Incidental Mutation 'R7397:Zeb1'
| ID |
573933 |
| 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 |
045479-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R7397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5761394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 231
(Y231N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
[ENSMUST00000159390]
[ENSMUST00000160910]
[ENSMUST00000175925]
|
| AlphaFold |
Q64318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025081
AA Change: Y231N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: Y231N
| 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 damaging
Transcript: ENSMUST00000159390
AA Change: Y177N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238
AA Change: Y177N
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.8490 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (77/77) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
T |
C |
2: 155,845,848 (GRCm39) |
H3R |
unknown |
Het |
| Adam18 |
T |
A |
8: 25,136,321 (GRCm39) |
E400V |
possibly damaging |
Het |
| Ak5 |
A |
T |
3: 152,183,989 (GRCm39) |
F473I |
probably damaging |
Het |
| Arhgef10l |
G |
A |
4: 140,290,115 (GRCm39) |
P486S |
probably damaging |
Het |
| Asphd1 |
T |
A |
7: 126,548,001 (GRCm39) |
R101W |
possibly damaging |
Het |
| Bhlha15 |
G |
A |
5: 144,128,223 (GRCm39) |
E112K |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,961,364 (GRCm39) |
D198E |
possibly damaging |
Het |
| Carmil1 |
G |
T |
13: 24,228,294 (GRCm39) |
P961T |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,554,282 (GRCm39) |
S659P |
possibly damaging |
Het |
| Cdh3 |
C |
T |
8: 107,263,241 (GRCm39) |
R97* |
probably null |
Het |
| Cep192 |
T |
C |
18: 67,989,268 (GRCm39) |
I1805T |
probably damaging |
Het |
| Cep250 |
T |
G |
2: 155,823,331 (GRCm39) |
L995R |
probably damaging |
Het |
| Cfap276 |
T |
A |
3: 108,450,864 (GRCm39) |
I102N |
probably benign |
Het |
| Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,452,469 (GRCm39) |
K809E |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,130 (GRCm39) |
T1467A |
|
Het |
| Ctla2a |
T |
A |
13: 61,083,463 (GRCm39) |
R60S |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,350,014 (GRCm39) |
D22E |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,532 (GRCm39) |
E109V |
probably benign |
Het |
| Dgka |
G |
A |
10: 128,556,594 (GRCm39) |
P701S |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,354,504 (GRCm39) |
I3089F |
possibly damaging |
Het |
| Dock2 |
T |
A |
11: 34,609,816 (GRCm39) |
D208V |
probably benign |
Het |
| Fnbp1l |
G |
T |
3: 122,338,286 (GRCm39) |
Q520K |
probably benign |
Het |
| Foxc1 |
A |
G |
13: 31,991,618 (GRCm39) |
D143G |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,815,601 (GRCm39) |
R3778Q |
possibly damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,969,508 (GRCm39) |
C4S |
probably damaging |
Het |
| Gpt |
C |
A |
15: 76,582,717 (GRCm39) |
T294K |
probably benign |
Het |
| Hsd17b4 |
G |
T |
18: 50,279,491 (GRCm39) |
G157C |
probably damaging |
Het |
| Iars1 |
G |
A |
13: 49,882,153 (GRCm39) |
E1066K |
probably benign |
Het |
| Ifih1 |
G |
A |
2: 62,453,832 (GRCm39) |
T260I |
possibly damaging |
Het |
| Ighv5-8 |
TATATATATATATATATATATA |
TATATATATATATATATATATATA |
12: 113,618,565 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
T |
A |
10: 6,922,244 (GRCm39) |
*338R |
probably null |
Het |
| Kif20a |
A |
G |
18: 34,760,729 (GRCm39) |
T166A |
probably damaging |
Het |
| Map3k1 |
G |
A |
13: 111,891,742 (GRCm39) |
A1171V |
probably damaging |
Het |
| Map3k21 |
T |
C |
8: 126,661,855 (GRCm39) |
F484S |
probably damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,523,051 (GRCm39) |
Q180L |
probably benign |
Het |
| Mmp2 |
T |
C |
8: 93,562,755 (GRCm39) |
F331L |
possibly damaging |
Het |
| Ms4a7 |
G |
T |
19: 11,298,916 (GRCm39) |
H257N |
probably benign |
Het |
| Mtbp |
T |
A |
15: 55,432,547 (GRCm39) |
S285T |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,058,220 (GRCm39) |
D70E |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,562,068 (GRCm39) |
N852S |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,510,429 (GRCm39) |
F574Y |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,457,100 (GRCm39) |
I2322T |
possibly damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,523,899 (GRCm39) |
L527P |
probably damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,621 (GRCm39) |
W142R |
probably damaging |
Het |
| Nxnl1 |
C |
T |
8: 72,019,105 (GRCm39) |
G40D |
probably damaging |
Het |
| Or52n1 |
C |
T |
7: 104,382,815 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,115 (GRCm39) |
T45M |
probably benign |
Het |
| Otof |
A |
T |
5: 30,533,051 (GRCm39) |
W1564R |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,850,327 (GRCm39) |
Y778C |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,624 (GRCm39) |
|
probably null |
Het |
| Pdpr |
T |
A |
8: 111,839,385 (GRCm39) |
N169K |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,762,641 (GRCm39) |
V1379F |
possibly damaging |
Het |
| Ppp4r1 |
T |
G |
17: 66,144,786 (GRCm39) |
I801S |
probably benign |
Het |
| Ppp4r4 |
A |
T |
12: 103,579,065 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
A |
G |
13: 13,366,327 (GRCm39) |
D202G |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,305,237 (GRCm39) |
T323A |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,036,010 (GRCm39) |
M501T |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,729,718 (GRCm39) |
M310T |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,596,047 (GRCm39) |
I81F |
probably benign |
Het |
| Rock1 |
C |
T |
18: 10,097,599 (GRCm39) |
A730T |
possibly damaging |
Het |
| Rsl1 |
C |
T |
13: 67,330,101 (GRCm39) |
T183I |
possibly damaging |
Het |
| Scyl3 |
T |
C |
1: 163,778,487 (GRCm39) |
|
probably null |
Het |
| Snap29 |
T |
C |
16: 17,237,236 (GRCm39) |
F116L |
probably damaging |
Het |
| Syt5 |
A |
T |
7: 4,545,395 (GRCm39) |
|
probably null |
Het |
| Tat |
T |
C |
8: 110,724,200 (GRCm39) |
L363P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,601,316 (GRCm39) |
V18719A |
possibly damaging |
Het |
| Ube2e2 |
T |
A |
14: 18,630,339 (GRCm38) |
D107V |
probably damaging |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,013 (GRCm39) |
S177P |
possibly damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,282,947 (GRCm39) |
W214R |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,498 (GRCm39) |
F615I |
probably damaging |
Het |
| Vmn2r91 |
G |
T |
17: 18,356,060 (GRCm39) |
V576L |
probably benign |
Het |
| Vsig10l |
A |
C |
7: 43,117,431 (GRCm39) |
T573P |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,416,172 (GRCm39) |
Q276R |
probably null |
Het |
| Zc3h7b |
T |
C |
15: 81,653,354 (GRCm39) |
V86A |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,944 (GRCm39) |
K390E |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
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'- GGTCCTCATAAAATGTACGTCTCTGC -3'
(R):5'- TTAGCTCACTGGGTCCACAC -3'
Sequencing Primer
(F):5'- CATAAAATGTACGTCTCTGCTTTTG -3'
(R):5'- GGGTCCACACCATGAGTTTATTAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation