Mutagenetix > Incidental Mutation

Incidental Mutation 'R2404:Bnc1'

248862

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin zinc finger protein 1

Synonyms

MMRRC Submission

040370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2404 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

81616401-81642047 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81618463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 867 (H867Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026096 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026096
AA Change: H867Q

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: H867Q

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

0.0621

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.2%

Validation Efficiency

98% (52/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,923 (GRCm39)	T98A	possibly damaging	Het
Aifm2	A	G	10: 61,563,974 (GRCm39)	I161V	probably benign	Het
Arhgef26	T	C	3: 62,336,336 (GRCm39)	M625T	possibly damaging	Het
Atp9a	T	A	2: 168,517,283 (GRCm39)		probably null	Het
Avpr1a	T	C	10: 122,285,115 (GRCm39)	F136L	possibly damaging	Het
Bcas3	T	C	11: 85,245,715 (GRCm39)		probably benign	Het
Cdh12	C	T	15: 21,537,720 (GRCm39)	T407I	probably damaging	Het
Chd5	C	T	4: 152,451,791 (GRCm39)	T701M	probably damaging	Het
Dhx57	A	G	17: 80,561,733 (GRCm39)	V927A	probably damaging	Het
Dnah2	A	G	11: 69,328,047 (GRCm39)	F3353L	probably damaging	Het
Ect2	G	A	3: 27,185,999 (GRCm39)	P495S	probably benign	Het
Egfl7	G	A	2: 26,479,162 (GRCm39)	E25K	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hbs1l	A	T	10: 21,171,946 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,709,974 (GRCm39)	T309I	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif12	A	C	4: 63,088,790 (GRCm39)	L170R	probably damaging	Het
Krt90	A	G	15: 101,463,105 (GRCm39)		probably null	Het
Mcu	A	G	10: 59,303,526 (GRCm39)	S104P	probably damaging	Het
Mical3	G	A	6: 120,936,789 (GRCm39)	P374S	probably benign	Het
Ncam2	A	T	16: 81,287,128 (GRCm39)		probably benign	Het
Or12e9	A	G	2: 87,202,568 (GRCm39)	I231V	probably benign	Het
Or2t47	A	T	11: 58,442,546 (GRCm39)	I173N	probably damaging	Het
Or2w1b	T	C	13: 21,300,012 (GRCm39)	L50P	probably damaging	Het
Or5k17	G	A	16: 58,745,998 (GRCm39)	S312L	probably benign	Het
Otud7a	A	G	7: 63,346,899 (GRCm39)	S158G	probably benign	Het
Phlpp1	C	T	1: 106,100,569 (GRCm39)	T279M	probably benign	Het
Pkhd1l1	T	G	15: 44,414,216 (GRCm39)	W2828G	probably damaging	Het
Pnma8a	A	T	7: 16,694,316 (GRCm39)	N57I	probably damaging	Het
Ppp4r4	A	G	12: 103,547,749 (GRCm39)		probably null	Het
Ptprq	T	C	10: 107,522,460 (GRCm39)	Y531C	probably damaging	Het
Rai1	A	G	11: 60,080,750 (GRCm39)	T1605A	probably benign	Het
Satb2	T	C	1: 56,987,267 (GRCm39)	Y106C	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc19a3	T	A	1: 83,000,756 (GRCm39)	H87L	probably benign	Het
Slc4a7	G	T	14: 14,733,733 (GRCm38)	V54L	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spen	T	C	4: 141,205,216 (GRCm39)	N1137S	unknown	Het
Spice1	T	C	16: 44,186,989 (GRCm39)	I162T	probably benign	Het
Spmip1	G	A	6: 29,473,390 (GRCm39)	R173Q	probably benign	Het
Sqor	A	T	2: 122,649,943 (GRCm39)	T396S	probably benign	Het
Tshz3	A	T	7: 36,469,805 (GRCm39)	Q598L	probably damaging	Het
Ttc13	C	T	8: 125,405,736 (GRCm39)		probably benign	Het
Ubxn2a	T	C	12: 4,933,851 (GRCm39)	T187A	probably benign	Het
Usp28	T	C	9: 48,948,558 (GRCm39)		probably null	Het
Zc3h12a	T	C	4: 125,013,316 (GRCm39)	Y516C	probably damaging	Het
Zfp616	A	C	11: 73,975,682 (GRCm39)	K650N	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
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
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'- AGATGACAGGTTATTGGCAAACC -3'
(R):5'- TTCTGCAAGATGTGGCCAAG -3'

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

Posted On

2014-11-11