Mutagenetix > Incidental Mutation

Incidental Mutation 'R6402:Zeb2'

516189

Institutional Source

Beutler Lab

Gene Symbol

Zeb2

Ensembl Gene

ENSMUSG00000026872

Gene Name

zinc finger E-box binding homeobox 2

Synonyms

SIP1, D130016B08Rik, 9130203F04Rik, Zfhx1b, Zfx1b

MMRRC Submission

044419-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44873644-45007407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44886987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 675 (T675I)

Ref Sequence

ENSEMBL: ENSMUSP00000144637 (fasta)

Gene Model

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

AlphaFold

Q9R0G7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028229
AA Change: T690I

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: T690I

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: T646I

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

SMART Domains

Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: T646I

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: ENSMUST00000076836
AA Change: T645I

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: T645I

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: T646I

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

SMART Domains

Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: T646I

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: T646I

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

SMART Domains

Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: T646I

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: T622I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: T622I

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 damaging
Transcript: ENSMUST00000201804
AA Change: T675I

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

SMART Domains

Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: T675I

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: 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 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: ENSMUST00000202432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209076

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	A	9: 103,976,144 (GRCm39)	I268F	possibly damaging	Het
Adck2	T	C	6: 39,563,803 (GRCm39)	V514A	possibly damaging	Het
Catsper1	G	T	19: 5,389,524 (GRCm39)	G480W	probably damaging	Het
Cbarp	A	G	10: 79,970,956 (GRCm39)	I247T	probably benign	Het
Cdc14a	A	G	3: 116,142,108 (GRCm39)	Y172H	probably damaging	Het
Creld2	C	T	15: 88,707,344 (GRCm39)	R221C	probably damaging	Het
Dmac1	C	T	4: 75,196,217 (GRCm39)		probably null	Het
Epsti1	A	G	14: 78,177,318 (GRCm39)	E166G	probably damaging	Het
Hus1	A	G	11: 8,960,407 (GRCm39)	F64S	probably damaging	Het
Kansl1l	T	A	1: 66,801,352 (GRCm39)	H538L	probably damaging	Het
Map4k2	T	C	19: 6,394,111 (GRCm39)		probably null	Het
Mettl8	A	T	2: 70,796,805 (GRCm39)	Y98*	probably null	Het
Naip6	G	T	13: 100,437,226 (GRCm39)	H432Q	probably benign	Het
Sirt4	C	T	5: 115,618,370 (GRCm39)	V235M	probably damaging	Het
Skic3	A	G	13: 76,283,389 (GRCm39)	H827R	probably benign	Het
Slc23a3	T	C	1: 75,105,200 (GRCm39)	N456S	probably damaging	Het
Slc9a1	C	A	4: 133,097,962 (GRCm39)	H36Q	probably benign	Het
Spink14	A	G	18: 44,164,041 (GRCm39)	T70A	probably damaging	Het
Stambpl1	C	A	19: 34,211,539 (GRCm39)	P200Q	probably benign	Het
Trio	T	A	15: 27,902,997 (GRCm39)	I155L	probably benign	Het
Vmn1r51	T	C	6: 90,106,444 (GRCm39)	V120A	probably benign	Het
Wac	A	G	18: 7,901,585 (GRCm39)	S77G	possibly damaging	Het

Other mutations in Zeb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Zeb2	APN	2	44,887,287 (GRCm39)	missense	probably damaging	1.00
IGL01639:Zeb2	APN	2	44,887,269 (GRCm39)	missense	probably benign
IGL02016:Zeb2	APN	2	44,878,886 (GRCm39)	missense	possibly damaging	0.71
IGL02337:Zeb2	APN	2	44,887,242 (GRCm39)	missense	probably damaging	0.96
IGL02745:Zeb2	APN	2	44,884,487 (GRCm39)	unclassified	probably benign
IGL02893:Zeb2	APN	2	44,886,619 (GRCm39)	missense	probably benign	0.03
IGL03412:Zeb2	APN	2	44,892,720 (GRCm39)	intron	probably benign
Blight	UTSW	2	45,000,040 (GRCm39)	missense	possibly damaging	0.95
Dropped	UTSW	2	45,000,053 (GRCm39)	missense	possibly damaging	0.66
Okapi	UTSW	2	44,887,168 (GRCm39)	missense	probably damaging	1.00
sable	UTSW	2	44,887,330 (GRCm39)	missense	probably damaging	1.00
R0514:Zeb2	UTSW	2	44,892,659 (GRCm39)	missense	possibly damaging	0.52
R0603:Zeb2	UTSW	2	44,907,438 (GRCm39)	missense	probably benign	0.45
R0608:Zeb2	UTSW	2	44,886,138 (GRCm39)	missense	possibly damaging	0.87
R1236:Zeb2	UTSW	2	44,884,658 (GRCm39)	missense	probably damaging	1.00
R1529:Zeb2	UTSW	2	44,887,206 (GRCm39)	missense	probably damaging	1.00
R1581:Zeb2	UTSW	2	44,887,012 (GRCm39)	missense	probably damaging	0.99
R1636:Zeb2	UTSW	2	44,892,623 (GRCm39)	missense	probably damaging	1.00
R1924:Zeb2	UTSW	2	44,892,624 (GRCm39)	missense	probably damaging	1.00
R2012:Zeb2	UTSW	2	44,887,962 (GRCm39)	missense	probably damaging	1.00
R2097:Zeb2	UTSW	2	44,887,168 (GRCm39)	missense	probably damaging	1.00
R2156:Zeb2	UTSW	2	44,878,821 (GRCm39)	missense	probably benign	0.20
R4385:Zeb2	UTSW	2	44,913,074 (GRCm39)	missense	probably damaging	1.00
R4472:Zeb2	UTSW	2	44,913,023 (GRCm39)	missense	probably damaging	1.00
R4678:Zeb2	UTSW	2	44,886,353 (GRCm39)	missense	probably damaging	0.99
R4769:Zeb2	UTSW	2	44,886,447 (GRCm39)	missense	probably damaging	1.00
R4816:Zeb2	UTSW	2	44,887,780 (GRCm39)	missense	probably damaging	0.99
R4918:Zeb2	UTSW	2	44,886,894 (GRCm39)	missense	probably damaging	1.00
R4969:Zeb2	UTSW	2	44,888,931 (GRCm39)	missense	probably damaging	1.00
R5191:Zeb2	UTSW	2	44,892,612 (GRCm39)	missense	probably benign	0.00
R5195:Zeb2	UTSW	2	44,891,647 (GRCm39)	missense	probably damaging	1.00
R5322:Zeb2	UTSW	2	44,887,107 (GRCm39)	missense	probably damaging	1.00
R5699:Zeb2	UTSW	2	44,887,800 (GRCm39)	missense	probably damaging	1.00
R5750:Zeb2	UTSW	2	44,887,530 (GRCm39)	missense	probably damaging	0.96
R5764:Zeb2	UTSW	2	44,886,931 (GRCm39)	missense	possibly damaging	0.89
R5914:Zeb2	UTSW	2	44,887,064 (GRCm39)	missense	probably benign	0.00
R5918:Zeb2	UTSW	2	45,001,271 (GRCm39)	intron	probably benign
R6037:Zeb2	UTSW	2	44,878,652 (GRCm39)	nonsense	probably null
R6037:Zeb2	UTSW	2	44,878,652 (GRCm39)	nonsense	probably null
R6302:Zeb2	UTSW	2	44,887,771 (GRCm39)	missense	probably benign	0.18
R6372:Zeb2	UTSW	2	44,892,551 (GRCm39)	missense	probably damaging	1.00
R6492:Zeb2	UTSW	2	45,000,508 (GRCm39)	intron	probably benign
R6554:Zeb2	UTSW	2	44,887,524 (GRCm39)	missense	probably damaging	1.00
R6675:Zeb2	UTSW	2	44,887,457 (GRCm39)	nonsense	probably null
R6735:Zeb2	UTSW	2	45,000,028 (GRCm39)	missense	probably null	0.99
R6870:Zeb2	UTSW	2	44,878,922 (GRCm39)	missense	probably damaging	0.98
R6925:Zeb2	UTSW	2	44,884,541 (GRCm39)	missense	probably damaging	1.00
R6963:Zeb2	UTSW	2	44,878,811 (GRCm39)	missense	probably damaging	0.97
R6972:Zeb2	UTSW	2	44,887,330 (GRCm39)	missense	probably damaging	1.00
R7144:Zeb2	UTSW	2	45,000,053 (GRCm39)	missense	possibly damaging	0.66
R7178:Zeb2	UTSW	2	44,887,006 (GRCm39)	missense	probably damaging	0.97
R7379:Zeb2	UTSW	2	44,891,829 (GRCm39)	splice site	probably null
R7419:Zeb2	UTSW	2	44,886,359 (GRCm39)	missense	probably benign	0.20
R7580:Zeb2	UTSW	2	44,884,544 (GRCm39)	missense	probably damaging	1.00
R7599:Zeb2	UTSW	2	44,884,625 (GRCm39)	missense	probably damaging	1.00
R7625:Zeb2	UTSW	2	44,892,584 (GRCm39)	missense	probably damaging	1.00
R7917:Zeb2	UTSW	2	44,886,421 (GRCm39)	missense	possibly damaging	0.50
R8132:Zeb2	UTSW	2	44,879,142 (GRCm39)	missense	probably damaging	1.00
R8412:Zeb2	UTSW	2	44,888,964 (GRCm39)	missense	probably damaging	1.00
R8413:Zeb2	UTSW	2	44,886,183 (GRCm39)	missense	probably damaging	0.99
R8417:Zeb2	UTSW	2	44,913,008 (GRCm39)	missense	probably damaging	0.99
R8750:Zeb2	UTSW	2	44,887,939 (GRCm39)	missense	probably damaging	1.00
R8865:Zeb2	UTSW	2	44,886,139 (GRCm39)	missense	probably benign	0.02
R8916:Zeb2	UTSW	2	44,886,796 (GRCm39)	missense	probably damaging	0.99
R9068:Zeb2	UTSW	2	45,000,040 (GRCm39)	missense	possibly damaging	0.95
R9094:Zeb2	UTSW	2	45,003,136 (GRCm39)	intron	probably benign
R9139:Zeb2	UTSW	2	44,878,637 (GRCm39)	missense	possibly damaging	0.52
R9187:Zeb2	UTSW	2	45,000,040 (GRCm39)	missense	possibly damaging	0.95
R9309:Zeb2	UTSW	2	44,892,575 (GRCm39)	missense	probably damaging	0.99
R9310:Zeb2	UTSW	2	44,886,988 (GRCm39)	missense	probably benign	0.01
R9337:Zeb2	UTSW	2	44,912,912 (GRCm39)	missense	probably benign	0.35
R9350:Zeb2	UTSW	2	44,887,158 (GRCm39)	missense	possibly damaging	0.79
R9371:Zeb2	UTSW	2	44,888,912 (GRCm39)	missense	probably damaging	1.00
R9389:Zeb2	UTSW	2	44,887,920 (GRCm39)	missense	probably damaging	1.00
R9509:Zeb2	UTSW	2	44,887,876 (GRCm39)	missense	possibly damaging	0.74
R9600:Zeb2	UTSW	2	44,987,180 (GRCm39)	missense	unknown
R9674:Zeb2	UTSW	2	44,891,725 (GRCm39)	missense	probably damaging	1.00
R9756:Zeb2	UTSW	2	44,887,414 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- AACGGCTTGGAGGTCCTTTC -3'
(R):5'- TTCATGCCAGTTCTGTAAAGAAAGC -3'

Sequencing Primer
(F):5'- TGGTGACCTGGAATTCGAATAC -3'
(R):5'- CAGTTCTGTAAAGAAAGCTTCCCGG -3'

Posted On

2018-05-04