Mutagenetix > Incidental Mutation

Incidental Mutation 'R6248:Zeb1'

505648

Institutional Source

Beutler Lab

Gene Symbol

Zeb1

Ensembl Gene

ENSMUSG00000024238

Gene Name

zinc finger E-box binding homeobox 1

Synonyms

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

Accession Numbers

Genbank: NM_011546; MGI: 1344313

Is this an essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5591860-5775467 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5766962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 491 (D491G)

Ref Sequence

ENSEMBL: ENSMUSP00000025081 (fasta)

Gene Model

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

AlphaFold

Q64318

Predicted Effect

probably damaging
Transcript: ENSMUST00000025081
AA Change: D491G

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

SMART Domains

Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: D491G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 160,075,408	S83P	possibly damaging	Het
Actr10	A	T	12: 70,952,959	E176D	probably benign	Het
Adcy3	G	A	12: 4,208,662		probably null	Het
AI429214	T	A	8: 36,994,124	I142N	probably damaging	Het
Alox12	A	G	11: 70,253,110	L148S	probably damaging	Het
Ank3	A	G	10: 69,973,850	I1147V	probably benign	Het
Apoc2	C	T	7: 19,673,568	V12I	probably benign	Het
Arap3	T	C	18: 37,991,354	S311G	probably benign	Het
Arih2	G	T	9: 108,611,642	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,308,194	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,714	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,408,855	N118K	probably damaging	Het
Cntnap5b	A	G	1: 100,072,102	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,562,731		probably null	Het
Cyp4f37	A	G	17: 32,629,890	D244G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dido1	T	A	2: 180,660,255	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,794,219		probably null	Het
Dnal4	T	A	15: 79,762,513	M56L	probably damaging	Het
Emilin2	A	G	17: 71,274,117	V538A	probably benign	Het
Eps8l2	A	G	7: 141,342,102	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479	L112*	probably null	Het
Etl4	C	T	2: 20,809,089	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,182,281	F510L	probably benign	Het
Fam114a2	G	T	11: 57,493,116	T324K	possibly damaging	Het
Fer1l4	G	A	2: 156,046,171	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,459,212	S2R	probably benign	Het
Fscn1	A	T	5: 142,961,023	D192V	possibly damaging	Het
Gm15922	C	A	7: 3,736,338	E510D	probably benign	Het
Gm3486	T	A	14: 41,484,515	*200C	probably null	Het
Gusb	A	T	5: 130,000,525	H138Q	probably benign	Het
Hdac9	A	T	12: 34,528,294	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,318,705	R439L	probably benign	Het
Hoxd9	A	G	2: 74,698,636	E194G	probably benign	Het
Itgb1	A	G	8: 128,722,421	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,509,478	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,147,049	S727L	possibly damaging	Het
Klhdc4	A	G	8: 121,813,768	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,619,174	V62A	probably damaging	Het
Krit1	A	G	5: 3,813,032		probably null	Het
Krt40	A	G	11: 99,541,740	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,158,702	T464A	probably benign	Het
Lrrc52	T	G	1: 167,466,395	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,518,680	V35F	probably damaging	Het
Mccc1	A	G	3: 35,990,164	V171A	probably damaging	Het
Metap1d	A	T	2: 71,515,760	R222*	probably null	Het
Mrgpre	G	A	7: 143,780,866	A300V	probably benign	Het
Mterf1b	C	A	5: 4,196,606	N82K	probably benign	Het
Myh9	C	T	15: 77,785,222	W533*	probably null	Het
Myom2	A	G	8: 15,098,472		probably null	Het
Ncor1	G	A	11: 62,366,982	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,196,492		probably benign	Het
Olfr1348	A	T	7: 6,501,676	C183*	probably null	Het
Olfr1361	A	T	13: 21,659,074	I83N	possibly damaging	Het
Olfr417	T	G	1: 174,369,670	V251G	probably benign	Het
Olfr47	C	T	6: 43,235,904	Q99*	probably null	Het
Olfr551	T	C	7: 102,588,030	T238A	probably benign	Het
Olfr800	A	G	10: 129,660,663	I286V	probably benign	Het
Olfr96	T	A	17: 37,225,560	L145*	probably null	Het
Pcdha11	T	C	18: 37,005,897	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,506,232	F604I	probably damaging	Het
Pde1a	T	C	2: 79,878,201	H291R	probably damaging	Het
Pfkm	G	A	15: 98,126,379	V423M	probably damaging	Het
Pkd2l1	G	T	19: 44,157,669	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,529,559	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,872,587	T282I	probably damaging	Het
Prpf39	A	C	12: 65,042,754	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,710,338	F743L	probably damaging	Het
Raver2	A	G	4: 101,134,123		probably null	Het
Ric8b	T	C	10: 84,947,845	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,668,392	F13L	probably benign	Het
Scd2	T	C	19: 44,303,009	F296L	probably damaging	Het
Scg2	G	T	1: 79,436,306	D233E	probably benign	Het
Sema5b	C	A	16: 35,628,007		probably null	Het
Skint5	A	T	4: 113,779,089	V644E	unknown	Het
Slc44a5	G	T	3: 154,264,041	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,235	R107*	probably null	Het
Sun5	G	T	2: 153,860,669	T189K	probably damaging	Het
Tap1	A	T	17: 34,193,177	E452V	probably damaging	Het
Tcam1	A	G	11: 106,282,826	N32S	probably benign	Het
Tep1	T	C	14: 50,830,258	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,636,370	R557H	probably damaging	Het
Tmem175	T	C	5: 108,645,955	V317A	probably damaging	Het
Tsga13	A	G	6: 30,897,204	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,971	S126P	probably damaging	Het
Uvrag	G	T	7: 98,988,191	D143E	probably damaging	Het
Vmn1r230	T	A	17: 20,846,774	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,545,287	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,399,860	T822A	probably benign	Het
Vmn2r67	T	C	7: 85,150,560	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,783,185	W644R	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp831	A	T	2: 174,644,515	T328S	possibly damaging	Het

