Mutagenetix > Incidental Mutation

Incidental Mutation 'P0007:Nbeal1'

7636

Institutional Source

Beutler Lab

Gene Symbol

Nbeal1

Ensembl Gene

ENSMUSG00000073664

Gene Name

neurobeachin like 1

Synonyms

A530083I02Rik, A530050O19Rik, ALS2CR17, 2310076G13Rik

MMRRC Submission

038263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60219758-60377487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60358847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1176 (I1176M)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160834] [ENSMUST00000162291]

AlphaFold

E9PYP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035569
AA Change: I1176M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049393
Gene: ENSMUSG00000073664
AA Change: I1176M

Domain	Start	End	E-Value	Type
low complexity region	522	541	N/A	INTRINSIC
low complexity region	719	735	N/A	INTRINSIC
Pfam:DUF4704	851	1130	3.4e-39	PFAM
low complexity region	1383	1401	N/A	INTRINSIC
Pfam:DUF4800	1575	1828	6.3e-126	PFAM
coiled coil region	1859	1882	N/A	INTRINSIC
Pfam:PH_BEACH	1889	1975	2e-24	PFAM
Beach	1998	2278	7.2e-199	SMART
Blast:Beach	2342	2405	6e-30	BLAST
WD40	2425	2463	5.52e-2	SMART
WD40	2475	2514	4.95e-4	SMART
WD40	2604	2649	7.64e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160834
AA Change: I2512M

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124056
Gene: ENSMUSG00000073664
AA Change: I2512M

Domain	Start	End	E-Value	Type
low complexity region	522	541	N/A	INTRINSIC
Pfam:Laminin_G_3	567	801	8.3e-9	PFAM
low complexity region	1383	1401	N/A	INTRINSIC
low complexity region	1849	1865	N/A	INTRINSIC
Pfam:PH_BEACH	1882	1975	4.9e-32	PFAM
Beach	1998	2278	7.2e-199	SMART
Blast:Beach	2342	2405	6e-30	BLAST
WD40	2425	2463	5.52e-2	SMART
WD40	2475	2514	4.95e-4	SMART
WD40	2604	2649	7.64e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162291

SMART Domains

Protein: ENSMUSP00000125592
Gene: ENSMUSG00000073664

Domain	Start	End	E-Value	Type
low complexity region	114	132	N/A	INTRINSIC
low complexity region	580	596	N/A	INTRINSIC
Pfam:PH_BEACH	613	706	9.6e-33	PFAM

Meta Mutation Damage Score

0.2771

Coding Region Coverage

1x: 85.2%
3x: 80.2%
10x: 65.3%
20x: 42.8%

Validation Efficiency

94% (102/109)

Allele List at MGI

All alleles(16) : Targeted(1) Gene trapped(15)

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	G	13: 104,433,999 (GRCm39)	T143A	possibly damaging	Het
Cfap74	T	A	4: 155,506,685 (GRCm39)	S139T	possibly damaging	Het
Fbxo7	T	C	10: 85,869,157 (GRCm39)	S204P	possibly damaging	Het
Itga2	A	T	13: 115,002,735 (GRCm39)	I585N	probably damaging	Het
Lgi3	A	G	14: 70,774,152 (GRCm39)	Y442C	probably damaging	Het
Magi1	A	G	6: 93,722,969 (GRCm39)	I530T	probably damaging	Het
Med12l	T	C	3: 58,998,816 (GRCm39)		probably benign	Het
Ostn	G	T	16: 27,143,279 (GRCm39)	G36*	probably null	Het

Other mutations in Nbeal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Nbeal1	APN	1	60,274,350 (GRCm39)	nonsense	probably null	0.00
IGL00334:Nbeal1	APN	1	60,321,042 (GRCm39)	missense	probably damaging	0.98
IGL00334:Nbeal1	APN	1	60,367,262 (GRCm39)	missense	probably damaging	1.00
IGL00514:Nbeal1	APN	1	60,256,384 (GRCm39)	missense	probably benign	0.31
IGL00596:Nbeal1	APN	1	60,220,900 (GRCm39)	missense	probably damaging	0.96
IGL00654:Nbeal1	APN	1	60,234,170 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL00757:Nbeal1	APN	1	60,234,302 (GRCm39)	missense	possibly damaging	0.82
IGL00771:Nbeal1	APN	1	60,274,512 (GRCm39)	missense	probably benign	0.11
IGL01315:Nbeal1	APN	1	60,320,500 (GRCm39)	missense	probably damaging	1.00
IGL01445:Nbeal1	APN	1	60,281,784 (GRCm39)	critical splice donor site	probably null
IGL01456:Nbeal1	APN	1	60,269,787 (GRCm39)	missense	probably damaging	1.00
IGL01458:Nbeal1	APN	1	60,281,784 (GRCm39)	critical splice donor site	probably null
IGL01535:Nbeal1	APN	1	60,256,414 (GRCm39)	missense	probably damaging	1.00
IGL01608:Nbeal1	APN	1	60,281,694 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL02006:Nbeal1	APN	1	60,311,418 (GRCm39)	critical splice donor site	probably null
IGL02105:Nbeal1	APN	1	60,292,660 (GRCm39)	missense	probably damaging	1.00
IGL02409:Nbeal1	APN	1	60,368,494 (GRCm39)	missense	probably benign	0.01
IGL02713:Nbeal1	APN	1	60,274,396 (GRCm39)	missense	possibly damaging	0.94
IGL02720:Nbeal1	APN	1	60,323,146 (GRCm39)	missense	probably damaging	0.98
IGL02887:Nbeal1	APN	1	60,326,603 (GRCm39)	splice site	probably benign
IGL02945:Nbeal1	APN	1	60,245,569 (GRCm39)	missense	probably damaging	1.00
IGL03023:Nbeal1	APN	1	60,292,572 (GRCm39)	missense	probably damaging	0.98
IGL03114:Nbeal1	APN	1	60,317,886 (GRCm39)	missense	probably damaging	1.00
IGL03231:Nbeal1	APN	1	60,275,618 (GRCm39)	missense	probably benign	0.44
IGL03241:Nbeal1	APN	1	60,274,027 (GRCm39)	missense	possibly damaging	0.46
IGL03241:Nbeal1	APN	1	60,274,028 (GRCm39)	missense	probably benign	0.44
IGL03382:Nbeal1	APN	1	60,300,745 (GRCm39)	critical splice donor site	probably null
IGL03412:Nbeal1	APN	1	60,281,726 (GRCm39)	nonsense	probably null
coach	UTSW	1	60,292,640 (GRCm39)	nonsense	probably null
Committee	UTSW	1	60,332,062 (GRCm39)	missense	probably damaging	1.00
Disgrace	UTSW	1	60,320,469 (GRCm39)	nonsense	probably null
Dravrah	UTSW	1	60,323,251 (GRCm39)	missense	probably damaging	1.00
Harvard	UTSW	1	60,274,722 (GRCm39)	splice site	probably null
horrified	UTSW	1	60,283,983 (GRCm39)	missense	probably damaging	1.00
Lampoon	UTSW	1	60,300,745 (GRCm39)	critical splice donor site	probably null
lawyer	UTSW	1	60,349,383 (GRCm39)	nonsense	probably null
magistrate	UTSW	1	60,233,756 (GRCm39)	critical splice donor site	probably null
Maratimus	UTSW	1	60,331,047 (GRCm39)	missense	probably damaging	1.00
National	UTSW	1	60,261,422 (GRCm39)	missense	possibly damaging	0.95
phainopepla	UTSW	1	60,358,846 (GRCm39)	missense	probably damaging	1.00
R3875_Nbeal1_770	UTSW	1	60,233,758 (GRCm39)	splice site	probably benign
satirical	UTSW	1	60,274,721 (GRCm39)	critical splice donor site	probably null
silky	UTSW	1	60,370,037 (GRCm39)	splice site	probably benign
stiggs	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
3-1:Nbeal1	UTSW	1	60,303,431 (GRCm39)	splice site	probably benign
P0028:Nbeal1	UTSW	1	60,331,096 (GRCm39)	missense	probably damaging	1.00
R0041:Nbeal1	UTSW	1	60,321,030 (GRCm39)	missense	probably benign	0.05
R0051:Nbeal1	UTSW	1	60,349,422 (GRCm39)	missense	probably benign	0.19
R0052:Nbeal1	UTSW	1	60,267,771 (GRCm39)	splice site	probably benign
R0054:Nbeal1	UTSW	1	60,326,560 (GRCm39)	utr 3 prime	probably benign
R0062:Nbeal1	UTSW	1	60,286,876 (GRCm39)	missense	probably benign	0.01
R0062:Nbeal1	UTSW	1	60,286,876 (GRCm39)	missense	probably benign	0.01
R0094:Nbeal1	UTSW	1	60,344,468 (GRCm39)	missense	possibly damaging	0.62
R0310:Nbeal1	UTSW	1	60,344,529 (GRCm39)	splice site	probably benign
R0324:Nbeal1	UTSW	1	60,332,032 (GRCm39)	missense	probably damaging	1.00
R0329:Nbeal1	UTSW	1	60,307,222 (GRCm39)	missense	probably damaging	1.00
R0330:Nbeal1	UTSW	1	60,307,222 (GRCm39)	missense	probably damaging	1.00
R0417:Nbeal1	UTSW	1	60,286,893 (GRCm39)	missense	probably benign	0.00
R0421:Nbeal1	UTSW	1	60,307,598 (GRCm39)	missense	probably benign	0.08
R0617:Nbeal1	UTSW	1	60,320,991 (GRCm39)	nonsense	probably null
R1034:Nbeal1	UTSW	1	60,329,165 (GRCm39)	nonsense	probably null
R1082:Nbeal1	UTSW	1	60,351,385 (GRCm39)	missense	probably damaging	0.99
R1123:Nbeal1	UTSW	1	60,299,428 (GRCm39)	missense	probably benign
R1187:Nbeal1	UTSW	1	60,233,687 (GRCm39)	missense	probably damaging	1.00
R1484:Nbeal1	UTSW	1	60,240,098 (GRCm39)	missense	probably damaging	1.00
R1594:Nbeal1	UTSW	1	60,344,450 (GRCm39)	missense	possibly damaging	0.91
R1651:Nbeal1	UTSW	1	60,239,278 (GRCm39)	missense	probably damaging	1.00
R1678:Nbeal1	UTSW	1	60,299,493 (GRCm39)	missense	probably benign	0.00
R1806:Nbeal1	UTSW	1	60,323,251 (GRCm39)	missense	probably damaging	1.00
R1937:Nbeal1	UTSW	1	60,307,100 (GRCm39)	nonsense	probably null
R1952:Nbeal1	UTSW	1	60,273,999 (GRCm39)	missense	probably damaging	1.00
R1953:Nbeal1	UTSW	1	60,273,999 (GRCm39)	missense	probably damaging	1.00
R2038:Nbeal1	UTSW	1	60,245,503 (GRCm39)	missense	probably benign	0.00
R2044:Nbeal1	UTSW	1	60,358,846 (GRCm39)	missense	probably damaging	1.00
R2050:Nbeal1	UTSW	1	60,332,123 (GRCm39)	splice site	probably null
R2055:Nbeal1	UTSW	1	60,350,216 (GRCm39)	missense	probably damaging	1.00
R2064:Nbeal1	UTSW	1	60,309,515 (GRCm39)	missense	possibly damaging	0.89
R2100:Nbeal1	UTSW	1	60,344,430 (GRCm39)	splice site	probably null
R2181:Nbeal1	UTSW	1	60,317,939 (GRCm39)	missense	probably damaging	1.00
R2192:Nbeal1	UTSW	1	60,321,054 (GRCm39)	missense	probably damaging	1.00
R2203:Nbeal1	UTSW	1	60,323,165 (GRCm39)	missense	probably benign	0.21
R2267:Nbeal1	UTSW	1	60,370,037 (GRCm39)	splice site	probably benign
R2268:Nbeal1	UTSW	1	60,370,037 (GRCm39)	splice site	probably benign
