm39)	missense	probably damaging	1.00
R7405:Nbea	UTSW	3	55,712,687 (GRCm39)	missense	possibly damaging	0.94
R7669:Nbea	UTSW	3	55,625,200 (GRCm39)	missense	probably damaging	1.00
R7762:Nbea	UTSW	3	55,557,126 (GRCm39)	missense	probably damaging	1.00
R7833:Nbea	UTSW	3	55,910,218 (GRCm39)	missense	probably damaging	1.00
R7885:Nbea	UTSW	3	55,573,110 (GRCm39)	missense	probably damaging	0.97
R7935:Nbea	UTSW	3	55,966,086 (GRCm39)	missense	probably damaging	1.00
R8050:Nbea	UTSW	3	55,895,402 (GRCm39)	missense	probably damaging	0.99
R8108:Nbea	UTSW	3	55,726,736 (GRCm39)	missense	probably benign	0.11
R8290:Nbea	UTSW	3	55,966,056 (GRCm39)	nonsense	probably null
R8314:Nbea	UTSW	3	55,916,672 (GRCm39)	missense	probably damaging	0.99
R8321:Nbea	UTSW	3	56,090,518 (GRCm39)	missense	possibly damaging	0.86
R8376:Nbea	UTSW	3	55,551,076 (GRCm39)	missense	possibly damaging	0.79
R8410:Nbea	UTSW	3	55,944,684 (GRCm39)	missense	probably damaging	1.00
R8556:Nbea	UTSW	3	55,554,807 (GRCm39)	missense	probably benign	0.25
R8753:Nbea	UTSW	3	55,534,329 (GRCm39)	missense	probably damaging	1.00
R8844:Nbea	UTSW	3	55,998,415 (GRCm39)	missense	probably damaging	0.97
R8884:Nbea	UTSW	3	55,712,720 (GRCm39)	missense	probably benign	0.00
R8886:Nbea	UTSW	3	55,966,148 (GRCm39)	missense	probably damaging	1.00
R8890:Nbea	UTSW	3	55,926,784 (GRCm39)	splice site	probably benign
R9004:Nbea	UTSW	3	55,910,359 (GRCm39)	missense	probably benign	0.01
R9022:Nbea	UTSW	3	55,551,110 (GRCm39)	missense	possibly damaging	0.79
R9080:Nbea	UTSW	3	55,912,516 (GRCm39)	nonsense	probably null
R9087:Nbea	UTSW	3	55,550,157 (GRCm39)	critical splice donor site	probably null
R9104:Nbea	UTSW	3	55,862,809 (GRCm39)	missense	probably benign
R9165:Nbea	UTSW	3	55,912,289 (GRCm39)	missense	probably benign	0.15
R9219:Nbea	UTSW	3	55,998,393 (GRCm39)	frame shift	probably null
R9221:Nbea	UTSW	3	55,998,393 (GRCm39)	frame shift	probably null
R9222:Nbea	UTSW	3	55,998,393 (GRCm39)	frame shift	probably null
R9260:Nbea	UTSW	3	55,891,233 (GRCm39)	missense	possibly damaging	0.50
R9263:Nbea	UTSW	3	55,998,393 (GRCm39)	frame shift	probably null
R9265:Nbea	UTSW	3	55,998,393 (GRCm39)	frame shift	probably null
R9294:Nbea	UTSW	3	55,998,513 (GRCm39)	missense	probably benign	0.00
R9360:Nbea	UTSW	3	55,943,319 (GRCm39)	missense	possibly damaging	0.96
R9387:Nbea	UTSW	3	55,898,460 (GRCm39)	missense	probably benign	0.12
R9428:Nbea	UTSW	3	55,998,393 (GRCm39)	frame shift	probably null
R9435:Nbea	UTSW	3	55,943,309 (GRCm39)	missense	possibly damaging	0.63
R9507:Nbea	UTSW	3	55,573,011 (GRCm39)	missense	probably damaging	1.00
R9514:Nbea	UTSW	3	55,937,366 (GRCm39)	missense	probably damaging	1.00
R9516:Nbea	UTSW	3	55,937,366 (GRCm39)	missense	probably damaging	1.00
R9674:Nbea	UTSW	3	55,966,183 (GRCm39)	missense	probably damaging	1.00
R9688:Nbea	UTSW	3	55,557,165 (GRCm39)	missense	probably benign	0.42
R9709:Nbea	UTSW	3	55,693,879 (GRCm39)	nonsense	probably null
RF051:Nbea	UTSW	3	55,916,633 (GRCm39)	critical splice donor site	probably benign
X0018:Nbea	UTSW	3	55,943,469 (GRCm39)	missense	probably benign	0.39
Z1088:Nbea	UTSW	3	55,630,584 (GRCm39)	missense	probably benign	0.34
Z1177:Nbea	UTSW	3	55,938,971 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGTAATTTCTCTTCCTGTCTGGG -3'
(R):5'- ACGAGACTTGCTCATGTCAAC -3'

Sequencing Primer
(F):5'- CCTGTCTGGGTATTTTATCAAAGAG -3'
(R):5'- GCTCATGTCAACCAAAGTATCAGATG -3'

Posted On

2017-08-16