Mutagenetix > Incidental Mutations

Incidental Mutation 'R7643:Bnc2'

590340

Institutional Source

Beutler Lab

Gene Symbol

Bnc2

Ensembl Gene

ENSMUSG00000028487

Gene Name

basonuclin 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84275095-84675275 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84506574 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

Ref Sequence

ENSEMBL: ENSMUSP00000099884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102820] [ENSMUST00000107198] [ENSMUST00000175756] [ENSMUST00000175800] [ENSMUST00000175969] [ENSMUST00000176346] [ENSMUST00000176418] [ENSMUST00000176612] [ENSMUST00000176691] [ENSMUST00000176947]

Predicted Effect

probably benign
Transcript: ENSMUST00000102820
AA Change: D123G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: D123G

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

SMART Domains

Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487

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

probably benign
Transcript: ENSMUST00000175756
AA Change: D14G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000175800

SMART Domains

Protein: ENSMUSP00000134795
Gene: ENSMUSG00000028487

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: ENSMUST00000176346

SMART Domains

Protein: ENSMUSP00000134942
Gene: ENSMUSG00000028487

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176418

SMART Domains

Protein: ENSMUSP00000135569
Gene: ENSMUSG00000028487

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176612

SMART Domains

Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487

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

SMART Domains

Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487

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: ENSMUST00000176947
AA Change: D81G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177040

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	A	G	16: 38,827,863	Y295H	probably benign	Het
4931406C07Rik	A	G	9: 15,297,860	F46S	probably damaging	Het
Acaca	T	C	11: 84,338,356	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,053,832	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,593,568	Q1050L	probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,473,085	V395A	probably benign	Het
Ap3b2	T	C	7: 81,477,072	K310R	probably benign	Het
Bst1	G	A	5: 43,840,449	M263I	probably benign	Het
Ccdc7a	C	T	8: 128,889,811	G937E	probably damaging	Het
Cep290	A	G	10: 100,537,553	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,553,585	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,602,813	H1203L	probably benign	Het
Emc7	A	G	2: 112,455,279	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,421,935		probably benign	Het
Fam83c	A	G	2: 155,831,004	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,200,225	V180L	probably benign	Het
Gbp2b	G	T	3: 142,603,609	Q160H	probably benign	Het
Gm19965	C	G	1: 116,822,229	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gon4l	T	A	3: 88,902,807	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,717,816	Y303*	probably null	Het
Greb1	T	C	12: 16,711,996	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950	N36S	probably benign	Het
Hacd1	T	C	2: 14,044,791	I119V	probably damaging	Het
Ing5	T	A	1: 93,812,433	D101E	probably damaging	Het
Irak4	T	A	15: 94,558,828	N297K	probably benign	Het
Itga7	A	G	10: 128,953,501	D971G	probably benign	Het
Klf5	A	G	14: 99,313,178	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,978,198	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,020,527		probably null	Het
March4	T	G	1: 72,447,220	Q266H	probably damaging	Het
Med23	A	G	10: 24,905,965	T1056A	probably benign	Het
Megf11	T	C	9: 64,706,632	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,346,265	L85I	probably benign	Het
Nlgn2	G	T	11: 69,827,885	Q290K	probably damaging	Het
Nox4	A	T	7: 87,323,754	E323V	probably damaging	Het
Nup93	T	C	8: 94,286,619		probably null	Het
Olfr298	C	T	7: 86,489,568		probably null	Het
Olfr558	C	T	7: 102,709,538	T93I	probably benign	Het
Olfr977-ps1	T	A	9: 39,974,821	M1L	unknown	Het
Otop3	T	C	11: 115,339,648	L117P	probably damaging	Het
Pde6c	C	A	19: 38,141,421	Q260K	probably damaging	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Qser1	A	T	2: 104,786,977	Y1163*	probably null	Het
Rbm12	A	T	2: 156,098,217	I45N	unknown	Het
Rictor	T	A	15: 6,769,269	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325	S83*	probably null	Het
Sel1l3	C	T	5: 53,123,162		probably null	Het
Setd2	T	C	9: 110,567,840		probably null	Het
Spink5	A	G	18: 44,010,252	T759A	probably benign	Het
Spon2	T	A	5: 33,217,456	E2V	probably benign	Het
Tdrd1	T	C	19: 56,837,708	S144P	probably damaging	Het
Tex15	A	C	8: 33,575,120	Y1526S	probably damaging	Het
Tnfrsf21	T	C	17: 43,037,916	S140P	probably benign	Het
Trav6-2	T	A	14: 52,667,442	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,247,814		probably null	Het
Ttn	T	C	2: 76,734,827	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,573,106	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333	S211T	probably benign	Het
Zcchc4	T	C	5: 52,808,293	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,512,734	R1811K	probably benign	Het
Zfp599	G	T	9: 22,249,892	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,309,525	M108K	probably damaging	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
R4235:Bnc2	UTSW	4	84293514	missense	probably damaging	0.96
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
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
R8463:Bnc2	UTSW	4	84293371	missense	probably damaging	0.99
R8676:Bnc2	UTSW	4	84276313	missense	possibly damaging	0.65
R8722:Bnc2	UTSW	4	84293646	missense	possibly damaging	0.92
X0021:Bnc2	UTSW	4	84293140	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAACCAGGCGTCAGAGATC -3'
(R):5'- AGCAATGTCAAATATGTGTCAGTCC -3'

Sequencing Primer
(F):5'- CAGGCGTCAGAGATCAGGATTTTTC -3'
(R):5'- CAAATATGTGTCAGTCCATCATGGCC -3'

Posted On

2019-10-24