Mutagenetix > Incidental Mutation

Incidental Mutation 'R7386:Bnc1'

573093

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin zinc finger protein 1

Synonyms

MMRRC Submission

045468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7386 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81616401-81642047 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 81624240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 329 (L329R)

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: L329R

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: L329R

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

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
4930546C10Rik	A	T	18: 69,083,208 (GRCm39)	M2K	unknown	Het
Ablim3	T	C	18: 61,955,065 (GRCm39)	D308G	probably damaging	Het
Adamts17	A	T	7: 66,618,597 (GRCm39)	K370N	probably benign	Het
Adcy4	T	C	14: 56,015,784 (GRCm39)	Y435C	probably damaging	Het
Adgb	A	T	10: 10,253,693 (GRCm39)	F1216I	possibly damaging	Het
Akr1a1	G	A	4: 116,498,251 (GRCm39)	T98I	probably damaging	Het
Alyref2	G	T	1: 171,331,101 (GRCm39)		probably benign	Het
Ank3	T	A	10: 69,658,079 (GRCm39)	H168Q	unknown	Het
Btaf1	G	A	19: 36,935,782 (GRCm39)	A191T	probably benign	Het
Carmil3	T	G	14: 55,735,204 (GRCm39)		probably null	Het
Cd200r1	C	A	16: 44,610,211 (GRCm39)	D143E	probably benign	Het
Cep112	A	G	11: 108,699,507 (GRCm39)	H98R	probably benign	Het
Cmya5	T	A	13: 93,205,831 (GRCm39)	Q3346L	probably damaging	Het
Cpne4	T	A	9: 104,749,939 (GRCm39)	V81E	possibly damaging	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Ctsj	A	T	13: 61,148,373 (GRCm39)	M307K	possibly damaging	Het
Ddhd2	G	T	8: 26,244,318 (GRCm39)	R103S	possibly damaging	Het
Depdc5	A	G	5: 33,085,280 (GRCm39)	T700A	probably benign	Het
Dhx57	A	C	17: 80,575,006 (GRCm39)	D657E	possibly damaging	Het
Dmbt1	G	A	7: 130,713,965 (GRCm39)	G1678S	unknown	Het
Dnajb1	A	G	8: 84,336,932 (GRCm39)	D234G	probably benign	Het
Dsc2	C	T	18: 20,174,983 (GRCm39)	V431M	possibly damaging	Het
Evi5	C	A	5: 107,957,689 (GRCm39)		probably null	Het
Exoc2	T	C	13: 31,090,646 (GRCm39)		probably null	Het
Foxo3	T	C	10: 42,073,356 (GRCm39)	D387G	probably benign	Het
Gda	A	G	19: 21,387,250 (GRCm39)	I325T	probably benign	Het
Iqgap1	A	G	7: 80,375,790 (GRCm39)	S1362P	probably damaging	Het
Klf10	G	T	15: 38,297,193 (GRCm39)	N282K	possibly damaging	Het
Mettl13	A	G	1: 162,375,723 (GRCm39)	Y35H	probably damaging	Het
Mill2	A	G	7: 18,592,215 (GRCm39)	T279A	probably benign	Het
Ncaph2	G	A	15: 89,254,459 (GRCm39)	W386*	probably null	Het
Nploc4	A	T	11: 120,299,707 (GRCm39)	S338T	probably benign	Het
Nrip1	T	C	16: 76,090,775 (GRCm39)	S261G	probably damaging	Het
Or2y16	T	C	11: 49,335,227 (GRCm39)	F183S	possibly damaging	Het
Or5al1	A	G	2: 85,989,874 (GRCm39)	V280A	possibly damaging	Het
Or7a38	T	A	10: 78,752,677 (GRCm39)	M1K	probably null	Het
Palld	A	G	8: 61,985,086 (GRCm39)	F1060L	unknown	Het
Pfas	C	G	11: 68,894,600 (GRCm39)	V22L	probably benign	Het
Pygo2	T	G	3: 89,340,128 (GRCm39)	F175L	probably benign	Het
Rnf2	T	C	1: 151,347,131 (GRCm39)	E316G	probably damaging	Het
Rtn4	T	A	11: 29,657,772 (GRCm39)	M642K	probably damaging	Het
Saa3	A	G	7: 46,364,347 (GRCm39)	C60R	unknown	Het
Saxo5	A	G	8: 3,537,079 (GRCm39)	K475R	probably benign	Het
Scap	A	G	9: 110,202,237 (GRCm39)	T202A	probably benign	Het
Scn9a	T	A	2: 66,370,894 (GRCm39)	D562V	probably damaging	Het
Slc6a19	A	T	13: 73,838,010 (GRCm39)	V163E	possibly damaging	Het
Smc5	G	A	19: 23,192,539 (GRCm39)	H850Y	possibly damaging	Het
Spef1l	A	T	7: 139,555,965 (GRCm39)	C225*	probably null	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Sulf1	T	C	1: 12,908,585 (GRCm39)	Y533H	probably benign	Het
Thbs2	A	G	17: 14,893,412 (GRCm39)	S923P	possibly damaging	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tmem132c	A	G	5: 127,640,990 (GRCm39)	K1054E	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,612,780 (GRCm39)	C313S	probably benign	Het
Top6bl	G	A	19: 4,713,586 (GRCm39)	R285*	probably null	Het
Tpm1	T	C	9: 66,935,449 (GRCm39)	I284M	probably benign	Het
Trpm4	A	T	7: 44,964,064 (GRCm39)	L722H	possibly damaging	Het
Trub2	T	G	2: 29,676,607 (GRCm39)	Q41P	probably benign	Het
Usp17le	A	C	7: 104,417,514 (GRCm39)		probably null	Het
Zfp398	G	A	6: 47,835,884 (GRCm39)	V148I	probably benign	Het
Zfp40	T	C	17: 23,395,981 (GRCm39)	E202G	probably damaging	Het
Zfp618	T	A	4: 63,013,622 (GRCm39)		probably null	Het
Zfp667	T	A	7: 6,308,949 (GRCm39)	I539N	possibly damaging	Het
Zfp738	A	T	13: 67,818,369 (GRCm39)	C541S	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
R4079:Bnc1	UTSW	7	81,623,508 (GRCm39)	missense	probably damaging	0.99
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
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'- ACACCATGTTACACCCTTCG -3'
(R):5'- CCTGAACAGTACATGCTGGAGC -3'

Sequencing Primer
(F):5'- CGATCGTGCACTTGTGCTTGATC -3'
(R):5'- GCAGGACCAAAGCCAGGAAC -3'

Posted On

2019-09-13