Mutagenetix > Incidental Mutation

Incidental Mutation 'R5658:Nebl'

443915

Institutional Source

Beutler Lab

Gene Symbol

Nebl

Ensembl Gene

ENSMUSG00000053702

Gene Name

nebulette

Synonyms

Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik

MMRRC Submission

043172-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5658 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17348720-17736275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17353663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 963 (Y963H)

Ref Sequence

ENSEMBL: ENSMUSP00000117805 (fasta)

Gene Model

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

AlphaFold

Q0II04

Predicted Effect

probably damaging
Transcript: ENSMUST00000028080
AA Change: Y219H

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

SMART Domains

Protein: ENSMUSP00000028080
Gene: ENSMUSG00000053702
AA Change: Y219H

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: Y963H

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

SMART Domains

Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: Y963H

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

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,644 (GRCm39)	L221P	probably damaging	Het
Art2b	A	G	7: 101,229,569 (GRCm39)	V110A	probably damaging	Het
Bccip	A	G	7: 133,319,349 (GRCm39)	I147V	possibly damaging	Het
Bcl9l	G	T	9: 44,420,466 (GRCm39)	G1254W	probably damaging	Het
Cep68	C	T	11: 20,191,885 (GRCm39)		probably null	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
F5	C	A	1: 164,019,907 (GRCm39)	T794K	probably damaging	Het
Faf2	T	C	13: 54,789,347 (GRCm39)	V55A	probably benign	Het
Gm7535	T	A	17: 18,131,582 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,326,852 (GRCm39)	V1471A	possibly damaging	Het
Kbtbd4	T	A	2: 90,736,423 (GRCm39)	S145T	probably benign	Het
Kcnh3	C	T	15: 99,139,957 (GRCm39)	P948S	possibly damaging	Het
Kcnq1	G	A	7: 142,917,432 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,815,770 (GRCm39)		probably null	Het
Krt9	A	G	11: 100,081,593 (GRCm39)	I312T	probably damaging	Het
Lactb2	T	A	1: 13,697,642 (GRCm39)	H254L	probably benign	Het
Lama5	A	T	2: 179,850,069 (GRCm39)	Y187*	probably null	Het
Ldc1	A	G	4: 130,114,234 (GRCm39)	V61A	probably benign	Het
Maf1	T	C	15: 76,237,420 (GRCm39)	V154A	possibly damaging	Het
Mlh1	A	G	9: 111,076,448 (GRCm39)	V303A	probably damaging	Het
Mrgprh	A	T	17: 13,096,646 (GRCm39)	K295N	possibly damaging	Het
Mtrr	G	T	13: 68,717,034 (GRCm39)	A393D	possibly damaging	Het
Myef2l	C	T	3: 10,153,837 (GRCm39)	S202F	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Pmpcb	A	G	5: 21,943,999 (GRCm39)	T78A	probably damaging	Het
Ptprz1	G	A	6: 23,016,188 (GRCm39)	R1677Q	probably damaging	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,790,514 (GRCm39)		probably null	Het
Sh3bp2	T	A	5: 34,714,291 (GRCm39)	I162N	probably damaging	Het
Slc38a10	C	T	11: 119,996,218 (GRCm39)	A960T	probably benign	Het
Sntb1	C	T	15: 55,655,472 (GRCm39)	C248Y	probably damaging	Het
Sowahc	G	A	10: 59,059,049 (GRCm39)	R395H	possibly damaging	Het
Tbc1d5	T	C	17: 51,120,869 (GRCm39)	R416G	probably benign	Het
Tnfaip6	A	T	2: 51,941,047 (GRCm39)	Y196F	possibly damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Try5	T	C	6: 41,289,361 (GRCm39)	R72G	probably damaging	Het
Vwa8	T	C	14: 79,219,838 (GRCm39)		probably null	Het

