Incidental Mutation 'R1457:Nbea'
ID 158547
Institutional Source Beutler Lab
Gene Symbol Nbea
Ensembl Gene ENSMUSG00000027799
Gene Name neurobeachin
Synonyms
MMRRC Submission 039512-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1457 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 55625195-56183701 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56085327 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 286 (V286A)
Ref Sequence ENSEMBL: ENSMUSP00000029374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029374]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029374
AA Change: V286A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029374
Gene: ENSMUSG00000027799
AA Change: V286A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.3%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A T 1: 37,626,012 (GRCm38) Y268* probably null Het
Abca14 A T 7: 120,289,460 (GRCm38) I1210F probably benign Het
Ankrd17 T C 5: 90,285,846 (GRCm38) H688R possibly damaging Het
Arhgap24 T A 5: 102,664,106 (GRCm38) N66K probably damaging Het
Atp1a1 C T 3: 101,590,466 (GRCm38) G335D probably damaging Het
Cacna1g C T 11: 94,459,555 (GRCm38) R488H possibly damaging Het
Cacna1h A T 17: 25,397,620 (GRCm38) V149E probably damaging Het
Cd22 G T 7: 30,873,170 (GRCm38) P338Q probably benign Het
Cntln G T 4: 85,096,839 (GRCm38) M1122I probably benign Het
Cntrl A G 2: 35,122,756 (GRCm38) N302S probably benign Het
Cog8 T C 8: 107,052,896 (GRCm38) R250G probably damaging Het
Creld2 T C 15: 88,823,753 (GRCm38) C232R probably damaging Het
Cyp2b23 G A 7: 26,673,149 (GRCm38) P347L probably damaging Het
Dnah5 T C 15: 28,403,542 (GRCm38) probably null Het
Eml6 C T 11: 30,024,459 (GRCm38) V40I probably damaging Het
Epb42 C T 2: 121,029,967 (GRCm38) probably null Het
Fcrla A G 1: 170,921,004 (GRCm38) L190P probably damaging Het
Galnt18 A T 7: 111,779,428 (GRCm38) Y40* probably null Het
Gdf7 A T 12: 8,298,073 (GRCm38) M416K probably damaging Het
Gm11232 T A 4: 71,756,919 (GRCm38) probably null Het
Gpam T A 19: 55,088,176 (GRCm38) N198Y probably damaging Het
Grip1 C T 10: 119,986,350 (GRCm38) S327F possibly damaging Het
Hey2 C T 10: 30,834,356 (GRCm38) A134T probably benign Het
Kat6a T C 8: 22,938,652 (GRCm38) I1341T probably benign Het
Kcnd3 T C 3: 105,668,186 (GRCm38) L542P probably benign Het
Lars G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lman2 T C 13: 55,351,251 (GRCm38) D234G probably benign Het
Map3k19 A C 1: 127,817,898 (GRCm38) I1273R probably damaging Het
Matn1 T A 4: 130,950,019 (GRCm38) F180I possibly damaging Het
Meikin T A 11: 54,370,941 (GRCm38) L61* probably null Het
Mroh2b G T 15: 4,925,684 (GRCm38) D720Y probably damaging Het
Myh13 T C 11: 67,331,046 (GRCm38) I199T probably damaging Het
Myh4 T A 11: 67,248,461 (GRCm38) S535T probably damaging Het
Myo5a T C 9: 75,213,065 (GRCm38) M1715T probably damaging Het
Nat8 A T 6: 85,830,989 (GRCm38) V54D probably damaging Het
Ndnf A G 6: 65,704,014 (GRCm38) K426E possibly damaging Het
Nup210l T A 3: 90,190,972 (GRCm38) N1410K possibly damaging Het
Oca2 A T 7: 56,321,521 (GRCm38) T399S probably damaging Het
Olfr1045 A G 2: 86,198,252 (GRCm38) S167P probably damaging Het
Olfr118 A T 17: 37,672,925 (GRCm38) K301* probably null Het
Olfr250 G A 9: 38,368,196 (GRCm38) V217I probably benign Het
Olfr366 A C 2: 37,219,659 (GRCm38) T57P possibly damaging Het
Olfr644 A T 7: 104,068,459 (GRCm38) C191S probably damaging Het
Olfr652 T A 7: 104,565,071 (GRCm38) N283K probably damaging Het
Otogl A C 10: 107,878,152 (GRCm38) probably null Het
Pde4b C T 4: 102,605,176 (GRCm38) T511I probably damaging Het
Proser3 A G 7: 30,539,747 (GRCm38) probably null Het
Psmd12 G A 11: 107,479,646 (GRCm38) V24M probably damaging Het
Rbm17 A T 2: 11,593,461 (GRCm38) M170K probably benign Het
Rims2 C T 15: 39,511,314 (GRCm38) T1064I possibly damaging Het
Ripor3 C T 2: 167,992,653 (GRCm38) V281M probably damaging Het
Rreb1 C A 13: 37,946,928 (GRCm38) Q1353K possibly damaging Het
Sgo2a A G 1: 58,015,806 (GRCm38) D383G probably benign Het
Sik3 C T 9: 46,221,148 (GRCm38) T1346M probably damaging Het
Slx1b A T 7: 126,692,796 (GRCm38) V63E probably damaging Het
Son A G 16: 91,657,086 (GRCm38) D907G probably damaging Het
Src G A 2: 157,469,212 (GRCm38) V401M probably damaging Het
St3gal4 T C 9: 35,054,757 (GRCm38) K24E possibly damaging Het
Stat6 A G 10: 127,658,245 (GRCm38) K647R probably damaging Het
Tbl1xr1 G A 3: 22,193,169 (GRCm38) probably null Het
Tlk2 G A 11: 105,256,952 (GRCm38) probably null Het
Tmbim6 T A 15: 99,401,615 (GRCm38) I3K probably benign Het
Tmeff2 A T 1: 51,181,867 (GRCm38) I334F probably damaging Het
Ttn T C 2: 76,840,315 (GRCm38) probably null Het
Ubl7 T A 9: 57,914,611 (GRCm38) I81N probably damaging Het
Ugt1a10 A G 1: 88,055,711 (GRCm38) Y77C probably damaging Het
Uqcrfs1 A G 13: 30,540,907 (GRCm38) C217R probably damaging Het
Usp50 T C 2: 126,761,634 (GRCm38) T331A probably benign Het
Vmn1r65 A G 7: 6,009,157 (GRCm38) V26A probably benign Het
Wdfy3 A C 5: 101,917,579 (GRCm38) V1241G possibly damaging Het
Wtap A C 17: 12,981,744 (GRCm38) probably null Het
Zbtb40 C A 4: 136,984,837 (GRCm38) A1187S possibly damaging Het
Zfp57 T C 17: 37,006,098 (GRCm38) S20P probably damaging Het
Zfp592 A G 7: 81,024,479 (GRCm38) D397G probably damaging Het
Zfp747 A T 7: 127,374,504 (GRCm38) S165T probably benign Het
Zfp949 C T 9: 88,569,838 (GRCm38) T487I probably damaging Het
Zscan4d A G 7: 11,164,994 (GRCm38) C119R probably damaging Het
Other mutations in Nbea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Nbea APN 3 55,628,493 (GRCm38) missense probably damaging 1.00
IGL00541:Nbea APN 3 55,968,089 (GRCm38) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- CCCTGTAAGACTAAGTGGCACGAAAG -3'
(R):5'- CGATGGTCCTTCATATACAGTCTGCCC -3'

Sequencing Primer
(F):5'- CCACAAATTAGTTCAGACTGAGAG -3'
(R):5'- aaaGAGTTTCCAAAGCCTACTATTTC -3'
Posted On 2014-03-14