Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Zeb2'

486613

Institutional Source

Beutler Lab

Gene Symbol

Zeb2

Ensembl Gene

ENSMUSG00000026872

Gene Name

zinc finger E-box binding homeobox 2

Synonyms

Zfhx1b, Zfx1b, SIP1, 9130203F04Rik, D130016B08Rik

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44983632-45117395 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 44988640 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 1170 (S1170*)

Ref Sequence

ENSEMBL: ENSMUSP00000144421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028229] [ENSMUST00000068415] [ENSMUST00000076836] [ENSMUST00000176438] [ENSMUST00000176732] [ENSMUST00000177302] [ENSMUST00000200844]

Predicted Effect

probably null
Transcript: ENSMUST00000028229
AA Change: S1238*

SMART Domains

Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: S1238*

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
ZnF_C2H2	211	234	2.09e-3	SMART
ZnF_C2H2	241	263	9.88e-5	SMART
ZnF_C2H2	282	304	4.87e-4	SMART
ZnF_C2H2	310	330	1.86e1	SMART
low complexity region	352	364	N/A	INTRINSIC
ZnF_C2H2	581	601	5.54e1	SMART
HOX	644	706	2.05e-3	SMART
low complexity region	778	808	N/A	INTRINSIC
low complexity region	841	856	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC
ZnF_C2H2	999	1021	4.47e-3	SMART
ZnF_C2H2	1027	1049	2.17e-1	SMART
ZnF_C2H2	1055	1076	1.89e-1	SMART
low complexity region	1083	1097	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1158	1168	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000068415
AA Change: S1194*

SMART Domains

Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: S1194*

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
ZnF_C2H2	211	234	2.09e-3	SMART
ZnF_C2H2	241	263	9.88e-5	SMART
ZnF_C2H2	282	304	4.87e-4	SMART
ZnF_C2H2	310	330	1.86e1	SMART
low complexity region	352	364	N/A	INTRINSIC
ZnF_C2H2	581	601	5.54e1	SMART
HOX	644	706	2.05e-3	SMART
low complexity region	778	808	N/A	INTRINSIC
low complexity region	841	856	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC
ZnF_C2H2	999	1021	4.47e-3	SMART
ZnF_C2H2	1027	1049	2.17e-1	SMART
ZnF_C2H2	1055	1076	1.89e-1	SMART
low complexity region	1083	1097	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1158	1168	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000076836
AA Change: S1193*

SMART Domains

Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: S1193*

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
ZnF_C2H2	210	233	2.09e-3	SMART
ZnF_C2H2	240	262	9.88e-5	SMART
ZnF_C2H2	281	303	4.87e-4	SMART
ZnF_C2H2	309	329	1.86e1	SMART
low complexity region	351	363	N/A	INTRINSIC
ZnF_C2H2	580	600	5.54e1	SMART
HOX	643	705	2.05e-3	SMART
low complexity region	777	807	N/A	INTRINSIC
low complexity region	840	855	N/A	INTRINSIC
low complexity region	869	880	N/A	INTRINSIC
ZnF_C2H2	998	1020	4.47e-3	SMART
ZnF_C2H2	1026	1048	2.17e-1	SMART
ZnF_C2H2	1054	1075	1.89e-1	SMART
low complexity region	1082	1096	N/A	INTRINSIC
low complexity region	1133	1149	N/A	INTRINSIC
low complexity region	1157	1167	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176438
AA Change: S1194*

SMART Domains

Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: S1194*

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
ZnF_C2H2	211	234	2.09e-3	SMART
ZnF_C2H2	241	263	9.88e-5	SMART
ZnF_C2H2	282	304	4.87e-4	SMART
ZnF_C2H2	310	330	1.86e1	SMART
low complexity region	352	364	N/A	INTRINSIC
ZnF_C2H2	581	601	5.54e1	SMART
HOX	644	706	2.05e-3	SMART
low complexity region	778	808	N/A	INTRINSIC
low complexity region	841	856	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC
ZnF_C2H2	999	1021	4.47e-3	SMART
ZnF_C2H2	1027	1049	2.17e-1	SMART
ZnF_C2H2	1055	1076	1.89e-1	SMART
low complexity region	1083	1097	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1158	1168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176732

SMART Domains

Protein: ENSMUSP00000135393
Gene: ENSMUSG00000026872

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
ZnF_C2H2	60	83	2.09e-3	SMART
ZnF_C2H2	90	112	9.88e-5	SMART
ZnF_C2H2	131	153	4.87e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000177302
AA Change: S1194*

SMART Domains

Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: S1194*

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
ZnF_C2H2	211	234	2.09e-3	SMART
ZnF_C2H2	241	263	9.88e-5	SMART
ZnF_C2H2	282	304	4.87e-4	SMART
ZnF_C2H2	310	330	1.86e1	SMART
low complexity region	352	364	N/A	INTRINSIC
ZnF_C2H2	581	601	5.54e1	SMART
HOX	644	706	2.05e-3	SMART
low complexity region	778	808	N/A	INTRINSIC
low complexity region	841	856	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC
ZnF_C2H2	999	1021	4.47e-3	SMART
ZnF_C2H2	1027	1049	2.17e-1	SMART
ZnF_C2H2	1055	1076	1.89e-1	SMART
low complexity region	1083	1097	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1158	1168	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000200844
AA Change: S1170*

SMART Domains

Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: S1170*

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
ZnF_C2H2	187	210	9.2e-6	SMART
ZnF_C2H2	217	239	4.2e-7	SMART
ZnF_C2H2	258	280	2e-6	SMART
ZnF_C2H2	286	306	8e-2	SMART
low complexity region	328	340	N/A	INTRINSIC
ZnF_C2H2	557	577	2.4e-1	SMART
HOX	620	682	1.1e-5	SMART
low complexity region	754	784	N/A	INTRINSIC
low complexity region	817	832	N/A	INTRINSIC
low complexity region	846	857	N/A	INTRINSIC
ZnF_C2H2	975	997	1.9e-5	SMART
ZnF_C2H2	1003	1025	9.6e-4	SMART
ZnF_C2H2	1031	1052	7.9e-4	SMART
low complexity region	1059	1073	N/A	INTRINSIC
low complexity region	1110	1126	N/A	INTRINSIC
low complexity region	1134	1144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mutants exhibit a variety of defects at embryonic day 8.5 and die between embryonic days 9.5 and 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in Zeb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Zeb2	APN	2	44997275	missense	probably damaging	1.00
IGL01639:Zeb2	APN	2	44997257	missense	probably benign
IGL02016:Zeb2	APN	2	44988874	missense	possibly damaging	0.71
IGL02337:Zeb2	APN	2	44997230	missense	probably damaging	0.96
IGL02745:Zeb2	APN	2	44994475	unclassified	probably benign
IGL02893:Zeb2	APN	2	44996607	missense	probably benign	0.03
IGL03412:Zeb2	APN	2	45002708	intron	probably benign
Dropped	UTSW	2	45110041	missense	possibly damaging	0.66
Okapi	UTSW	2	44997156	missense	probably damaging	1.00
sable	UTSW	2	44997318	missense	probably damaging	1.00
R0514:Zeb2	UTSW	2	45002647	missense	possibly damaging	0.52
R0603:Zeb2	UTSW	2	45017426	missense	probably benign	0.45
R0608:Zeb2	UTSW	2	44996126	missense	possibly damaging	0.87
R1236:Zeb2	UTSW	2	44994646	missense	probably damaging	1.00
R1529:Zeb2	UTSW	2	44997194	missense	probably damaging	1.00
R1581:Zeb2	UTSW	2	44997000	missense	probably damaging	0.99
R1636:Zeb2	UTSW	2	45002611	missense	probably damaging	1.00
R1924:Zeb2	UTSW	2	45002612	missense	probably damaging	1.00
R2012:Zeb2	UTSW	2	44997950	missense	probably damaging	1.00
R2097:Zeb2	UTSW	2	44997156	missense	probably damaging	1.00
R2156:Zeb2	UTSW	2	44988809	missense	probably benign	0.20
R4385:Zeb2	UTSW	2	45023062	missense	probably damaging	1.00
R4472:Zeb2	UTSW	2	45023011	missense	probably damaging	1.00
R4678:Zeb2	UTSW	2	44996341	missense	probably damaging	0.99
R4769:Zeb2	UTSW	2	44996435	missense	probably damaging	1.00
R4816:Zeb2	UTSW	2	44997768	missense	probably damaging	0.99
R4918:Zeb2	UTSW	2	44996882	missense	probably damaging	1.00
R4969:Zeb2	UTSW	2	44998919	missense	probably damaging	1.00
R5191:Zeb2	UTSW	2	45002600	missense	probably benign	0.00
R5195:Zeb2	UTSW	2	45001635	missense	probably damaging	1.00
R5322:Zeb2	UTSW	2	44997095	missense	probably damaging	1.00
R5699:Zeb2	UTSW	2	44997788	missense	probably damaging	1.00
R5750:Zeb2	UTSW	2	44997518	missense	probably damaging	0.96
R5764:Zeb2	UTSW	2	44996919	missense	possibly damaging	0.89
R5914:Zeb2	UTSW	2	44997052	missense	probably benign	0.00
R5918:Zeb2	UTSW	2	45111259	intron	probably benign
R6037:Zeb2	UTSW	2	44988640	nonsense	probably null
R6302:Zeb2	UTSW	2	44997759	missense	probably benign	0.18
R6372:Zeb2	UTSW	2	45002539	missense	probably damaging	1.00
R6402:Zeb2	UTSW	2	44996975	missense	probably damaging	1.00
R6492:Zeb2	UTSW	2	45110496	intron	probably benign
R6554:Zeb2	UTSW	2	44997512	missense	probably damaging	1.00
R6675:Zeb2	UTSW	2	44997445	nonsense	probably null
R6735:Zeb2	UTSW	2	45110016	missense	probably null	0.99
R6870:Zeb2	UTSW	2	44988910	missense	probably damaging	0.98
R6925:Zeb2	UTSW	2	44994529	missense	probably damaging	1.00
R6963:Zeb2	UTSW	2	44988799	missense	probably damaging	0.97
R6972:Zeb2	UTSW	2	44997318	missense	probably damaging	1.00
R7144:Zeb2	UTSW	2	45110041	missense	possibly damaging	0.66
R7178:Zeb2	UTSW	2	44996994	missense	probably damaging	0.97
R7379:Zeb2	UTSW	2	45001817	splice site	probably null
R7419:Zeb2	UTSW	2	44996347	missense	probably benign	0.20
R7580:Zeb2	UTSW	2	44994532	missense	probably damaging	1.00
R7599:Zeb2	UTSW	2	44994613	missense	probably damaging	1.00
R7625:Zeb2	UTSW	2	45002572	missense	probably damaging	1.00
R7917:Zeb2	UTSW	2	44996409	missense	possibly damaging	0.50
R8132:Zeb2	UTSW	2	44989130	missense	probably damaging	1.00
R8412:Zeb2	UTSW	2	44998952	missense	probably damaging	1.00
R8413:Zeb2	UTSW	2	44996171	missense	probably damaging	0.99
R8417:Zeb2	UTSW	2	45022996	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCTCTACAGCTTCCTGGAAG -3'
(R):5'- CTTACCTGCAGAGCATCACC -3'

Sequencing Primer
(F):5'- TTCCTGGAAGCGTCAGGC -3'
(R):5'- TCAGGGGTACTCTGACTCG -3'

Posted On

2017-08-16