Other mutations in Zeb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Zeb1	APN	18	5767774	missense	probably benign	0.00
IGL01139:Zeb1	APN	18	5705061	missense	possibly damaging	0.69
IGL01444:Zeb1	APN	18	5767906	missense	probably damaging	1.00
IGL01444:Zeb1	APN	18	5767138	missense	probably benign
IGL01806:Zeb1	APN	18	5767867	missense	possibly damaging	0.94
IGL01988:Zeb1	APN	18	5759037	nonsense	probably null
IGL02059:Zeb1	APN	18	5766892	missense	probably damaging	1.00
IGL03005:Zeb1	APN	18	5767150	missense	probably benign	0.03
IGL03153:Zeb1	APN	18	5770511	missense	probably damaging	1.00
Apes	UTSW	18	5761394	missense	probably damaging	1.00
cellophane	UTSW	18	5770554	nonsense	probably null
serpens	UTSW	18	5772455	missense	probably damaging	1.00
N/A - 293:Zeb1	UTSW	18	5767076	missense	possibly damaging	0.68
R0184:Zeb1	UTSW	18	5766808	missense	probably damaging	1.00
R0488:Zeb1	UTSW	18	5772455	missense	probably damaging	1.00
R0622:Zeb1	UTSW	18	5759123	nonsense	probably null
R0646:Zeb1	UTSW	18	5759027	missense	probably damaging	1.00
R0881:Zeb1	UTSW	18	5767138	missense	probably benign
R1251:Zeb1	UTSW	18	5705089	missense	probably damaging	1.00
R1257:Zeb1	UTSW	18	5772699	missense	possibly damaging	0.53
R1501:Zeb1	UTSW	18	5761399	missense	possibly damaging	0.95
R1547:Zeb1	UTSW	18	5767450	missense	possibly damaging	0.50
R1797:Zeb1	UTSW	18	5766298	nonsense	probably null
R1815:Zeb1	UTSW	18	5767898	missense	probably damaging	1.00
R2090:Zeb1	UTSW	18	5766458	missense	possibly damaging	0.65
R2129:Zeb1	UTSW	18	5767681	missense	possibly damaging	0.92
R2875:Zeb1	UTSW	18	5772859	small insertion	probably benign
R3888:Zeb1	UTSW	18	5748743	missense	probably damaging	1.00
R3941:Zeb1	UTSW	18	5767799	missense	probably benign	0.06
R3952:Zeb1	UTSW	18	5772716	missense	probably benign	0.17
R4271:Zeb1	UTSW	18	5758985	missense	probably damaging	0.99
R4512:Zeb1	UTSW	18	5759007	missense	probably damaging	1.00
R4514:Zeb1	UTSW	18	5759007	missense	probably damaging	1.00
R4677:Zeb1	UTSW	18	5766775	missense	probably damaging	0.97
R4729:Zeb1	UTSW	18	5767286	missense	probably damaging	1.00
R5839:Zeb1	UTSW	18	5767507	missense	probably benign
R5913:Zeb1	UTSW	18	5766765	missense	possibly damaging	0.49
R6354:Zeb1	UTSW	18	5772743	missense	possibly damaging	0.64
R6429:Zeb1	UTSW	18	5770498	missense	probably damaging	1.00
R6819:Zeb1	UTSW	18	5591917	missense	probably damaging	1.00
R7180:Zeb1	UTSW	18	5767867	missense	possibly damaging	0.94
R7193:Zeb1	UTSW	18	5772756	missense	probably damaging	0.98
R7199:Zeb1	UTSW	18	5767703	missense	probably benign	0.00
R7397:Zeb1	UTSW	18	5761394	missense	probably damaging	1.00
R7534:Zeb1	UTSW	18	5766611	missense	probably damaging	1.00
R7702:Zeb1	UTSW	18	5766802	missense	probably damaging	1.00
R7703:Zeb1	UTSW	18	5766917	missense	probably benign
R7934:Zeb1	UTSW	18	5748703	missense	probably benign	0.00
R8504:Zeb1	UTSW	18	5705127	missense	possibly damaging	0.94
R8539:Zeb1	UTSW	18	5748784	missense	probably damaging	0.99
R8716:Zeb1	UTSW	18	5767958	missense	probably damaging	0.99
R8772:Zeb1	UTSW	18	5770382	critical splice acceptor site	probably null
R8824:Zeb1	UTSW	18	5748680	splice site	probably benign
R9082:Zeb1	UTSW	18	5772557	missense	probably damaging	0.98
R9085:Zeb1	UTSW	18	5766716	missense	probably damaging	1.00
R9274:Zeb1	UTSW	18	5772840	small deletion	probably benign
R9456:Zeb1	UTSW	18	5766709	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGGTGGCCATTCTGTCATTTC -3'
(R):5'- GGCTGACTGGGAGACAAATC -3'

Sequencing Primer
(F):5'- GCCATTCTGTCATTTCTGCCATCAG -3'
(R):5'- CAAATCTCCGTTTCCAGCTGATGAAG -3'

Posted On

2018-02-28