Mutagenetix > Incidental Mutation

Incidental Mutation 'R7151:Bnc1'

554130

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin 1

Synonyms

MMRRC Submission

045253-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81966672-81992292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81973307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 724 (T724N)

Ref Sequence

ENSEMBL: ENSMUSP00000026096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026096]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026096
AA Change: T724N

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: T724N

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	313	327	N/A	INTRINSIC
ZnF_C2H2	354	377	1.43e-1	SMART
ZnF_C2H2	382	411	6.75e0	SMART
low complexity region	505	514	N/A	INTRINSIC
low complexity region	541	554	N/A	INTRINSIC
low complexity region	570	583	N/A	INTRINSIC
low complexity region	619	633	N/A	INTRINSIC
ZnF_C2H2	716	739	1.47e-3	SMART
ZnF_C2H2	744	771	5.62e0	SMART
low complexity region	855	876	N/A	INTRINSIC
ZnF_C2H2	924	947	3.11e-2	SMART
ZnF_C2H2	952	979	8.09e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit thinning and delayed wound healing of the corneal epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,740,606	Q52L	unknown	Het
Acsl1	A	G	8: 46,513,597	D202G	probably damaging	Het
Adam3	A	T	8: 24,695,255	C476S	probably damaging	Het
Adam34	T	A	8: 43,651,462	E382V	probably benign	Het
Akap5	G	A	12: 76,328,249	V152I	probably benign	Het
Aldh5a1	C	T	13: 24,937,399	W57*	probably null	Het
Angptl2	C	T	2: 33,243,910	Q415*	probably null	Het
Brca2	T	C	5: 150,541,436	V1555A	probably benign	Het
Btn1a1	T	A	13: 23,459,313	D322V	probably damaging	Het
Chsy3	T	A	18: 59,409,285	D498E	possibly damaging	Het
Ddx24	T	C	12: 103,424,088	T215A	probably benign	Het
Dhx57	A	T	17: 80,273,047	V492E	probably damaging	Het
Dnhd1	G	A	7: 105,710,027	R3523Q	probably benign	Het
Dock3	T	A	9: 106,964,717	D971V	possibly damaging	Het
Ercc8	T	C	13: 108,187,282		probably null	Het
Erich5	T	A	15: 34,470,949	L108Q	probably damaging	Het
F5	A	T	1: 164,201,661	Y1743F	probably damaging	Het
Fam196a	A	C	7: 134,918,645	I52S	probably damaging	Het
Gale	T	C	4: 135,967,192	V243A	probably damaging	Het
Gspt1	T	A	16: 11,253,828	Q57L	probably benign	Het
Gtf3a	C	A	5: 146,951,275	Q129K	probably benign	Het
Heyl	T	C	4: 123,246,461	V271A	probably benign	Het
Hsd17b4	T	C	18: 50,128,370	F7L	probably damaging	Het
Hspa12a	T	C	19: 58,822,162	T150A	probably benign	Het
Ift140	T	A	17: 25,055,725	D790E	probably damaging	Het
Igkv4-69	T	A	6: 69,283,933	Y70F	probably damaging	Het
Il1rap	T	C	16: 26,712,128	Y405H	probably damaging	Het
Irf2bpl	G	T	12: 86,883,353	P182Q	probably benign	Het
Itm2b	C	A	14: 73,368,389		probably benign	Het
Kcnc2	T	C	10: 112,458,509	V106A	possibly damaging	Het
Krt83	C	A	15: 101,489,648	D170Y	probably damaging	Het
Lca5	T	A	9: 83,398,640	Y369F	probably benign	Het
Mgat5	T	A	1: 127,446,262	D466E	probably damaging	Het
Mier3	C	T	13: 111,714,768	P428L	probably benign	Het
Myo6	T	C	9: 80,245,136	Y167H	unknown	Het
Neu2	A	G	1: 87,596,575	E94G	probably benign	Het
Nlrp9a	A	T	7: 26,557,247	K97*	probably null	Het
Npdc1	A	G	2: 25,409,108	M306V	probably damaging	Het
Odf2l	A	T	3: 145,127,066	N95I	probably benign	Het
Olfr1101	A	G	2: 86,989,041	V45A	probably benign	Het
Olfr218	A	G	1: 173,204,066	K237E	probably damaging	Het
Olfr270	G	T	4: 52,970,665	V15L	probably benign	Het
Olfr836	A	G	9: 19,121,741	Y259C	possibly damaging	Het
P2ry12	A	G	3: 59,217,706	F183L	probably benign	Het
Proser3	A	G	7: 30,540,324	F452L	possibly damaging	Het
Ptgfrn	G	T	3: 101,080,195	Y117*	probably null	Het
Rab3gap2	G	T	1: 185,248,053	V360F	probably benign	Het
Rp1l1	A	T	14: 64,029,026	D687V	possibly damaging	Het
Rxfp2	T	G	5: 150,043,107	N103K	probably benign	Het
Scfd2	T	A	5: 74,397,665	Q517L	possibly damaging	Het
Scnn1b	G	A	7: 121,917,886	A582T	probably damaging	Het
Serpinb6e	T	C	13: 33,837,835	E170G	probably damaging	Het
Serpinb8	T	A	1: 107,605,797	V194E	probably damaging	Het
Sgcz	T	A	8: 37,539,679	H191L	possibly damaging	Het
Sirt1	A	T	10: 63,323,996	L435Q	probably damaging	Het
Sorcs1	G	A	19: 50,312,982	P315S	probably damaging	Het
Spdef	T	A	17: 27,720,160	S71C	possibly damaging	Het
Spta1	T	A	1: 174,197,751	H727Q	probably damaging	Het
Srsf1	C	T	11: 88,049,258	Q199*	probably null	Het
Stard9	A	T	2: 120,696,142	D960V	probably benign	Het
Tcp10c	A	T	17: 13,355,904	I49F	possibly damaging	Het
Tgm2	T	C	2: 158,129,395	N308S	possibly damaging	Het
Tiam2	A	G	17: 3,448,385	D812G	probably benign	Het
Tph1	A	T	7: 46,662,117	V67D	possibly damaging	Het
Trps1	C	T	15: 50,822,397	R794H	possibly damaging	Het
Ttn	C	T	2: 76,853,161	A906T		Het
Vmn1r124	G	A	7: 21,260,259	P120L	probably benign	Het
Vmn2r92	A	T	17: 18,166,743	T115S	probably benign	Het
Wdr11	A	G	7: 129,606,652	D377G	probably damaging	Het
Wdr55	G	T	18: 36,762,936	A251S	possibly damaging	Het
Zbtb7b	C	T	3: 89,380,902	R203H	probably benign	Het
Zfp109	A	T	7: 24,229,806	H67Q	probably benign	Het
Zfp462	G	A	4: 55,051,271	C2248Y	probably damaging	Het
Zyg11b	T	C	4: 108,244,922	H534R	possibly damaging	Het

