Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Bnc1'

326840

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin 1

Synonyms

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81966672-81992292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81968960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 786 (H786N)

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: H786N

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

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: H786N

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574 (GRCm38)	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423 (GRCm38)	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082 (GRCm38)		probably null	Het
Cav1	T	A	6: 17,339,249 (GRCm38)	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072 (GRCm38)	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999 (GRCm38)	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259 (GRCm38)	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194 (GRCm38)	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397 (GRCm38)		probably null	Het
Fbxl6	T	C	15: 76,537,724 (GRCm38)	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249 (GRCm38)	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288 (GRCm38)	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619 (GRCm38)	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461 (GRCm38)	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272 (GRCm38)	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590 (GRCm38)		probably null	Het
Hivep2	A	T	10: 14,129,170 (GRCm38)	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690 (GRCm38)	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917 (GRCm38)	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246 (GRCm38)	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667 (GRCm38)	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231 (GRCm38)	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726 (GRCm38)	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229 (GRCm38)		probably null	Het
Oit3	T	C	10: 59,428,103 (GRCm38)	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011 (GRCm38)	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957 (GRCm38)	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428 (GRCm38)	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396 (GRCm38)	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580 (GRCm38)	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530 (GRCm38)	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057 (GRCm38)		probably null	Het
Rab3gap2	A	T	1: 185,282,347 (GRCm38)	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057 (GRCm38)	G1481*	probably null	Het
Rho	G	A	6: 115,935,230 (GRCm38)	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801 (GRCm38)	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429 (GRCm38)	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411 (GRCm38)	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569 (GRCm38)	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576 (GRCm38)	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902 (GRCm38)	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988 (GRCm38)	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874 (GRCm38)	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185 (GRCm38)	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948 (GRCm38)	S91A	probably benign	Het

Other mutations in Bnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Bnc1	APN	7	81,973,707 (GRCm38)	nonsense	probably null
IGL01293:Bnc1	APN	7	81,974,489 (GRCm38)	missense	probably damaging	0.99
IGL02064:Bnc1	APN	7	81,973,503 (GRCm38)	missense	probably benign	0.00
IGL02529:Bnc1	APN	7	81,977,368 (GRCm38)	missense	probably damaging	0.99
IGL03087:Bnc1	APN	7	81,974,642 (GRCm38)	missense	possibly damaging	0.86
R0088:Bnc1	UTSW	7	81,978,498 (GRCm38)	missense	possibly damaging	0.52
R0312:Bnc1	UTSW	7	81,977,324 (GRCm38)	missense	possibly damaging	0.95
R0631:Bnc1	UTSW	7	81,974,366 (GRCm38)	missense	probably damaging	0.99
R0924:Bnc1	UTSW	7	81,978,408 (GRCm38)	splice site	probably benign
R0928:Bnc1	UTSW	7	81,973,502 (GRCm38)	missense	probably benign
R1967:Bnc1	UTSW	7	81,973,636 (GRCm38)	missense	probably benign	0.03
R2243:Bnc1	UTSW	7	81,974,073 (GRCm38)	missense	possibly damaging	0.59
R2404:Bnc1	UTSW	7	81,968,715 (GRCm38)	missense	probably benign	0.08
R4079:Bnc1	UTSW	7	81,973,760 (GRCm38)	missense	probably damaging	0.99
R5038:Bnc1	UTSW	7	81,968,714 (GRCm38)	missense	probably damaging	1.00
R5055:Bnc1	UTSW	7	81,974,415 (GRCm38)	missense	probably damaging	0.99
R7083:Bnc1	UTSW	7	81,973,310 (GRCm38)	missense	probably damaging	1.00
R7117:Bnc1	UTSW	7	81,973,361 (GRCm38)	missense	possibly damaging	0.92
R7151:Bnc1	UTSW	7	81,973,307 (GRCm38)	missense	possibly damaging	0.71
R7386:Bnc1	UTSW	7	81,974,492 (GRCm38)	missense	possibly damaging	0.81
R7950:Bnc1	UTSW	7	81,973,502 (GRCm38)	missense	probably benign
R8355:Bnc1	UTSW	7	81,968,876 (GRCm38)	missense	probably damaging	0.97
R8773:Bnc1	UTSW	7	81,973,971 (GRCm38)	missense	probably damaging	1.00
R9083:Bnc1	UTSW	7	81,974,898 (GRCm38)	missense	probably benign
Z1176:Bnc1	UTSW	7	81,974,542 (GRCm38)	missense	probably damaging	0.97
Z1177:Bnc1	UTSW	7	81,968,470 (GRCm38)	missense	probably damaging	0.97
Z1186:Bnc1	UTSW	7	81,973,259 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAATCCAGGATGGTGCCCTC -3'
(R):5'- TTAACCCTGGCTGTGACTCC -3'

Sequencing Primer
(F):5'- AGGATGGTGCCCTCGCTAG -3'
(R):5'- TGTGACTCCCGCCACAC -3'

Posted On

2015-07-07