Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:Nebl'

680078

Institutional Source

Beutler Lab

Gene Symbol

Nebl

Ensembl Gene

ENSMUSG00000053702

Gene Name

nebulette

Synonyms

Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik

MMRRC Submission

068699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8906 (G1)

Quality Score

160.009

Status

Validated

Chromosome

Chromosomal Location

17348720-17736275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17382928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 116 (N116K)

Ref Sequence

ENSEMBL: ENSMUSP00000137567 (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 benign
Transcript: ENSMUST00000124270
AA Change: N713K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: N713K

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

probably benign
Transcript: ENSMUST00000177966
AA Change: N116K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137567
Gene: ENSMUSG00000053702
AA Change: N116K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	C	19: 3,766,686 (GRCm39)	N91T	possibly damaging	Het
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
4932414N04Rik	A	G	2: 68,562,498 (GRCm39)	D375G	possibly damaging	Het
Adad2	C	A	8: 120,339,725 (GRCm39)	P69Q	probably benign	Het
Adamts3	G	A	5: 89,825,575 (GRCm39)	T1088I	probably damaging	Het
Ank2	A	G	3: 126,726,720 (GRCm39)	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,939,798 (GRCm39)	N475S	probably benign	Het
Barhl2	G	A	5: 106,603,352 (GRCm39)	T269I	probably benign	Het
Boc	G	A	16: 44,323,931 (GRCm39)	R157W		Het
Bsn	G	T	9: 107,984,752 (GRCm39)	P3101T	unknown	Het
Catsperb	C	A	12: 101,486,904 (GRCm39)	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,787,842 (GRCm39)	I220K	probably benign	Het
Cd200r3	A	T	16: 44,778,102 (GRCm39)	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,632,911 (GRCm39)	D37A	probably damaging	Het
Chek2	A	G	5: 111,013,458 (GRCm39)		probably benign	Het
Cngb1	A	T	8: 95,989,736 (GRCm39)	V792D	probably damaging	Het
Cops7a	T	C	6: 124,939,371 (GRCm39)	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,820,995 (GRCm39)	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,869,157 (GRCm39)	D1170G	probably damaging	Het
Dhx35	A	G	2: 158,648,918 (GRCm39)	T115A	possibly damaging	Het
Dnai1	G	A	4: 41,625,125 (GRCm39)	R363H	probably benign	Het
Dnmbp	T	A	19: 43,878,681 (GRCm39)	Q130L	probably benign	Het
Egfr	A	G	11: 16,861,635 (GRCm39)	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,182,678 (GRCm39)	L329Q	probably damaging	Het
Enkur	A	G	2: 21,201,568 (GRCm39)	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615 (GRCm39)	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,144,634 (GRCm39)	I310K	probably damaging	Het
Fga	C	A	3: 82,939,111 (GRCm39)	N495K	probably benign	Het
Galnt6	T	C	15: 100,601,247 (GRCm39)	D344G	probably damaging	Het
Gm572	A	G	4: 148,751,290 (GRCm39)	Q221R	probably benign	Het
Gpa33	G	A	1: 165,974,216 (GRCm39)	A18T	probably benign	Het
Gpatch11	C	T	17: 79,145,289 (GRCm39)	T6I	probably benign	Het
Gpr84	T	A	15: 103,217,625 (GRCm39)	S151C	probably damaging	Het
H2-M11	T	A	17: 36,859,851 (GRCm39)	Y281*	probably null	Het
Hadh	T	C	3: 131,038,891 (GRCm39)	N155S	probably benign	Het
Hoxd13	A	G	2: 74,500,266 (GRCm39)	Y269C		Het
Iars1	T	A	13: 49,882,177 (GRCm39)	C1074S	probably benign	Het
Ibtk	G	T	9: 85,625,457 (GRCm39)	H98N	possibly damaging	Het
Igsf10	C	T	3: 59,233,739 (GRCm39)	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,625,337 (GRCm39)		probably benign	Het
Ipo9	A	C	1: 135,321,951 (GRCm39)	V593G	probably damaging	Het
Irx3	T	C	8: 92,526,915 (GRCm39)	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,927,154 (GRCm39)	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,460,393 (GRCm39)	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,045,219 (GRCm39)	D155G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Mob2	A	T	7: 141,563,261 (GRCm39)	L66Q	probably damaging	Het
Myh1	A	G	11: 67,096,739 (GRCm39)	S337G	probably benign	Het
Neb	T	C	2: 52,096,259 (GRCm39)	D1002G	probably benign	Het
Nkx2-6	T	C	14: 69,412,623 (GRCm39)	S264P	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,020,556 (GRCm39)	T348A	possibly damaging	Het
Nomo1	A	T	7: 45,722,004 (GRCm39)	I982F	probably benign	Het
Or10j5	A	G	1: 172,784,186 (GRCm39)		probably benign	Het
Or11g24	T	G	14: 50,662,291 (GRCm39)	F105C	probably damaging	Het
Or1j19	A	T	2: 36,676,621 (GRCm39)	Y28F	probably benign	Het
Or8g22	A	G	9: 38,958,077 (GRCm39)	F213L	possibly damaging	Het
Palld	A	G	8: 62,003,198 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,879,154 (GRCm39)	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,804,167 (GRCm39)	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,714,451 (GRCm39)	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,821,399 (GRCm39)	R253H	probably damaging	Het
Pramel58	G	T	5: 94,831,413 (GRCm39)	R140L	possibly damaging	Het
Prr18	G	A	17: 8,560,476 (GRCm39)	A211T	probably benign	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Rara	G	T	11: 98,860,989 (GRCm39)	R159L	probably damaging	Het
Rasa4	T	A	5: 136,133,446 (GRCm39)	I635N	probably benign	Het
Rxfp2	A	T	5: 149,989,888 (GRCm39)	H423L	possibly damaging	Het
Scn4b	A	G	9: 45,059,169 (GRCm39)	I147V	possibly damaging	Het
Scrn3	G	A	2: 73,161,352 (GRCm39)	V313I	probably benign	Het
Scrn3	C	A	2: 73,161,355 (GRCm39)	P314T	possibly damaging	Het
Sh2b1	A	G	7: 126,070,292 (GRCm39)		probably null	Het
Slc26a10	T	C	10: 127,016,459 (GRCm39)	Q3R	probably benign	Het
Slitrk1	A	G	14: 109,149,139 (GRCm39)	I524T	probably damaging	Het
Smcp	T	A	3: 92,491,530 (GRCm39)	N106Y	unknown	Het
Spata31h1	T	C	10: 82,122,379 (GRCm39)	T3544A	probably benign	Het
St8sia5	G	A	18: 77,336,172 (GRCm39)	V202M	probably damaging	Het
Stxbp5l	A	T	16: 37,028,526 (GRCm39)	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,397,046 (GRCm39)	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,831,145 (GRCm39)	V320D	probably damaging	Het
Tmem71	T	A	15: 66,404,606 (GRCm39)	I261L	probably benign	Het
Tns2	T	C	15: 102,020,039 (GRCm39)	L643P	probably damaging	Het
Upf1	G	A	8: 70,786,815 (GRCm39)	Q890*	probably null	Het
Usp43	A	T	11: 67,782,307 (GRCm39)	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,507,356 (GRCm39)	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,286,532 (GRCm39)	N343K	probably benign	Het
Vwa8	T	C	14: 79,329,815 (GRCm39)	S1216P	probably benign	Het
Yars1	A	C	4: 129,090,747 (GRCm39)	D97A	probably damaging	Het
Zer1	G	A	2: 30,001,035 (GRCm39)	H129Y	probably benign	Het
Zfat	C	T	15: 67,956,404 (GRCm39)	D1143N	possibly 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
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
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
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'- GCCGCCAGTCAAATGAGACTATC -3'
(R):5'- GAGTGGATTTGAGTGCCAGC -3'

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

Posted On

2021-08-31