Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Bnc2'

514227

Institutional Source

Beutler Lab

Gene Symbol

Bnc2

Ensembl Gene

ENSMUSG00000028487

Gene Name

basonuclin zinc finger protein 2

Synonyms

8430420F16Rik, 5031434M05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84193332-84593512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84211380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 397 (T397A)

Ref Sequence

ENSEMBL: ENSMUSP00000102816 (fasta)

Gene Model

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

AlphaFold

Q8BMQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000102820
AA Change: T425A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: T425A

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: T397A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: T397A

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

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: 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

noncoding transcript
Transcript: ENSMUST00000176476

Predicted Effect

probably benign
Transcript: ENSMUST00000176691
AA Change: T330A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: T330A

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: ENSMUST00000176612
AA Change: T355A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: T355A

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: 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

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: 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: 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: ENSMUST00000177277

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	C	A	9: 119,170,630 (GRCm39)	S17*	probably null	Het
Adamts16	T	A	13: 70,984,322 (GRCm39)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,896,724 (GRCm39)	V50A	probably benign	Het
Agrn	T	C	4: 156,263,891 (GRCm39)	N124S	probably benign	Het
Ak8	T	C	2: 28,625,638 (GRCm39)	I227T	probably benign	Het
Akap6	A	G	12: 53,188,808 (GRCm39)	E2074G	probably damaging	Het
Apc	T	A	18: 34,445,265 (GRCm39)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,596,769 (GRCm39)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,533,698 (GRCm39)	F318I	probably damaging	Het
Bltp1	G	A	3: 36,962,377 (GRCm39)	A493T	probably damaging	Het
Bpifb4	C	T	2: 153,799,054 (GRCm39)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,777,323 (GRCm39)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,874,589 (GRCm39)	H887R	probably benign	Het
Clcn6	C	T	4: 148,101,957 (GRCm39)	V376I	probably benign	Het
Cntln	T	G	4: 85,033,591 (GRCm39)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,799,928 (GRCm39)	D1564G	probably benign	Het
Cux1	A	T	5: 136,338,646 (GRCm39)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,569,248 (GRCm39)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,219,826 (GRCm39)	F781L	probably damaging	Het
Dsc3	G	T	18: 20,099,348 (GRCm39)	H723N	probably benign	Het
Ear10	A	T	14: 44,160,512 (GRCm39)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,077,231 (GRCm39)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,097,155 (GRCm39)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,897,188 (GRCm39)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,203,633 (GRCm39)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,839,623 (GRCm39)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,677,024 (GRCm39)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,486,532 (GRCm39)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,823,028 (GRCm39)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,063,528 (GRCm39)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,475,464 (GRCm39)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm39)	Q44*	probably null	Het
Gpc5	A	T	14: 115,636,612 (GRCm39)	T432S	probably benign	Het
Grhl1	G	A	12: 24,634,857 (GRCm39)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,708 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints9	A	G	14: 65,230,456 (GRCm39)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,302,850 (GRCm39)	N130I	probably damaging	Het
Krba1	T	C	6: 48,391,062 (GRCm39)	V717A	probably benign	Het
Lrp12	T	A	15: 39,741,584 (GRCm39)	D377V	probably damaging	Het
Magi1	G	T	6: 93,920,210 (GRCm39)	D135E	possibly damaging	Het
Map10	T	A	8: 126,397,984 (GRCm39)	L459Q	probably damaging	Het
Mitf	A	G	6: 97,980,873 (GRCm39)	D238G	possibly damaging	Het
Ms4a19	C	T	19: 11,119,765 (GRCm39)	G14D	probably damaging	Het
Mylk	G	T	16: 34,742,341 (GRCm39)	R951L	probably benign	Het
Nacad	T	A	11: 6,549,235 (GRCm39)	D1272V	probably damaging	Het
Nacad	T	A	11: 6,550,165 (GRCm39)	K1009*	probably null	Het
Ncor1	T	C	11: 62,264,124 (GRCm39)	D786G	probably benign	Het
Oas2	G	A	5: 120,886,603 (GRCm39)	R188C	probably benign	Het
Odf2l	A	G	3: 144,841,479 (GRCm39)	I300V	probably benign	Het
Or1j10	T	A	2: 36,267,208 (GRCm39)	V140D	possibly damaging	Het
Or51b17	A	T	7: 103,542,342 (GRCm39)	L200*	probably null	Het
Or51v8	A	G	7: 103,320,163 (GRCm39)	I25T	possibly damaging	Het
Or5p60	A	G	7: 107,723,637 (GRCm39)	S278P	probably damaging	Het
Or9i1	A	G	19: 13,839,186 (GRCm39)	T10A	probably benign	Het
Pes1	T	A	11: 3,928,865 (GRCm39)	D574E	probably benign	Het
Phf20	C	T	2: 156,136,130 (GRCm39)	R650C	possibly damaging	Het
Pias4	G	A	10: 80,993,098 (GRCm39)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,282,175 (GRCm39)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,250,033 (GRCm39)		probably null	Het
Plekha7	A	G	7: 115,776,133 (GRCm39)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,041,973 (GRCm39)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 24,901,576 (GRCm39)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,521,313 (GRCm39)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,544,529 (GRCm39)	T334S	probably damaging	Het
Rab39	T	C	9: 53,597,821 (GRCm39)	D148G	probably benign	Het
Reep3	A	T	10: 66,870,432 (GRCm39)	F121L	probably benign	Het
Reln	G	T	5: 22,106,661 (GRCm39)	C3236*	probably null	Het
Rrp8	C	T	7: 105,384,016 (GRCm39)	C162Y	probably damaging	Het
Scrib	C	A	15: 75,936,835 (GRCm39)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,189,224 (GRCm39)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,190,263 (GRCm39)	V63A	possibly damaging	Het
Shoc1	T	C	4: 59,069,317 (GRCm39)	D703G	probably benign	Het
Slc46a1	T	C	11: 78,357,985 (GRCm39)	M346T	probably benign	Het
Sycp2	A	G	2: 178,005,209 (GRCm39)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,750,505 (GRCm39)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,319,828 (GRCm39)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,035,164 (GRCm39)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 70,010,850 (GRCm39)	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439 (GRCm39)	T455A	probably benign	Het
Tox	T	C	4: 6,741,536 (GRCm39)	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,100,426 (GRCm39)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,726,888 (GRCm39)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,388,016 (GRCm39)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,534,458 (GRCm39)	V119E	probably damaging	Het
Unk	C	T	11: 115,945,772 (GRCm39)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,820,259 (GRCm39)	T44I	probably benign	Het
Vstm5	G	A	9: 15,168,829 (GRCm39)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,444,044 (GRCm39)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,157,209 (GRCm39)	C302*	probably null	Het
Zfp972	A	T	2: 177,548,728 (GRCm39)		probably null	Het
Zfyve21	C	A	12: 111,794,028 (GRCm39)	A212E	probably benign	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
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'- TGTCATAGAACGTCTTCCCAC -3'
(R):5'- TACCAAACAGCCTTGCATTTC -3'

Sequencing Primer
(F):5'- CGTCTTCCCACAAGCATTACAG -3'
(R):5'- AGTATATAAACCCCGTGTCTGC -3'

Posted On

2018-04-27