Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Bnc1'

316750

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin zinc finger protein 1

Synonyms

MMRRC Submission

040976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81616401-81642047 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81623508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 573 (E573G)

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: E573G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: E573G

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

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,247,473 (GRCm39)		probably null	Het
Ankfy1	C	A	11: 72,580,835 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,720,694 (GRCm39)	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Armc9	A	T	1: 86,140,851 (GRCm39)		probably benign	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 123,374,434 (GRCm39)		probably null	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdc45	A	T	16: 18,630,110 (GRCm39)	V19D	probably damaging	Het
Cfap57	C	A	4: 118,456,194 (GRCm39)	S500I	probably benign	Het
Cnga3	A	T	1: 37,280,946 (GRCm39)	Q47L	possibly damaging	Het
Corin	T	C	5: 72,661,226 (GRCm39)	D89G	probably benign	Het
Cox16	A	T	12: 81,521,109 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,006,791 (GRCm39)	N50S	probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fcer1a	C	T	1: 173,052,920 (GRCm39)	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,892,120 (GRCm39)	V318A	probably damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Kpna7	A	G	5: 144,942,737 (GRCm39)	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,601,110 (GRCm39)		probably null	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,596,998 (GRCm39)	L152W	probably damaging	Het
Mog	A	G	17: 37,323,302 (GRCm39)	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,439,634 (GRCm39)	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,441,057 (GRCm39)	R531Q	probably damaging	Het
Mx2	A	G	16: 97,357,236 (GRCm39)	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,806,123 (GRCm39)	Y323H	probably damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Or52x1	A	T	7: 104,853,228 (GRCm39)	H107Q	probably damaging	Het
Or8u10	A	G	2: 85,915,656 (GRCm39)	V155A	possibly damaging	Het
Patl1	C	T	19: 11,908,994 (GRCm39)	A467V	probably damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phax	A	G	18: 56,709,051 (GRCm39)	N183S	possibly damaging	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptpru	A	T	4: 131,526,021 (GRCm39)		probably null	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,115,510 (GRCm39)	S693P	probably benign	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Serpina3a	C	T	12: 104,085,934 (GRCm39)	Q320*	probably null	Het
Slc12a1	A	T	2: 125,042,543 (GRCm39)	N733I	possibly damaging	Het
Snap47	C	T	11: 59,319,377 (GRCm39)	V254I	probably benign	Het
Speer4e2	A	T	5: 15,027,663 (GRCm39)	L71Q	probably damaging	Het
St6galnac2	A	T	11: 116,572,724 (GRCm39)	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tns1	G	A	1: 74,034,467 (GRCm39)	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,667,537 (GRCm39)	L3P	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp32	T	A	11: 84,930,055 (GRCm39)	Y574F	probably damaging	Het

Other mutations in Bnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Bnc1	APN	7	81,623,455 (GRCm39)	nonsense	probably null
IGL01293:Bnc1	APN	7	81,624,237 (GRCm39)	missense	probably damaging	0.99
IGL02064:Bnc1	APN	7	81,623,251 (GRCm39)	missense	probably benign	0.00
IGL02529:Bnc1	APN	7	81,627,116 (GRCm39)	missense	probably damaging	0.99
IGL03087:Bnc1	APN	7	81,624,390 (GRCm39)	missense	possibly damaging	0.86
R0088:Bnc1	UTSW	7	81,628,246 (GRCm39)	missense	possibly damaging	0.52
R0312:Bnc1	UTSW	7	81,627,072 (GRCm39)	missense	possibly damaging	0.95
R0631:Bnc1	UTSW	7	81,624,114 (GRCm39)	missense	probably damaging	0.99
R0924:Bnc1	UTSW	7	81,628,156 (GRCm39)	splice site	probably benign
R0928:Bnc1	UTSW	7	81,623,250 (GRCm39)	missense	probably benign
R1967:Bnc1	UTSW	7	81,623,384 (GRCm39)	missense	probably benign	0.03
R2243:Bnc1	UTSW	7	81,623,821 (GRCm39)	missense	possibly damaging	0.59
R2404:Bnc1	UTSW	7	81,618,463 (GRCm39)	missense	probably benign	0.08
R4416:Bnc1	UTSW	7	81,618,708 (GRCm39)	missense	probably benign
R5038:Bnc1	UTSW	7	81,618,462 (GRCm39)	missense	probably damaging	1.00
R5055:Bnc1	UTSW	7	81,624,163 (GRCm39)	missense	probably damaging	0.99
R7083:Bnc1	UTSW	7	81,623,058 (GRCm39)	missense	probably damaging	1.00
R7117:Bnc1	UTSW	7	81,623,109 (GRCm39)	missense	possibly damaging	0.92
R7151:Bnc1	UTSW	7	81,623,055 (GRCm39)	missense	possibly damaging	0.71
R7386:Bnc1	UTSW	7	81,624,240 (GRCm39)	missense	possibly damaging	0.81
R7950:Bnc1	UTSW	7	81,623,250 (GRCm39)	missense	probably benign
R8355:Bnc1	UTSW	7	81,618,624 (GRCm39)	missense	probably damaging	0.97
R8773:Bnc1	UTSW	7	81,623,719 (GRCm39)	missense	probably damaging	1.00
R9083:Bnc1	UTSW	7	81,624,646 (GRCm39)	missense	probably benign
Z1176:Bnc1	UTSW	7	81,624,290 (GRCm39)	missense	probably damaging	0.97
Z1177:Bnc1	UTSW	7	81,618,218 (GRCm39)	missense	probably damaging	0.97
Z1186:Bnc1	UTSW	7	81,623,007 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACCAGGCCAGCTGTGAAATG -3'
(R):5'- ACAGCTGGTTTCCACAGAC -3'

Sequencing Primer
(F):5'- AGCTGTGAAATGGCGCTC -3'
(R):5'- AGACATGCCATTCGATGCTC -3'

Posted On

2015-05-15