Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Bnc1'

690396

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin zinc finger protein 1

Synonyms

MMRRC Submission

068902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81616401-81642047 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81624646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 194 (V194I)

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: V194I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: V194I

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: 98.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,534,524 (GRCm39)	S844R	possibly damaging	Het
Adig	C	A	2: 158,347,709 (GRCm39)		probably benign	Het
Aspm	A	G	1: 139,421,436 (GRCm39)	N3106S	possibly damaging	Het
Bcas1	A	T	2: 170,190,081 (GRCm39)		probably benign	Het
Bco1	A	C	8: 117,844,143 (GRCm39)	I286L	probably benign	Het
Bptf	G	A	11: 106,959,176 (GRCm39)	R1912W	probably damaging	Het
Cacna1a	A	G	8: 85,344,511 (GRCm39)	I1858V	probably benign	Het
Chdh	T	C	14: 29,753,703 (GRCm39)	F204S	probably damaging	Het
Cic	A	G	7: 24,985,470 (GRCm39)	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cts8	A	G	13: 61,397,036 (GRCm39)	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,587,572 (GRCm39)	T333A	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dmxl2	T	C	9: 54,316,548 (GRCm39)	I1613V	probably benign	Het
Eme1	A	G	11: 94,540,958 (GRCm39)	L260S	probably damaging	Het
Ermp1	A	C	19: 29,623,415 (GRCm39)	S192A	probably benign	Het
Fam186a	T	C	15: 99,843,079 (GRCm39)	Q1055R	probably benign	Het
Fat1	C	T	8: 45,466,127 (GRCm39)	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,491,336 (GRCm39)	N3822S	probably benign	Het
Gm973	A	G	1: 59,675,317 (GRCm39)	T225A		Het
Gnl2	A	G	4: 124,941,357 (GRCm39)	Y367C	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Inafm1	A	G	7: 16,007,196 (GRCm39)	V7A	unknown	Het
Irx2	A	G	13: 72,777,392 (GRCm39)	D71G	possibly damaging	Het
Kash5	G	A	7: 44,854,058 (GRCm39)	R24C	unknown	Het
Kif13a	T	C	13: 46,966,263 (GRCm39)	Y448C	probably damaging	Het
Lcor	G	T	19: 41,574,839 (GRCm39)	R1198L	probably damaging	Het
Ldlrad4	A	T	18: 68,197,746 (GRCm39)	N10I	probably benign	Het
Lix1	T	C	17: 17,677,392 (GRCm39)	Y196H	possibly damaging	Het
Lrrc37	A	C	11: 103,509,830 (GRCm39)	S713A	unknown	Het
Mon1a	A	G	9: 107,779,835 (GRCm39)	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,498,140 (GRCm39)	I177N	probably damaging	Het
Mterf4	A	T	1: 93,229,515 (GRCm39)	Y236*	probably null	Het
Myo1f	T	A	17: 33,813,036 (GRCm39)	I614N	probably damaging	Het
Nbas	T	A	12: 13,385,856 (GRCm39)	S707T	possibly damaging	Het
Ncl	A	T	1: 86,279,183 (GRCm39)	S577T	possibly damaging	Het
Or10al4	T	A	17: 38,037,060 (GRCm39)	N48K	probably damaging	Het
Or52d13	T	C	7: 103,109,896 (GRCm39)	D173G		Het
Or6c2b	A	T	10: 128,947,892 (GRCm39)	M134K	probably damaging	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or7g17	A	T	9: 18,768,550 (GRCm39)	I201F	probably benign	Het
Or8g17	A	G	9: 38,930,016 (GRCm39)	S274P	probably damaging	Het
Padi1	C	A	4: 140,559,602 (GRCm39)		probably null	Het
Patj	G	A	4: 98,401,871 (GRCm39)	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,535,770 (GRCm39)	D588V	probably damaging	Het
Pdzph1	C	A	17: 59,261,395 (GRCm39)	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,463,378 (GRCm39)	V91I	probably benign	Het
Plin4	T	C	17: 56,416,345 (GRCm39)	D53G	possibly damaging	Het
Poll	T	C	19: 45,546,317 (GRCm39)	Q241R	probably benign	Het
Recql5	A	T	11: 115,785,475 (GRCm39)	L674M	possibly damaging	Het
Shroom3	G	A	5: 93,098,533 (GRCm39)	G1338S	probably damaging	Het
Slc38a8	C	T	8: 120,212,780 (GRCm39)	V294I	probably benign	Het
Slc4a1ap	T	C	5: 31,684,457 (GRCm39)	V31A	probably benign	Het
Tln2	G	A	9: 67,269,927 (GRCm39)	P489S	probably damaging	Het
Trappc9	G	A	15: 72,608,626 (GRCm39)	R928*	probably null	Het
Uba7	C	A	9: 107,855,166 (GRCm39)	T343N	probably benign	Het
Vasn	C	T	16: 4,467,871 (GRCm39)	T606I	probably benign	Het
Xrn2	T	A	2: 146,880,199 (GRCm39)	D507E	probably damaging	Het
Zfp592	T	A	7: 80,674,644 (GRCm39)	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,157,100 (GRCm39)	H266L	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
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
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'- GCATGTACTGTTCAGGCAGC -3'
(R):5'- CGTGGACTGGCATTCTCTTAC -3'

Sequencing Primer
(F):5'- TTCAGGCAGCGACCCTATCAG -3'
(R):5'- GGACTGGCATTCTCTTACCTTCTG -3'

Posted On

2021-12-30