Incidental Mutation 'R0622:Zeb1'
ID |
58760 |
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 |
038811-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R0622 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 5759123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 140
(Q140*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
[ENSMUST00000159390]
[ENSMUST00000160910]
[ENSMUST00000175925]
|
AlphaFold |
Q64318 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025081
AA Change: Q194*
|
SMART Domains |
Protein: ENSMUSP00000025081 Gene: ENSMUSG00000024238 AA Change: Q194*
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 null
Transcript: ENSMUST00000159390
AA Change: Q140*
|
SMART Domains |
Protein: ENSMUSP00000124395 Gene: ENSMUSG00000024238 AA Change: Q140*
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177070
|
SMART Domains |
Protein: ENSMUSP00000135543 Gene: ENSMUSG00000024238
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
130 |
153 |
3.16e-3 |
SMART |
ZnF_C2H2
|
160 |
182 |
3.21e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
T |
A |
13: 30,565,664 (GRCm39) |
M243K |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,987,707 (GRCm39) |
M744V |
probably damaging |
Het |
Ccdc152 |
T |
C |
15: 3,327,660 (GRCm39) |
N39S |
probably damaging |
Het |
Cd163 |
G |
A |
6: 124,294,311 (GRCm39) |
V490M |
probably damaging |
Het |
Col6a5 |
G |
T |
9: 105,803,051 (GRCm39) |
H1305N |
unknown |
Het |
Cpb1 |
C |
A |
3: 20,303,982 (GRCm39) |
D361Y |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,412,656 (GRCm39) |
Y1248F |
probably damaging |
Het |
Dhdds |
G |
C |
4: 133,721,547 (GRCm39) |
F83L |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,582,845 (GRCm39) |
V161E |
possibly damaging |
Het |
Exosc4 |
A |
G |
15: 76,211,736 (GRCm39) |
D15G |
probably damaging |
Het |
F3 |
A |
T |
3: 121,518,668 (GRCm39) |
D44V |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,173,954 (GRCm39) |
F2253Y |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,220,944 (GRCm39) |
D650G |
possibly damaging |
Het |
Gramd4 |
T |
A |
15: 85,975,590 (GRCm39) |
F36I |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,335,457 (GRCm39) |
A623T |
probably damaging |
Het |
Gys1 |
A |
T |
7: 45,089,419 (GRCm39) |
T193S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,486,688 (GRCm39) |
T3228A |
possibly damaging |
Het |
Itpk1 |
G |
T |
12: 102,540,239 (GRCm39) |
D281E |
probably damaging |
Het |
Kcnh7 |
A |
C |
2: 62,667,633 (GRCm39) |
|
probably null |
Het |
Klhl29 |
A |
G |
12: 5,131,224 (GRCm39) |
L852P |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,033,491 (GRCm39) |
Y509C |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,618,563 (GRCm39) |
|
probably null |
Het |
Mcpt4 |
C |
A |
14: 56,298,119 (GRCm39) |
R144L |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,178,364 (GRCm39) |
R12W |
probably damaging |
Het |
Mrps5 |
A |
G |
2: 127,436,451 (GRCm39) |
K116R |
probably benign |
Het |
Myrf |
G |
A |
19: 10,200,816 (GRCm39) |
P286S |
probably damaging |
Het |
Nanp |
A |
G |
2: 150,881,164 (GRCm39) |
M28T |
probably benign |
Het |
Neb |
T |
C |
2: 52,102,963 (GRCm39) |
I4472V |
probably benign |
Het |
Nfix |
A |
C |
8: 85,453,111 (GRCm39) |
N314K |
probably damaging |
Het |
Nlrc3 |
C |
T |
16: 3,771,832 (GRCm39) |
R849Q |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,075,047 (GRCm39) |
V786M |
probably damaging |
Het |
Or2t44 |
T |
C |
11: 58,677,167 (GRCm39) |
S36P |
probably damaging |
Het |
Or52ad1 |
A |
G |
7: 102,996,064 (GRCm39) |
S24P |
probably damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,598 (GRCm39) |
I163T |
possibly damaging |
Het |
Or8c20 |
A |
G |
9: 38,260,667 (GRCm39) |
N96S |
possibly damaging |
Het |
Pdia4 |
A |
T |
6: 47,783,452 (GRCm39) |
F197Y |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,627,149 (GRCm39) |
D432G |
probably damaging |
Het |
Pik3ca |
A |
G |
3: 32,490,701 (GRCm39) |
E116G |
probably damaging |
Het |
Polq |
T |
C |
16: 36,881,355 (GRCm39) |
V1173A |
probably benign |
Het |
Pou2f3 |
C |
T |
9: 43,036,414 (GRCm39) |
R423H |
probably damaging |
Het |
Pramel29 |
T |
C |
4: 143,939,583 (GRCm39) |
|
probably benign |
Het |
Prkag2 |
T |
C |
5: 25,074,247 (GRCm39) |
N246S |
probably damaging |
Het |
Proser1 |
A |
G |
3: 53,385,281 (GRCm39) |
S388G |
probably benign |
Het |
Ralgps1 |
G |
A |
2: 33,064,459 (GRCm39) |
R238* |
probably null |
Het |
Rfx2 |
T |
C |
17: 57,084,071 (GRCm39) |
D657G |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,492,900 (GRCm39) |
F3724S |
probably damaging |
Het |
Sh2d5 |
T |
C |
4: 137,986,539 (GRCm39) |
S421P |
probably damaging |
Het |
Slc34a1 |
C |
A |
13: 23,996,594 (GRCm39) |
T33K |
probably damaging |
Het |
St8sia5 |
A |
G |
18: 77,333,809 (GRCm39) |
T156A |
probably damaging |
Het |
Stk32c |
T |
C |
7: 138,768,026 (GRCm39) |
D85G |
probably benign |
Het |
Tnks |
A |
G |
8: 35,407,976 (GRCm39) |
S251P |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,937,703 (GRCm39) |
L3864Q |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,393,378 (GRCm39) |
Y189H |
probably damaging |
Het |
Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
Wasf3 |
A |
G |
5: 146,403,602 (GRCm39) |
|
probably null |
Het |
Wdr90 |
C |
T |
17: 26,074,632 (GRCm39) |
C603Y |
probably damaging |
Het |
Zdhhc25 |
T |
C |
15: 88,485,310 (GRCm39) |
L215P |
probably damaging |
Het |
Zfp677 |
C |
T |
17: 21,617,962 (GRCm39) |
L340F |
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 |
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 |
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'- CTTCCTTCCACAGGAACACCAGATG -3'
(R):5'- TCACAGAGCGACTCTGAGGGATAC -3'
Sequencing Primer
(F):5'- ATGCATTTTCCCAGTTGCTCAC -3'
(R):5'- TACGTTAGGATGGCAAGGCTTAC -3'
|
Posted On |
2013-07-11 |