Incidental Mutation 'R0184:Zeb1'
| ID |
24004 |
| 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 |
038449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5766808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 440
(I440F)
|
| 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: I440F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: I440F
| 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 |
0.1059 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.9%
|
| Validation Efficiency |
66% (50/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
A |
3: 124,212,899 (GRCm39) |
V131F |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,874,822 (GRCm39) |
D285G |
probably benign |
Het |
| Akr1c13 |
A |
G |
13: 4,244,055 (GRCm39) |
E36G |
probably damaging |
Het |
| Antxr2 |
A |
G |
5: 98,127,889 (GRCm39) |
L214S |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 38,750,726 (GRCm39) |
D46E |
unknown |
Het |
| Armc9 |
T |
C |
1: 86,126,092 (GRCm39) |
L61P |
probably damaging |
Het |
| Bicc1 |
C |
A |
10: 70,915,045 (GRCm39) |
R73L |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,743,269 (GRCm39) |
N43S |
probably benign |
Het |
| Cct7 |
A |
G |
6: 85,438,536 (GRCm39) |
D105G |
probably null |
Het |
| Cdk18 |
T |
C |
1: 132,046,276 (GRCm39) |
N215D |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,103,396 (GRCm39) |
T205A |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,456,209 (GRCm39) |
I495N |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,886,432 (GRCm39) |
C152* |
probably null |
Het |
| Dab2ip |
G |
A |
2: 35,608,803 (GRCm39) |
R579H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,902,657 (GRCm39) |
V905A |
probably benign |
Het |
| Eif4h |
C |
A |
5: 134,654,229 (GRCm39) |
D134Y |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,207,651 (GRCm39) |
S372T |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,187,114 (GRCm39) |
H1244L |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,316,101 (GRCm39) |
N443I |
probably benign |
Het |
| Git2 |
G |
A |
5: 114,877,098 (GRCm39) |
T128M |
possibly damaging |
Het |
| Gm10985 |
T |
A |
3: 53,752,679 (GRCm39) |
Y21N |
probably damaging |
Het |
| Gm12790 |
A |
T |
4: 101,824,811 (GRCm39) |
Y152* |
probably null |
Het |
| Heatr5a |
T |
C |
12: 51,956,752 (GRCm39) |
D1115G |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,695,866 (GRCm39) |
N726S |
possibly damaging |
Het |
| Hrg |
T |
C |
16: 22,772,521 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
G |
13: 49,875,688 (GRCm39) |
S792A |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,875,941 (GRCm39) |
N1301S |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,041,511 (GRCm39) |
I75F |
probably damaging |
Het |
| Ilkap |
T |
C |
1: 91,304,027 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,456,542 (GRCm39) |
Y435N |
probably benign |
Het |
| Ints8 |
A |
C |
4: 11,218,637 (GRCm39) |
S797A |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,788,403 (GRCm39) |
D405E |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,685,230 (GRCm39) |
I448F |
probably damaging |
Het |
| Klk1 |
C |
T |
7: 43,878,173 (GRCm39) |
T41I |
possibly damaging |
Het |
| Mcrip1 |
T |
C |
11: 120,435,710 (GRCm39) |
M1V |
probably null |
Het |
| Mdga1 |
A |
G |
17: 30,071,416 (GRCm39) |
Y128H |
probably damaging |
Het |
| Mtor |
G |
T |
4: 148,549,428 (GRCm39) |
R604L |
probably benign |
Het |
| Or52p1 |
T |
C |
7: 104,267,447 (GRCm39) |
V187A |
probably damaging |
Het |
| Or5d41 |
A |
T |
2: 88,055,124 (GRCm39) |
L84* |
probably null |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,443 (GRCm39) |
D526E |
probably benign |
Het |
| Pip4k2a |
T |
C |
2: 18,893,939 (GRCm39) |
D139G |
probably damaging |
Het |
| Pkp3 |
A |
C |
7: 140,668,280 (GRCm39) |
N536T |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,090,145 (GRCm39) |
S524T |
probably benign |
Het |
| Pno1 |
T |
C |
11: 17,161,127 (GRCm39) |
E69G |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,191,139 (GRCm39) |
V231M |
probably benign |
Het |
| Poli |
A |
G |
18: 70,655,802 (GRCm39) |
S248P |
probably damaging |
Het |
| Ppox |
C |
T |
1: 171,107,126 (GRCm39) |
S138N |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,419,901 (GRCm39) |
E6G |
probably null |
Het |
| Rbmx |
C |
T |
X: 56,436,926 (GRCm39) |
|
probably null |
Het |
| Rln1 |
T |
A |
19: 29,309,336 (GRCm39) |
K148* |
probably null |
Het |
| Rnf213 |
C |
T |
11: 119,305,347 (GRCm39) |
T526I |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,531,290 (GRCm39) |
V904E |
probably null |
Het |
| Sf3b2 |
T |
A |
19: 5,333,700 (GRCm39) |
I633F |
probably damaging |
Het |
| Sfswap |
T |
A |
5: 129,584,253 (GRCm39) |
I189N |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,669,649 (GRCm39) |
Y973* |
probably null |
Het |
| Spink5 |
G |
A |
18: 44,136,265 (GRCm39) |
D559N |
probably benign |
Het |
| Spty2d1 |
C |
T |
7: 46,647,322 (GRCm39) |
V536I |
possibly damaging |
Het |
| Tbx3 |
T |
C |
5: 119,813,627 (GRCm39) |
I221T |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,736,501 (GRCm39) |
D1650V |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,358,701 (GRCm39) |
K45R |
probably benign |
Het |
| Tirap |
A |
G |
9: 35,100,490 (GRCm39) |
S65P |
probably benign |
Het |
| Trim25 |
C |
T |
11: 88,890,466 (GRCm39) |
P51L |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,467,069 (GRCm39) |
N64S |
probably benign |
Het |
| Twf1 |
T |
A |
15: 94,478,948 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
C |
4: 139,172,573 (GRCm39) |
T1692P |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,469,863 (GRCm39) |
M86T |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,543,362 (GRCm39) |
D1762G |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,265 (GRCm39) |
S625G |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,947,139 (GRCm39) |
W472* |
probably null |
Het |
| Vrk2 |
C |
A |
11: 26,500,046 (GRCm39) |
A56S |
probably damaging |
Het |
| Yeats2 |
C |
T |
16: 20,022,435 (GRCm39) |
P620S |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,751,713 (GRCm39) |
D171N |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGGCAACCAGTTCTCCTC -3'
(R):5'- CCTCACACAGAAGGCAAGTGCTATC -3'
Sequencing Primer
(F):5'- AACCAGTTCTCCTCAGGGTG -3'
(R):5'- AGGCAAGTGCTATCATCCCTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation