Mutagenetix > Incidental Mutation

Incidental Mutation 'R2129:Zeb1'

227891

Institutional Source

Beutler Lab

Gene Symbol

Zeb1

Ensembl Gene

ENSMUSG00000024238

Gene Name

zinc finger E-box binding homeobox 1

Synonyms

Nil2, Tcf18, 3110032K11Rik, Zfhep, ZEB, AREB6, Tcf8, Zfhx1a, MEB1, Tw, [delta]EF1, Zfx1a

MMRRC Submission

040132-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R2129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5591860-5775467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5767681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 731 (S731C)

Ref Sequence

ENSEMBL: ENSMUSP00000025081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025081] [ENSMUST00000159390] [ENSMUST00000175925]

AlphaFold

Q64318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025081
AA Change: S731C

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: S731C

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
ZnF_C2H2	150	173	3.16e-3	SMART
ZnF_C2H2	180	202	3.21e-4	SMART
ZnF_C2H2	220	242	4.87e-4	SMART
ZnF_C2H2	248	268	1.86e1	SMART
low complexity region	288	304	N/A	INTRINSIC
low complexity region	532	555	N/A	INTRINSIC
HOX	559	621	7.53e-3	SMART
low complexity region	730	742	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
ZnF_C2H2	882	904	1.18e-2	SMART
ZnF_C2H2	910	932	4.4e-2	SMART
ZnF_C2H2	938	959	1.89e-1	SMART
coiled coil region	1006	1077	N/A	INTRINSIC
low complexity region	1096	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159390

SMART Domains

Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
ZnF_C2H2	96	119	3.16e-3	SMART
ZnF_C2H2	126	148	3.21e-4	SMART
ZnF_C2H2	166	188	4.87e-4	SMART
ZnF_C2H2	194	214	1.86e1	SMART
low complexity region	234	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162892

SMART Domains

Protein: ENSMUSP00000124677
Gene: ENSMUSG00000024238

Domain	Start	End	E-Value	Type
ZnF_C2H2	94	117	1.3e-5	SMART
ZnF_C2H2	124	146	1.3e-6	SMART
ZnF_C2H2	164	186	2e-6	SMART
ZnF_C2H2	192	212	7.8e-2	SMART
low complexity region	232	248	N/A	INTRINSIC
low complexity region	476	499	N/A	INTRINSIC
HOX	503	565	3.9e-5	SMART
low complexity region	674	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175925

SMART Domains

Protein: ENSMUSP00000135125
Gene: ENSMUSG00000024238

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	153	3.16e-3	SMART
ZnF_C2H2	160	182	3.21e-4	SMART
ZnF_C2H2	200	222	4.87e-4	SMART
ZnF_C2H2	228	248	1.86e1	SMART
low complexity region	268	284	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177030

SMART Domains

Protein: ENSMUSP00000135865
Gene: ENSMUSG00000024238

Domain	Start	End	E-Value	Type
ZnF_C2H2	22	44	4.87e-4	SMART
low complexity region	277	300	N/A	INTRINSIC
HOX	304	366	7.53e-3	SMART
low complexity region	475	487	N/A	INTRINSIC
low complexity region	511	528	N/A	INTRINSIC
ZnF_C2H2	627	649	1.18e-2	SMART
ZnF_C2H2	655	677	4.4e-2	SMART
ZnF_C2H2	683	704	1.89e-1	SMART
low complexity region	758	775	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (91/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mutations at this locus affect thymus organization and homozygotes exhibit severe thymic T cell deficiency. Some mutations result in eye anomalies and extensive skeletal abnormalities. Homozygotes generally die at birth due to respiratory failure. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,066 (GRCm39)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,293,349 (GRCm39)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 159,902,945 (GRCm39)	K72*	probably null	Het
Abhd14a	A	T	9: 106,318,064 (GRCm39)	L125Q	probably null	Het
Abhd17b	T	A	19: 21,658,413 (GRCm39)		probably null	Het
Abo	G	A	2: 26,736,586 (GRCm39)	T61I	probably benign	Het
Adamts15	T	C	9: 30,815,799 (GRCm39)	T686A	probably benign	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Anxa2	A	T	9: 69,383,410 (GRCm39)	Y75F	possibly damaging	Het
Aqp3	T	A	4: 41,098,061 (GRCm39)	I17F	probably benign	Het
Aspm	T	C	1: 139,385,373 (GRCm39)	V339A	probably benign	Het
Bri3bp	T	A	5: 125,528,735 (GRCm39)	L48*	probably null	Het
Car7	T	A	8: 105,275,605 (GRCm39)	C185S	possibly damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm39)	Y399H	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chst10	A	G	1: 38,904,776 (GRCm39)	Y203H	probably benign	Het
Clca3a1	T	C	3: 144,722,526 (GRCm39)	D282G	probably damaging	Het
Coq3	T	G	4: 21,900,342 (GRCm39)	S190A	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Cygb	A	G	11: 116,540,668 (GRCm39)	L106P	probably damaging	Het
Dab2	G	T	15: 6,365,864 (GRCm39)	E87*	probably null	Het
Dcst1	T	A	3: 89,264,852 (GRCm39)	I299F	probably damaging	Het
Dennd4a	T	G	9: 64,813,256 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,558,518 (GRCm39)	S168P	probably benign	Het
Dicer1	G	A	12: 104,688,290 (GRCm39)	T429I	probably damaging	Het
Dnah5	A	G	15: 28,408,467 (GRCm39)	Q3484R	probably benign	Het
Dock2	T	C	11: 34,618,242 (GRCm39)	M125V	probably damaging	Het
Dync2h1	A	G	9: 7,175,289 (GRCm39)	S107P	possibly damaging	Het
Emb	T	C	13: 117,404,082 (GRCm39)	V278A	probably damaging	Het
Firrm	T	C	1: 163,794,026 (GRCm39)	Y518C	probably damaging	Het
Foxk1	C	A	5: 142,420,943 (GRCm39)	S189*	probably null	Het
Galm	T	C	17: 80,490,647 (GRCm39)	I268T	probably benign	Het
Gm5581	A	C	6: 131,145,247 (GRCm39)		noncoding transcript	Het
Gpr6	G	A	10: 40,947,168 (GRCm39)	S138L	possibly damaging	Het
Hesx1	C	A	14: 26,722,802 (GRCm39)	H42Q	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,570 (GRCm39)	D421G	probably damaging	Het
Kctd19	T	C	8: 106,111,804 (GRCm39)	T31A	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krtap19-3	T	C	16: 88,674,863 (GRCm39)		probably benign	Het
