Incidental Mutation 'IGL00833:Zeb1'
ID |
14923 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.959)
|
Stock # |
IGL00833
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
5591860-5775467 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5767774 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 762
(T762A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
[ENSMUST00000159390]
[ENSMUST00000175925]
|
AlphaFold |
Q64318 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025081
AA Change: T762A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000025081 Gene: ENSMUSG00000024238 AA Change: T762A
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 |
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3a1 |
A |
G |
11: 61,217,180 |
E350G |
probably damaging |
Het |
Apob |
T |
C |
12: 8,010,101 |
V2861A |
probably benign |
Het |
Bpifb9a |
C |
T |
2: 154,264,275 |
Q358* |
probably null |
Het |
Cbfa2t2 |
T |
A |
2: 154,528,875 |
Y423N |
probably damaging |
Het |
Cd209e |
A |
C |
8: 3,852,800 |
M102R |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,231,178 |
V173D |
possibly damaging |
Het |
Dnah11 |
A |
G |
12: 118,179,580 |
F443L |
probably damaging |
Het |
Exoc4 |
G |
A |
6: 33,971,924 |
E901K |
probably damaging |
Het |
Gp5 |
T |
C |
16: 30,309,466 |
D130G |
possibly damaging |
Het |
H2-T3 |
T |
G |
17: 36,187,041 |
S327R |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,338,778 |
I417T |
probably damaging |
Het |
Nasp |
A |
G |
4: 116,602,736 |
V377A |
probably damaging |
Het |
Nbn |
A |
G |
4: 15,964,320 |
I132V |
probably benign |
Het |
Nckap5 |
C |
A |
1: 126,027,152 |
K622N |
probably damaging |
Het |
Nlrp4e |
G |
A |
7: 23,340,471 |
V740I |
probably benign |
Het |
Polr3gl |
T |
G |
3: 96,578,560 |
D130A |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,078,492 |
K784R |
possibly damaging |
Het |
Sycp1 |
A |
G |
3: 102,876,301 |
|
probably null |
Het |
Tg |
C |
T |
15: 66,688,801 |
T1004I |
probably benign |
Het |
Tmco5b |
T |
A |
2: 113,296,849 |
I255N |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,393,159 |
|
probably null |
Het |
Zfp345 |
T |
C |
2: 150,472,729 |
E296G |
probably damaging |
Het |
|
Other mutations in Zeb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6248:Zeb1
|
UTSW |
18 |
5766962 |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2012-12-06 |