Mutagenetix > Incidental Mutations

Incidental Mutation 'R8676:Bnc2'

661369

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 #

R8676 (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 84276313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 858 (H858R)

Ref Sequence

ENSEMBL: ENSMUSP00000135375 (fasta)

Gene Model

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

AlphaFold

Q8BMQ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102820
AA Change: H953R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: H953R

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

possibly damaging
Transcript: ENSMUST00000107198
AA Change: H925R

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: H925R

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: 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 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

possibly damaging
Transcript: ENSMUST00000176691
AA Change: H858R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: H858R

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

SMART Domains

Protein: ENSMUSP00000134774
Gene: ENSMUSG00000028487
AA Change: H218R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176971
AA Change: H65R

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135607
Gene: ENSMUSG00000028487
AA Change: H65R

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

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: ENSMUST00000177277

Coding Region Coverage

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

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	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
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
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
R8463:Bnc2	UTSW	4	84293371	missense	probably damaging	0.99
R8722:Bnc2	UTSW	4	84293646	missense	possibly damaging	0.92
R8845:Bnc2	UTSW	4	84276101	missense	possibly damaging	0.81
R8887:Bnc2	UTSW	4	84291470	intron	probably benign
R9051:Bnc2	UTSW	4	84291901	missense	probably benign	0.00
R9142:Bnc2	UTSW	4	84555874	missense	probably benign	0.03
R9165:Bnc2	UTSW	4	84411494	missense
X0021:Bnc2	UTSW	4	84293140	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGGACTCTCTGGAGGAATG -3'
(R):5'- ACTCCCAGATCCTGAGGATG -3'

Sequencing Primer
(F):5'- CTCTCTGGAGGAATGGACACTG -3'
(R):5'- ATGGTGTAATTAGGAATGAATGTGC -3'

Posted On

2021-03-08