Mutagenetix > Incidental Mutation

Incidental Mutation 'R4926:Bnc2'

379011

Institutional Source

Beutler Lab

Gene Symbol

Bnc2

Ensembl Gene

ENSMUSG00000028487

Gene Name

basonuclin zinc finger protein 2

Synonyms

8430420F16Rik, 5031434M05Rik

MMRRC Submission

042527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84193332-84593512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84194416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 110 (S110P)

Ref Sequence

ENSEMBL: ENSMUSP00000135607 (fasta)

Gene Model

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

AlphaFold

Q8BMQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000102820
AA Change: S998P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: S998P

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 damaging
Transcript: ENSMUST00000107198
AA Change: S970P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: S970P

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

probably damaging
Transcript: ENSMUST00000176691
AA Change: S903P

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: S903P

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 damaging
Transcript: ENSMUST00000176971
AA Change: S110P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135607
Gene: ENSMUSG00000028487
AA Change: S110P

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: 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

Meta Mutation Damage Score

0.1319

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,272,498 (GRCm39)	D136V	probably damaging	Het
Ankrd17	G	A	5: 90,447,891 (GRCm39)	R217W	probably damaging	Het
Ankrd23	A	T	1: 36,571,068 (GRCm39)	H102Q	probably damaging	Het
Arfip2	G	T	7: 105,287,151 (GRCm39)	R138S	probably damaging	Het
Arhgap27	A	T	11: 103,229,949 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,563 (GRCm39)	L1499P	probably damaging	Het
Ccdc171	T	C	4: 83,476,829 (GRCm39)		probably benign	Het
Ccdc7a	A	G	8: 129,706,535 (GRCm39)		probably benign	Het
Chd5	T	C	4: 152,467,768 (GRCm39)	S1689P	probably benign	Het
Corin	A	G	5: 72,529,525 (GRCm39)	C212R	probably damaging	Het
Cyp2c65	A	G	19: 39,049,597 (GRCm39)	I42V	probably benign	Het
Cyp3a25	G	A	5: 145,928,266 (GRCm39)	R260C	probably damaging	Het
Dock6	T	C	9: 21,757,087 (GRCm39)	Y116C	probably damaging	Het
Eif3a	A	G	19: 60,751,656 (GRCm39)		probably benign	Het
Epop	T	C	11: 97,519,143 (GRCm39)	D322G	probably damaging	Het
Eps8l3	T	A	3: 107,798,004 (GRCm39)		probably benign	Het
Exph5	T	C	9: 53,287,925 (GRCm39)	S1669P	possibly damaging	Het
Faah	A	T	4: 115,856,823 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,030,724 (GRCm39)	C453R	probably benign	Het
Fcgbp	T	A	7: 27,785,660 (GRCm39)	C366S	probably damaging	Het
Fmn2	A	G	1: 174,329,981 (GRCm39)	T124A	unknown	Het
Foxi3	C	T	6: 70,933,996 (GRCm39)	S161L	probably damaging	Het
Foxo3	A	T	10: 42,073,020 (GRCm39)	V499E	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Gm839	A	C	6: 89,189,581 (GRCm39)		noncoding transcript	Het
Gtf3c2	T	C	5: 31,326,467 (GRCm39)	E348G	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Hspa1l	A	G	17: 35,197,199 (GRCm39)	T413A	possibly damaging	Het
Hspg2	T	C	4: 137,269,841 (GRCm39)	Y2297H	probably damaging	Het
Ighv1-81	T	A	12: 115,884,093 (GRCm39)	I53L	probably benign	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrrc41	T	C	4: 115,946,521 (GRCm39)	V412A	possibly damaging	Het
Map4k4	A	T	1: 40,056,385 (GRCm39)	E1023D	probably damaging	Het
Mark3	T	A	12: 111,584,758 (GRCm39)	L118*	probably null	Het
Mrgpra9	T	A	7: 46,884,759 (GRCm39)	T303S	possibly damaging	Het
Mterf4	T	C	1: 93,232,647 (GRCm39)	E68G	probably benign	Het
Nckap5	A	C	1: 126,456,378 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,169 (GRCm39)	T339S	probably damaging	Het
Nrip2	A	C	6: 128,385,337 (GRCm39)	H256P	probably benign	Het
Oas1d	T	C	5: 121,053,831 (GRCm39)	V97A	probably benign	Het
Obox2	T	A	7: 15,131,102 (GRCm39)		probably null	Het
Opa1	T	C	16: 29,467,791 (GRCm39)	F989S	possibly damaging	Het
Or10g9	T	C	9: 39,912,319 (GRCm39)		probably null	Het
Padi1	T	A	4: 140,552,158 (GRCm39)	I429F	probably damaging	Het
Paics	A	G	5: 77,109,051 (GRCm39)	D163G	probably damaging	Het
Pik3c2b	G	T	1: 133,027,364 (GRCm39)	E1288*	probably null	Het
Prdm16	A	T	4: 154,426,009 (GRCm39)	V593D	possibly damaging	Het
Prpf39	A	G	12: 65,090,830 (GRCm39)	I165M	possibly damaging	Het
Pth2r	A	G	1: 65,361,143 (GRCm39)	T26A	probably benign	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Rab44	C	T	17: 29,358,529 (GRCm39)	A239V	probably benign	Het
Rtcb	T	C	10: 85,791,600 (GRCm39)	N52S	probably benign	Het
Sapcd2	T	A	2: 25,263,578 (GRCm39)		probably null	Het
Scaf11	T	C	15: 96,316,123 (GRCm39)	E1147G	possibly damaging	Het
Selenoo	T	C	15: 88,983,881 (GRCm39)	Y595H	probably damaging	Het
Slc2a5	G	T	4: 150,205,199 (GRCm39)	E3*	probably null	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sorbs2	A	G	8: 46,249,254 (GRCm39)	K755R	probably benign	Het
Sorbs3	G	T	14: 70,424,394 (GRCm39)	P513T	probably damaging	Het
Sowaha	T	A	11: 53,370,337 (GRCm39)	E133V	possibly damaging	Het
Srsf5	T	C	12: 80,994,075 (GRCm39)		probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tcp11l1	T	C	2: 104,512,130 (GRCm39)	I501V	probably benign	Het
Tert	A	G	13: 73,796,508 (GRCm39)	K1080E	possibly damaging	Het
Tescl	T	A	7: 24,033,323 (GRCm39)	M1L	possibly damaging	Het
Thop1	T	A	10: 80,909,201 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,210,618 (GRCm39)	H80R	probably damaging	Het
Toe1	C	T	4: 116,661,729 (GRCm39)	S480N	probably damaging	Het
Trap1	C	A	16: 3,863,352 (GRCm39)	V557F	probably benign	Het
Trim30d	T	C	7: 104,132,564 (GRCm39)	E91G	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttll8	C	A	15: 88,798,368 (GRCm39)	G789V	probably damaging	Het
Ulk4	A	G	9: 121,087,798 (GRCm39)	F298S	probably benign	Het
Wwc1	C	T	11: 35,780,227 (GRCm39)	A243T	probably benign	Het
Zfp248	A	C	6: 118,406,787 (GRCm39)	H267Q	possibly damaging	Het
Zfyve26	T	A	12: 79,321,785 (GRCm39)	M945L	probably benign	Het
Zup1	T	C	10: 33,825,434 (GRCm39)	D16G	probably damaging	Het

Other mutations in Bnc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Bnc2	APN	4	84,194,478 (GRCm39)	splice site	probably null
IGL01902:Bnc2	APN	4	84,309,181 (GRCm39)	missense	probably damaging	1.00
IGL02228:Bnc2	APN	4	84,211,313 (GRCm39)	missense	possibly damaging	0.70
IGL02396:Bnc2	APN	4	84,194,246 (GRCm39)	missense	probably benign	0.16
R0125:Bnc2	UTSW	4	84,211,169 (GRCm39)	missense	probably damaging	1.00
R0650:Bnc2	UTSW	4	84,211,433 (GRCm39)	missense	probably benign	0.04
R1082:Bnc2	UTSW	4	84,464,572 (GRCm39)	missense	probably damaging	1.00
R1334:Bnc2	UTSW	4	84,194,526 (GRCm39)	missense	possibly damaging	0.49
R1439:Bnc2	UTSW	4	84,194,305 (GRCm39)	missense	probably benign	0.38
R1447:Bnc2	UTSW	4	84,211,457 (GRCm39)	missense	probably benign	0.13
R1515:Bnc2	UTSW	4	84,332,563 (GRCm39)	missense	probably null	0.99
R1548:Bnc2	UTSW	4	84,194,194 (GRCm39)	missense	probably damaging	1.00
R1818:Bnc2	UTSW	4	84,210,111 (GRCm39)	missense	possibly damaging	0.70
R1819:Bnc2	UTSW	4	84,210,111 (GRCm39)	missense	possibly damaging	0.70
R2345:Bnc2	UTSW	4	84,210,740 (GRCm39)	missense	probably damaging	1.00
R2897:Bnc2	UTSW	4	84,211,152 (GRCm39)	missense	probably damaging	1.00
R2898:Bnc2	UTSW	4	84,211,152 (GRCm39)	missense	probably damaging	1.00
R2966:Bnc2	UTSW	4	84,211,754 (GRCm39)	missense	probably benign	0.14
R3404:Bnc2	UTSW	4	84,464,478 (GRCm39)	missense	probably damaging	0.98
R4235:Bnc2	UTSW	4	84,211,751 (GRCm39)	missense	probably damaging	0.96
R4546:Bnc2	UTSW	4	84,210,213 (GRCm39)	missense	probably benign	0.34
R4676:Bnc2	UTSW	4	84,211,056 (GRCm39)	missense	probably damaging	1.00
R5060:Bnc2	UTSW	4	84,449,872 (GRCm39)	missense	probably benign	0.02
R5365:Bnc2	UTSW	4	84,329,666 (GRCm39)	intron	probably benign
R5735:Bnc2	UTSW	4	84,210,908 (GRCm39)	missense	probably damaging	1.00
R5872:Bnc2	UTSW	4	84,211,007 (GRCm39)	missense	possibly damaging	0.86
R5921:Bnc2	UTSW	4	84,211,292 (GRCm39)	missense	possibly damaging	0.95
R5999:Bnc2	UTSW	4	84,474,137 (GRCm39)	missense	probably benign	0.20
R6351:Bnc2	UTSW	4	84,211,380 (GRCm39)	missense	probably benign	0.16
R6869:Bnc2	UTSW	4	84,211,733 (GRCm39)	missense	probably damaging	1.00
R7236:Bnc2	UTSW	4	84,474,101 (GRCm39)	missense	probably benign	0.31
R7363:Bnc2	UTSW	4	84,210,308 (GRCm39)	missense	probably benign	0.02
R7643:Bnc2	UTSW	4	84,424,811 (GRCm39)	missense	probably benign	0.01
R8017:Bnc2	UTSW	4	84,329,662 (GRCm39)	missense
R8019:Bnc2	UTSW	4	84,329,662 (GRCm39)	missense
R8050:Bnc2	UTSW	4	84,210,573 (GRCm39)	missense	probably benign	0.00
R8311:Bnc2	UTSW	4	84,194,582 (GRCm39)	missense	possibly damaging	0.69
R8463:Bnc2	UTSW	4	84,211,608 (GRCm39)	missense	probably damaging	0.99
R8676:Bnc2	UTSW	4	84,194,550 (GRCm39)	missense	possibly damaging	0.65
R8722:Bnc2	UTSW	4	84,211,883 (GRCm39)	missense	possibly damaging	0.92
R8845:Bnc2	UTSW	4	84,194,338 (GRCm39)	missense	possibly damaging	0.81
R8887:Bnc2	UTSW	4	84,209,707 (GRCm39)	intron	probably benign
R9051:Bnc2	UTSW	4	84,210,138 (GRCm39)	missense	probably benign	0.00
R9142:Bnc2	UTSW	4	84,474,111 (GRCm39)	missense	probably benign	0.03
R9165:Bnc2	UTSW	4	84,329,731 (GRCm39)	missense
R9297:Bnc2	UTSW	4	84,474,136 (GRCm39)	intron	probably benign
R9638:Bnc2	UTSW	4	84,332,492 (GRCm39)	missense	probably damaging	1.00
X0021:Bnc2	UTSW	4	84,211,377 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTCCCAGACAAACTGCTG -3'
(R):5'- GACATGAGCCTGGACTCATC -3'

Sequencing Primer
(F):5'- ACTGCTGAACATAAGAGATCCTG -3'
(R):5'- CAAGGACCTCCGGGATGAATTTTTG -3'

Posted On

2016-04-15