Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02146:Nebl'

281781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nebl

Ensembl Gene

ENSMUSG00000053702

Gene Name

nebulette

Synonyms

Lnebl, 1200007O21Rik, A630080F05Rik, D830029A09Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02146

Quality Score

Status

Chromosome

Chromosomal Location

17343909-17731464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17348868 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 957 (R957S)

Ref Sequence

ENSEMBL: ENSMUSP00000117805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270]

Predicted Effect

probably benign
Transcript: ENSMUST00000028080
AA Change: R213S

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028080
Gene: ENSMUSG00000053702
AA Change: R213S

Domain	Start	End	E-Value	Type
LIM	4	56	6.95e-14	SMART
NEBU	62	92	3.35e-8	SMART
NEBU	98	128	4.88e-10	SMART
NEBU	134	164	3.82e-3	SMART
SH3	213	270	2.12e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124270
AA Change: R957S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: R957S

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
NEBU	30	60	1.21e-5	SMART
NEBU	65	95	5.4e-3	SMART
NEBU	102	132	4.46e-4	SMART
NEBU	139	169	1.31e-1	SMART
NEBU	173	203	5.4e-3	SMART
NEBU	207	237	2.74e-4	SMART
NEBU	245	275	1.57e0	SMART
NEBU	280	310	9.67e-1	SMART
NEBU	315	345	6.25e-8	SMART
NEBU	351	381	5.97e-5	SMART
NEBU	387	418	2.56e-4	SMART
NEBU	425	455	8.91e-4	SMART
NEBU	462	492	4.92e-6	SMART
NEBU	499	529	2.33e-7	SMART
NEBU	536	566	1.84e-5	SMART
NEBU	571	601	2.23e-4	SMART
NEBU	602	632	1.24e-2	SMART
NEBU	664	694	6.6e-7	SMART
NEBU	695	725	6.86e-5	SMART
NEBU	726	756	2.03e-7	SMART
NEBU	761	791	1.74e-6	SMART
NEBU	797	827	3.82e-3	SMART
SH3	957	1014	2.12e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124611

SMART Domains

Protein: ENSMUSP00000116065
Gene: ENSMUSG00000053702

Domain	Start	End	E-Value	Type
NEBU	3	33	4.88e-10	SMART
NEBU	39	69	3.82e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138241

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,256,740	C784R	possibly damaging	Het
Akp3	A	T	1: 87,126,575	D278V	probably benign	Het
Atxn7l1	G	T	12: 33,368,031	R730S	probably benign	Het
Bag6	A	G	17: 35,136,215	T30A	probably damaging	Het
Blk	G	T	14: 63,374,199	P429H	probably damaging	Het
Bmp2k	T	A	5: 97,064,830	M524K	unknown	Het
Bst1	T	A	5: 43,826,336	H221Q	probably damaging	Het
Ces2g	T	C	8: 104,966,944	I419T	possibly damaging	Het
Cnep1r1	T	C	8: 88,129,698	V34A	probably benign	Het
Ctnnbl1	A	G	2: 157,819,494	E308G	probably damaging	Het
Cyp20a1	A	T	1: 60,371,251	K237I	possibly damaging	Het
Dlg5	T	C	14: 24,202,361	T104A	probably damaging	Het
Dnah9	C	T	11: 65,927,700	V3271M	probably damaging	Het
Eed	T	A	7: 89,969,595	N204Y	possibly damaging	Het
Fat3	A	G	9: 15,999,582	V1708A	probably benign	Het
Fcrl6	T	C	1: 172,598,697	T178A	probably benign	Het
Galnt4	A	C	10: 99,109,701	K429N	possibly damaging	Het
Ints6	T	A	14: 62,759,260	T94S	possibly damaging	Het
Iqsec3	A	T	6: 121,383,957	S981T	probably damaging	Het
Itga9	T	A	9: 118,834,332	S146T	possibly damaging	Het
Itpr3	A	G	17: 27,117,275	Y2325C	probably damaging	Het
Kng2	T	A	16: 22,987,832	Q539L	probably damaging	Het
Lmtk3	T	A	7: 45,794,947		probably benign	Het
Lrrc6	C	T	15: 66,489,525	W42*	probably null	Het
Lrrc6	C	A	15: 66,489,526	W42L	probably benign	Het
Map1a	T	C	2: 121,299,446	Y248H	probably damaging	Het
Mroh1	A	G	15: 76,434,679		probably benign	Het
Mroh2b	T	C	15: 4,951,294		probably null	Het
Myo18b	A	T	5: 112,843,285	M942K	probably damaging	Het
Myzap	T	A	9: 71,564,448	T94S	probably benign	Het
Nexn	A	T	3: 152,247,248	D278E	probably benign	Het
Nlgn1	A	T	3: 25,912,682	N222K	probably damaging	Het
Olfr26	G	A	9: 38,855,358	A99T	probably benign	Het
Olfr809	T	A	10: 129,776,858		probably benign	Het
Osbpl6	A	T	2: 76,549,750	R79S	possibly damaging	Het
Phip	T	C	9: 82,881,718	I1268M	probably benign	Het
Pkd2	G	T	5: 104,489,291	R590L	probably damaging	Het
Reg2	G	A	6: 78,405,585		probably benign	Het
Scaf1	A	T	7: 45,013,510	D26E	probably damaging	Het
Ska1	A	G	18: 74,196,910	I253T	possibly damaging	Het
Slc11a2	T	C	15: 100,401,288	N443D	probably damaging	Het
Slc6a12	A	T	6: 121,353,501	T155S	probably benign	Het
Slit3	A	G	11: 35,234,848	K118R	possibly damaging	Het
Snap23	T	G	2: 120,599,311	N212K	probably damaging	Het
Snx13	T	A	12: 35,101,079	D346E	probably benign	Het
Sumf1	C	A	6: 108,173,431		probably null	Het
Susd2	T	C	10: 75,638,433	N479S	possibly damaging	Het
Tiam1	A	G	16: 89,849,681	I821T	probably benign	Het
Tll2	C	A	19: 41,097,837	V651L	probably benign	Het
Vmn2r1	A	G	3: 64,104,683	D655G	probably benign	Het
Vmn2r72	T	C	7: 85,737,962	Y798C	probably damaging	Het
Vps13b	A	C	15: 35,646,333	I1528L	probably benign	Het
Wdtc1	G	A	4: 133,301,765	L337F	probably benign	Het
Zfp128	A	C	7: 12,890,032	K109T	possibly damaging	Het

Other mutations in Nebl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02732:Nebl	APN	2	17452484	splice site	probably benign
IGL03241:Nebl	APN	2	17393164	critical splice donor site	probably null
IGL03334:Nebl	APN	2	17413711	missense	probably damaging	0.98
BB008:Nebl	UTSW	2	17376622	critical splice donor site	probably null
BB018:Nebl	UTSW	2	17376622	critical splice donor site	probably null
R0068:Nebl	UTSW	2	17434971	nonsense	probably null
R0127:Nebl	UTSW	2	17392983	missense	probably benign	0.31
R0128:Nebl	UTSW	2	17393023	missense	possibly damaging	0.65
R0130:Nebl	UTSW	2	17393023	missense	possibly damaging	0.65
R0130:Nebl	UTSW	2	17390926	start gained	probably benign
R0537:Nebl	UTSW	2	17404215	missense	possibly damaging	0.62
R0743:Nebl	UTSW	2	17411118	missense	probably benign
R0884:Nebl	UTSW	2	17411118	missense	probably benign
R1364:Nebl	UTSW	2	17393037	unclassified	probably benign
R1638:Nebl	UTSW	2	17376651	missense	possibly damaging	0.94
R1711:Nebl	UTSW	2	17388754	missense	probably damaging	0.96
R1933:Nebl	UTSW	2	17375292	missense	probably damaging	0.97
R1990:Nebl	UTSW	2	17452510	missense	probably damaging	0.98
R1991:Nebl	UTSW	2	17452510	missense	probably damaging	0.98
R1992:Nebl	UTSW	2	17452510	missense	probably damaging	0.98
R2062:Nebl	UTSW	2	17397121	missense	probably benign	0.39
R2183:Nebl	UTSW	2	17404216	missense	probably damaging	0.99
R2325:Nebl	UTSW	2	17393016	missense	possibly damaging	0.79
R2679:Nebl	UTSW	2	17424591	missense	probably benign	0.03
R2877:Nebl	UTSW	2	17434929	missense	probably damaging	0.99
R2878:Nebl	UTSW	2	17434929	missense	probably damaging	0.99
R3079:Nebl	UTSW	2	17376651	missense	possibly damaging	0.94
R3080:Nebl	UTSW	2	17376651	missense	possibly damaging	0.94
R3878:Nebl	UTSW	2	17393252	missense	possibly damaging	0.83
R3947:Nebl	UTSW	2	17378106	critical splice donor site	probably null
R4983:Nebl	UTSW	2	17375271	missense	possibly damaging	0.80
R5006:Nebl	UTSW	2	17388771	splice site	probably null
R5256:Nebl	UTSW	2	17433975	missense	probably benign	0.37
R5491:Nebl	UTSW	2	17434972	nonsense	probably null
R5533:Nebl	UTSW	2	17393268	nonsense	probably null
R5597:Nebl	UTSW	2	17378167	missense	probably benign
R5658:Nebl	UTSW	2	17348852	missense	probably damaging	1.00
R5933:Nebl	UTSW	2	17404187	missense	probably benign
R6056:Nebl	UTSW	2	17450234	missense	probably benign	0.13
R6161:Nebl	UTSW	2	17730830	missense	probably benign	0.26
R6646:Nebl	UTSW	2	17376685	missense	probably damaging	1.00
R6784:Nebl	UTSW	2	17434914	nonsense	probably null
R6935:Nebl	UTSW	2	17348826	missense	probably damaging	1.00
R7196:Nebl	UTSW	2	17452518	missense	probably damaging	1.00
R7671:Nebl	UTSW	2	17390916	nonsense	probably null
R7728:Nebl	UTSW	2	17370514	missense
R7931:Nebl	UTSW	2	17376622	critical splice donor site	probably null
R8007:Nebl	UTSW	2	17370489	missense
R8048:Nebl	UTSW	2	17424522	missense	probably benign	0.12
R8118:Nebl	UTSW	2	17379820	missense	possibly damaging	0.48
R8317:Nebl	UTSW	2	17350757	missense	possibly damaging	0.71
R8349:Nebl	UTSW	2	17413782	missense	probably damaging	0.98
R8360:Nebl	UTSW	2	17460487	missense	probably benign	0.04
R8392:Nebl	UTSW	2	17452552	missense	probably benign	0.36
R8449:Nebl	UTSW	2	17413782	missense	probably damaging	0.98
X0012:Nebl	UTSW	2	17443794	missense	probably benign	0.16
X0025:Nebl	UTSW	2	17404267	missense	probably damaging	1.00

Posted On

2015-04-16