Incidental Mutation 'R1815:Zeb1'
ID |
202680 |
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 |
039843-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R1815 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 5767898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 803
(C803Y)
|
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: C803Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025081 Gene: ENSMUSG00000024238 AA Change: C803Y
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: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 90.5%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
A |
G |
1: 171,083,905 (GRCm39) |
T492A |
probably damaging |
Het |
Afg3l2 |
A |
T |
18: 67,548,643 (GRCm39) |
L529* |
probably null |
Het |
Ak9 |
A |
G |
10: 41,213,572 (GRCm39) |
E259G |
probably damaging |
Het |
Apol11b |
T |
A |
15: 77,519,772 (GRCm39) |
I103F |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,501,667 (GRCm39) |
M864V |
possibly damaging |
Het |
Atp8a2 |
A |
G |
14: 60,324,073 (GRCm39) |
L60P |
probably damaging |
Het |
Begain |
T |
C |
12: 109,000,033 (GRCm39) |
Y451C |
probably damaging |
Het |
Bmpr1b |
A |
T |
3: 141,586,124 (GRCm39) |
I46N |
probably benign |
Het |
Bms1 |
T |
A |
6: 118,360,742 (GRCm39) |
K1242M |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,622,358 (GRCm39) |
L254P |
probably damaging |
Het |
Ccdc112 |
A |
T |
18: 46,424,173 (GRCm39) |
N188K |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdkal1 |
A |
G |
13: 29,901,774 (GRCm39) |
V132A |
possibly damaging |
Het |
Cdo1 |
A |
G |
18: 46,853,369 (GRCm39) |
C130R |
probably damaging |
Het |
Cep295nl |
G |
T |
11: 118,223,474 (GRCm39) |
R457S |
probably damaging |
Het |
Cntn1 |
A |
T |
15: 92,148,829 (GRCm39) |
I359F |
probably benign |
Het |
Csnk1g1 |
T |
C |
9: 65,939,606 (GRCm39) |
V435A |
probably damaging |
Het |
Csnka2ip |
A |
G |
16: 64,298,855 (GRCm39) |
V59A |
probably benign |
Het |
Ddr2 |
A |
T |
1: 169,823,170 (GRCm39) |
Y371* |
probably null |
Het |
Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,366,400 (GRCm39) |
I1901V |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,088,056 (GRCm39) |
I903N |
probably damaging |
Het |
Fastk |
T |
C |
5: 24,646,529 (GRCm39) |
Q471R |
probably damaging |
Het |
Flvcr1 |
A |
T |
1: 190,757,577 (GRCm39) |
N238K |
probably damaging |
Het |
Gsdmc3 |
A |
T |
15: 63,740,965 (GRCm39) |
L61H |
probably damaging |
Het |
H2-M10.5 |
T |
A |
17: 37,084,836 (GRCm39) |
C187S |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,283,055 (GRCm39) |
I1977T |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,260,914 (GRCm39) |
I905F |
probably benign |
Het |
Jmy |
C |
T |
13: 93,590,585 (GRCm39) |
G506D |
probably damaging |
Het |
Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,271,800 (GRCm39) |
E894G |
probably damaging |
Het |
Klra7 |
T |
C |
6: 130,201,070 (GRCm39) |
I229V |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,986,565 (GRCm39) |
T150A |
probably benign |
Het |
Krtap20-1 |
T |
C |
16: 88,812,337 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,227,896 (GRCm39) |
Y1199C |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,724,642 (GRCm39) |
N75K |
possibly damaging |
Het |
Lss |
T |
C |
10: 76,388,798 (GRCm39) |
S700P |
probably damaging |
Het |
Ltbp1 |
A |
T |
17: 75,559,375 (GRCm39) |
Q288L |
probably benign |
Het |
Mical2 |
A |
G |
7: 112,012,109 (GRCm39) |
E653G |
probably damaging |
Het |
Mphosph10 |
G |
T |
7: 64,041,918 (GRCm39) |
Q9K |
probably benign |
Het |
Muc15 |
T |
A |
2: 110,561,603 (GRCm39) |
L13Q |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,134,602 (GRCm39) |
D18G |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,839,101 (GRCm39) |
Y127C |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
Or8g18 |
T |
C |
9: 39,149,286 (GRCm39) |
I145V |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,366,618 (GRCm39) |
Y28* |
probably null |
Het |
Pdcd2l |
G |
A |
7: 33,885,826 (GRCm39) |
T286I |
probably benign |
Het |
Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
Phlpp2 |
C |
A |
8: 110,666,855 (GRCm39) |
T1128K |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,975,148 (GRCm39) |
V244A |
possibly damaging |
Het |
Pld1 |
A |
G |
3: 28,163,917 (GRCm39) |
I783M |
probably benign |
Het |
Plk5 |
T |
C |
10: 80,199,855 (GRCm39) |
V454A |
probably benign |
Het |
Prkci |
T |
C |
3: 31,092,644 (GRCm39) |
S309P |
probably damaging |
Het |
Prx |
A |
T |
7: 27,216,090 (GRCm39) |
D197V |
probably damaging |
Het |
Ptpn5 |
A |
G |
7: 46,728,589 (GRCm39) |
L537P |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,698,867 (GRCm39) |
N1121K |
probably benign |
Het |
Rock2 |
T |
A |
12: 17,022,727 (GRCm39) |
D1055E |
probably benign |
Het |
Rrp1b |
T |
C |
17: 32,275,785 (GRCm39) |
V444A |
probably benign |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGACGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
S1pr2 |
G |
A |
9: 20,879,388 (GRCm39) |
R147* |
probably null |
Het |
Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
Smc6 |
T |
C |
12: 11,344,602 (GRCm39) |
|
probably null |
Het |
Srsf11 |
C |
T |
3: 157,722,064 (GRCm39) |
|
probably benign |
Het |
Sstr1 |
T |
C |
12: 58,260,264 (GRCm39) |
F296L |
possibly damaging |
Het |
Tecrl |
T |
A |
5: 83,427,081 (GRCm39) |
I356L |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,136,705 (GRCm39) |
I2348T |
probably damaging |
Het |
Tmed11 |
T |
A |
5: 108,925,291 (GRCm39) |
I174L |
probably benign |
Het |
Tmem132a |
G |
A |
19: 10,838,931 (GRCm39) |
Q504* |
probably null |
Het |
Unc5c |
A |
T |
3: 141,463,518 (GRCm39) |
D213V |
probably damaging |
Het |
Utp25 |
A |
C |
1: 192,800,591 (GRCm39) |
S410A |
probably benign |
Het |
Vgll4 |
T |
C |
6: 114,841,020 (GRCm39) |
D92G |
probably benign |
Het |
Vps37a |
T |
C |
8: 40,965,162 (GRCm39) |
F5L |
probably benign |
Het |
Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
Zmym1 |
T |
C |
4: 126,942,814 (GRCm39) |
T427A |
possibly 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 |
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 |
|
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'- TCTGTCCAGGAAGAACCCTTG -3'
(R):5'- ACATGGCAGCTGTAACAATCTGG -3'
Sequencing Primer
(F):5'- TGTCCAGGAAGAACCCTTGAACTTG -3'
(R):5'- TCTGGTTGATTCTACAGAGACAGAG -3'
|
Posted On |
2014-06-23 |