Mutagenetix > Incidental Mutations

Incidental Mutation 'R5195:Zeb2'

400055

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

042771-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44983632-45117395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45001635 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 287 (R287G)

Ref Sequence

ENSEMBL: ENSMUSP00000144637 (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: R302G

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

SMART Domains

Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: R302G

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: R258G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: R258G

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: R257G

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

SMART Domains

Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: R257G

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: R258G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: R258G

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: R171G

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

SMART Domains

Protein: ENSMUSP00000135393
Gene: ENSMUSG00000026872
AA Change: R171G

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: R258G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: R258G

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: R234G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: R234G

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

noncoding transcript
Transcript: ENSMUST00000201413

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: R287G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: R287G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209076

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,198,968	Y381C	probably damaging	Het
Apoo-ps	T	C	13: 107,414,553		noncoding transcript	Het
Arhgef40	T	A	14: 51,989,812	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,453,439	L358P	possibly damaging	Het
Bicra	G	A	7: 15,979,953	P775S	possibly damaging	Het
Ccdc78	T	A	17: 25,789,988		probably null	Het
Ccnb1-ps	T	A	7: 42,106,098		noncoding transcript	Het
Cct6a	A	T	5: 129,794,655		noncoding transcript	Het
Cep120	T	A	18: 53,721,698	H455L	probably damaging	Het
Cobl	C	T	11: 12,253,565	V964I	probably benign	Het
Cpt1a	A	T	19: 3,383,800	I761F	possibly damaging	Het
Crk	T	A	11: 75,679,463	Y14N	probably damaging	Het
Deup1	A	T	9: 15,575,191	Y398N	possibly damaging	Het
Epha3	C	T	16: 63,546,147	G980D	possibly damaging	Het
Fam196a	A	T	7: 134,884,416	F469I	probably damaging	Het
Fanca	A	G	8: 123,303,945		probably benign	Het
Gbp4	T	A	5: 105,119,532	D507V	probably benign	Het
Gtf2i	A	T	5: 134,244,832	L740*	probably null	Het
Hmgn2	C	A	4: 133,967,286	A8S	probably benign	Het
Hook2	A	T	8: 84,994,776	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,736,526	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,499,889		probably null	Het
Kbtbd3	G	C	9: 4,316,905	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,531	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,650,290	E96G	possibly damaging	Het
Kptn	A	G	7: 16,123,103	Y172C	probably damaging	Het
Krt86	T	A	15: 101,476,933	M328K	probably benign	Het
Lama1	A	G	17: 67,764,800	D894G	probably benign	Het
Lars2	T	C	9: 123,453,310	V653A	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lhcgr	A	T	17: 88,742,946	V384D	probably damaging	Het
Malrd1	C	T	2: 16,150,810	T2010M	unknown	Het
Maml2	T	A	9: 13,621,114	N541K	probably damaging	Het
Med24	T	C	11: 98,710,281	K585R	possibly damaging	Het
Muc20	G	A	16: 32,794,476	S177L	unknown	Het
Mylk	T	A	16: 34,979,215	F1658L	probably damaging	Het
Obscn	C	T	11: 59,060,850	V4392I	possibly damaging	Het
Olfr744	T	C	14: 50,618,786	L188P	probably damaging	Het
Olfr975	A	G	9: 39,950,679	S31P	probably benign	Het
Pcnx2	A	T	8: 125,801,549	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,126,855	L521P	probably damaging	Het
Pde4a	A	G	9: 21,204,333	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,265,988	L103*	probably null	Het
Pkd2	G	A	5: 104,486,681	R526Q	probably benign	Het
Polr2a	T	C	11: 69,744,079	Y618C	probably damaging	Het
Pramef25	T	A	4: 143,950,880	E43V	probably damaging	Het
Pramel5	T	A	4: 144,271,741	M311L	probably benign	Het
Rbbp8	T	C	18: 11,722,151	F478L	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryk	T	C	9: 102,867,613	V122A	probably benign	Het
Sik3	G	T	9: 46,208,844		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc35e4	T	A	11: 3,912,872	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,633,671	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,394,710	K32N	probably damaging	Het
Spag17	T	C	3: 100,101,388	Y1945H	probably benign	Het
St7	A	G	6: 17,743,637		probably benign	Het
Stab1	C	A	14: 31,140,521		probably benign	Het
Taf13	G	A	3: 108,581,074	R91Q	probably damaging	Het
Tmem200a	T	C	10: 26,078,956		probably benign	Het
Tnc	A	T	4: 63,967,252	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,804,655	H439R	probably damaging	Het
Trpm1	T	C	7: 64,237,693	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,956,034	A831T	probably benign	Het
Wdr89	C	T	12: 75,633,288	R64Q	probably benign	Het
Zbed5	G	T	5: 129,902,178	V323F	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCATTCGATCGTGAACATAAGAC -3'
(R):5'- GGAACTCCAGATGCTTTTGCC -3'

Sequencing Primer
(F):5'- GCATCTTCAAAATGCCATG -3'
(R):5'- AGATGCTTTTGCCCAACTGCTG -3'

Posted On

2016-07-06