Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Zeb2'

710466

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44983632-45117395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44997908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 379 (I379N)

Ref Sequence

ENSEMBL: ENSMUSP00000028229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028229] [ENSMUST00000068415] [ENSMUST00000076836] [ENSMUST00000176438] [ENSMUST00000176732] [ENSMUST00000177302] [ENSMUST00000200844] [ENSMUST00000201211] [ENSMUST00000201623] [ENSMUST00000201804] [ENSMUST00000201969]

AlphaFold

Q9R0G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028229
AA Change: I379N

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

SMART Domains

Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: I379N

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: I335N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: I335N

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: I334N

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

SMART Domains

Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: I334N

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: I335N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: I335N

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: I335N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: I335N

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: ENSMUST00000200844
AA Change: I311N

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

SMART Domains

Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: I311N

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: ENSMUST00000201211

SMART Domains

Protein: ENSMUSP00000144406
Gene: ENSMUSG00000026872

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201623

SMART Domains

Protein: ENSMUSP00000144075
Gene: ENSMUSG00000026872

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
ZnF_C2H2	187	210	9.2e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201804
AA Change: I364N

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

SMART Domains

Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: I364N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201969

SMART Domains

Protein: ENSMUSP00000144141
Gene: ENSMUSG00000026872

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202432

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly 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
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
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
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
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'- CCACTAAACCCATGTGTTGCC -3'
(R):5'- GGTTTCACAGATTCTTATCTTGGC -3'

Sequencing Primer
(F):5'- CTAAACCCATGTGTTGCCATAAG -3'
(R):5'- GGCAGACAACTTTGCATGTTACC -3'

Posted On

2022-04-18