Incidental Mutation 'R6429:Zeb1'
| ID |
518456 |
| 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 |
044567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5770498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 884
(C884S)
|
| 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: C884S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: C884S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
A |
5: 114,366,652 (GRCm39) |
E1565K |
probably damaging |
Het |
| Amy1 |
T |
C |
3: 113,363,158 (GRCm39) |
N63S |
probably damaging |
Het |
| Arhgef15 |
G |
T |
11: 68,838,622 (GRCm39) |
N591K |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,511,910 (GRCm39) |
S34P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,081,298 (GRCm39) |
D127G |
probably damaging |
Het |
| Ccdc87 |
T |
A |
19: 4,891,263 (GRCm39) |
V585E |
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,779,272 (GRCm39) |
C361R |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,421,345 (GRCm39) |
I223T |
probably damaging |
Het |
| Dgkq |
C |
T |
5: 108,801,574 (GRCm39) |
V495M |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,295,330 (GRCm39) |
I570T |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,377,542 (GRCm39) |
Q383* |
probably null |
Het |
| Emilin2 |
C |
A |
17: 71,617,951 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,406,393 (GRCm39) |
I1163M |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,248,094 (GRCm39) |
E1008K |
possibly damaging |
Het |
| Gm35315 |
A |
T |
5: 110,226,525 (GRCm39) |
Y305N |
possibly damaging |
Het |
| Grhl3 |
T |
A |
4: 135,284,507 (GRCm39) |
D195V |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,375,248 (GRCm39) |
S250T |
possibly damaging |
Het |
| Il33 |
T |
C |
19: 29,929,400 (GRCm39) |
F41S |
probably benign |
Het |
| Il4 |
A |
G |
11: 53,504,736 (GRCm39) |
S15P |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,570,690 (GRCm39) |
P410S |
probably benign |
Het |
| Kalrn |
T |
A |
16: 34,152,534 (GRCm39) |
D349V |
possibly damaging |
Het |
| Krt4 |
A |
G |
15: 101,831,229 (GRCm39) |
M224T |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,291,631 (GRCm39) |
S3516N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,295,387 (GRCm39) |
|
probably null |
Het |
| Msr1 |
G |
A |
8: 40,068,858 (GRCm39) |
P213S |
probably damaging |
Het |
| Nptx1 |
G |
T |
11: 119,435,547 (GRCm39) |
C256* |
probably null |
Het |
| Nr1d1 |
T |
C |
11: 98,662,840 (GRCm39) |
Y51C |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,869 (GRCm39) |
R136Q |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,572,461 (GRCm39) |
D363G |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,825,345 (GRCm39) |
H432Q |
possibly damaging |
Het |
| Prkag1 |
A |
G |
15: 98,712,404 (GRCm39) |
F143L |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,272,478 (GRCm39) |
K72R |
possibly damaging |
Het |
| Pvrig-ps |
A |
G |
5: 138,340,312 (GRCm39) |
T28A |
probably benign |
Het |
| Rhod |
C |
T |
19: 4,476,133 (GRCm39) |
C206Y |
probably benign |
Het |
| Rngtt |
C |
A |
4: 33,320,606 (GRCm39) |
S51* |
probably null |
Het |
| Rreb1 |
T |
G |
13: 38,116,105 (GRCm39) |
S1155A |
probably benign |
Het |
| Scn9a |
A |
C |
2: 66,357,307 (GRCm39) |
I998S |
possibly damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,495,868 (GRCm39) |
F50L |
probably damaging |
Het |
| Six4 |
A |
T |
12: 73,150,247 (GRCm39) |
V766D |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,206,135 (GRCm39) |
I421T |
probably damaging |
Het |
| Son |
T |
A |
16: 91,455,054 (GRCm39) |
M1267K |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,287,027 (GRCm39) |
D156V |
possibly damaging |
Het |
| Supt3 |
A |
G |
17: 45,430,030 (GRCm39) |
E361G |
probably benign |
Het |
| Tbx3 |
T |
A |
5: 119,812,256 (GRCm39) |
Y185* |
probably null |
Het |
| Trpm1 |
A |
T |
7: 63,918,252 (GRCm39) |
T531S |
probably benign |
Het |
| Tspan32 |
T |
A |
7: 142,572,479 (GRCm39) |
W172R |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,559,318 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,208,276 (GRCm39) |
I734F |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,243,175 (GRCm39) |
T618A |
probably benign |
Het |
| Wac |
T |
A |
18: 7,920,163 (GRCm39) |
V339E |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,833,024 (GRCm39) |
T156M |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,214 (GRCm39) |
|
probably benign |
Het |
| Zmpste24 |
A |
G |
4: 120,952,867 (GRCm39) |
V10A |
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 |
|
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 |
|
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'- GGAGGGCTTCACATCTAACATG -3'
(R):5'- GCTCCGCAGTAGGAATATGTG -3'
Sequencing Primer
(F):5'- GTAGATCCCAGGGATTCAACTCTG -3'
(R):5'- CTCCGCAGTAGGAATATGTGAAAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation