Incidental Mutation 'R1501:Zeb1'
ID |
169312 |
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 |
040867-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R1501 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5761399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 232
(K232N)
|
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: K232N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000025081 Gene: ENSMUSG00000024238 AA Change: K232N
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 |
possibly damaging
Transcript: ENSMUST00000159390
AA Change: K178N
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124395 Gene: ENSMUSG00000024238 AA Change: K178N
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: ENSMUST00000160910
|
SMART Domains |
Protein: ENSMUSP00000124815 Gene: ENSMUSG00000024238
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 |
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 |
|
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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
A |
T |
14: 78,750,787 (GRCm39) |
S533R |
probably benign |
Het |
Amph |
C |
T |
13: 19,288,461 (GRCm39) |
Q317* |
probably null |
Het |
Bach2 |
A |
G |
4: 32,562,279 (GRCm39) |
T249A |
possibly damaging |
Het |
Cacna2d3 |
A |
G |
14: 28,703,137 (GRCm39) |
C845R |
probably damaging |
Het |
Calml4 |
A |
G |
9: 62,778,622 (GRCm39) |
K12E |
probably benign |
Het |
Chrd |
C |
T |
16: 20,556,283 (GRCm39) |
R615W |
probably damaging |
Het |
Chst15 |
T |
A |
7: 131,870,798 (GRCm39) |
K246* |
probably null |
Het |
Cmtr2 |
G |
A |
8: 110,948,235 (GRCm39) |
D182N |
probably benign |
Het |
Cyp2d9 |
C |
A |
15: 82,338,525 (GRCm39) |
C186* |
probably null |
Het |
Cyp3a13 |
G |
T |
5: 137,909,892 (GRCm39) |
|
probably null |
Het |
Dcaf17 |
A |
T |
2: 70,912,332 (GRCm39) |
I320F |
probably damaging |
Het |
Ddx10 |
T |
C |
9: 53,145,297 (GRCm39) |
I227V |
possibly damaging |
Het |
Dlc1 |
G |
T |
8: 37,405,302 (GRCm39) |
N162K |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,317,670 (GRCm39) |
R455H |
probably benign |
Het |
Drg2 |
G |
T |
11: 60,355,679 (GRCm39) |
A306S |
probably benign |
Het |
Dsg1a |
A |
T |
18: 20,465,076 (GRCm39) |
R422S |
probably damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,766,452 (GRCm39) |
V353A |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,617,756 (GRCm39) |
S34G |
probably benign |
Het |
Enpp2 |
C |
A |
15: 54,702,910 (GRCm39) |
W862L |
probably damaging |
Het |
Exoc2 |
T |
C |
13: 31,119,485 (GRCm39) |
I139V |
probably benign |
Het |
Fhad1 |
C |
T |
4: 141,691,936 (GRCm39) |
R400H |
probably benign |
Het |
Fv1 |
C |
T |
4: 147,954,595 (GRCm39) |
T387M |
probably damaging |
Het |
Gatad1 |
T |
A |
5: 3,693,701 (GRCm39) |
D156V |
probably damaging |
Het |
Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
Gm4799 |
G |
A |
10: 82,790,469 (GRCm39) |
|
noncoding transcript |
Het |
Hadha |
A |
G |
5: 30,333,804 (GRCm39) |
F405S |
probably benign |
Het |
Ifit3 |
T |
C |
19: 34,565,651 (GRCm39) |
V399A |
probably benign |
Het |
Il1rapl1 |
G |
T |
X: 86,348,469 (GRCm39) |
Y150* |
probably null |
Het |
Kirrel1 |
T |
C |
3: 86,997,779 (GRCm39) |
E248G |
probably benign |
Het |
Krt72 |
C |
A |
15: 101,686,769 (GRCm39) |
K392N |
probably damaging |
Het |
Loxhd1 |
G |
A |
18: 77,444,528 (GRCm39) |
G309D |
probably damaging |
Het |
Mc3r |
T |
G |
2: 172,091,300 (GRCm39) |
I174S |
probably benign |
Het |
Me3 |
A |
G |
7: 89,282,273 (GRCm39) |
D52G |
probably benign |
Het |
Med12l |
T |
C |
3: 59,168,256 (GRCm39) |
|
probably null |
Het |
Mgat5 |
G |
A |
1: 127,325,378 (GRCm39) |
