Mutagenetix > Incidental Mutations

Incidental Mutation 'R1673:Zbtb12'

187863

Institutional Source

Beutler Lab

Gene Symbol

Zbtb12

Ensembl Gene

ENSMUSG00000049823

Gene Name

zinc finger and BTB domain containing 12

Synonyms

Bat-9, Bat9

MMRRC Submission

039709-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R1673 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

34879483-34896867 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCATC to TCATCCATC at 34896310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013931] [ENSMUST00000052778] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000148431] [ENSMUST00000173093]

AlphaFold

Q9Z150

Predicted Effect

probably benign
Transcript: ENSMUST00000013931

SMART Domains

Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
coiled coil region	336	385	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	604	627	N/A	INTRINSIC
ANK	737	766	2.52e-6	SMART
ANK	770	799	1.19e-2	SMART
ANK	803	833	4.71e-6	SMART
ANK	837	866	2.9e-6	SMART
ANK	870	899	1e0	SMART
ANK	903	932	1.53e-5	SMART
PreSET	976	1075	2.44e-40	SMART
SET	1091	1214	4.08e-46	SMART
PostSET	1217	1233	2.84e-1	SMART
low complexity region	1245	1260	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000052778

SMART Domains

Protein: ENSMUSP00000057515
Gene: ENSMUSG00000049823

Domain	Start	End	E-Value	Type
BTB	33	127	1.5e-19	SMART
low complexity region	138	149	N/A	INTRINSIC
low complexity region	153	179	N/A	INTRINSIC
low complexity region	186	204	N/A	INTRINSIC
low complexity region	227	241	N/A	INTRINSIC
low complexity region	297	327	N/A	INTRINSIC
ZnF_C2H2	333	356	4.4e-2	SMART
ZnF_C2H2	359	381	2.27e-4	SMART
ZnF_C2H2	387	409	1.25e-1	SMART
ZnF_C2H2	415	438	4.54e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078061

SMART Domains

Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
coiled coil region	279	328	N/A	INTRINSIC
low complexity region	350	367	N/A	INTRINSIC
low complexity region	513	536	N/A	INTRINSIC
ANK	646	675	2.52e-6	SMART
ANK	679	708	1.19e-2	SMART
ANK	712	742	4.71e-6	SMART
ANK	746	775	2.9e-6	SMART
ANK	779	808	1e0	SMART
ANK	812	841	1.53e-5	SMART
PreSET	885	984	2.44e-40	SMART
SET	1000	1123	4.08e-46	SMART
PostSET	1126	1142	2.84e-1	SMART
low complexity region	1154	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097342

SMART Domains

Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
coiled coil region	336	385	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	570	593	N/A	INTRINSIC
ANK	703	732	2.52e-6	SMART
ANK	736	765	1.19e-2	SMART
ANK	769	799	4.71e-6	SMART
ANK	803	832	2.9e-6	SMART
ANK	836	865	1e0	SMART
ANK	869	898	1.53e-5	SMART
PreSET	942	1041	2.44e-40	SMART
SET	1057	1180	4.08e-46	SMART
PostSET	1183	1199	2.84e-1	SMART
low complexity region	1211	1226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114033

SMART Domains

Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
coiled coil region	279	328	N/A	INTRINSIC
low complexity region	350	367	N/A	INTRINSIC
low complexity region	547	570	N/A	INTRINSIC
ANK	680	709	2.52e-6	SMART
ANK	713	742	1.19e-2	SMART
ANK	746	776	4.71e-6	SMART
ANK	780	809	2.9e-6	SMART
ANK	813	842	1e0	SMART
ANK	846	875	1.53e-5	SMART
PreSET	919	1018	2.44e-40	SMART
SET	1034	1157	4.08e-46	SMART
PostSET	1160	1176	2.84e-1	SMART
low complexity region	1188	1203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146418

Predicted Effect

probably benign
Transcript: ENSMUST00000148431

SMART Domains

Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371

Domain	Start	End	E-Value	Type
VWA	33	187	2.33e0	SMART
Tryp_SPc	191	470	4.43e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173093

SMART Domains

Protein: ENSMUSP00000133903
Gene: ENSMUSG00000049823

Domain	Start	End	E-Value	Type
Pfam:BTB	23	68	2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174880

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,212,339	S809G	probably benign	Het
Ap4b1	T	A	3: 103,817,845		probably null	Het
Aqp12	A	G	1: 93,006,884	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 59,791,240	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,299,990	N314I	probably damaging	Het
Cd209d	A	G	8: 3,877,113	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,178,021	K554*	probably null	Het
Celsr1	A	G	15: 85,932,457	Y1762H	probably benign	Het
Cklf	A	G	8: 104,257,351	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,693,538	I755L	probably benign	Het
Cts3	G	A	13: 61,567,554	Q140*	probably null	Het
Ddx1	A	T	12: 13,244,966		probably null	Het
Dnah3	C	A	7: 119,971,179	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,148	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,331,504	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,151,853	F25L	probably damaging	Het
Efhd1	T	A	1: 87,264,682	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,793,818		probably null	Het
Elp2	T	A	18: 24,611,926	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,910,196		probably null	Het
F5	A	G	1: 164,179,520	T298A	probably damaging	Het
Fam208b	A	G	13: 3,584,498		probably null	Het
Fbxo21	G	T	5: 118,008,064	R584L	probably benign	Het
Fbxw22	G	T	9: 109,382,128	F368L	possibly damaging	Het
Gcn1l1	T	C	5: 115,582,297	I409T	probably benign	Het
Gm10260	A	T	13: 97,760,360	Y77N	possibly damaging	Het
Gm12887	T	C	4: 121,616,458	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637	Q224*	probably null	Het
Hdac5	C	T	11: 102,198,805	V860M	probably damaging	Het
Ino80	G	A	2: 119,381,936	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,820	I110F	probably damaging	Het
Lrig3	A	G	10: 126,010,167	T822A	probably damaging	Het
Mapk6	T	C	9: 75,395,569	D214G	probably damaging	Het
Mcm2	A	T	6: 88,892,078	L264Q	probably benign	Het
Mpnd	A	T	17: 56,010,455	Y64F	probably damaging	Het
Muc1	T	A	3: 89,231,772	M520K	possibly damaging	Het
Muc4	T	A	16: 32,756,902	S189T	probably benign	Het
Myh13	T	C	11: 67,352,119	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,830,479	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,695	I116T	probably damaging	Het
Nptn	T	C	9: 58,623,732	L46P	probably benign	Het
Olfr11	A	T	13: 21,639,044	S160T	probably damaging	Het
Olfr1283	A	G	2: 111,369,207	T192A	probably benign	Het
Olfr290	T	A	7: 84,916,117	F113I	probably damaging	Het
Olfr610	C	A	7: 103,506,689	V86F	probably damaging	Het
Pgr	A	T	9: 8,902,068	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,872,282		probably null	Het
Pkd1l2	C	G	8: 117,040,775	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,249,565	E457G	probably damaging	Het
Rasa4	T	A	5: 136,104,637	V650D	probably benign	Het
Rem2	C	T	14: 54,476,309		probably benign	Het
Sdc1	G	A	12: 8,790,409	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,948,506	E366G	possibly damaging	Het
Setd2	T	A	9: 110,604,180	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,813,383	V397A	probably benign	Het
Slc36a2	A	T	11: 55,184,913	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468	V334A	probably benign	Het
Sox8	A	T	17: 25,567,482	Y416N	possibly damaging	Het
Speg	T	C	1: 75,411,163	V1416A	possibly damaging	Het
Stk24	T	A	14: 121,337,571	I42F	probably damaging	Het
Tcerg1	T	A	18: 42,552,581	L661Q	possibly damaging	Het
Tmem110	T	C	14: 30,864,434	L72S	possibly damaging	Het
Tpp1	G	A	7: 105,747,673	R417W	probably damaging	Het
Trim12a	T	A	7: 104,306,057	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,942,944	N396S	probably benign	Het
Ttn	T	C	2: 76,807,083	K5695R	probably damaging	Het
Ttn	G	A	2: 76,810,287	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,333,943		probably null	Het
Uaca	T	A	9: 60,872,156	L1273H	probably damaging	Het
Usp33	A	G	3: 152,368,282	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,616,211		probably null	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,446,354	F116L	probably benign	Het
Zfp408	G	A	2: 91,646,008	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,588,493	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,347,653	T638A	probably benign	Het
Zfp932	G	T	5: 110,008,988	G151V	probably damaging	Het
Zpbp	T	C	11: 11,352,696	K320E	probably damaging	Het
Zranb2	C	T	3: 157,537,640	P91L	probably damaging	Het

Other mutations in Zbtb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02290:Zbtb12	APN	17	34895472	missense	probably damaging	0.98
R0445:Zbtb12	UTSW	17	34896301	missense	possibly damaging	0.83
R1027:Zbtb12	UTSW	17	34896308	frame shift	probably null
R1673:Zbtb12	UTSW	17	34896308	frame shift	probably null
R2368:Zbtb12	UTSW	17	34895698	missense	possibly damaging	0.96
R2880:Zbtb12	UTSW	17	34895479	missense	probably damaging	0.99
R3908:Zbtb12	UTSW	17	34896268	splice site	probably null
R4705:Zbtb12	UTSW	17	34896401	missense	possibly damaging	0.93
R4707:Zbtb12	UTSW	17	34895499	missense	probably damaging	0.97
R4837:Zbtb12	UTSW	17	34896009	missense	probably benign
R5665:Zbtb12	UTSW	17	34895883	missense	possibly damaging	0.93
R9090:Zbtb12	UTSW	17	34895344	missense	possibly damaging	0.92
R9271:Zbtb12	UTSW	17	34895344	missense	possibly damaging	0.92
R9458:Zbtb12	UTSW	17	34896391	missense	possibly damaging	0.85
V5088:Zbtb12	UTSW	17	34896301	missense	possibly damaging	0.83
V5622:Zbtb12	UTSW	17	34896301	missense	possibly damaging	0.83
V5622:Zbtb12	UTSW	17	34896301	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TAGAAGTGGCACACCGGCTCAAAC -3'
(R):5'- GGACATTGATCTCAGCCACACCAG -3'

Sequencing Primer
(F):5'- CATGCTACAGCCTGTCAGAG -3'
(R):5'- CTTGAGGTGCCGCCTAATG -3'

Posted On

2014-05-09