Lin28a	T	A	4: 133,745,465 (GRCm39)	I43F	probably benign	Het
Lrriq1	G	A	10: 103,050,718 (GRCm39)	T678I	probably benign	Het
Macf1	A	G	4: 123,262,608 (GRCm39)		probably benign	Het
Madcam1	A	G	10: 79,501,406 (GRCm39)	E157G	possibly damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Megf8	T	C	7: 25,030,140 (GRCm39)	L425P	probably damaging	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Mybpc1	T	G	10: 88,387,314 (GRCm39)	T466P	probably damaging	Het
Myo10	T	C	15: 25,781,885 (GRCm39)	Y1127H	probably benign	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Myo9b	T	C	8: 71,786,343 (GRCm39)	Y670H	probably damaging	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm39)	D55Y	probably damaging	Het
Neurod2	G	T	11: 98,218,414 (GRCm39)	A250E	possibly damaging	Het
Nherf1	A	T	11: 115,067,270 (GRCm39)	I174F	probably damaging	Het
Nipsnap1	C	A	11: 4,838,932 (GRCm39)	N119K	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Or10ab4	T	A	7: 107,655,111 (GRCm39)	N307K	probably benign	Het
Or11h23	A	G	14: 50,948,093 (GRCm39)	Y102C	probably damaging	Het
Or2t48	T	C	11: 58,420,437 (GRCm39)	D125G	probably damaging	Het
Pald1	A	G	10: 61,184,085 (GRCm39)		probably null	Het
Palld	T	C	8: 62,330,395 (GRCm39)	S161G	probably benign	Het
Paqr9	T	A	9: 95,443,122 (GRCm39)	F371I	probably benign	Het
Pear1	A	T	3: 87,665,666 (GRCm39)	C120*	probably null	Het
Pla2g4e	A	T	2: 120,013,292 (GRCm39)	F343I	probably damaging	Het
Plxdc2	A	T	2: 16,516,902 (GRCm39)	Y61F	probably benign	Het
Polh	G	A	17: 46,499,014 (GRCm39)	Q234*	probably null	Het
Prkce	T	A	17: 86,803,463 (GRCm39)	M454K	possibly damaging	Het
Proser1	C	A	3: 53,385,366 (GRCm39)	T416K	probably benign	Het
Prr14l	G	T	5: 32,989,172 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,566,527 (GRCm39)	D90E	probably benign	Het
Rp1l1	T	A	14: 64,266,415 (GRCm39)	V667D	possibly damaging	Het
Rpp40	A	T	13: 36,082,604 (GRCm39)	C256*	probably null	Het
Rps6ka5	A	G	12: 100,644,797 (GRCm39)	L51P	probably damaging	Het
Rtp2	C	T	16: 23,746,457 (GRCm39)	C78Y	probably damaging	Het
Ryr3	A	G	2: 112,508,715 (GRCm39)		probably benign	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc6a21	T	G	7: 44,932,197 (GRCm39)		probably null	Het
Smo	A	G	6: 29,757,313 (GRCm39)	Y476C	probably damaging	Het
Tacr3	A	T	3: 134,560,621 (GRCm39)	T187S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tasp1	T	C	2: 139,890,164 (GRCm39)	K71E	possibly damaging	Het
Tg	A	G	15: 66,566,743 (GRCm39)	I1264V	probably benign	Het
Tmem41a	T	C	16: 21,764,911 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,793,105 (GRCm39)	N459D	probably benign	Het
Ube2k	A	G	5: 65,752,269 (GRCm39)	T151A	probably damaging	Het
Ubr1	T	C	2: 120,773,034 (GRCm39)	E402G	probably benign	Het
Ulk4	T	A	9: 120,981,248 (GRCm39)	I897F	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Utp20	A	G	10: 88,649,917 (GRCm39)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,804,782 (GRCm39)	S142G	probably benign	Het
Wdr17	C	T	8: 55,085,416 (GRCm39)	V1236M	probably damaging	Het
Zbtb32	T	C	7: 30,290,918 (GRCm39)	K126E	possibly damaging	Het

Other mutations in Zeb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Zeb1	APN	18	5,767,774 (GRCm39)	missense	probably benign	0.00
IGL01139:Zeb1	APN	18	5,705,061 (GRCm39)	missense	possibly damaging	0.69
IGL01444:Zeb1	APN	18	5,767,138 (GRCm39)	missense	probably benign
IGL01444:Zeb1	APN	18	5,767,906 (GRCm39)	missense	probably damaging	1.00
IGL01806:Zeb1	APN	18	5,767,867 (GRCm39)	missense	possibly damaging	0.94
IGL01988:Zeb1	APN	18	5,759,037 (GRCm39)	nonsense	probably null
IGL02059:Zeb1	APN	18	5,766,892 (GRCm39)	missense	probably damaging	1.00
IGL03005:Zeb1	APN	18	5,767,150 (GRCm39)	missense	probably benign	0.03
IGL03153:Zeb1	APN	18	5,770,511 (GRCm39)	missense	probably damaging	1.00
Apes	UTSW	18	5,761,394 (GRCm39)	missense	probably damaging	1.00
cellophane	UTSW	18	5,770,554 (GRCm39)	nonsense	probably null
serpens	UTSW	18	5,772,455 (GRCm39)	missense	probably damaging	1.00
N/A - 293:Zeb1	UTSW	18	5,767,076 (GRCm39)	missense	possibly damaging	0.68
R0184:Zeb1	UTSW	18	5,766,808 (GRCm39)	missense	probably damaging	1.00
R0488:Zeb1	UTSW	18	5,772,455 (GRCm39)	missense	probably damaging	1.00
R0622:Zeb1	UTSW	18	5,759,123 (GRCm39)	nonsense	probably null
R0646:Zeb1	UTSW	18	5,759,027 (GRCm39)	missense	probably damaging	1.00
R0881:Zeb1	UTSW	18	5,767,138 (GRCm39)	missense	probably benign
R1251:Zeb1	UTSW	18	5,705,089 (GRCm39)	missense	probably damaging	1.00
R1257:Zeb1	UTSW	18	5,772,699 (GRCm39)	missense	possibly damaging	0.53
R1501:Zeb1	UTSW	18	5,761,399 (GRCm39)	missense	possibly damaging	0.95
R1547:Zeb1	UTSW	18	5,767,450 (GRCm39)	missense	possibly damaging	0.50
R1797:Zeb1	UTSW	18	5,766,298 (GRCm39)	nonsense	probably null
R1815:Zeb1	UTSW	18	5,767,898 (GRCm39)	missense	probably damaging	1.00
R2090:Zeb1	UTSW	18	5,766,458 (GRCm39)	missense	possibly damaging	0.65
R2875:Zeb1	UTSW	18	5,772,859 (GRCm39)	small insertion	probably benign
R3888:Zeb1	UTSW	18	5,748,743 (GRCm39)	missense	probably damaging	1.00
R3941:Zeb1	UTSW	18	5,767,799 (GRCm39)	missense	probably benign	0.06
R3952:Zeb1	UTSW	18	5,772,716 (GRCm39)	missense	probably benign	0.17
R4271:Zeb1	UTSW	18	5,758,985 (GRCm39)	missense	probably damaging	0.99
R4512:Zeb1	UTSW	18	5,759,007 (GRCm39)	missense	probably damaging	1.00
R4514:Zeb1	UTSW	18	5,759,007 (GRCm39)	missense	probably damaging	1.00
R4677:Zeb1	UTSW	18	5,766,775 (GRCm39)	missense	probably damaging	0.97
R4729:Zeb1	UTSW	18	5,767,286 (GRCm39)	missense	probably damaging	1.00
R5839:Zeb1	UTSW	18	5,767,507 (GRCm39)	missense	probably benign
R5913:Zeb1	UTSW	18	5,766,765 (GRCm39)	missense	possibly damaging	0.49
R6248:Zeb1	UTSW	18	5,766,962 (GRCm39)	missense	probably damaging	1.00
R6354:Zeb1	UTSW	18	5,772,743 (GRCm39)	missense	possibly damaging	0.64
R6429:Zeb1	UTSW	18	5,770,498 (GRCm39)	missense	probably damaging	1.00
R6819:Zeb1	UTSW	18	5,591,917 (GRCm39)	missense	probably damaging	1.00
R7180:Zeb1	UTSW	18	5,767,867 (GRCm39)	missense	possibly damaging	0.94
R7193:Zeb1	UTSW	18	5,772,756 (GRCm39)	missense	probably damaging	0.98
R7199:Zeb1	UTSW	18	5,767,703 (GRCm39)	missense	probably benign	0.00
R7397:Zeb1	UTSW	18	5,761,394 (GRCm39)	missense	probably damaging	1.00
R7534:Zeb1	UTSW	18	5,766,611 (GRCm39)	missense	probably damaging	1.00
R7702:Zeb1	UTSW	18	5,766,802 (GRCm39)	missense	probably damaging	1.00
R7703:Zeb1	UTSW	18	5,766,917 (GRCm39)	missense	probably benign
R7934:Zeb1	UTSW	18	5,748,703 (GRCm39)	missense	probably benign	0.00
R8504:Zeb1	UTSW	18	5,705,127 (GRCm39)	missense	possibly damaging	0.94
R8539:Zeb1	UTSW	18	5,748,784 (GRCm39)	missense	probably damaging	0.99
R8716:Zeb1	UTSW	18	5,767,958 (GRCm39)	missense	probably damaging	0.99
R8772:Zeb1	UTSW	18	5,770,382 (GRCm39)	critical splice acceptor site	probably null
R8824:Zeb1	UTSW	18	5,748,680 (GRCm39)	splice site	probably benign
R9082:Zeb1	UTSW	18	5,772,557 (GRCm39)	missense	probably damaging	0.98
R9085:Zeb1	UTSW	18	5,766,716 (GRCm39)	missense	probably damaging	1.00
R9456:Zeb1	UTSW	18	5,766,709 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTAGGATCAGCCATGAACG -3'
(R):5'- ACACTGTTCTGGTCAGCAATG -3'

Sequencing Primer
(F):5'- TAGGATCAGCCATGAACGGTTCC -3'
(R):5'- TCAGCAATGGCCACGATTGTG -3'

Posted On

2014-09-17