Mutagenetix > Incidental Mutation

Incidental Mutation 'R6935:Nebl'

540232

Institutional Source

Beutler Lab

Gene Symbol

Nebl

Ensembl Gene

ENSMUSG00000053702

Gene Name

nebulette

Synonyms

Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik

MMRRC Submission

045008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17348720-17736275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17353637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 971 (D971E)

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: D227E

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

SMART Domains

Protein: ENSMUSP00000028080
Gene: ENSMUSG00000053702
AA Change: D227E

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: D971E

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

SMART Domains

Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: D971E

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,864 (GRCm39)	H14L	probably benign	Het
Adar	A	G	3: 89,654,525 (GRCm39)	N368D	probably benign	Het
Adcy10	T	C	1: 165,334,204 (GRCm39)	V71A	probably benign	Het
Ank1	C	T	8: 23,598,247 (GRCm39)	T755I	probably damaging	Het
Aoc1	A	T	6: 48,885,161 (GRCm39)	Y632F	probably damaging	Het
Bbc3	A	G	7: 16,046,124 (GRCm39)	D20G	possibly damaging	Het
Bche	T	G	3: 73,609,133 (GRCm39)	I98L	probably benign	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Col12a1	A	G	9: 79,607,782 (GRCm39)	Y349H	possibly damaging	Het
Crip2	T	C	12: 113,104,213 (GRCm39)	C8R	probably damaging	Het
Dhx58	T	A	11: 100,589,232 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,312,567 (GRCm39)	R4333C	probably damaging	Het
Dnajb12	T	C	10: 59,732,325 (GRCm39)		probably null	Het
Dzank1	T	C	2: 144,318,014 (GRCm39)	E718G	possibly damaging	Het
Erfl	C	A	7: 24,627,986 (GRCm39)	G181V	possibly damaging	Het
Fbxo28	C	T	1: 182,169,025 (GRCm39)	G38R	unknown	Het
Foxb2	A	G	19: 16,849,983 (GRCm39)	F341S	probably benign	Het
Gabrb3	T	A	7: 57,241,561 (GRCm39)	I29N	probably damaging	Het
Gm7298	G	A	6: 121,744,653 (GRCm39)	R557H	probably benign	Het
Itih3	T	A	14: 30,634,659 (GRCm39)	Q116L	possibly damaging	Het
Lingo1	T	C	9: 56,527,149 (GRCm39)	Y480C	probably damaging	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Mbd5	A	G	2: 49,169,824 (GRCm39)	Y113C	probably damaging	Het
Mcm3ap	C	T	10: 76,340,087 (GRCm39)	P1453S	possibly damaging	Het
Mdn1	T	G	4: 32,774,041 (GRCm39)	F5551V	possibly damaging	Het
Myo16	T	A	8: 10,619,820 (GRCm39)	M1457K	probably benign	Het
Nbeal2	T	A	9: 110,468,459 (GRCm39)	E372V	probably damaging	Het
Ncam2	T	A	16: 81,323,879 (GRCm39)	S508T	probably benign	Het
Nlrp10	A	T	7: 108,526,107 (GRCm39)	M77K	probably damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or2y1d	A	G	11: 49,321,825 (GRCm39)	N174S	probably damaging	Het
Or52ad1	A	T	7: 102,996,002 (GRCm39)	N44K	probably damaging	Het
Or8c18	G	T	9: 38,203,413 (GRCm39)	M57I	probably benign	Het
Pidd1	A	T	7: 141,020,215 (GRCm39)	D570E	probably damaging	Het
Ppfia3	T	C	7: 45,001,631 (GRCm39)	D427G	possibly damaging	Het
Prex1	T	C	2: 166,441,575 (GRCm39)	Y364C	probably damaging	Het
Prlr	A	G	15: 10,319,388 (GRCm39)	S142G	probably damaging	Het
Rack1	T	C	11: 48,694,322 (GRCm39)	V174A	probably damaging	Het
Rhbdl3	C	T	11: 80,228,322 (GRCm39)	A264V	probably damaging	Het
Sh3bp5	T	A	14: 31,101,473 (GRCm39)	M170L	probably damaging	Het
Skint5	A	T	4: 113,799,793 (GRCm39)	F125L	possibly damaging	Het
Slc6a4	T	C	11: 76,917,994 (GRCm39)	Y579H	probably benign	Het
Tmem106b	A	T	6: 13,081,554 (GRCm39)	T154S	possibly damaging	Het
Xrcc5	A	G	1: 72,382,189 (GRCm39)	D455G	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
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'- GGTACCTGTGTGTCTAATTGTCAAAG -3'
(R):5'- CTGGTTTTGAGCTGCCCAAAG -3'

Sequencing Primer
(F):5'- CTGTGTGTCTAATTGTCAAAGTAAGG -3'
(R):5'- GTTTTGAGCTGCCCAAAGATAGC -3'

Posted On

2018-11-06