Mutagenetix > Incidental Mutation

Incidental Mutation 'R5038:Bnc1'

393113

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin 1

Synonyms

MMRRC Submission

042628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5038 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81966672-81992292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81968714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 868 (S868P)

Ref Sequence

ENSEMBL: ENSMUSP00000026096 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026096
AA Change: S868P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: S868P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158486

Meta Mutation Damage Score

0.0740

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

94% (64/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	T	11: 11,589,375 (GRCm38)		probably null	Het
Abtb2	G	T	2: 103,567,063 (GRCm38)	G113C	probably damaging	Het
Acsm5	A	G	7: 119,534,811 (GRCm38)	T272A	probably damaging	Het
Adprs	C	T	4: 126,317,309 (GRCm38)	E272K	possibly damaging	Het
Agbl5	G	A	5: 30,903,059 (GRCm38)	R141Q	probably damaging	Het
Atp7b	A	C	8: 22,028,456 (GRCm38)	I122S	possibly damaging	Het
B230219D22Rik	T	C	13: 55,699,475 (GRCm38)	Y134H	probably damaging	Het
Camta1	T	C	4: 151,145,469 (GRCm38)	E302G	probably damaging	Het
Car1	A	G	3: 14,770,873 (GRCm38)	Y129H	probably damaging	Het
Cdh22	T	C	2: 165,142,277 (GRCm38)	T352A	probably benign	Het
Ckmt2	T	C	13: 91,861,163 (GRCm38)	E215G	probably benign	Het
Cyb5r4	T	G	9: 87,059,077 (GRCm38)		probably null	Het
Dhrs13	A	G	11: 78,032,430 (GRCm38)		probably benign	Het
Dsg1c	G	A	18: 20,264,844 (GRCm38)	A34T	probably benign	Het
Epb41l1	T	C	2: 156,521,410 (GRCm38)	V613A	probably benign	Het
Fam114a1	A	G	5: 65,009,045 (GRCm38)	M240V	probably damaging	Het
Gm15455	T	C	1: 33,838,176 (GRCm38)		noncoding transcript	Het
Herc1	T	G	9: 66,476,460 (GRCm38)		probably benign	Het
Ifna11	T	C	4: 88,820,077 (GRCm38)	V40A	probably benign	Het
Ifna15	T	C	4: 88,558,029 (GRCm38)	N73D	probably benign	Het
Imp4	A	T	1: 34,442,935 (GRCm38)	L45F	probably damaging	Het
Jak3	G	A	8: 71,686,058 (GRCm38)	A967T	probably damaging	Het
Krtap19-2	A	T	16: 88,874,028 (GRCm38)	Y76*	probably null	Het
Map4k5	A	T	12: 69,824,614 (GRCm38)	N492K	probably damaging	Het
Mycbp2	C	T	14: 103,296,939 (GRCm38)	R372H	probably damaging	Het
Nos2	G	A	11: 78,922,314 (GRCm38)	S16N	probably benign	Het
Nr2c2	A	G	6: 92,139,822 (GRCm38)	T2A	probably damaging	Het
Nup188	T	C	2: 30,309,220 (GRCm38)	Y267H	probably damaging	Het
Nxph2	G	A	2: 23,321,544 (GRCm38)		probably null	Het
Or5b107	T	A	19: 13,165,591 (GRCm38)	D192E	probably benign	Het
Or5b96	T	A	19: 12,890,406 (GRCm38)	H57L	probably damaging	Het
Or9i1b	T	A	19: 13,919,458 (GRCm38)	V146E	possibly damaging	Het
Otof	C	T	5: 30,384,439 (GRCm38)	E761K	possibly damaging	Het
Pik3r1	C	T	13: 101,689,444 (GRCm38)	R37Q	probably damaging	Het
Pkn3	T	C	2: 30,085,281 (GRCm38)		probably null	Het
Pold3	A	G	7: 100,121,383 (GRCm38)	V14A	probably damaging	Het
Ptpn14	T	C	1: 189,786,886 (GRCm38)	S38P	probably damaging	Het
Raf1	G	A	6: 115,620,235 (GRCm38)	Q35*	probably null	Het
Rps3a1	C	A	3: 86,138,031 (GRCm38)	E251D	probably benign	Het
Scd1	C	T	19: 44,401,709 (GRCm38)	V207M	probably damaging	Het
Shq1	A	G	6: 100,630,993 (GRCm38)	V319A	probably benign	Het
Slc4a8	T	C	15: 100,795,821 (GRCm38)	Y416H	probably damaging	Het
Slco1a5	C	T	6: 142,266,364 (GRCm38)	G90D	probably damaging	Het
Slco1a5	T	C	6: 142,262,637 (GRCm38)	T143A	probably benign	Het
Snx9	T	C	17: 5,887,073 (GRCm38)	V30A	probably benign	Het
Spdya	T	C	17: 71,588,566 (GRCm38)		probably benign	Het
Stat1	A	T	1: 52,123,209 (GRCm38)	N75I	probably damaging	Het
Sv2b	A	T	7: 75,157,425 (GRCm38)	M159K	probably damaging	Het
Tdh	A	T	14: 63,496,126 (GRCm38)	Y89*	probably null	Het
Tmc7	A	G	7: 118,543,365 (GRCm38)	F600S	probably damaging	Het
Trpa1	T	A	1: 14,910,866 (GRCm38)	H104L	probably damaging	Het
Ttn	G	A	2: 76,848,640 (GRCm38)		probably benign	Het
Vmn1r113	A	G	7: 20,787,494 (GRCm38)	I70M	possibly damaging	Het
Vmn1r171	A	G	7: 23,632,763 (GRCm38)	M138V	probably benign	Het
Zfc3h1	G	A	10: 115,404,211 (GRCm38)	V550I	probably benign	Het
Zfp335	G	T	2: 164,910,644 (GRCm38)	S60*	probably null	Het
Zfp7	T	C	15: 76,891,810 (GRCm38)	M684T	probably benign	Het
Zfp984	T	A	4: 147,755,446 (GRCm38)	H316L	probably damaging	Het
Zmym2	T	A	14: 56,956,180 (GRCm38)	Y1151N	possibly damaging	Het