Other mutations in Bnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Bnc1	APN	7	81973707	nonsense	probably null
IGL01293:Bnc1	APN	7	81974489	missense	probably damaging	0.99
IGL02064:Bnc1	APN	7	81973503	missense	probably benign	0.00
IGL02529:Bnc1	APN	7	81977368	missense	probably damaging	0.99
IGL03087:Bnc1	APN	7	81974642	missense	possibly damaging	0.86
R0088:Bnc1	UTSW	7	81978498	missense	possibly damaging	0.52
R0312:Bnc1	UTSW	7	81977324	missense	possibly damaging	0.95
R0631:Bnc1	UTSW	7	81974366	missense	probably damaging	0.99
R0924:Bnc1	UTSW	7	81978408	splice site	probably benign
R0928:Bnc1	UTSW	7	81973502	missense	probably benign
R1967:Bnc1	UTSW	7	81973636	missense	probably benign	0.03
R2243:Bnc1	UTSW	7	81974073	missense	possibly damaging	0.59
R2404:Bnc1	UTSW	7	81968715	missense	probably benign	0.08
R4079:Bnc1	UTSW	7	81973760	missense	probably damaging	0.99
R4416:Bnc1	UTSW	7	81968960	missense	probably benign
R5038:Bnc1	UTSW	7	81968714	missense	probably damaging	1.00
R5055:Bnc1	UTSW	7	81974415	missense	probably damaging	0.99
R7083:Bnc1	UTSW	7	81973310	missense	probably damaging	1.00
R7117:Bnc1	UTSW	7	81973361	missense	possibly damaging	0.92
R7386:Bnc1	UTSW	7	81974492	missense	possibly damaging	0.81
R7950:Bnc1	UTSW	7	81973502	missense	probably benign
R8355:Bnc1	UTSW	7	81968876	missense	probably damaging	0.97
R8773:Bnc1	UTSW	7	81973971	missense	probably damaging	1.00
R9083:Bnc1	UTSW	7	81974898	missense	probably benign
Z1176:Bnc1	UTSW	7	81974542	missense	probably damaging	0.97
Z1177:Bnc1	UTSW	7	81968470	missense	probably damaging	0.97
Z1186:Bnc1	UTSW	7	81973259	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATCATGCCTTTCCAGGTCATG -3'
(R):5'- TACATGGAGTTGCAGCAGC -3'

Sequencing Primer
(F):5'- ACATCTACAGAGCTGTGCTTCAGG -3'
(R):5'- AGTTGCAGCAGCGCCTG -3'

Posted On

2019-05-15