|
probably null |
Het |
Mphosph10 |
A |
T |
7: 64,039,252 (GRCm39) |
F239L |
probably damaging |
Het |
Mrps7 |
T |
C |
11: 115,495,023 (GRCm39) |
S13P |
probably benign |
Het |
Nexn |
T |
C |
3: 151,943,323 (GRCm39) |
T527A |
possibly damaging |
Het |
Nlrp1b |
G |
A |
11: 71,046,885 (GRCm39) |
H1156Y |
probably damaging |
Het |
Nostrin |
A |
G |
2: 68,989,129 (GRCm39) |
E120G |
probably damaging |
Het |
Nsun2 |
A |
G |
13: 69,779,706 (GRCm39) |
E624G |
probably damaging |
Het |
Oga |
T |
C |
19: 45,767,079 (GRCm39) |
D99G |
probably null |
Het |
Or4c102 |
G |
A |
2: 88,422,492 (GRCm39) |
V115I |
possibly damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,539 (GRCm39) |
I45T |
probably damaging |
Het |
Or52n4b |
G |
A |
7: 108,143,782 (GRCm39) |
V15I |
probably benign |
Het |
Or5p70 |
A |
C |
7: 107,995,289 (GRCm39) |
K321Q |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,598,146 (GRCm39) |
N802S |
probably damaging |
Het |
Pik3c2g |
T |
C |
6: 139,789,796 (GRCm39) |
|
probably null |
Het |
Pikfyve |
T |
A |
1: 65,304,443 (GRCm39) |
I1670N |
possibly damaging |
Het |
Pld5 |
A |
G |
1: 175,803,087 (GRCm39) |
F393L |
probably benign |
Het |
Plekhg1 |
C |
A |
10: 3,907,361 (GRCm39) |
D759E |
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,277,888 (GRCm39) |
S403P |
probably benign |
Het |
Pop1 |
T |
C |
15: 34,510,503 (GRCm39) |
F432L |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,664,230 (GRCm39) |
I406T |
probably benign |
Het |
Ptpn5 |
G |
T |
7: 46,739,623 (GRCm39) |
D185E |
probably benign |
Het |
Rad50 |
G |
T |
11: 53,578,978 (GRCm39) |
Q527K |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,530,507 (GRCm39) |
F613L |
probably benign |
Het |
Sec16a |
T |
A |
2: 26,330,057 (GRCm39) |
M653L |
probably benign |
Het |
Sh3bp2 |
T |
C |
5: 34,712,920 (GRCm39) |
|
probably null |
Het |
Slc22a3 |
G |
A |
17: 12,725,991 (GRCm39) |
T74I |
probably benign |
Het |
Slc23a4 |
A |
G |
6: 34,932,057 (GRCm39) |
L272P |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,857,536 (GRCm39) |
D869G |
possibly damaging |
Het |
Slc5a11 |
T |
A |
7: 122,859,731 (GRCm39) |
V291E |
probably damaging |
Het |
Slc6a19 |
C |
A |
13: 73,832,167 (GRCm39) |
A470S |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,894,006 (GRCm39) |
S878P |
probably damaging |
Het |
Smchd1 |
A |
G |
17: 71,672,089 (GRCm39) |
M1655T |
possibly damaging |
Het |
Srgap2 |
A |
G |
1: 131,220,437 (GRCm39) |
L179P |
probably damaging |
Het |
Tbx2 |
A |
G |
11: 85,725,622 (GRCm39) |
D191G |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,796,351 (GRCm39) |
Y485H |
probably damaging |
Het |
Trim12c |
T |
A |
7: 103,990,095 (GRCm39) |
|
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,610,170 (GRCm39) |
T213A |
probably damaging |
Het |
Upp1 |
T |
A |
11: 9,084,708 (GRCm39) |
|
probably null |
Het |
Vmn1r46 |
A |
T |
6: 89,953,198 (GRCm39) |
I16L |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,814,850 (GRCm39) |
D214E |
possibly damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,660,118 (GRCm39) |
Y177N |
probably damaging |
Het |
Vmn2r99 |
T |
G |
17: 19,582,521 (GRCm39) |
I42S |
possibly damaging |
Het |
Zfp280b |
T |
C |
10: 75,875,603 (GRCm39) |
I494T |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,066,143 (GRCm39) |
D38G |
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 |
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'- CCTGTGCCAAGGGATGAGCATTTG -3'
(R):5'- TTGTGCTGCCTTAGCTCACTGG -3'
Sequencing Primer
(F):5'- CCACTGCTGGTCTATGTCAGAAG -3'
(R):5'- GGGTCCACACCATGAGTTTA -3'
|
Posted On |
2014-04-13 |