Mutagenetix > Incidental Mutations

Incidental Mutation 'R4235:Bnc2'

321055

Institutional Source

Beutler Lab

Gene Symbol

Bnc2

Ensembl Gene

ENSMUSG00000028487

Gene Name

basonuclin 2

Synonyms

MMRRC Submission

041052-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4235 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84275095-84675275 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84293514 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 231 (V231A)

Ref Sequence

ENSEMBL: ENSMUSP00000135778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102820] [ENSMUST00000107198] [ENSMUST00000175800] [ENSMUST00000175969] [ENSMUST00000176418] [ENSMUST00000176601] [ENSMUST00000176612] [ENSMUST00000176691] [ENSMUST00000176947] [ENSMUST00000176998] [ENSMUST00000176971]

Predicted Effect

probably benign
Transcript: ENSMUST00000102820
AA Change: V301A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: V301A

Domain	Start	End	E-Value	Type
low complexity region	362	378	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
ZnF_C2H2	469	492	4.72e-2	SMART
ZnF_C2H2	497	526	7.11e0	SMART
low complexity region	612	629	N/A	INTRINSIC
low complexity region	633	642	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
ZnF_C2H2	861	884	1.62e0	SMART
ZnF_C2H2	889	916	4.81e0	SMART
low complexity region	991	1008	N/A	INTRINSIC
low complexity region	1048	1062	N/A	INTRINSIC
ZnF_C2H2	1063	1086	1.03e-2	SMART
ZnF_C2H2	1091	1118	3.78e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107198
AA Change: V273A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: V273A

Domain	Start	End	E-Value	Type
low complexity region	334	350	N/A	INTRINSIC
low complexity region	361	372	N/A	INTRINSIC
ZnF_C2H2	441	464	4.72e-2	SMART
ZnF_C2H2	469	498	7.11e0	SMART
low complexity region	584	601	N/A	INTRINSIC
low complexity region	605	614	N/A	INTRINSIC
low complexity region	648	662	N/A	INTRINSIC
ZnF_C2H2	833	856	1.62e0	SMART
ZnF_C2H2	861	888	4.81e0	SMART
low complexity region	963	980	N/A	INTRINSIC
low complexity region	1020	1034	N/A	INTRINSIC
ZnF_C2H2	1035	1058	1.03e-2	SMART
ZnF_C2H2	1063	1090	3.78e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175757

Predicted Effect

probably benign
Transcript: ENSMUST00000175800
AA Change: V195A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134795
Gene: ENSMUSG00000028487
AA Change: V195A

Domain	Start	End	E-Value	Type
low complexity region	256	272	N/A	INTRINSIC
low complexity region	283	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175969

Predicted Effect

probably benign
Transcript: ENSMUST00000176418
AA Change: V306A

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135569
Gene: ENSMUSG00000028487
AA Change: V306A

Domain	Start	End	E-Value	Type
low complexity region	367	383	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176476

Predicted Effect

probably benign
Transcript: ENSMUST00000176601

SMART Domains

Protein: ENSMUSP00000135480
Gene: ENSMUSG00000028487

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	35	1.62e0	SMART
low complexity region	53	67	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176612
AA Change: V231A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: V231A

Domain	Start	End	E-Value	Type
low complexity region	292	308	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC
ZnF_C2H2	399	422	4.72e-2	SMART
ZnF_C2H2	427	456	7.11e0	SMART
low complexity region	542	559	N/A	INTRINSIC
low complexity region	563	572	N/A	INTRINSIC
low complexity region	606	620	N/A	INTRINSIC
ZnF_C2H2	791	814	1.62e0	SMART
low complexity region	832	846	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176691
AA Change: V206A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: V206A

Domain	Start	End	E-Value	Type
low complexity region	267	283	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
ZnF_C2H2	374	397	4.72e-2	SMART
ZnF_C2H2	402	431	7.11e0	SMART
low complexity region	517	534	N/A	INTRINSIC
low complexity region	538	547	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
ZnF_C2H2	766	789	1.62e0	SMART
ZnF_C2H2	794	821	4.81e0	SMART
low complexity region	896	913	N/A	INTRINSIC
low complexity region	953	967	N/A	INTRINSIC
ZnF_C2H2	968	991	1.03e-2	SMART
ZnF_C2H2	996	1023	3.78e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176702

