Incidental Mutation 'R1547:Zeb1'
ID |
172295 |
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 |
039586-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R1547 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5767450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 654
(R654C)
|
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: R654C
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025081 Gene: ENSMUSG00000024238 AA Change: R654C
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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.3%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
C |
12: 21,403,958 (GRCm39) |
V96G |
probably damaging |
Het |
Adam5 |
G |
T |
8: 25,300,729 (GRCm39) |
Q267K |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,581,383 (GRCm39) |
T833A |
probably benign |
Het |
Ago4 |
C |
T |
4: 126,405,206 (GRCm39) |
E456K |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,459,476 (GRCm39) |
Q1861R |
probably benign |
Het |
Apob |
A |
T |
12: 8,053,368 (GRCm39) |
D1270V |
probably benign |
Het |
Arb2a |
T |
C |
13: 77,973,509 (GRCm39) |
|
probably null |
Het |
Arhgef11 |
T |
A |
3: 87,602,709 (GRCm39) |
I196N |
possibly damaging |
Het |
Armh4 |
A |
T |
14: 50,010,953 (GRCm39) |
D251E |
probably benign |
Het |
Capzb |
G |
A |
4: 138,989,409 (GRCm39) |
|
probably null |
Het |
Ccdc183 |
T |
A |
2: 25,499,362 (GRCm39) |
T466S |
probably benign |
Het |
Cd101 |
T |
C |
3: 100,926,267 (GRCm39) |
T151A |
possibly damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,902,209 (GRCm39) |
I489F |
probably damaging |
Het |
Cetn4 |
T |
C |
3: 37,363,600 (GRCm39) |
K52R |
possibly damaging |
Het |
Dock6 |
C |
T |
9: 21,725,884 (GRCm39) |
E1440K |
probably damaging |
Het |
Edem2 |
A |
G |
2: 155,564,436 (GRCm39) |
F94L |
probably damaging |
Het |
Elp1 |
C |
A |
4: 56,792,090 (GRCm39) |
R226L |
probably damaging |
Het |
Elp1 |
C |
T |
4: 56,798,810 (GRCm39) |
V51M |
probably damaging |
Het |
Entrep1 |
T |
C |
19: 23,957,065 (GRCm39) |
D315G |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,143,081 (GRCm39) |
P4256L |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Kif19a |
A |
G |
11: 114,677,398 (GRCm39) |
E594G |
probably benign |
Het |
Kifap3 |
A |
G |
1: 163,621,655 (GRCm39) |
D101G |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,784,832 (GRCm39) |
D102G |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,359,824 (GRCm39) |
H388R |
probably benign |
Het |
Lmna |
T |
C |
3: 88,389,658 (GRCm39) |
S656G |
probably benign |
Het |
Map3k12 |
T |
A |
15: 102,412,287 (GRCm39) |
I285F |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 31,991,796 (GRCm39) |
I345V |
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,672,702 (GRCm39) |
R111G |
possibly damaging |
Het |
Mfsd6l |
T |
A |
11: 68,447,434 (GRCm39) |
V95D |
probably damaging |
Het |
Mogs |
T |
A |
6: 83,093,006 (GRCm39) |
M118K |
possibly damaging |
Het |
Npy5r |
T |
C |
8: 67,133,686 (GRCm39) |
E369G |
possibly damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,889 (GRCm39) |
F52L |
probably damaging |
Het |
Or10j3 |
T |
A |
1: 173,031,239 (GRCm39) |
Y105* |
probably null |
Het |
Or2t49 |
A |
G |
11: 58,392,651 (GRCm39) |
S244P |
probably damaging |
Het |
Or8b12b |
A |
C |
9: 37,683,960 (GRCm39) |
T2P |
probably benign |
Het |
Pde7b |
C |
A |
10: 20,310,340 (GRCm39) |
L207F |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,020,689 (GRCm39) |
V751A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,381 (GRCm39) |
Y1923C |
probably benign |
Het |
Prokr2 |
T |
C |
2: 132,215,522 (GRCm39) |
Y152C |
probably damaging |
Het |
Rab40c |
A |
G |
17: 26,102,724 (GRCm39) |
S223P |
probably damaging |
Het |
Recql4 |
A |
C |
15: 76,590,511 (GRCm39) |
C658G |
probably damaging |
Het |
Sgca |
T |
C |
11: 94,860,259 (GRCm39) |
T46A |
probably damaging |
Het |
Slc39a4 |
G |
T |
15: 76,498,347 (GRCm39) |
C363* |
probably null |
Het |
Snap25 |
A |
T |
2: 136,619,389 (GRCm39) |
I181F |
possibly damaging |
Het |
Snx32 |
T |
A |
19: 5,547,339 (GRCm39) |
Q256L |
possibly damaging |
Het |
Soat1 |
A |
G |
1: 156,267,331 (GRCm39) |
V284A |
probably damaging |
Het |
Sox6 |
G |
A |
7: 115,300,957 (GRCm39) |
T170M |
possibly damaging |
Het |
Spag16 |
G |
T |
1: 69,912,402 (GRCm39) |
V246F |
possibly damaging |
Het |
St6galnac6 |
T |
C |
2: 32,504,977 (GRCm39) |
V141A |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,211,047 (GRCm39) |
|
probably null |
Het |
Syngr3 |
A |
T |
17: 24,906,698 (GRCm39) |
V39E |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,508,418 (GRCm39) |
T917A |
probably damaging |
Het |
Tas1r1 |
A |
G |
4: 152,112,876 (GRCm39) |
S726P |
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 |
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 |
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'- TCAAAGATCGCCGATTCTGTGAACC -3'
(R):5'- ACTGGGCAGTGACTGTAGGAATAGC -3'
Sequencing Primer
(F):5'- TGTGAACCTACCGCTGGATG -3'
(R):5'- GTTCTGGTAAACGCTACTGAC -3'
|
Posted On |
2014-04-13 |