Incidental Mutation 'R4677:Zeb1'
| ID |
349703 |
| 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 |
042014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R4677 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5766775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 429
(I429F)
|
| 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: I429F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: I429F
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (85/85) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,793,587 (GRCm39) |
M1T |
probably null |
Het |
| Akap3 |
T |
C |
6: 126,842,226 (GRCm39) |
S282P |
probably damaging |
Het |
| Anxa10 |
A |
G |
8: 62,516,054 (GRCm39) |
I206T |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,779,713 (GRCm39) |
D52G |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,439,228 (GRCm39) |
|
probably null |
Het |
| Calcoco1 |
T |
C |
15: 102,626,329 (GRCm39) |
E87G |
probably damaging |
Het |
| Ccdc88b |
C |
A |
19: 6,825,636 (GRCm39) |
A1206S |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,923,197 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,901 (GRCm39) |
N852D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,336,665 (GRCm39) |
Q41L |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,516,020 (GRCm39) |
T145A |
unknown |
Het |
| Dcdc2b |
T |
C |
4: 129,507,936 (GRCm39) |
T39A |
probably damaging |
Het |
| Ddx55 |
A |
T |
5: 124,705,997 (GRCm39) |
D474V |
probably benign |
Het |
| Dipk2a |
A |
T |
9: 94,402,457 (GRCm39) |
C402S |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,010,640 (GRCm39) |
L521P |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,707,010 (GRCm39) |
D497G |
probably null |
Het |
| Fam151a |
A |
G |
4: 106,605,456 (GRCm39) |
E606G |
possibly damaging |
Het |
| Fbxw11 |
T |
A |
11: 32,692,535 (GRCm39) |
L502* |
probably null |
Het |
| Fcrl1 |
A |
G |
3: 87,297,563 (GRCm39) |
S337G |
possibly damaging |
Het |
| G6pc1 |
C |
A |
11: 101,267,439 (GRCm39) |
F296L |
probably benign |
Het |
| Gm17472 |
C |
A |
6: 42,957,809 (GRCm39) |
T26N |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,751,870 (GRCm39) |
V564A |
probably benign |
Het |
| H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,726 (GRCm39) |
Y195H |
probably damaging |
Het |
| Igkc |
A |
T |
6: 70,703,662 (GRCm39) |
|
probably benign |
Het |
| Islr |
A |
T |
9: 58,064,642 (GRCm39) |
D288E |
probably damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,523,197 (GRCm39) |
S36G |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,821,159 (GRCm39) |
H3134Q |
possibly damaging |
Het |
| Loricrin |
A |
G |
3: 91,989,050 (GRCm39) |
Y79H |
unknown |
Het |
| Lrp1b |
A |
G |
2: 40,691,496 (GRCm39) |
F3327S |
probably damaging |
Het |
| Lrrc41 |
C |
T |
4: 115,952,332 (GRCm39) |
H637Y |
probably benign |
Het |
| Map2k6 |
C |
T |
11: 110,290,220 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
T |
G |
10: 76,306,404 (GRCm39) |
F172L |
probably damaging |
Het |
| Muc19 |
G |
A |
15: 91,772,411 (GRCm39) |
|
noncoding transcript |
Het |
| Muc21 |
T |
A |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,224,212 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,481,840 (GRCm39) |
I252L |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,154,152 (GRCm39) |
H588Q |
possibly damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,878 (GRCm39) |
V351A |
possibly damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,062 (GRCm39) |
N155S |
probably benign |
Het |
| Or51b17 |
T |
C |
7: 103,542,615 (GRCm39) |
E109G |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,315 (GRCm39) |
T44A |
possibly damaging |
Het |
| Or8k1 |
A |
T |
2: 86,048,032 (GRCm39) |
S7R |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,411,865 (GRCm39) |
N480D |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,145,833 (GRCm39) |
K374E |
probably damaging |
Het |
| Pdhx |
G |
A |
2: 102,903,811 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,100,237 (GRCm39) |
Y1888H |
probably damaging |
Het |
| Pnpla2 |
T |
A |
7: 141,038,356 (GRCm39) |
M203K |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
| Ptcd3 |
G |
T |
6: 71,870,498 (GRCm39) |
H321N |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,743,366 (GRCm39) |
|
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,342,100 (GRCm39) |
T192A |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,386,889 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,187,387 (GRCm39) |
P1372S |
possibly damaging |
Het |
| Rps6ka4 |
G |
T |
19: 6,816,854 (GRCm39) |
T107K |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,329,980 (GRCm39) |
T1169A |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,721,553 (GRCm39) |
W2626L |
probably damaging |
Het |
| Scn4a |
C |
T |
11: 106,214,788 (GRCm39) |
V1270I |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,806 (GRCm39) |
S333P |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,224,019 (GRCm39) |
|
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,137,137 (GRCm39) |
V262M |
possibly damaging |
Het |
| Tll1 |
A |
T |
8: 64,504,411 (GRCm39) |
F662I |
probably benign |
Het |
| Tmem161a |
A |
T |
8: 70,633,597 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
C |
15: 75,535,907 (GRCm39) |
V465G |
possibly damaging |
Het |
| Trcg1 |
A |
G |
9: 57,153,144 (GRCm39) |
K596E |
possibly damaging |
Het |
| Trim27 |
T |
A |
13: 21,365,086 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,964,752 (GRCm39) |
I1406V |
possibly damaging |
Het |
| Tssc4 |
T |
A |
7: 142,624,246 (GRCm39) |
S254T |
probably damaging |
Het |
| Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,257,705 (GRCm39) |
T288A |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,343,692 (GRCm39) |
R441S |
probably benign |
Het |
| Vmn1r29 |
T |
C |
6: 58,284,285 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,613,082 (GRCm39) |
I46L |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,212,176 (GRCm39) |
R421G |
probably benign |
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 |
|
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'- TTAGCAGTGGTGGCCAATTG -3'
(R):5'- GGTAACTTCTCACTTTTGCAGCTG -3'
Sequencing Primer
(F):5'- AACCAGTTCTCCTCAGGGTGTG -3'
(R):5'- CTCACTTTTGCAGCTGTTTGTAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation