Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Zeb2'

366313

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44983632-45117395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44996435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 825 (E825A)

Ref Sequence

ENSEMBL: ENSMUSP00000076111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028229] [ENSMUST00000068415] [ENSMUST00000076836] [ENSMUST00000176438] [ENSMUST00000176732] [ENSMUST00000177302] [ENSMUST00000200844] [ENSMUST00000201804]

AlphaFold

Q9R0G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028229
AA Change: E870A

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

SMART Domains

Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: E870A

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 damaging
Transcript: ENSMUST00000068415
AA Change: E826A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: E826A

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 damaging
Transcript: ENSMUST00000076836
AA Change: E825A

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

SMART Domains

Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: E825A

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 damaging
Transcript: ENSMUST00000176438
AA Change: E826A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: E826A

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 damaging
Transcript: ENSMUST00000177302
AA Change: E826A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: E826A

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: ENSMUST00000200844
AA Change: E802A

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: E802A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201804

SMART Domains

Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872

Domain	Start	End	E-Value	Type
low complexity region	107	119	N/A	INTRINSIC
ZnF_C2H2	240	263	9.2e-6	SMART
ZnF_C2H2	270	292	4.2e-7	SMART
ZnF_C2H2	311	333	2e-6	SMART
ZnF_C2H2	339	359	8e-2	SMART
low complexity region	381	393	N/A	INTRINSIC
ZnF_C2H2	610	630	2.4e-1	SMART
HOX	673	731	1.2e-3	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,660,217	S1264A	probably benign	Het
Adamts13	T	G	2: 27,008,711	Y1361*	probably null	Het
Ahrr	A	T	13: 74,214,212	D389E	probably damaging	Het
Alx3	T	C	3: 107,600,691	F172S	probably damaging	Het
Antxrl	A	G	14: 34,073,070	H485R	possibly damaging	Het
Aox4	A	G	1: 58,259,148	D1091G	probably null	Het
Btbd1	T	A	7: 81,805,810	Q271L	probably benign	Het
Cd209c	A	T	8: 3,944,953	N70K	probably benign	Het
Cdc14a	C	T	3: 116,294,750		probably null	Het
Cenpe	A	G	3: 135,248,151	M1641V	probably benign	Het
Clec2e	G	A	6: 129,100,827	T16I	probably benign	Het
Clp1	T	C	2: 84,725,875	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,426,148	F517I	probably damaging	Het
Dzip3	T	C	16: 48,938,474	N646S	probably damaging	Het
Ephx1	T	A	1: 180,995,978	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,495,767	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,440,849	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,141,783		probably null	Het
Ift81	G	T	5: 122,594,593	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Il6	T	G	5: 30,018,078	L114*	probably null	Het
Ism2	A	T	12: 87,299,581	M42K	probably benign	Het
Lhx5	A	G	5: 120,436,438	E269G	probably benign	Het
Marveld1	T	G	19: 42,147,995	M116R	possibly damaging	Het
Micall2	A	G	5: 139,706,886	S911P	probably damaging	Het
Mier1	G	A	4: 103,140,220	R195H	probably benign	Het
Muc2	T	A	7: 141,699,691		probably null	Het
Mybbp1a	A	G	11: 72,445,640	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,185,745	L179R	probably damaging	Het
Nos1	C	T	5: 117,943,245	Q1171*	probably null	Het
Nrg1	T	A	8: 31,917,972	I78F	probably damaging	Het
Olfr1163	T	G	2: 88,070,729	T218P	probably benign	Het
Olfr220	T	G	1: 174,448,958	F112V	possibly damaging	Het
Plek2	C	T	12: 78,906,890		probably null	Het
Plod2	A	G	9: 92,595,272	H339R	probably damaging	Het
Pold1	C	T	7: 44,535,071	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,950,868	I868V	probably benign	Het
Prss54	C	A	8: 95,559,375	V357L	probably benign	Het
Rbbp8	T	A	18: 11,722,670	S625T	probably damaging	Het
Rgs1	A	T	1: 144,247,929	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,744,062	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,676,222	L1011F	probably damaging	Het
Slc19a3	G	A	1: 83,019,341	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,726,374	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991	L537Q	probably damaging	Het
Trim45	C	A	3: 100,931,734		probably benign	Het
Umodl1	G	T	17: 30,984,002	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,137,612	R87K	probably damaging	Het
Vmn1r78	T	A	7: 12,152,798	I112N	probably damaging	Het
Zfp930	A	T	8: 69,226,692	I50F	probably benign	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
Blight	UTSW	2	45110028	missense	possibly damaging	0.95
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
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
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
R8750:Zeb2	UTSW	2	44997927	missense	probably damaging	1.00
R8865:Zeb2	UTSW	2	44996127	missense	probably benign	0.02
R8916:Zeb2	UTSW	2	44996784	missense	probably damaging	0.99
R9068:Zeb2	UTSW	2	45110028	missense	possibly damaging	0.95
R9094:Zeb2	UTSW	2	45113124	intron	probably benign
R9139:Zeb2	UTSW	2	44988625	missense	possibly damaging	0.52
R9187:Zeb2	UTSW	2	45110028	missense	possibly damaging	0.95
R9309:Zeb2	UTSW	2	45002563	missense	probably damaging	0.99
R9310:Zeb2	UTSW	2	44996976	missense	probably benign	0.01
R9337:Zeb2	UTSW	2	45022900	missense	probably benign	0.35
R9350:Zeb2	UTSW	2	44997146	missense	possibly damaging	0.79
R9371:Zeb2	UTSW	2	44998900	missense	probably damaging	1.00
R9389:Zeb2	UTSW	2	44997908	missense	probably damaging	1.00
R9509:Zeb2	UTSW	2	44997864	missense	possibly damaging	0.74
R9600:Zeb2	UTSW	2	45097168	missense	unknown
R9674:Zeb2	UTSW	2	45001713	missense	probably damaging	1.00
R9756:Zeb2	UTSW	2	44997402	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- ATGCCGAACACAGGGTTGTTG -3'
(R):5'- GTTGTGATCCTCCTCTCAGG -3'

Sequencing Primer
(F):5'- AACACAGGGTTGTTGCTTTTATTGTC -3'
(R):5'- TCAGGCTAACAAAATCTTCCCATTTC -3'

Posted On

2015-12-21