R2351:Nbeal1	UTSW	1	60,276,257 (GRCm39)	missense	possibly damaging	0.90
R2366:Nbeal1	UTSW	1	60,290,511 (GRCm39)	missense	probably damaging	0.97
R2393:Nbeal1	UTSW	1	60,290,529 (GRCm39)	missense	probably damaging	0.98
R3545:Nbeal1	UTSW	1	60,317,939 (GRCm39)	missense	probably damaging	1.00
R3546:Nbeal1	UTSW	1	60,317,939 (GRCm39)	missense	probably damaging	1.00
R3547:Nbeal1	UTSW	1	60,317,939 (GRCm39)	missense	probably damaging	1.00
R3701:Nbeal1	UTSW	1	60,290,572 (GRCm39)	splice site	probably benign
R3747:Nbeal1	UTSW	1	60,234,182 (GRCm39)	missense	probably damaging	0.98
R3875:Nbeal1	UTSW	1	60,233,758 (GRCm39)	splice site	probably benign
R4119:Nbeal1	UTSW	1	60,331,029 (GRCm39)	missense	probably damaging	0.99
R4256:Nbeal1	UTSW	1	60,370,107 (GRCm39)	missense	probably benign	0.19
R4371:Nbeal1	UTSW	1	60,329,105 (GRCm39)	missense	possibly damaging	0.95
R4450:Nbeal1	UTSW	1	60,306,933 (GRCm39)	missense	probably damaging	0.97
R4558:Nbeal1	UTSW	1	60,320,469 (GRCm39)	nonsense	probably null
R4618:Nbeal1	UTSW	1	60,267,890 (GRCm39)	intron	probably benign
R4673:Nbeal1	UTSW	1	60,368,549 (GRCm39)	missense	probably damaging	1.00
R4719:Nbeal1	UTSW	1	60,274,722 (GRCm39)	splice site	probably null
R4798:Nbeal1	UTSW	1	60,261,352 (GRCm39)	splice site	probably null
R4826:Nbeal1	UTSW	1	60,290,501 (GRCm39)	missense	possibly damaging	0.79
R4841:Nbeal1	UTSW	1	60,292,534 (GRCm39)	missense	probably damaging	1.00
R4842:Nbeal1	UTSW	1	60,292,534 (GRCm39)	missense	probably damaging	1.00
R4895:Nbeal1	UTSW	1	60,332,062 (GRCm39)	missense	probably damaging	1.00
R4929:Nbeal1	UTSW	1	60,277,813 (GRCm39)	missense	probably damaging	1.00
R5026:Nbeal1	UTSW	1	60,276,338 (GRCm39)	missense	probably damaging	1.00
R5243:Nbeal1	UTSW	1	60,309,487 (GRCm39)	missense	probably damaging	0.99
R5300:Nbeal1	UTSW	1	60,274,718 (GRCm39)	nonsense	probably null
R5345:Nbeal1	UTSW	1	60,367,369 (GRCm39)	critical splice donor site	probably null
R5502:Nbeal1	UTSW	1	60,350,158 (GRCm39)	missense	probably damaging	1.00
R5542:Nbeal1	UTSW	1	60,316,353 (GRCm39)	missense	probably benign	0.00
R5555:Nbeal1	UTSW	1	60,276,311 (GRCm39)	missense	possibly damaging	0.93
R5580:Nbeal1	UTSW	1	60,281,761 (GRCm39)	missense	probably benign	0.45
R5765:Nbeal1	UTSW	1	60,331,006 (GRCm39)	missense	probably damaging	1.00
R5802:Nbeal1	UTSW	1	60,311,380 (GRCm39)	missense	probably benign	0.01
R5907:Nbeal1	UTSW	1	60,267,950 (GRCm39)	intron	probably benign
R5918:Nbeal1	UTSW	1	60,307,051 (GRCm39)	missense	possibly damaging	0.90
R5923:Nbeal1	UTSW	1	60,287,554 (GRCm39)	missense	probably damaging	1.00
R6066:Nbeal1	UTSW	1	60,287,564 (GRCm39)	missense	probably benign	0.29
R6091:Nbeal1	UTSW	1	60,220,715 (GRCm39)	start gained	probably benign
R6113:Nbeal1	UTSW	1	60,261,422 (GRCm39)	missense	possibly damaging	0.95
R6143:Nbeal1	UTSW	1	60,290,466 (GRCm39)	missense	possibly damaging	0.81
R6194:Nbeal1	UTSW	1	60,296,643 (GRCm39)	missense	possibly damaging	0.80
R6197:Nbeal1	UTSW	1	60,261,287 (GRCm39)	missense	probably damaging	0.99
