Incidental Mutation 'R4729:Zeb1'
| ID |
358723 |
| 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 |
041603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R4729 (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 5767286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 599
(P599L)
|
| 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: P599L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: P599L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,667,187 (GRCm39) |
L220H |
unknown |
Het |
| Amt |
T |
A |
9: 108,177,851 (GRCm39) |
L272Q |
probably damaging |
Het |
| Ank2 |
G |
C |
3: 126,770,545 (GRCm39) |
Y894* |
probably null |
Het |
| Ankzf1 |
T |
A |
1: 75,170,908 (GRCm39) |
F105I |
probably damaging |
Het |
| Aox4 |
C |
A |
1: 58,298,236 (GRCm39) |
Y1067* |
probably null |
Het |
| BC034090 |
T |
A |
1: 155,100,836 (GRCm39) |
Q476L |
probably damaging |
Het |
| Bhmt |
G |
T |
13: 93,763,871 (GRCm39) |
R57S |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,633,136 (GRCm39) |
F964L |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,724,851 (GRCm39) |
S396R |
probably benign |
Het |
| Cpne4 |
C |
A |
9: 104,799,755 (GRCm39) |
Q191K |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,475,038 (GRCm39) |
Y352H |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,058,623 (GRCm39) |
S426P |
probably damaging |
Het |
| Dennd10 |
T |
A |
19: 60,823,309 (GRCm39) |
F315I |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,329,443 (GRCm39) |
N326K |
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,911,760 (GRCm39) |
I257N |
probably damaging |
Het |
| Elfn1 |
T |
G |
5: 139,959,413 (GRCm39) |
F806V |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,783,204 (GRCm39) |
Y559F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,543,480 (GRCm39) |
|
probably null |
Het |
| Fam78a |
T |
C |
2: 31,972,617 (GRCm39) |
N101S |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,874,185 (GRCm39) |
S1051P |
probably benign |
Het |
| Galns |
C |
T |
8: 123,330,195 (GRCm39) |
G112D |
probably damaging |
Het |
| Gm9923 |
A |
G |
10: 72,145,524 (GRCm39) |
K125R |
probably damaging |
Het |
| Hectd3 |
G |
A |
4: 116,854,415 (GRCm39) |
V326M |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,048,248 (GRCm39) |
S495P |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,754,503 (GRCm39) |
R528G |
probably damaging |
Het |
| Igkv12-38 |
T |
A |
6: 69,920,368 (GRCm39) |
Y50F |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,445,025 (GRCm39) |
S883G |
probably damaging |
Het |
| Irf8 |
T |
C |
8: 121,480,178 (GRCm39) |
S139P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Kcnq4 |
G |
T |
4: 120,570,271 (GRCm39) |
D357E |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,584 (GRCm39) |
L364P |
probably damaging |
Het |
| Krt7 |
A |
G |
15: 101,318,439 (GRCm39) |
I309V |
probably benign |
Het |
| Krt76 |
G |
T |
15: 101,797,516 (GRCm39) |
A281D |
probably damaging |
Het |
| Lancl2 |
T |
C |
6: 57,714,697 (GRCm39) |
F430L |
probably damaging |
Het |
| Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
| Lrrc26 |
A |
T |
2: 25,180,076 (GRCm39) |
T26S |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,912,041 (GRCm39) |
M1840L |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,812,486 (GRCm39) |
C966Y |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,247,266 (GRCm39) |
S354C |
possibly damaging |
Het |
| Mbtps1 |
C |
T |
8: 120,252,159 (GRCm39) |
G577D |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,426,027 (GRCm39) |
R2366H |
probably damaging |
Het |
| Myo18a |
T |
G |
11: 77,668,511 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
A |
13: 100,358,639 (GRCm39) |
R866C |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,102,567 (GRCm39) |
V455E |
probably benign |
Het |
| Neb |
A |
G |
2: 52,153,674 (GRCm39) |
I2417T |
possibly damaging |
Het |
| Nme5 |
C |
T |
18: 34,702,890 (GRCm39) |
A133T |
probably benign |
Het |
| Nradd |
T |
C |
9: 110,450,979 (GRCm39) |
D51G |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,250,843 (GRCm39) |
R591G |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,337,929 (GRCm39) |
F73S |
probably damaging |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,419 (GRCm39) |
Q250* |
probably null |
Het |
| Pde1c |
T |
A |
6: 56,049,194 (GRCm39) |
K766N |
probably damaging |
Het |
| Phf21b |
G |
A |
15: 84,738,942 (GRCm39) |
Q40* |
probably null |
Het |
| Prr14 |
A |
G |
7: 127,073,868 (GRCm39) |
D244G |
probably benign |
Het |
| Rab11fip5 |
C |
T |
6: 85,351,249 (GRCm39) |
A88T |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,593,317 (GRCm39) |
S428T |
probably benign |
Het |
| Rdh9 |
A |
G |
10: 127,612,621 (GRCm39) |
I90V |
probably benign |
Het |
| Rhag |
G |
T |
17: 41,139,292 (GRCm39) |
G76C |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,261,984 (GRCm39) |
V6E |
possibly damaging |
Het |
| Rnf7l |
A |
T |
10: 63,257,244 (GRCm39) |
V92E |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,500,592 (GRCm39) |
I229T |
probably damaging |
Het |
| Slco1a1 |
G |
T |
6: 141,854,695 (GRCm39) |
T652K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,635,459 (GRCm39) |
I345F |
probably damaging |
Het |
| Snrnp200 |
A |
T |
2: 127,074,857 (GRCm39) |
I1477F |
probably damaging |
Het |
| Snx31 |
G |
A |
15: 36,523,698 (GRCm39) |
T328I |
possibly damaging |
Het |
| Strn |
A |
G |
17: 78,965,390 (GRCm39) |
F634S |
probably damaging |
Het |
| Tmem101 |
C |
T |
11: 102,047,155 (GRCm39) |
G6R |
probably benign |
Het |
| Tmem199 |
C |
G |
11: 78,399,506 (GRCm39) |
G131R |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,055,267 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,681,929 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
C |
5: 136,086,247 (GRCm39) |
L61P |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,632 (GRCm39) |
Y75H |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,906 (GRCm39) |
I500K |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,124,272 (GRCm39) |
R400C |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,464,557 (GRCm39) |
A1572S |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,617,680 (GRCm39) |
C246S |
possibly damaging |
Het |
| Zfp719 |
T |
A |
7: 43,239,834 (GRCm39) |
I474N |
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 |
|
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 |
|
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'- GGACCTCAATGCACTTCCAG -3'
(R):5'- AGAGCTCCTTATCTTGACAGGAC -3'
Sequencing Primer
(F):5'- ACTATGACCCAGAGTGCCCTG -3'
(R):5'- ACTCTGTCCGCGTGTGCTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation