Incidental Mutation 'R1797:Zeb1'
ID |
202420 |
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 |
039827-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R1797 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 5766298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 216
(K216*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
[ENSMUST00000159390]
[ENSMUST00000175925]
|
AlphaFold |
Q64318 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025081
AA Change: K270*
|
SMART Domains |
Protein: ENSMUSP00000025081 Gene: ENSMUSG00000024238 AA Change: K270*
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: K216*
|
SMART Domains |
Protein: ENSMUSP00000124395 Gene: ENSMUSG00000024238 AA Change: K216*
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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,089,285 (GRCm39) |
K200E |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,803,225 (GRCm39) |
E687G |
possibly damaging |
Het |
Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
Abcg3 |
C |
T |
5: 105,087,030 (GRCm39) |
S534N |
possibly damaging |
Het |
Acp1 |
A |
G |
12: 30,946,113 (GRCm39) |
|
probably null |
Het |
Adam12 |
C |
A |
7: 133,569,590 (GRCm39) |
R295L |
probably benign |
Het |
Albfm1 |
A |
T |
5: 90,727,460 (GRCm39) |
E359D |
probably damaging |
Het |
Alg1 |
C |
A |
16: 5,057,007 (GRCm39) |
H213Q |
probably benign |
Het |
Ap4b1 |
T |
A |
3: 103,726,149 (GRCm39) |
W410R |
possibly damaging |
Het |
As3mt |
A |
G |
19: 46,713,373 (GRCm39) |
T307A |
possibly damaging |
Het |
Cdc14a |
T |
C |
3: 116,115,843 (GRCm39) |
I289V |
probably damaging |
Het |
Cdk17 |
A |
G |
10: 93,044,114 (GRCm39) |
I18V |
possibly damaging |
Het |
Cep131 |
C |
T |
11: 119,964,562 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
Cnih2 |
T |
C |
19: 5,144,314 (GRCm39) |
K66E |
probably benign |
Het |
Cpsf3 |
T |
A |
12: 21,356,851 (GRCm39) |
N491K |
probably benign |
Het |
Cux1 |
C |
T |
5: 136,304,169 (GRCm39) |
E1253K |
probably benign |
Het |
Dcc |
A |
C |
18: 71,500,232 (GRCm39) |
L1005R |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,739,439 (GRCm39) |
M200K |
probably damaging |
Het |
Ech1 |
A |
G |
7: 28,531,288 (GRCm39) |
Y292C |
probably damaging |
Het |
Edc4 |
G |
T |
8: 106,617,717 (GRCm39) |
A1121S |
probably benign |
Het |
Eml6 |
T |
A |
11: 29,832,041 (GRCm39) |
I210F |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,324,290 (GRCm39) |
T1226A |
probably benign |
Het |
Flg2 |
C |
T |
3: 93,108,283 (GRCm39) |
R104C |
probably damaging |
Het |
Frzb |
T |
C |
2: 80,276,872 (GRCm39) |
I105V |
possibly damaging |
Het |
Gli3 |
A |
G |
13: 15,888,097 (GRCm39) |
D504G |
probably damaging |
Het |
Gm42669 |
A |
T |
5: 107,655,683 (GRCm39) |
K1161* |
probably null |
Het |
Gm6665 |
T |
C |
18: 31,953,186 (GRCm39) |
E63G |
possibly damaging |
Het |
Gm9923 |
T |
C |
10: 72,145,593 (GRCm39) |
V148A |
probably benign |
Het |
Hoxc5 |
T |
C |
15: 102,922,866 (GRCm39) |
I118T |
probably benign |
Het |
Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
Impdh1 |
T |
A |
6: 29,207,168 (GRCm39) |
I59F |
probably damaging |
Het |
Iqch |
G |
A |
9: 63,495,659 (GRCm39) |
P111S |
possibly damaging |
Het |
Itih1 |
G |
T |
14: 30,651,856 (GRCm39) |
Q829K |
probably damaging |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Kmt5b |
G |
T |
19: 3,864,833 (GRCm39) |
E632D |
probably benign |
Het |
L2hgdh |
C |
T |
12: 69,746,340 (GRCm39) |
M373I |
probably benign |
Het |
Map3k4 |
C |
T |
17: 12,482,906 (GRCm39) |
E604K |
probably benign |
Het |
Mok |
T |
A |
12: 110,774,479 (GRCm39) |
Y420F |
probably benign |
Het |
Nedd1 |
G |
A |
10: 92,534,601 (GRCm39) |
T303I |
possibly damaging |
Het |
Nipal4 |
T |
A |
11: 46,042,160 (GRCm39) |
M174L |
probably benign |
Het |
Or6c213 |
A |
C |
10: 129,574,578 (GRCm39) |
I69M |
probably benign |
Het |
Pag1 |
T |
A |
3: 9,758,946 (GRCm39) |
T391S |
probably benign |
Het |
Palm3 |
A |
G |
8: 84,755,432 (GRCm39) |
R315G |
probably benign |
Het |
Patj |
C |
T |
4: 98,575,675 (GRCm39) |
R1177W |
probably damaging |
Het |
Pbld2 |
G |
A |
10: 62,910,903 (GRCm39) |
|
probably null |
Het |
Phldb1 |
A |
T |
9: 44,627,842 (GRCm39) |
M81K |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,515,289 (GRCm39) |
F682L |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,747,392 (GRCm39) |
|
probably null |
Het |
Plekha8 |
T |
A |
6: 54,617,959 (GRCm39) |
V518E |
probably damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,717,981 (GRCm39) |
M978L |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,564,410 (GRCm39) |
C592S |
possibly damaging |
Het |
Prdx6b |
T |
A |
2: 80,123,546 (GRCm39) |
D118E |
possibly damaging |
Het |
Ptprg |
T |
C |
14: 12,199,743 (GRCm38) |
V52A |
probably damaging |
Het |
Rab27b |
A |
G |
18: 70,122,617 (GRCm39) |
M114T |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,230,723 (GRCm39) |
|
probably null |
Het |
Rasa3 |
G |
A |
8: 13,632,372 (GRCm39) |
P506L |
probably benign |
Het |
Rps6kb1 |
G |
A |
11: 86,393,634 (GRCm39) |
R499* |
probably null |
Het |
S1pr4 |
A |
G |
10: 81,335,024 (GRCm39) |
M150T |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
Serpina1e |
T |
C |
12: 103,917,150 (GRCm39) |
K173R |
probably benign |
Het |
Serpina3m |
T |
A |
12: 104,355,774 (GRCm39) |
I147N |
probably damaging |
Het |
Sh3rf3 |
G |
T |
10: 58,922,489 (GRCm39) |
G522* |
probably null |
Het |
Smad1 |
A |
T |
8: 80,070,473 (GRCm39) |
V355E |
probably damaging |
Het |
Srsf11 |
A |
G |
3: 157,725,065 (GRCm39) |
V211A |
possibly damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stt3a |
C |
T |
9: 36,654,711 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
C |
12: 76,010,557 (GRCm39) |
V2488A |
probably benign |
Het |
Tbc1d23 |
T |
C |
16: 56,993,463 (GRCm39) |
T568A |
possibly damaging |
Het |
Tnn |
A |
C |
1: 159,968,258 (GRCm39) |
V378G |
probably damaging |
Het |
Trim50 |
T |
C |
5: 135,382,355 (GRCm39) |
V69A |
possibly damaging |
Het |
Ttll10 |
A |
T |
4: 156,132,024 (GRCm39) |
D19E |
probably damaging |
Het |
Ushbp1 |
G |
A |
8: 71,841,567 (GRCm39) |
R421C |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,042,128 (GRCm39) |
T196A |
probably benign |
Het |
Wdr64 |
G |
A |
1: 175,639,585 (GRCm39) |
S1028N |
probably damaging |
Het |
Wwtr1 |
T |
C |
3: 57,369,996 (GRCm39) |
Y373C |
probably damaging |
Het |
Zfp39 |
T |
C |
11: 58,791,486 (GRCm39) |
D67G |
probably damaging |
Het |
Zfp40 |
A |
G |
17: 23,394,514 (GRCm39) |
I691T |
possibly damaging |
Het |
Zfp532 |
T |
C |
18: 65,758,215 (GRCm39) |
V716A |
probably benign |
Het |
Zfp616 |
T |
A |
11: 73,976,105 (GRCm39) |
C791* |
probably null |
Het |
Zfp932 |
G |
A |
5: 110,144,489 (GRCm39) |
|
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 |
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'- CATGGGCATACAGAGGAGTC -3'
(R):5'- CCTGAAGCAACCACTATGGG -3'
Sequencing Primer
(F):5'- CTTGTAGGCCGTGTGAAA -3'
(R):5'- GCAACCACTATGGGTTTGAACTC -3'
|
Posted On |
2014-06-23 |