R6228:Nbeal1	UTSW	1	60,335,083 (GRCm39)	missense	probably benign	0.00
R6229:Nbeal1	UTSW	1	60,287,524 (GRCm39)	missense	possibly damaging	0.88
R6309:Nbeal1	UTSW	1	60,277,878 (GRCm39)	missense	probably benign
R6457:Nbeal1	UTSW	1	60,292,633 (GRCm39)	missense	probably benign	0.31
R6489:Nbeal1	UTSW	1	60,370,101 (GRCm39)	missense	possibly damaging	0.89
R6845:Nbeal1	UTSW	1	60,320,469 (GRCm39)	nonsense	probably null
R7021:Nbeal1	UTSW	1	60,300,745 (GRCm39)	critical splice donor site	probably null
R7033:Nbeal1	UTSW	1	60,350,106 (GRCm39)	missense	probably damaging	1.00
R7144:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7145:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7146:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7157:Nbeal1	UTSW	1	60,299,793 (GRCm39)	nonsense	probably null
R7157:Nbeal1	UTSW	1	60,276,317 (GRCm39)	missense	probably damaging	1.00
R7209:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7210:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7211:Nbeal1	UTSW	1	60,240,110 (GRCm39)	missense	probably damaging	1.00
R7212:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7213:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7214:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7283:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7285:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7287:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7296:Nbeal1	UTSW	1	60,349,383 (GRCm39)	nonsense	probably null
R7312:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7313:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7329:Nbeal1	UTSW	1	60,256,355 (GRCm39)	missense	probably benign	0.39
R7380:Nbeal1	UTSW	1	60,283,969 (GRCm39)	missense	probably damaging	1.00
R7414:Nbeal1	UTSW	1	60,233,756 (GRCm39)	critical splice donor site	probably null
R7477:Nbeal1	UTSW	1	60,300,743 (GRCm39)	missense	probably benign
R7507:Nbeal1	UTSW	1	60,274,626 (GRCm39)	missense	probably damaging	1.00
R7642:Nbeal1	UTSW	1	60,316,386 (GRCm39)	missense	probably benign	0.31
R7678:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7689:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7728:Nbeal1	UTSW	1	60,283,983 (GRCm39)	missense	probably damaging	1.00
R7757:Nbeal1	UTSW	1	60,296,609 (GRCm39)	missense	probably damaging	0.97
R7761:Nbeal1	UTSW	1	60,358,500 (GRCm39)	missense	probably benign	0.00
R7813:Nbeal1	UTSW	1	60,331,048 (GRCm39)	missense	probably damaging	1.00
R7829:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R7891:Nbeal1	UTSW	1	60,299,591 (GRCm39)	missense	probably benign
R7902:Nbeal1	UTSW	1	60,331,029 (GRCm39)	missense	probably damaging	0.99
R8022:Nbeal1	UTSW	1	60,299,431 (GRCm39)	nonsense	probably null
R8053:Nbeal1	UTSW	1	60,318,954 (GRCm39)	missense	probably damaging	0.98
R8169:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R8170:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R8178:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R8182:Nbeal1	UTSW	1	60,239,292 (GRCm39)	missense	probably benign	0.00
R8186:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R8187:Nbeal1	UTSW	1	60,276,310 (GRCm39)	missense	probably benign	0.11
R8193:Nbeal1	UTSW	1	60,292,640 (GRCm39)	nonsense	probably null
R8209:Nbeal1	UTSW	1	60,316,336 (GRCm39)	missense	probably damaging	0.99
R8226:Nbeal1	UTSW	1	60,316,336 (GRCm39)	missense	probably damaging	0.99
R8549:Nbeal1	UTSW	1	60,274,721 (GRCm39)	critical splice donor site	probably null
R8560:Nbeal1	UTSW	1	60,274,316 (GRCm39)	missense	probably benign	0.38
R8753:Nbeal1	UTSW	1	60,307,542 (GRCm39)	missense	probably damaging	1.00
R8769:Nbeal1	UTSW	1	60,274,370 (GRCm39)	missense	probably damaging	0.99
R8771:Nbeal1	UTSW	1	60,300,743 (GRCm39)	missense	probably benign
R8952:Nbeal1	UTSW	1	60,299,459 (GRCm39)	missense	probably benign	0.01
R9014:Nbeal1	UTSW	1	60,329,118 (GRCm39)	missense	probably damaging	1.00
R9056:Nbeal1	UTSW	1	60,317,885 (GRCm39)	missense	probably damaging	1.00
R9091:Nbeal1	UTSW	1	60,307,548 (GRCm39)	missense	possibly damaging	0.50
R9138:Nbeal1	UTSW	1	60,286,904 (GRCm39)	nonsense	probably null
R9168:Nbeal1	UTSW	1	60,331,047 (GRCm39)	missense	probably damaging	1.00
R9200:Nbeal1	UTSW	1	60,320,425 (GRCm39)	missense	probably damaging	1.00
R9205:Nbeal1	UTSW	1	60,317,839 (GRCm39)	missense	probably damaging	1.00
R9270:Nbeal1	UTSW	1	60,307,548 (GRCm39)	missense	possibly damaging	0.50
R9322:Nbeal1	UTSW	1	60,297,818 (GRCm39)	missense	possibly damaging	0.91
R9405:Nbeal1	UTSW	1	60,349,424 (GRCm39)	missense	probably damaging	1.00
R9554:Nbeal1	UTSW	1	60,290,287 (GRCm39)	nonsense	probably null
R9557:Nbeal1	UTSW	1	60,274,509 (GRCm39)	missense	probably benign
R9560:Nbeal1	UTSW	1	60,368,544 (GRCm39)	missense	probably damaging	1.00
R9641:Nbeal1	UTSW	1	60,350,247 (GRCm39)	missense	probably damaging	1.00
R9784:Nbeal1	UTSW	1	60,299,741 (GRCm39)	nonsense	probably null
X0022:Nbeal1	UTSW	1	60,316,391 (GRCm39)	missense	probably benign

Nature of Mutation

Multiple transcripts of the Nbeal1 gene are displayed on Ensembl and Vega.

Protein Function and Prediction

NBEAL1 is a member of the Beige and Chediak–Higashi (BEACH)-WD40 domain gene family (1). Due to the presence of a vacuolar-targeting motif in the NBEAL1 protein, it has been proposed that NBEAL1 may be involved in membrane fission or fusion to facilitate membrane-processing signals (1).

Expression/Localization

Northern blot analysis was used to examine the expression pattern of NBEAL1. Transcripts are robust in human brain brain, kidney, prostate, and testis while lowly in the ovary, small intestine, colon and peripheral blood leukocyte (1).

References

1. Chen, J., Lu, Y., Xu, J., Huang, Y., Cheng, H., Hu, G., Luo, C., Lou, M., Cao, G., Xie, Y., and Ying, K. (2004) Identification and Characterization of NBEAL1, a Novel Human Neurobeachin-Like 1 Protein Gene from Fetal Brain, which is Up Regulated in Glioma. Brain Res Mol Brain Res. 125, 147-155.

Posted On

2012-10-05

Science Writer

Anne Murray