Incidental Mutation 'R2090:Zeb1'
| ID |
231745 |
| 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 |
040095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R2090 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5766458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 323
(V323A)
|
| 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: V323A
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: V323A
| 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: V269A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238
AA Change: V269A
| 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 |
0.0949 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,391,456 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
A |
T |
8: 89,042,485 (GRCm39) |
T451S |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,766,558 (GRCm39) |
T410S |
possibly damaging |
Het |
| Alg11 |
G |
T |
8: 22,555,646 (GRCm39) |
L302F |
possibly damaging |
Het |
| Ankrd17 |
A |
G |
5: 90,445,905 (GRCm39) |
V310A |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,942,575 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
G |
11: 22,786,291 (GRCm39) |
V299A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,969,791 (GRCm39) |
N4258S |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,321 (GRCm39) |
K196E |
probably benign |
Het |
| Calhm6 |
A |
G |
10: 34,002,358 (GRCm39) |
S242P |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,827 (GRCm39) |
K111E |
probably damaging |
Het |
| Crtam |
T |
C |
9: 40,895,612 (GRCm39) |
Q41R |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,160,493 (GRCm39) |
K560R |
possibly damaging |
Het |
| Dcaf15 |
A |
T |
8: 84,824,400 (GRCm39) |
Y571* |
probably null |
Het |
| Defa39 |
A |
T |
8: 22,192,805 (GRCm39) |
W64R |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,304,344 (GRCm39) |
Y99C |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Enpp6 |
A |
T |
8: 47,518,405 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
A |
13: 31,810,824 (GRCm39) |
D254E |
probably benign |
Het |
| Gjb5 |
T |
C |
4: 127,249,794 (GRCm39) |
N117D |
probably benign |
Het |
| Glmn |
G |
A |
5: 107,709,794 (GRCm39) |
L337F |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,698,675 (GRCm39) |
Y307F |
probably benign |
Het |
| Gsdmc3 |
T |
A |
15: 63,738,631 (GRCm39) |
M144L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,603,046 (GRCm39) |
I653T |
probably benign |
Het |
| Il24 |
T |
G |
1: 130,812,574 (GRCm39) |
D99A |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,637,966 (GRCm39) |
Q484R |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,755,674 (GRCm39) |
S283P |
probably benign |
Het |
| Lsp1 |
T |
C |
7: 142,045,544 (GRCm39) |
|
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 139,995,011 (GRCm39) |
S672P |
probably benign |
Het |
| Man2a2 |
A |
T |
7: 80,013,858 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,663,341 (GRCm39) |
H515N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,534,903 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,230 (GRCm39) |
L247P |
probably damaging |
Het |
| Nfkbiz |
A |
T |
16: 55,636,818 (GRCm39) |
F494L |
probably benign |
Het |
| Nr1d1 |
G |
A |
11: 98,661,436 (GRCm39) |
P277S |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,151,496 (GRCm39) |
D682G |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Oasl1 |
G |
A |
5: 115,073,993 (GRCm39) |
D301N |
probably damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,139,762 (GRCm39) |
I230F |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,035,289 (GRCm39) |
I193N |
probably benign |
Het |
| Or5h26 |
A |
G |
16: 58,988,503 (GRCm39) |
M1T |
probably null |
Het |
| Palmd |
A |
G |
3: 116,721,083 (GRCm39) |
S123P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,325,560 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,655 (GRCm39) |
D162G |
probably benign |
Het |
| Plppr5 |
A |
G |
3: 117,369,520 (GRCm39) |
D59G |
possibly damaging |
Het |
| Pmvk |
A |
C |
3: 89,369,189 (GRCm39) |
R11S |
possibly damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,728,901 (GRCm39) |
T363A |
probably benign |
Het |
| Poll |
A |
T |
19: 45,547,277 (GRCm39) |
I65N |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,893,009 (GRCm39) |
S479C |
probably damaging |
Het |
| Prss50 |
A |
T |
9: 110,691,361 (GRCm39) |
S222C |
probably damaging |
Het |
| Rasa3 |
A |
C |
8: 13,632,381 (GRCm39) |
|
probably benign |
Het |
| Sec14l3 |
T |
C |
11: 4,025,481 (GRCm39) |
V335A |
probably benign |
Het |
| Setbp1 |
C |
T |
18: 78,899,935 (GRCm39) |
S1244N |
probably benign |
Het |
| Sgcg |
A |
T |
14: 61,483,213 (GRCm39) |
F63I |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc2a13 |
T |
A |
15: 91,400,695 (GRCm39) |
I176F |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,339,987 (GRCm39) |
T432A |
probably benign |
Het |
| Snx25 |
G |
A |
8: 46,509,150 (GRCm39) |
P478L |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,879,882 (GRCm39) |
H1151Q |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,673 (GRCm39) |
K795R |
possibly damaging |
Het |
| Tmem108 |
G |
A |
9: 103,361,976 (GRCm39) |
L537F |
possibly damaging |
Het |
| Ubr3 |
T |
C |
2: 69,766,361 (GRCm39) |
Y410H |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,555,055 (GRCm39) |
|
probably null |
Het |
| Vmn1r224 |
T |
C |
17: 20,639,524 (GRCm39) |
Y34H |
probably benign |
Het |
| Zfp652 |
A |
G |
11: 95,644,834 (GRCm39) |
D240G |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,996 (GRCm39) |
C152* |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGCAAGAAACGGTTTTCCC -3'
(R):5'- TGGGAGATACCAAACCAACTGTTG -3'
Sequencing Primer
(F):5'- CAAGAAACGGTTTTCCCATTCTGG -3'
(R):5'- TTGGCAGAACAACGGCTTGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation