Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Bnc2'

706141

Institutional Source

Beutler Lab

Gene Symbol

Bnc2

Ensembl Gene

ENSMUSG00000028487

Gene Name

basonuclin zinc finger protein 2

Synonyms

8430420F16Rik, 5031434M05Rik

MMRRC Submission

068752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8887 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

84193332-84593512 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 84209707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: 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

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 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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (93/95)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	T	C	17: 57,175,285 (GRCm39)	T76A	probably benign	Het
Actn1	A	G	12: 80,215,197 (GRCm39)	C860R	probably damaging	Het
Adam23	T	A	1: 63,554,744 (GRCm39)	L170Q	probably damaging	Het
Afdn	C	T	17: 14,116,401 (GRCm39)	R1620*	probably null	Het
Agfg1	A	G	1: 82,848,525 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,870,298 (GRCm39)	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,247,401 (GRCm39)	T162A	probably benign	Het
Atp1a2	T	C	1: 172,113,222 (GRCm39)	Q487R	probably null	Het
BC048507	T	A	13: 68,011,628 (GRCm39)	C2S	probably benign	Het
Bltp1	G	T	3: 37,087,503 (GRCm39)	A615S	possibly damaging	Het
Bop1	C	T	15: 76,338,524 (GRCm39)	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
Cacna1i	T	C	15: 80,258,894 (GRCm39)	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,715,162 (GRCm39)	T249K	probably damaging	Het
Clca3a2	C	A	3: 144,790,810 (GRCm39)	G421*	probably null	Het
Clec1b	A	T	6: 129,378,703 (GRCm39)		probably null	Het
Cnksr3	C	T	10: 7,104,467 (GRCm39)	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091 (GRCm39)	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,755,948 (GRCm39)	S114G	probably benign	Het
Corin	A	T	5: 72,486,953 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,503 (GRCm39)	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,229,270 (GRCm39)	L51P	probably damaging	Het
Dip2c	T	A	13: 9,673,989 (GRCm39)		probably benign	Het
Dlc1	A	T	8: 37,051,481 (GRCm39)	V299E	probably benign	Het
Dlgap2	G	A	8: 14,229,682 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,032,997 (GRCm39)	L346P	probably damaging	Het
Dnah9	T	C	11: 65,746,210 (GRCm39)	T3968A	probably benign	Het
Duox2	A	C	2: 122,120,044 (GRCm39)	M822R	probably null	Het
E2f7	A	T	10: 110,610,674 (GRCm39)	Q433L	probably benign	Het
Eif3k	A	C	7: 28,679,901 (GRCm39)	Y42*	probably null	Het
Elmod3	A	G	6: 72,563,494 (GRCm39)	S45P	probably damaging	Het
Emilin3	C	A	2: 160,751,108 (GRCm39)	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887 (GRCm39)	F283L	probably benign	Het
Fbxw7	T	C	3: 84,876,549 (GRCm39)	Y358H		Het
G430095P16Rik	A	G	8: 85,453,043 (GRCm39)	N10S	unknown	Het
Gldc	A	G	19: 30,111,156 (GRCm39)	V540A	possibly damaging	Het
Gm3667	T	A	14: 18,271,553 (GRCm39)	E67D	probably benign	Het
Golga3	T	A	5: 110,353,626 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,217,255 (GRCm39)	E38G	probably benign	Het
Hectd4	A	G	5: 121,433,541 (GRCm39)	D952G	probably benign	Het
Hoxb8	T	A	11: 96,175,223 (GRCm39)	L220Q	probably damaging	Het
Ice1	A	T	13: 70,751,050 (GRCm39)	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,802,480 (GRCm39)	Y118F	probably damaging	Het
Ift122	A	T	6: 115,868,880 (GRCm39)	T456S	probably benign	Het
Ighg3	G	A	12: 113,323,845 (GRCm39)	T181I		Het
Ighv1-66	C	A	12: 115,557,032 (GRCm39)	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,726,130 (GRCm39)	V31A	possibly damaging	Het
Ints12	T	A	3: 132,815,003 (GRCm39)	N403K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kalrn	A	C	16: 34,047,496 (GRCm39)	N908K	probably benign	Het
Kctd9	G	A	14: 67,962,016 (GRCm39)	V20I	unknown	Het
Krt78	G	T	15: 101,861,746 (GRCm39)	L167M	probably damaging	Het
Ldb1	T	C	19: 46,023,294 (GRCm39)	E206G	probably damaging	Het
Lig1	A	G	7: 13,030,713 (GRCm39)	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,486,077 (GRCm39)	I34S	probably damaging	Het
Map2	T	C	1: 66,454,758 (GRCm39)	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,706,800 (GRCm39)	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,745,526 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,331,474 (GRCm39)	T1233A	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Nipbl	A	T	15: 8,391,271 (GRCm39)	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,175,665 (GRCm39)	P549S	probably damaging	Het
Or12d2	A	T	17: 37,624,642 (GRCm39)	L211Q	probably damaging	Het
Or4c3	A	G	2: 89,852,269 (GRCm39)	V47A	probably benign	Het
Or5h22	A	T	16: 58,894,846 (GRCm39)	V199D	possibly damaging	Het
Or5w22	A	G	2: 87,363,187 (GRCm39)	D270G	possibly damaging	Het
Or6c3b	A	T	10: 129,527,372 (GRCm39)	Y179*	probably null	Het
Padi3	A	T	4: 140,523,795 (GRCm39)	C228*	probably null	Het
Palld	T	A	8: 61,986,512 (GRCm39)	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,261,488 (GRCm39)	Y249F	probably benign	Het
Pelo	C	T	13: 115,225,451 (GRCm39)	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,803,430 (GRCm39)		probably benign	Het
Pramel26	A	G	4: 143,539,257 (GRCm39)	F79L	probably damaging	Het
Prdm2	A	G	4: 142,860,771 (GRCm39)	W840R	probably damaging	Het
Prkcg	A	G	7: 3,370,857 (GRCm39)	D428G	possibly damaging	Het
Pus7	G	A	5: 23,948,476 (GRCm39)	R571*	probably null	Het
Rab11fip3	A	G	17: 26,286,927 (GRCm39)	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,434,522 (GRCm39)	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,246,793 (GRCm39)	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,559,289 (GRCm39)		probably benign	Het
Sh3bp1	T	A	15: 78,788,540 (GRCm39)		probably null	Het
Siglecg	T	A	7: 43,058,008 (GRCm39)	S9T	probably benign	Het
Slc9a1	T	C	4: 133,139,258 (GRCm39)	F159L	probably benign	Het
Slc9a2	A	G	1: 40,758,009 (GRCm39)	I183V	probably benign	Het
St6galnac4	A	G	2: 32,484,110 (GRCm39)	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,187,059 (GRCm39)	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,801,332 (GRCm39)	T212K	probably benign	Het
Trim43b	T	G	9: 88,969,642 (GRCm39)	I269L	probably benign	Het
Ttll6	T	C	11: 96,047,492 (GRCm39)	L697P	possibly damaging	Het
Ttn	T	G	2: 76,549,239 (GRCm39)	T31813P	probably damaging	Het
Ttn	A	T	2: 76,571,932 (GRCm39)	D26320E	probably damaging	Het
Uba6	A	G	5: 86,307,061 (GRCm39)		probably null	Het
Usp1	C	G	4: 98,819,185 (GRCm39)	Q216E	probably benign	Het
Vcan	T	C	13: 89,853,026 (GRCm39)	T645A	probably benign	Het
Wdr64	C	A	1: 175,599,850 (GRCm39)	P559H	probably benign	Het
Zfat	T	C	15: 68,056,315 (GRCm39)	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,698,219 (GRCm39)	N163K	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
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'- TCTCGATGTCCTGGACCTATGG -3'
(R):5'- GTCAGTAAATCTCCATTGGCTCC -3'

Sequencing Primer
(F):5'- GATGTCCTGGACCTATGGTTCTTTC -3'
(R):5'- GTACAGTTCAGACAAGGTTAGATG -3'

Posted On

2022-03-30