SMART Domains

Protein: ENSMUSP00000134774
Gene: ENSMUSG00000028487

Domain	Start	End	E-Value	Type
ZnF_C2H2	105	128	1.62e0	SMART
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176947

Predicted Effect

probably benign
Transcript: ENSMUST00000177277

Predicted Effect

probably benign
Transcript: ENSMUST00000176998

SMART Domains

Protein: ENSMUSP00000135283
Gene: ENSMUSG00000028487

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	35	1.62e0	SMART
low complexity region	53	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176971

SMART Domains

Protein: ENSMUSP00000135607
Gene: ENSMUSG00000028487

Domain	Start	End	E-Value	Type
ZnF_C2H2	3	28	1.98e2	SMART
low complexity region	103	120	N/A	INTRINSIC
low complexity region	160	174	N/A	INTRINSIC
ZnF_C2H2	175	198	1.03e-2	SMART
ZnF_C2H2	203	230	3.78e-1	SMART

Meta Mutation Damage Score

0.1701

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap insertion die within 24 hrs of birth and display cleft palate, an overall size reduction of the head and tongue, and abnormal craniofacial bone development due to impaired multiplication of embryonic craniofacial mesenchymal cells. [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
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
5730596B20Rik	G	T	6: 52,178,961		probably benign	Het
9530053A07Rik	T	A	7: 28,156,648	D1953E	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atp7b	A	G	8: 22,011,023	Y955H	possibly damaging	Het
Bod1l	A	G	5: 41,821,455	S839P	probably damaging	Het
Casp8	T	A	1: 58,833,698	H264Q	possibly damaging	Het
Cc2d1b	A	T	4: 108,625,352		probably benign	Het
Cpne6	A	T	14: 55,513,600		probably benign	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dgkd	T	A	1: 87,931,982	L774*	probably null	Het
Fbxl2	T	A	9: 113,989,163	N205I	probably benign	Het
Fkbp15	A	T	4: 62,336,456	I269K	probably benign	Het
Gm13023	G	C	4: 143,794,774	C320S	probably damaging	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Has1	G	T	17: 17,850,036	R208S	possibly damaging	Het
Hecw1	C	G	13: 14,317,139	A423P	probably benign	Het
Hspa12b	T	C	2: 131,139,012	V162A	probably benign	Het
Ifi208	T	G	1: 173,682,911	S211A	probably benign	Het
Ighv6-3	T	C	12: 114,391,874	E65G	probably damaging	Het
Igkv9-120	A	T	6: 68,050,333	D77V	probably benign	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kdm2a	A	G	19: 4,322,521	I932T	probably damaging	Het
Krt17	T	C	11: 100,257,868	T279A	possibly damaging	Het
Lamp1	T	C	8: 13,167,192	V67A	possibly damaging	Het
Limk1	T	C	5: 134,670,478	I142V	probably benign	Het
Mamdc2	T	C	19: 23,374,017	N182D	possibly damaging	Het
Mcpt1	G	A	14: 56,018,560		probably null	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mfsd10	G	T	5: 34,635,625	T44N	probably damaging	Het
Mrps27	T	C	13: 99,405,041	S218P	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Neil2	A	C	14: 63,191,841	M1R	probably null	Het
Nelfcd	T	C	2: 174,427,048	F587L	probably damaging	Het
Nfil3	T	C	13: 52,968,799	D23G	probably benign	Het
Nit2	T	C	16: 57,157,160	K169R	probably benign	Het
Nxt1	T	C	2: 148,675,347	S3P	probably benign	Het
Ogt	A	G	X: 101,667,525	N434D	probably damaging	Het
Olfr679	T	A	7: 105,085,787	S24T	possibly damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rsl1	T	C	13: 67,177,162		probably null	Het
Sobp	G	A	10: 43,022,900	H230Y	probably damaging	Het
Sptan1	A	G	2: 30,026,588	E2096G	probably damaging	Het
Tie1	G	T	4: 118,478,405	S797*	probably null	Het
Tmem266	T	C	9: 55,418,107	I186T	probably damaging	Het
Tmem38b	T	C	4: 53,840,710	C66R	probably damaging	Het
Tnfaip6	T	C	2: 52,050,864	F139S	probably damaging	Het
Tnrc6a	T	C	7: 123,171,680	S898P	probably benign	Het
Trim24	A	G	6: 37,964,740	D911G	probably damaging	Het
Tyw5	T	C	1: 57,388,488		probably benign	Het
Ubr3	C	T	2: 70,016,385	Q1651*	probably null	Het
Unc13c	T	A	9: 73,530,952	I1943F	possibly damaging	Het
Usp47	T	A	7: 112,110,048	S1334T	probably damaging	Het
Vmn1r215	T	A	13: 23,075,931	V47E	probably benign	Het
Vmn1r224	T	A	17: 20,419,362	M67K	possibly damaging	Het
Wdfy3	T	A	5: 101,922,634		probably null	Het
Zfc3h1	T	C	10: 115,418,799	Y1433H	probably benign	Het

