Mutagenetix > Incidental Mutation

Incidental Mutation 'R3947:Nebl'

307740

Institutional Source

Beutler Lab

Gene Symbol

Nebl

Ensembl Gene

ENSMUSG00000053702

Gene Name

nebulette

Synonyms

Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik

MMRRC Submission

040927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17348720-17736275 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 17382917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028080] [ENSMUST00000124270] [ENSMUST00000177966]

AlphaFold

Q0II04

Predicted Effect

probably benign
Transcript: ENSMUST00000028080

SMART Domains

Protein: ENSMUSP00000028080
Gene: ENSMUSG00000053702

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 null
Transcript: ENSMUST00000124270

SMART Domains

Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702

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: ENSMUST00000127912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150194

Predicted Effect

probably damaging
Transcript: ENSMUST00000177966
AA Change: V120E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137567
Gene: ENSMUSG00000053702
AA Change: V120E

Domain	Start	End	E-Value	Type
NEBU	5	35	2.23e-4	SMART
NEBU	36	66	3.28e-2	SMART
NEBU	67	97	6.6e-7	SMART
NEBU	98	120	2e1	SMART

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	A	14: 54,916,790 (GRCm39)	Q133L	possibly damaging	Het
Adgrg4	C	T	X: 55,963,114 (GRCm39)	T1561I	probably benign	Het
Avl9	T	C	6: 56,705,650 (GRCm39)		probably null	Het
C87436	T	A	6: 86,423,168 (GRCm39)	H247Q	probably damaging	Het
Cfap43	G	T	19: 47,754,418 (GRCm39)	H969N	probably benign	Het
Chst15	T	A	7: 131,849,604 (GRCm39)	N446Y	probably damaging	Het
Col4a3	T	A	1: 82,693,053 (GRCm39)	I1446N	probably damaging	Het
Disc1	A	G	8: 125,814,874 (GRCm39)	E246G	probably damaging	Het
Dyrk4	A	G	6: 126,862,268 (GRCm39)	I408T	probably damaging	Het
Fnbp1l	G	T	3: 122,338,228 (GRCm39)	A481D	possibly damaging	Het
Gm10608	TACACACACACACACACACACACACACACACACACACACACACACACACACACACA	TACACACACACACACACACACACACACACACACACACACACACACACACA	9: 118,989,730 (GRCm39)		probably benign	Het
Grk2	G	A	19: 4,342,445 (GRCm39)	T129M	possibly damaging	Het
Ino80d	G	T	1: 63,113,662 (GRCm39)	Q263K	probably benign	Het
Iqsec3	A	T	6: 121,364,783 (GRCm39)	Y835*	probably null	Het
Irak3	T	A	10: 120,006,278 (GRCm39)	M213L	probably benign	Het
Macf1	T	C	4: 123,274,213 (GRCm39)	R6388G	probably damaging	Het
Mtnr1a	T	C	8: 45,540,557 (GRCm39)	Y173H	probably damaging	Het
Myo5b	C	T	18: 74,828,474 (GRCm39)	R709W	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2g1	A	T	17: 38,107,006 (GRCm39)	I224L	probably benign	Het
Pex11g	G	A	8: 3,515,787 (GRCm39)	T82I	probably benign	Het
Pgr	A	G	9: 8,961,453 (GRCm39)	I842V	probably benign	Het
Pkd1	T	A	17: 24,797,011 (GRCm39)		probably benign	Het
Rbm20	T	C	19: 53,801,768 (GRCm39)	I92T	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Ssh2	A	G	11: 77,289,082 (GRCm39)	D88G	probably damaging	Het
Suclg2	G	T	6: 95,556,219 (GRCm39)		probably null	Het
Tdrd3	A	T	14: 87,744,035 (GRCm39)	D655V	probably damaging	Het
Tex2	C	T	11: 106,410,829 (GRCm39)	D896N	unknown	Het
Tmem168	C	A	6: 13,583,051 (GRCm39)	R610L	probably damaging	Het
Ttc17	A	G	2: 94,206,491 (GRCm39)		probably benign	Het
Vmn2r99	T	C	17: 19,599,252 (GRCm39)	M312T	probably benign	Het
Wdfy3	T	C	5: 102,017,902 (GRCm39)	E2546G	probably damaging	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
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
R5658:Nebl	UTSW	2	17,353,663 (GRCm39)	missense	probably damaging	1.00
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'- CCGCCAGTCAAATGAGACTATC -3'
(R):5'- AACAAGAGTGGATTTGAGTGCC -3'

Sequencing Primer
(F):5'- GGTTCTCAACCCTCATAGTAACATG -3'
(R):5'- TGAGTGCCAGCCTTTGC -3'

Posted On

2015-04-17