Incidental Mutation 'R5839:Zeb1'
ID |
449830 |
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 |
044059-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5839 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5767507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 673
(M673V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
[ENSMUST00000159390]
[ENSMUST00000175925]
|
AlphaFold |
Q64318 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025081
AA Change: M673V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025081 Gene: ENSMUSG00000024238 AA Change: M673V
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
94% (62/66) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
A |
5: 8,186,861 (GRCm39) |
Y420F |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,588,031 (GRCm39) |
Y919H |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,518,803 (GRCm39) |
D779G |
probably damaging |
Het |
Ampd1 |
A |
T |
3: 102,992,744 (GRCm39) |
N162I |
possibly damaging |
Het |
Arhgef15 |
G |
A |
11: 68,844,982 (GRCm39) |
A205V |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,890,658 (GRCm39) |
K846E |
probably damaging |
Het |
Azi2 |
C |
T |
9: 117,888,187 (GRCm39) |
T250I |
probably damaging |
Het |
Btbd16 |
G |
A |
7: 130,417,538 (GRCm39) |
|
probably null |
Het |
Ceacam16 |
T |
A |
7: 19,590,008 (GRCm39) |
K52* |
probably null |
Het |
Cfap74 |
T |
C |
4: 155,507,207 (GRCm39) |
|
probably null |
Het |
Cgn |
A |
C |
3: 94,681,703 (GRCm39) |
L464R |
probably damaging |
Het |
Chpt1 |
T |
A |
10: 88,339,625 (GRCm39) |
H32L |
probably damaging |
Het |
Clk1 |
G |
A |
1: 58,461,074 (GRCm39) |
T7I |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,822,592 (GRCm39) |
|
probably null |
Het |
Cpne4 |
C |
A |
9: 104,803,027 (GRCm39) |
R224S |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,623 (GRCm39) |
Y29C |
probably damaging |
Het |
Ddx5 |
A |
G |
11: 106,673,032 (GRCm39) |
S498P |
probably damaging |
Het |
Dgkg |
A |
G |
16: 22,385,244 (GRCm39) |
Y382H |
possibly damaging |
Het |
Efemp1 |
A |
G |
11: 28,871,418 (GRCm39) |
E339G |
possibly damaging |
Het |
Focad |
T |
A |
4: 88,115,083 (GRCm39) |
|
probably benign |
Het |
Gabbr1 |
G |
A |
17: 37,378,760 (GRCm39) |
G650D |
probably damaging |
Het |
Galnt9 |
A |
G |
5: 110,725,386 (GRCm39) |
S108G |
probably benign |
Het |
Igkv8-28 |
T |
A |
6: 70,121,145 (GRCm39) |
M1L |
probably benign |
Het |
Iqca1l |
T |
C |
5: 24,757,024 (GRCm39) |
K218E |
probably damaging |
Het |
Kcnq2 |
T |
C |
2: 180,751,544 (GRCm39) |
Y284C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,275,117 (GRCm39) |
F6299S |
probably damaging |
Het |
Magi3 |
G |
A |
3: 104,127,047 (GRCm39) |
T79M |
probably damaging |
Het |
Mdh2 |
T |
A |
5: 135,812,146 (GRCm39) |
|
probably null |
Het |
Mgam |
A |
C |
6: 40,716,998 (GRCm39) |
N108T |
possibly damaging |
Het |
N4bp3 |
A |
T |
11: 51,536,909 (GRCm39) |
F55I |
probably benign |
Het |
Nasp |
C |
T |
4: 116,459,288 (GRCm39) |
|
probably null |
Het |
Ncapg |
T |
A |
5: 45,829,620 (GRCm39) |
H107Q |
probably damaging |
Het |
Ofcc1 |
T |
C |
13: 40,434,021 (GRCm39) |
K28R |
probably damaging |
Het |
Opn1sw |
C |
T |
6: 29,379,829 (GRCm39) |
C135Y |
probably damaging |
Het |
Pigo |
T |
C |
4: 43,022,104 (GRCm39) |
M346V |
probably damaging |
Het |
Pkn2 |
A |
T |
3: 142,527,290 (GRCm39) |
D386E |
probably benign |
Het |
Psd2 |
G |
T |
18: 36,140,577 (GRCm39) |
V617L |
probably damaging |
Het |
Rab39 |
C |
T |
9: 53,617,387 (GRCm39) |
R10H |
probably damaging |
Het |
Slc6a6 |
T |
A |
6: 91,700,298 (GRCm39) |
C9S |
probably damaging |
Het |
Slc8a2 |
A |
T |
7: 15,868,412 (GRCm39) |
I215F |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,917,030 (GRCm39) |
V218A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,701,857 (GRCm39) |
V1045E |
probably damaging |
Het |
Smoc1 |
T |
C |
12: 81,214,359 (GRCm39) |
I247T |
probably damaging |
Het |
Snapc4 |
G |
C |
2: 26,255,546 (GRCm39) |
Q993E |
probably benign |
Het |
Spidr |
A |
T |
16: 15,855,366 (GRCm39) |
I383N |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,708,555 (GRCm39) |
V219A |
probably damaging |
Het |
Tas2r103 |
T |
C |
6: 133,013,779 (GRCm39) |
T96A |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,570,783 (GRCm39) |
E323G |
possibly damaging |
Het |
Tecta |
T |
C |
9: 42,284,272 (GRCm39) |
T938A |
possibly damaging |
Het |
Tecta |
C |
T |
9: 42,242,319 (GRCm39) |
D2085N |
probably benign |
Het |
Tekt2 |
T |
A |
4: 126,216,629 (GRCm39) |
E328V |
probably damaging |
Het |
Tgfb1i1 |
A |
G |
7: 127,852,537 (GRCm39) |
*462W |
probably null |
Het |
Tnip2 |
T |
C |
5: 34,653,976 (GRCm39) |
|
probably benign |
Het |
Tpd52l2 |
G |
A |
2: 181,141,691 (GRCm39) |
V25I |
probably benign |
Het |
Traj15 |
T |
A |
14: 54,441,926 (GRCm39) |
|
probably benign |
Het |
Trpm8 |
A |
T |
1: 88,253,228 (GRCm39) |
I106F |
possibly damaging |
Het |
Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,739,772 (GRCm39) |
H3589R |
probably benign |
Het |
Vmn1r28 |
T |
A |
6: 58,242,280 (GRCm39) |
I41N |
possibly damaging |
Het |
Wasf1 |
T |
A |
10: 40,812,315 (GRCm39) |
V368E |
unknown |
Het |
Zfp799 |
T |
C |
17: 33,041,086 (GRCm39) |
D31G |
probably null |
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 |
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'- GACAGATTCCAGGACAGTCTC -3'
(R):5'- TCAAGGGTTCTTCCTGGACAG -3'
Sequencing Primer
(F):5'- GACAGTCTCCTGACCCCC -3'
(R):5'- TGGTAAACGCTACTGACTGTCGAC -3'
|
Posted On |
2016-12-20 |