Other mutations in Bnc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Bnc2	APN	4	84276241	splice site	probably null
IGL01902:Bnc2	APN	4	84390944	missense	probably damaging	1.00
IGL02228:Bnc2	APN	4	84293076	missense	possibly damaging	0.70
IGL02396:Bnc2	APN	4	84276009	missense	probably benign	0.16
R0125:Bnc2	UTSW	4	84292932	missense	probably damaging	1.00
R0650:Bnc2	UTSW	4	84293196	missense	probably benign	0.04
R1082:Bnc2	UTSW	4	84546335	missense	probably damaging	1.00
R1334:Bnc2	UTSW	4	84276289	missense	possibly damaging	0.49
R1439:Bnc2	UTSW	4	84276068	missense	probably benign	0.38
R1447:Bnc2	UTSW	4	84293220	missense	probably benign	0.13
R1515:Bnc2	UTSW	4	84414326	missense	probably null	0.99
R1548:Bnc2	UTSW	4	84275957	missense	probably damaging	1.00
R1818:Bnc2	UTSW	4	84291874	missense	possibly damaging	0.70
R1819:Bnc2	UTSW	4	84291874	missense	possibly damaging	0.70
R2345:Bnc2	UTSW	4	84292503	missense	probably damaging	1.00
R2897:Bnc2	UTSW	4	84292915	missense	probably damaging	1.00
R2898:Bnc2	UTSW	4	84292915	missense	probably damaging	1.00
R2966:Bnc2	UTSW	4	84293517	missense	probably benign	0.14
R3404:Bnc2	UTSW	4	84546241	missense	probably damaging	0.98
R4546:Bnc2	UTSW	4	84291976	missense	probably benign	0.34
R4676:Bnc2	UTSW	4	84292819	missense	probably damaging	1.00
R4926:Bnc2	UTSW	4	84276179	missense	probably damaging	1.00
R5060:Bnc2	UTSW	4	84531635	missense	probably benign	0.02
R5365:Bnc2	UTSW	4	84411429	intron	probably benign
R5735:Bnc2	UTSW	4	84292671	missense	probably damaging	1.00
R5872:Bnc2	UTSW	4	84292770	missense	possibly damaging	0.86
R5921:Bnc2	UTSW	4	84293055	missense	possibly damaging	0.95
R5999:Bnc2	UTSW	4	84555900	missense	probably benign	0.20
R6351:Bnc2	UTSW	4	84293143	missense	probably benign	0.16
R6869:Bnc2	UTSW	4	84293496	missense	probably damaging	1.00
R7236:Bnc2	UTSW	4	84555864	missense	probably benign	0.31
R7363:Bnc2	UTSW	4	84292071	missense	probably benign	0.02
R7643:Bnc2	UTSW	4	84506574	missense	probably benign	0.01
R8017:Bnc2	UTSW	4	84411425	missense
R8019:Bnc2	UTSW	4	84411425	missense
R8050:Bnc2	UTSW	4	84292336	missense	probably benign	0.00
R8311:Bnc2	UTSW	4	84276345	missense	possibly damaging	0.69
X0021:Bnc2	UTSW	4	84293140	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGTTTATATACTGGAATGGAAGC -3'
(R):5'- TGGCAGAGCACCTTCAGTTG -3'

Sequencing Primer
(F):5'- CAGAAATGCAAGGCTGTTTGGTATG -3'
(R):5'- CAGAGCACCTTCAGTTGCATTGAG -3'

Posted On

2015-06-12