Other mutations in Nebl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Nebl	APN	2	17,353,679 (GRCm39)	missense	probably damaging	0.99
IGL02732:Nebl	APN	2	17,457,295 (GRCm39)	splice site	probably benign
IGL03241:Nebl	APN	2	17,397,975 (GRCm39)	critical splice donor site	probably null
IGL03334:Nebl	APN	2	17,418,522 (GRCm39)	missense	probably damaging	0.98
BB008:Nebl	UTSW	2	17,381,433 (GRCm39)	critical splice donor site	probably null
BB018:Nebl	UTSW	2	17,381,433 (GRCm39)	critical splice donor site	probably null
R0068:Nebl	UTSW	2	17,439,782 (GRCm39)	nonsense	probably null
R0127:Nebl	UTSW	2	17,397,794 (GRCm39)	missense	probably benign	0.31
R0128:Nebl	UTSW	2	17,397,834 (GRCm39)	missense	possibly damaging	0.65
R0130:Nebl	UTSW	2	17,397,834 (GRCm39)	missense	possibly damaging	0.65
R0130:Nebl	UTSW	2	17,395,737 (GRCm39)	start gained	probably benign
R0537:Nebl	UTSW	2	17,409,026 (GRCm39)	missense	possibly damaging	0.62
R0743:Nebl	UTSW	2	17,415,929 (GRCm39)	missense	probably benign
R0884:Nebl	UTSW	2	17,415,929 (GRCm39)	missense	probably benign
R1364:Nebl	UTSW	2	17,397,848 (GRCm39)	unclassified	probably benign
R1638:Nebl	UTSW	2	17,381,462 (GRCm39)	missense	possibly damaging	0.94
R1711:Nebl	UTSW	2	17,393,565 (GRCm39)	missense	probably damaging	0.96
R1933:Nebl	UTSW	2	17,380,103 (GRCm39)	missense	probably damaging	0.97
R1990:Nebl	UTSW	2	17,457,321 (GRCm39)	missense	probably damaging	0.98
R1991:Nebl	UTSW	2	17,457,321 (GRCm39)	missense	probably damaging	0.98
R1992:Nebl	UTSW	2	17,457,321 (GRCm39)	missense	probably damaging	0.98
R2062:Nebl	UTSW	2	17,401,932 (GRCm39)	missense	probably benign	0.39
R2183:Nebl	UTSW	2	17,409,027 (GRCm39)	missense	probably damaging	0.99
R2325:Nebl	UTSW	2	17,397,827 (GRCm39)	missense	possibly damaging	0.79
R2679:Nebl	UTSW	2	17,429,402 (GRCm39)	missense	probably benign	0.03
R2877:Nebl	UTSW	2	17,439,740 (GRCm39)	missense	probably damaging	0.99
R2878:Nebl	UTSW	2	17,439,740 (GRCm39)	missense	probably damaging	0.99
R3079:Nebl	UTSW	2	17,381,462 (GRCm39)	missense	possibly damaging	0.94
R3080:Nebl	UTSW	2	17,381,462 (GRCm39)	missense	possibly damaging	0.94
R3878:Nebl	UTSW	2	17,398,063 (GRCm39)	missense	possibly damaging	0.83
R3947:Nebl	UTSW	2	17,382,917 (GRCm39)	critical splice donor site	probably null
R4983:Nebl	UTSW	2	17,380,082 (GRCm39)	missense	possibly damaging	0.80
R5006:Nebl	UTSW	2	17,393,582 (GRCm39)	splice site	probably null
R5256:Nebl	UTSW	2	17,438,786 (GRCm39)	missense	probably benign	0.37
R5491:Nebl	UTSW	2	17,439,783 (GRCm39)	nonsense	probably null
R5533:Nebl	UTSW	2	17,398,079 (GRCm39)	nonsense	probably null
R5597:Nebl	UTSW	2	17,382,978 (GRCm39)	missense	probably benign
R5933:Nebl	UTSW	2	17,408,998 (GRCm39)	missense	probably benign
R6056:Nebl	UTSW	2	17,455,045 (GRCm39)	missense	probably benign	0.13
R6161:Nebl	UTSW	2	17,735,641 (GRCm39)	missense	probably benign	0.26
R6646:Nebl	UTSW	2	17,381,496 (GRCm39)	missense	probably damaging	1.00
R6784:Nebl	UTSW	2	17,439,725 (GRCm39)	nonsense	probably null
R6935:Nebl	UTSW	2	17,353,637 (GRCm39)	missense	probably damaging	1.00
R7196:Nebl	UTSW	2	17,457,329 (GRCm39)	missense	probably damaging	1.00
R7671:Nebl	UTSW	2	17,395,727 (GRCm39)	nonsense	probably null
R7728:Nebl	UTSW	2	17,375,325 (GRCm39)	missense
R7931:Nebl	UTSW	2	17,381,433 (GRCm39)	critical splice donor site	probably null
R8007:Nebl	UTSW	2	17,375,300 (GRCm39)	missense
R8048:Nebl	UTSW	2	17,429,333 (GRCm39)	missense	probably benign	0.12
R8118:Nebl	UTSW	2	17,384,631 (GRCm39)	missense	possibly damaging	0.48
R8317:Nebl	UTSW	2	17,355,568 (GRCm39)	missense	possibly damaging	0.71
R8349:Nebl	UTSW	2	17,418,593 (GRCm39)	missense	probably damaging	0.98
R8360:Nebl	UTSW	2	17,465,298 (GRCm39)	missense	probably benign	0.04
R8392:Nebl	UTSW	2	17,457,363 (GRCm39)	missense	probably benign	0.36
R8449:Nebl	UTSW	2	17,418,593 (GRCm39)	missense	probably damaging	0.98
R8537:Nebl	UTSW	2	17,355,520 (GRCm39)	missense	probably benign	0.02
R8778:Nebl	UTSW	2	17,409,078 (GRCm39)	missense	probably damaging	1.00
R8893:Nebl	UTSW	2	17,735,671 (GRCm39)	start codon destroyed	probably null	1.00
R8894:Nebl	UTSW	2	17,380,036 (GRCm39)	missense	probably benign	0.01
R8906:Nebl	UTSW	2	17,382,928 (GRCm39)	missense	probably benign	0.18
R8929:Nebl	UTSW	2	17,397,991 (GRCm39)	nonsense	probably null
R9054:Nebl	UTSW	2	17,415,907 (GRCm39)	missense	possibly damaging	0.72
R9119:Nebl	UTSW	2	17,405,370 (GRCm39)	missense	probably damaging	0.96
R9211:Nebl	UTSW	2	17,393,501 (GRCm39)	critical splice donor site	probably null
R9225:Nebl	UTSW	2	17,405,322 (GRCm39)	missense	possibly damaging	0.70
R9296:Nebl	UTSW	2	17,429,451 (GRCm39)	splice site	probably benign
R9310:Nebl	UTSW	2	17,353,678 (GRCm39)	missense	probably benign	0.16
R9474:Nebl	UTSW	2	17,374,421 (GRCm39)	nonsense	probably null
X0012:Nebl	UTSW	2	17,448,605 (GRCm39)	missense	probably benign	0.16
X0025:Nebl	UTSW	2	17,409,078 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCATAATAAAGCTCGAAGGGC -3'
(R):5'- GGTACTGTGCTATCTTTCTGGACC -3'

Sequencing Primer
(F):5'- GGGCAAGGAGAAAGAATTAATTCAC -3'
(R):5'- GGACCCTTGCTTTGACCTTAAATATG -3'

Posted On

2016-11-09