Other mutations in Bnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Bnc1	APN	7	81,973,707 (GRCm38)	nonsense	probably null
IGL01293:Bnc1	APN	7	81,974,489 (GRCm38)	missense	probably damaging	0.99
IGL02064:Bnc1	APN	7	81,973,503 (GRCm38)	missense	probably benign	0.00
IGL02529:Bnc1	APN	7	81,977,368 (GRCm38)	missense	probably damaging	0.99
IGL03087:Bnc1	APN	7	81,974,642 (GRCm38)	missense	possibly damaging	0.86
R0088:Bnc1	UTSW	7	81,978,498 (GRCm38)	missense	possibly damaging	0.52
R0312:Bnc1	UTSW	7	81,977,324 (GRCm38)	missense	possibly damaging	0.95
R0631:Bnc1	UTSW	7	81,974,366 (GRCm38)	missense	probably damaging	0.99
R0924:Bnc1	UTSW	7	81,978,408 (GRCm38)	splice site	probably benign
R0928:Bnc1	UTSW	7	81,973,502 (GRCm38)	missense	probably benign
R1967:Bnc1	UTSW	7	81,973,636 (GRCm38)	missense	probably benign	0.03
R2243:Bnc1	UTSW	7	81,974,073 (GRCm38)	missense	possibly damaging	0.59
R2404:Bnc1	UTSW	7	81,968,715 (GRCm38)	missense	probably benign	0.08
R4079:Bnc1	UTSW	7	81,973,760 (GRCm38)	missense	probably damaging	0.99
R4416:Bnc1	UTSW	7	81,968,960 (GRCm38)	missense	probably benign
R5055:Bnc1	UTSW	7	81,974,415 (GRCm38)	missense	probably damaging	0.99
R7083:Bnc1	UTSW	7	81,973,310 (GRCm38)	missense	probably damaging	1.00
R7117:Bnc1	UTSW	7	81,973,361 (GRCm38)	missense	possibly damaging	0.92
R7151:Bnc1	UTSW	7	81,973,307 (GRCm38)	missense	possibly damaging	0.71
R7386:Bnc1	UTSW	7	81,974,492 (GRCm38)	missense	possibly damaging	0.81
R7950:Bnc1	UTSW	7	81,973,502 (GRCm38)	missense	probably benign
R8355:Bnc1	UTSW	7	81,968,876 (GRCm38)	missense	probably damaging	0.97
R8773:Bnc1	UTSW	7	81,973,971 (GRCm38)	missense	probably damaging	1.00
R9083:Bnc1	UTSW	7	81,974,898 (GRCm38)	missense	probably benign
Z1176:Bnc1	UTSW	7	81,974,542 (GRCm38)	missense	probably damaging	0.97
Z1177:Bnc1	UTSW	7	81,968,470 (GRCm38)	missense	probably damaging	0.97
Z1186:Bnc1	UTSW	7	81,973,259 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTTTTGGCAGAGATGACAGG -3'
(R):5'- CAAGGAGGCCTATCAGGATGTG -3'

Sequencing Primer
(F):5'- GATGACAGGTTATTGGCAAACC -3'
(R):5'- CCTATCAGGATGTGGCTTTCACG -3'

Posted On

2016-06-15