Incidental Mutation 'IGL01139:Zeb1'
| ID |
53201 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL01139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5705061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 26
(V26A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
[ENSMUST00000159390]
[ENSMUST00000160910]
[ENSMUST00000175925]
|
| AlphaFold |
Q64318 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025081
AA Change: V26A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: V26A
| 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
AA Change: V26A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238
AA Change: V26A
| 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 |
noncoding transcript
Transcript: ENSMUST00000160522
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160910
AA Change: V9A
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124815
Gene: ENSMUSG00000024238
AA Change: V9A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
133 |
153 |
1.2e1 |
SMART |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000175925
AA Change: V26A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135125
Gene: ENSMUSG00000024238
AA Change: V26A
| 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: ENSMUST00000177070
|
| SMART Domains |
Protein: ENSMUSP00000135543
Gene: ENSMUSG00000024238
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
130 |
153 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
3.21e-4 |
SMART |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,259 (GRCm39) |
Y297* |
probably null |
Het |
| Actr3 |
A |
T |
1: 125,333,622 (GRCm39) |
I215N |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,612,376 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
T |
A |
7: 24,625,376 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,421,308 (GRCm39) |
S832R |
unknown |
Het |
| Clca4a |
A |
T |
3: 144,672,030 (GRCm39) |
I304N |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,366,248 (GRCm39) |
P274S |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,143 (GRCm39) |
D211E |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,960 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
C |
T |
18: 25,199,401 (GRCm39) |
P691S |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,945,989 (GRCm38) |
S2465G |
probably damaging |
Het |
| Ftsj1 |
G |
A |
X: 8,112,831 (GRCm39) |
R171C |
probably damaging |
Het |
| Glb1l3 |
G |
A |
9: 26,729,523 (GRCm39) |
T648I |
probably benign |
Het |
| Gm4222 |
T |
A |
2: 89,978,889 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
G |
A |
15: 100,322,096 (GRCm39) |
|
probably benign |
Het |
| Jaml |
C |
A |
9: 45,012,317 (GRCm39) |
T268N |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,549,969 (GRCm39) |
T217A |
possibly damaging |
Het |
| Ltn1 |
A |
G |
16: 87,212,897 (GRCm39) |
S555P |
probably benign |
Het |
| Map3k15 |
T |
A |
X: 158,855,875 (GRCm39) |
M350K |
probably damaging |
Het |
| Mipol1 |
C |
A |
12: 57,352,821 (GRCm39) |
Y53* |
probably null |
Het |
| Mn1 |
A |
G |
5: 111,569,315 (GRCm39) |
D1095G |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,255,716 (GRCm39) |
|
probably benign |
Het |
| Nrn1 |
A |
G |
13: 36,914,190 (GRCm39) |
C31R |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,007,079 (GRCm39) |
L579H |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,851,145 (GRCm39) |
I578V |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,969,178 (GRCm39) |
A172V |
probably damaging |
Het |
| Or10h1b |
T |
A |
17: 33,395,756 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or9g4 |
T |
G |
2: 85,504,841 (GRCm39) |
Y218S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,912,918 (GRCm39) |
D748G |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,361,187 (GRCm39) |
Y863N |
probably damaging |
Het |
| Psmc6 |
C |
T |
14: 45,581,167 (GRCm39) |
T321I |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,756,825 (GRCm39) |
*31W |
probably null |
Het |
| Rictor |
A |
C |
15: 6,807,749 (GRCm39) |
K791Q |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,321,104 (GRCm39) |
M470I |
probably damaging |
Het |
| Tex28 |
A |
T |
X: 73,194,830 (GRCm39) |
M367K |
possibly damaging |
Het |
| Thnsl2 |
A |
T |
6: 71,115,718 (GRCm39) |
V163D |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,887 (GRCm39) |
R633Q |
possibly damaging |
Het |
| Trf |
A |
T |
9: 103,100,803 (GRCm39) |
V224D |
probably damaging |
Het |
| Ttc8 |
C |
T |
12: 98,930,804 (GRCm39) |
Q273* |
probably null |
Het |
| Usp9x |
A |
G |
X: 12,970,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,778 (GRCm39) |
W210R |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,826 (GRCm39) |
S718P |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,989 (GRCm39) |
D2932G |
probably damaging |
Het |
| Whamm |
T |
C |
7: 81,245,662 (GRCm39) |
L706P |
probably damaging |
Het |
| Yeats2 |
G |
A |
16: 20,033,143 (GRCm39) |
V45I |
probably damaging |
Het |
| Yipf3 |
G |
A |
17: 46,561,383 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R2129:Zeb1
|
UTSW |
18 |
5,767,681 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation