Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01123:Bnc1'

51602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

81966672-81992292 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 81973707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 591 (Q591*)

Ref Sequence

ENSEMBL: ENSMUSP00000026096 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000026096
AA Change: Q591*

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: Q591*

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

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,973,938	D167E	probably damaging	Het
Aadat	A	T	8: 60,526,614	E170V	probably benign	Het
Acsf2	T	C	11: 94,570,450	E300G	probably benign	Het
Agbl3	C	T	6: 34,846,976	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,834,773		probably benign	Het
Arhgef40	C	A	14: 51,994,346	Q730K	probably damaging	Het
Armc3	C	T	2: 19,201,805	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,836,490	T233S	probably benign	Het
Bsn	A	T	9: 108,115,986	F856I	probably damaging	Het
CK137956	T	A	4: 127,935,850	T558S	probably benign	Het
Coq8b	G	A	7: 27,240,084	V180I	probably damaging	Het
Csmd1	A	T	8: 17,534,928	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,419,088	S769P	possibly damaging	Het
Diras1	T	A	10: 81,022,415	M1L	probably damaging	Het
Fam161b	A	G	12: 84,357,664	W81R	probably benign	Het
Fat4	A	T	3: 38,957,269	I2173L	probably benign	Het
Fbn2	T	C	18: 58,104,081	T617A	possibly damaging	Het
Gabrq	G	A	X: 72,836,833	D311N	probably benign	Het
Isl2	G	T	9: 55,545,462	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,428,612	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,837,148	M5378V	unknown	Het
Lrrc23	G	T	6: 124,778,819	D75E	probably benign	Het
Mab21l3	G	A	3: 101,835,130	T38M	probably benign	Het
Matn1	T	C	4: 130,950,011	I177T	possibly damaging	Het
Mtor	T	C	4: 148,453,037	S60P	probably benign	Het
Naip6	T	C	13: 100,304,438	E278G	probably benign	Het
Nsun6	T	C	2: 15,048,978	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,668,147	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627	Q188*	probably null	Het
Pom121	A	T	5: 135,391,706	V287D	unknown	Het
Ptprq	A	T	10: 107,686,218	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,188,317	T178A	probably benign	Het
Pygm	A	G	19: 6,391,394	N473S	probably benign	Het
Ros1	A	T	10: 52,120,809	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,941,328	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,694,006	S6P	possibly damaging	Het
Sgca	T	A	11: 94,972,287	Q80L	probably damaging	Het
Skint6	A	G	4: 112,804,682	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 132,056,816	N600K	probably benign	Het
Spata20	T	C	11: 94,483,395	T350A	probably benign	Het
Syne1	G	T	10: 5,344,921	Y1227*	probably null	Het
Unc13c	T	C	9: 73,933,197	Y124C	probably benign	Het
Usp40	G	A	1: 87,986,123	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,395,401	W116R	probably benign	Het
Vps4a	T	C	8: 107,039,219		probably benign	Het
Zfyve16	A	G	13: 92,492,522	V1469A	probably damaging	Het

Other mutations in Bnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Bnc1	APN	7	81974489	missense	probably damaging	0.99
IGL02064:Bnc1	APN	7	81973503	missense	probably benign	0.00
IGL02529:Bnc1	APN	7	81977368	missense	probably damaging	0.99
IGL03087:Bnc1	APN	7	81974642	missense	possibly damaging	0.86
R0088:Bnc1	UTSW	7	81978498	missense	possibly damaging	0.52
R0312:Bnc1	UTSW	7	81977324	missense	possibly damaging	0.95
R0631:Bnc1	UTSW	7	81974366	missense	probably damaging	0.99
R0924:Bnc1	UTSW	7	81978408	splice site	probably benign
R0928:Bnc1	UTSW	7	81973502	missense	probably benign
R1967:Bnc1	UTSW	7	81973636	missense	probably benign	0.03
R2243:Bnc1	UTSW	7	81974073	missense	possibly damaging	0.59
R2404:Bnc1	UTSW	7	81968715	missense	probably benign	0.08
R4079:Bnc1	UTSW	7	81973760	missense	probably damaging	0.99
R4416:Bnc1	UTSW	7	81968960	missense	probably benign
R5038:Bnc1	UTSW	7	81968714	missense	probably damaging	1.00
R5055:Bnc1	UTSW	7	81974415	missense	probably damaging	0.99
R7083:Bnc1	UTSW	7	81973310	missense	probably damaging	1.00
R7117:Bnc1	UTSW	7	81973361	missense	possibly damaging	0.92
R7151:Bnc1	UTSW	7	81973307	missense	possibly damaging	0.71
R7386:Bnc1	UTSW	7	81974492	missense	possibly damaging	0.81
R7950:Bnc1	UTSW	7	81973502	missense	probably benign
R8355:Bnc1	UTSW	7	81968876	missense	probably damaging	0.97
R8773:Bnc1	UTSW	7	81973971	missense	probably damaging	1.00
R9083:Bnc1	UTSW	7	81974898	missense	probably benign
Z1176:Bnc1	UTSW	7	81974542	missense	probably damaging	0.97
Z1177:Bnc1	UTSW	7	81968470	missense	probably damaging	0.97
Z1186:Bnc1	UTSW	7	81973259	missense	probably benign	0.00

Posted On

2013-06-21