Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Nbea'

597914

Institutional Source

Beutler Lab

Gene Symbol

Nbea

Ensembl Gene

ENSMUSG00000027799

Gene Name

neurobeachin

Synonyms

MMRRC Submission

045818-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55625195-56183701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55649705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 2550 (H2550Q)

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: H2550Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029374
Gene: ENSMUSG00000027799
AA Change: H2550Q

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

Meta Mutation Damage Score

0.9316

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686 (GRCm38)	V622I	probably benign	Het
Acod1	T	G	14: 103,051,340 (GRCm38)	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322 (GRCm38)	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680 (GRCm38)	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104 (GRCm38)	P1124S	probably damaging	Het
Armh3	A	G	19: 45,940,443 (GRCm38)		probably null	Het
Atp4a	T	C	7: 30,720,036 (GRCm38)	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467 (GRCm38)	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556 (GRCm38)	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338 (GRCm38)	S128P	probably benign	Het
Cat	T	C	2: 103,456,858 (GRCm38)	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957 (GRCm38)	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069 (GRCm38)		probably null	Het
Clec2e	A	G	6: 129,095,128 (GRCm38)	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191 (GRCm38)	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141 (GRCm38)	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324 (GRCm38)	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500 (GRCm38)	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381 (GRCm38)	N116K		Het
Dnaja4	A	G	9: 54,709,210 (GRCm38)	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032 (GRCm38)	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719 (GRCm38)	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439 (GRCm38)	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545 (GRCm38)	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533 (GRCm38)	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696 (GRCm38)	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432 (GRCm38)	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322 (GRCm38)	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337 (GRCm38)	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174 (GRCm38)	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326 (GRCm38)	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125 (GRCm38)	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992 (GRCm38)	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667 (GRCm38)	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435 (GRCm38)	P18L	probably damaging	Het
H2-Q6	A	G	17: 35,428,101 (GRCm38)	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039 (GRCm38)	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199 (GRCm38)	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396 (GRCm38)	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757 (GRCm38)	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440 (GRCm38)	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201 (GRCm38)	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421 (GRCm38)	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284 (GRCm38)	T376K	possibly damaging	Het
Muc21	G	A	17: 35,622,085 (GRCm38)	T403I	unknown	Het
Nid1	G	A	13: 13,489,045 (GRCm38)	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819 (GRCm38)	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523 (GRCm38)	C460S	probably benign	Het
Or1j19	A	T	2: 36,787,010 (GRCm38)	I162F	probably benign	Het
Or1s2	A	T	19: 13,781,286 (GRCm38)	R223W	probably damaging	Het
Or2g7	G	A	17: 38,067,675 (GRCm38)	C168Y	probably damaging	Het
Or2y10	T	A	11: 49,564,761 (GRCm38)	I280N	possibly damaging	Het
Or4b1b	T	A	2: 90,296,631 (GRCm38)	K77*	probably null	Het
Or6c33	A	G	10: 130,017,181 (GRCm38)		probably benign	Het
Or8d1b	G	A	9: 38,976,194 (GRCm38)	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571 (GRCm38)	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924 (GRCm38)	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623 (GRCm38)	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173 (GRCm38)	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273 (GRCm38)	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466 (GRCm38)	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666 (GRCm38)	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193 (GRCm38)	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316 (GRCm38)	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249 (GRCm38)	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497 (GRCm38)	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928 (GRCm38)		probably null	Het
Shh	T	G	5: 28,466,666 (GRCm38)	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174 (GRCm38)	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501 (GRCm38)		probably null	Het
Tbx2	A	G	11: 85,835,901 (GRCm38)	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306 (GRCm38)	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416 (GRCm38)	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696 (GRCm38)	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376 (GRCm38)	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149 (GRCm38)	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222 (GRCm38)	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937 (GRCm38)	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675 (GRCm38)	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946 (GRCm38)		probably null	Het
Vwa3b	A	C	1: 37,124,045 (GRCm38)	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272 (GRCm38)	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635 (GRCm38)	F1356I	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
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
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
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'- ACCCTTAAAGGCTTATGGAGAAG -3'
(R):5'- CTGAGAAAAGAGCACTCCTGG -3'

Sequencing Primer
(F):5'- GGAGAAGTAAAAGCTGCTTTCTTC -3'
(R):5'- AGAGCACTCCTGGAATTTTCTGGAC -3'

Posted On

2019-11-26