Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Bnc2'

695973

Institutional Source

Beutler Lab

Gene Symbol

Bnc2

Ensembl Gene

ENSMUSG00000028487

Gene Name

basonuclin zinc finger protein 2

Synonyms

8430420F16Rik, 5031434M05Rik

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84193332-84593512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84329731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 95 (L95Q)

Gene Model

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

AlphaFold

Q8BMQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000102820

SMART Domains

Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,357 (GRCm39)	I27V	probably benign	Het
A2ml1	T	A	6: 128,537,632 (GRCm39)	H693L	probably benign	Het
Acacb	A	G	5: 114,354,744 (GRCm39)	E1206G	probably benign	Het
Acoxl	A	G	2: 127,726,432 (GRCm39)	T269A	probably benign	Het
Ak9	A	G	10: 41,309,235 (GRCm39)	K1879R	unknown	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Bpifa2	G	T	2: 153,851,741 (GRCm39)	W59L	probably benign	Het
Cd209a	T	A	8: 3,795,602 (GRCm39)	Q156H	probably damaging	Het
Cep104	T	A	4: 154,078,971 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,608,925 (GRCm39)	*799R	probably null	Het
Csn2	A	T	5: 87,842,418 (GRCm39)	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,526,801 (GRCm39)	A872P	probably damaging	Het
Dlg5	C	A	14: 24,196,309 (GRCm39)	L1629F	probably damaging	Het
Dmxl1	A	G	18: 50,011,992 (GRCm39)	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,121,924 (GRCm39)	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,070,355 (GRCm39)	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883 (GRCm39)	V2425D	probably damaging	Het
Eif1ad11	A	G	12: 87,994,077 (GRCm39)	S102G	possibly damaging	Het
Eif2a	G	A	3: 58,452,695 (GRCm39)	R199Q	probably damaging	Het
F10	T	C	8: 13,089,564 (GRCm39)	F60L	probably benign	Het
Faf2	A	G	13: 54,799,951 (GRCm39)	I253V	probably benign	Het
Flt1	T	A	5: 147,552,047 (GRCm39)	S715C	probably damaging	Het
Garin4	A	G	1: 190,895,258 (GRCm39)	S462P	probably benign	Het
Gm5150	G	T	3: 16,045,060 (GRCm39)	T55K	probably damaging	Het
Gria1	T	C	11: 57,076,759 (GRCm39)	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,103,271 (GRCm39)	Q505R	probably benign	Het
Gzma	A	T	13: 113,237,455 (GRCm39)	S11T	probably benign	Het
Hoxa6	G	A	6: 52,185,535 (GRCm39)	Q24*	probably null	Het
Kcnj14	T	A	7: 45,469,068 (GRCm39)	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,756,605 (GRCm39)	R149H	probably damaging	Het
Lama2	A	G	10: 26,929,022 (GRCm39)		probably null	Het
Lama5	C	A	2: 179,821,286 (GRCm39)	R3092L	probably damaging	Het
Lca5l	T	A	16: 95,977,218 (GRCm39)	N196I	probably damaging	Het
Lig4	A	G	8: 10,022,394 (GRCm39)	L462S	probably damaging	Het
Nbea	A	T	3: 55,912,289 (GRCm39)	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,017,465 (GRCm39)	F401Y	probably benign	Het
Or10ak12	T	A	4: 118,666,195 (GRCm39)	R289*	probably null	Het
Or14c43	A	T	7: 86,114,825 (GRCm39)	M69L	probably benign	Het
Or4e5	A	G	14: 52,727,830 (GRCm39)	I197T	possibly damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Otop3	A	C	11: 115,235,424 (GRCm39)	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,200,375 (GRCm39)	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,743,825 (GRCm39)	V497F	possibly damaging	Het
Pnma2	G	A	14: 67,154,572 (GRCm39)	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,162,045 (GRCm39)	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prdm2	A	G	4: 142,858,674 (GRCm39)	S1539P	possibly damaging	Het
Ptger2	A	G	14: 45,227,235 (GRCm39)	T272A	probably damaging	Het
Qser1	T	C	2: 104,618,815 (GRCm39)	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Sacm1l	G	T	9: 123,398,021 (GRCm39)	V238L	probably damaging	Het
Sanbr	T	C	11: 23,565,244 (GRCm39)	I248V	probably benign	Het
Sec16a	C	T	2: 26,313,645 (GRCm39)	G454D		Het
Sil1	A	G	18: 35,450,899 (GRCm39)	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,639,964 (GRCm39)	L16P	probably damaging	Het
Slc22a20	A	T	19: 6,032,879 (GRCm39)	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,666,676 (GRCm39)	R580L	probably benign	Het
Ssr3	A	G	3: 65,290,521 (GRCm39)	V128A	probably damaging	Het
Stpg2	G	T	3: 139,014,993 (GRCm39)	S386I	possibly damaging	Het
Taar8c	C	A	10: 23,977,500 (GRCm39)	C104F	probably damaging	Het
Tex2	T	C	11: 106,458,095 (GRCm39)	E445G	unknown	Het
Tmem253	A	C	14: 52,256,099 (GRCm39)	D126A	probably benign	Het
Tox4	A	G	14: 52,523,247 (GRCm39)	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,788,501 (GRCm39)	S254C	probably benign	Het
Trmt12	T	G	15: 58,745,594 (GRCm39)	S331A	probably benign	Het
Ttn	A	G	2: 76,543,350 (GRCm39)	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,387,734 (GRCm39)	E431K	unknown	Het
Ugt1a10	A	T	1: 87,983,509 (GRCm39)	E102D	probably benign	Het
Unc80	A	T	1: 66,589,000 (GRCm39)	E1055V	probably null	Het
Vav1	C	A	17: 57,618,895 (GRCm39)	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,409,246 (GRCm39)	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,709,054 (GRCm39)	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,412,951 (GRCm39)		probably benign	Het
Vps33b	G	A	7: 79,924,434 (GRCm39)		probably null	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Xirp1	G	A	9: 119,847,302 (GRCm39)	T527M	probably benign	Het
Ylpm1	T	A	12: 85,077,342 (GRCm39)	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,428,024 (GRCm39)	Y251F	possibly damaging	Het
Zmym2	A	T	14: 57,185,464 (GRCm39)	Y1032F	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
R4926:Bnc2	UTSW	4	84,194,416 (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
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'- TTGTGTACATACAGAGACATGCAC -3'
(R):5'- GGTTTGCAAAGCCTACCCTTC -3'

Sequencing Primer
(F):5'- GTACATACAGAGACATGCACATATG -3'
(R):5'- CCTTCATTAGGGCAAGTATGACAG -3'

Posted On

2022-02-07