Mutagenetix > Incidental Mutation

Incidental Mutation 'R0125:Bnc2'

21272

Institutional Source

Beutler Lab

Gene Symbol

Bnc2

Ensembl Gene

ENSMUSG00000028487

Gene Name

basonuclin zinc finger protein 2

Synonyms

8430420F16Rik, 5031434M05Rik

MMRRC Submission

038410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0125 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

84193332-84593512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84211169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 425 (I425S)

Ref Sequence

ENSEMBL: ENSMUSP00000135778 (fasta)

Gene Model

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

AlphaFold

Q8BMQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000102820
AA Change: I495S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: I495S

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: I467S

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

SMART Domains

Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: I467S

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 damaging
Transcript: ENSMUST00000176612
AA Change: I425S

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

SMART Domains

Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: I425S

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: I400S

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

SMART Domains

Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: I400S

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: 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: 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: 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: ENSMUST00000177277

Meta Mutation Damage Score

0.4415

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,096 (GRCm39)		probably benign	Het
Adam23	T	C	1: 63,573,515 (GRCm39)	L261P	probably benign	Het
Adgra3	G	A	5: 50,159,194 (GRCm39)		probably benign	Het
Agtr1b	A	G	3: 20,369,704 (GRCm39)	F301L	probably benign	Het
Ahnak2	G	A	12: 112,748,776 (GRCm39)	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,704,430 (GRCm39)		probably benign	Het
Apoh	A	T	11: 108,302,899 (GRCm39)	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Atp6v0a1	A	G	11: 100,929,677 (GRCm39)		probably null	Het
Axl	A	T	7: 25,486,368 (GRCm39)	M112K	probably benign	Het
Ccn4	T	C	15: 66,789,194 (GRCm39)	S227P	possibly damaging	Het
Cdc42bpa	C	T	1: 179,788,763 (GRCm39)	T30M	probably damaging	Het
Cebpz	C	A	17: 79,227,317 (GRCm39)	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,901,810 (GRCm39)		probably benign	Het
Chd1l	T	C	3: 97,494,465 (GRCm39)	N405S	probably benign	Het
Chodl	G	T	16: 78,738,311 (GRCm39)	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,395,743 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,935,105 (GRCm39)		probably benign	Het
Crybb3	T	C	5: 113,227,675 (GRCm39)	T49A	possibly damaging	Het
Ctps1	A	G	4: 120,418,722 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,551,497 (GRCm39)	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,273,422 (GRCm39)	V483G	probably benign	Het
Dennd2b	T	C	7: 109,155,545 (GRCm39)	K402E	probably benign	Het
Dnah14	A	T	1: 181,579,628 (GRCm39)	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,325,905 (GRCm39)	D756A	unknown	Het
Dst	T	C	1: 34,309,984 (GRCm39)	S1553P	probably damaging	Het
Elp4	A	G	2: 105,622,559 (GRCm39)		probably null	Het
Eml6	G	T	11: 29,832,088 (GRCm39)	T194K	probably benign	Het
Evi5	A	G	5: 107,943,638 (GRCm39)	I569T	probably benign	Het
Fancm	C	T	12: 65,168,730 (GRCm39)	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,852 (GRCm39)	D791G	probably benign	Het
Frem1	A	G	4: 82,930,188 (GRCm39)	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,519,481 (GRCm39)	Y196C	probably benign	Het
Hcls1	A	G	16: 36,782,525 (GRCm39)	D398G	probably benign	Het
Hydin	T	C	8: 111,189,163 (GRCm39)	V1189A	probably benign	Het
Itgb3	G	A	11: 104,534,789 (GRCm39)	D549N	probably damaging	Het
Itpr2	A	G	6: 146,141,951 (GRCm39)	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,648,475 (GRCm39)	T161A	probably benign	Het
Kntc1	G	A	5: 123,903,120 (GRCm39)		probably benign	Het
Map3k19	A	T	1: 127,750,837 (GRCm39)	F838Y	probably benign	Het
Map6	T	A	7: 98,985,187 (GRCm39)		probably null	Het
Mcrs1	A	G	15: 99,142,608 (GRCm39)		probably benign	Het
Mdn1	A	T	4: 32,729,956 (GRCm39)	Y2766F	probably damaging	Het
Med23	C	T	10: 24,776,686 (GRCm39)	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,671,646 (GRCm39)	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,793,177 (GRCm39)	L442Q	probably damaging	Het
Myo19	T	C	11: 84,779,001 (GRCm39)		probably benign	Het
Nedd1	A	C	10: 92,527,791 (GRCm39)	S468A	possibly damaging	Het
Niban2	T	A	2: 32,813,833 (GRCm39)	V682D	probably benign	Het
Nlrp4d	A	C	7: 10,116,316 (GRCm39)	V152G	probably damaging	Het
Nxf1	T	A	19: 8,740,170 (GRCm39)	D112E	probably benign	Het
Oas1h	A	T	5: 121,000,626 (GRCm39)	K79*	probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8b101	A	G	9: 38,020,815 (GRCm39)	T278A	probably benign	Het
Or8b1b	T	A	9: 38,375,757 (GRCm39)	L140*	probably null	Het
Pck1	G	A	2: 172,997,874 (GRCm39)	W314*	probably null	Het
Pla2g15	T	C	8: 106,889,756 (GRCm39)	Y343H	probably benign	Het
Plcb3	T	C	19: 6,936,276 (GRCm39)	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,328,442 (GRCm39)		probably null	Het
Pprc1	A	G	19: 46,057,951 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,516,871 (GRCm39)	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,516,701 (GRCm39)	Y172*	probably null	Het
Ros1	G	T	10: 52,001,885 (GRCm39)	A1079D	probably benign	Het
Sap30	T	C	8: 57,938,545 (GRCm39)	E147G	probably null	Het
Sell	T	C	1: 163,899,674 (GRCm39)		probably benign	Het
Senp1	A	T	15: 97,946,112 (GRCm39)	D544E	probably damaging	Het
Shpk	G	A	11: 73,105,048 (GRCm39)		probably benign	Het
Slc35b1	A	T	11: 95,277,353 (GRCm39)	T74S	probably benign	Het
Slc6a3	T	A	13: 73,718,098 (GRCm39)		probably benign	Het
Slf1	T	C	13: 77,191,864 (GRCm39)	N990S	probably benign	Het
Smgc	A	G	15: 91,738,746 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,351,515 (GRCm39)	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,260,285 (GRCm39)	P39S	unknown	Het
Sstr2	T	A	11: 113,515,303 (GRCm39)	M74K	probably damaging	Het
Svep1	T	C	4: 58,099,937 (GRCm39)		probably benign	Het
Tas2r143	A	G	6: 42,377,889 (GRCm39)	I240V	probably benign	Het
Tbrg1	T	C	9: 37,563,937 (GRCm39)	I233V	probably benign	Het
Tecpr1	G	T	5: 144,134,717 (GRCm39)	D1055E	probably damaging	Het
Thap2	A	T	10: 115,212,277 (GRCm39)		probably null	Het
Tinagl1	A	G	4: 130,060,101 (GRCm39)	Y388H	probably damaging	Het
Ttn	T	A	2: 76,585,896 (GRCm39)	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 87,073,961 (GRCm39)	W133R	probably benign	Het
Usp24	C	T	4: 106,254,496 (GRCm39)	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,387,390 (GRCm39)	S395P	possibly damaging	Het
Vav1	T	A	17: 57,606,847 (GRCm39)	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,250,069 (GRCm39)	Y734C	probably damaging	Het
Vps8	T	A	16: 21,288,904 (GRCm39)	V421E	probably benign	Het
Xkr7	G	T	2: 152,874,346 (GRCm39)	A138S	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
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
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'- TCATGAGTGCCCATCATCACTGCC -3'
(R):5'- AAAACCGAGCCAGCATGTGTCTCC -3'

Sequencing Primer
(F):5'- AGGTTGGAGGACTCACCATTTC -3'
(R):5'- GAATTCTGCCCCAGTCAGTG -3'

Posted On

2013-04-11