Mutagenetix > Incidental Mutations

Incidental Mutation 'R8412:Zeb2'

652721

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44983632-45117395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44998952 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 327 (K327R)

Ref Sequence

ENSEMBL: ENSMUSP00000028229 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028229
AA Change: K327R

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

SMART Domains

Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: K327R

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: K283R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: K283R

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: K282R

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

SMART Domains

Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: K282R

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: K283R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: K283R

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

possibly damaging
Transcript: ENSMUST00000176732
AA Change: K196R

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135393
Gene: ENSMUSG00000026872
AA Change: K196R

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: K283R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: K283R

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: K259R

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

SMART Domains

Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: K259R

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: K312R

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

SMART Domains

Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: K312R

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	A	1: 184,033,159	R234S	probably damaging	Het
Ace	T	A	11: 105,979,266	F806Y	probably benign	Het
Ak8	A	G	2: 28,739,631	T286A	probably benign	Het
Apba2	T	A	7: 64,745,798	F674Y	probably damaging	Het
Apob	A	G	12: 8,008,069	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,466,028	P884L	probably benign	Het
Atg2a	T	C	19: 6,244,524	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,662,312	I334F	possibly damaging	Het
Bmi1	C	T	2: 18,684,303	T266I	probably damaging	Het
Cdh26	A	G	2: 178,462,724	I301V	probably damaging	Het
Cenpx	A	T	11: 120,711,732	H68Q	unknown	Het
Cnot10	T	C	9: 114,610,670	R524G	probably benign	Het
Cnpy1	A	T	5: 28,209,208	Y22*	probably null	Het
Csmd3	C	T	15: 47,636,398	R2114H		Het
Defa29	T	A	8: 21,326,046	T102S	probably benign	Het
Fras1	T	C	5: 96,596,852	I582T	probably benign	Het
Gm14295	G	A	2: 176,809,629	C304Y	probably damaging	Het
Gucy2d	T	C	7: 98,443,839	V141A	possibly damaging	Het
Ifi47	A	C	11: 49,095,598	Q64P	probably damaging	Het
Irx3	G	T	8: 91,800,400	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,363,620	H289R	probably benign	Het
Lamc3	A	G	2: 31,912,116	D512G	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Med23	C	A	10: 24,908,734	F1200L	probably benign	Het
Ndst4	A	T	3: 125,570,790	D372V	possibly damaging	Het
Nob1	T	A	8: 107,421,598	K71*	probably null	Het
Ntrk3	A	G	7: 78,356,149	I488T	probably benign	Het
Pds5b	G	T	5: 150,719,959	C82F	probably damaging	Het
Pkd1l3	T	A	8: 109,633,390	V969E	possibly damaging	Het
Ppme1	A	T	7: 100,335,091	N307K	probably benign	Het
Pus7l	C	T	15: 94,527,975	C515Y	probably benign	Het
Rpp21	T	A	17: 36,257,699	H22L	possibly damaging	Het
Scamp3	T	C	3: 89,181,218	F244L	probably damaging	Het
Scgb1b7	A	T	7: 31,712,954	K52*	probably null	Het
Slc12a3	T	C	8: 94,334,067	I261T	probably damaging	Het
Slc19a3	C	T	1: 83,014,812	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,180,856	I58V	probably benign	Het
Slc9a9	A	C	9: 95,229,039	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,384,523	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,138,457	V905A	probably damaging	Het
Taok3	A	G	5: 117,266,037	D759G	possibly damaging	Het
Tas1r1	T	C	4: 152,032,576	I200M	probably benign	Het
Tnfrsf25	T	C	4: 152,119,682	V360A	possibly damaging	Het
Trim12a	A	T	7: 104,304,337	M189K	possibly damaging	Het
Tspan32	T	C	7: 143,005,958	F41L	probably benign	Het
Tube1	T	A	10: 39,145,661	S301T	possibly damaging	Het
Usp8	T	C	2: 126,742,658	S596P	probably benign	Het
Virma	T	A	4: 11,521,261		probably null	Het
Vmn2r58	T	C	7: 41,864,298	D307G	probably benign	Het
Zfp54	C	T	17: 21,434,648	T468M	probably benign	Het
Zfp780b	A	T	7: 27,963,126	I668N	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
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
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'- GACTCTCCAAGACTCCTAGAGC -3'
(R):5'- CCAGCATTACCACTTTTATTGCAAC -3'

Sequencing Primer
(F):5'- CTCCAAGACTCCTAGAGCTTATG -3'
(R):5'- TTGCAACTCTGAAAGTCTGACCAG -3'

Posted On

2020-10-20