Incidental Mutation 'R6354:Zeb1'
| ID |
512992 |
| 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 |
044506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6354 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5772743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1011
(T1011A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
|
| AlphaFold |
Q64318 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025081
AA Change: T1011A
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: T1011A
| 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 |
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 |
0.0980 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,685,042 (GRCm39) |
K152E |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,245,691 (GRCm39) |
C537F |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,445,581 (GRCm39) |
T808S |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,402 (GRCm39) |
I205T |
possibly damaging |
Het |
| Casz1 |
G |
T |
4: 149,036,999 (GRCm39) |
G1754C |
unknown |
Het |
| Ccdc62 |
C |
T |
5: 124,082,267 (GRCm39) |
A232V |
probably damaging |
Het |
| Cdc27 |
C |
A |
11: 104,425,574 (GRCm39) |
D81Y |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,099,928 (GRCm39) |
S869P |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,440,818 (GRCm39) |
T1125I |
probably damaging |
Het |
| Ciita |
A |
T |
16: 10,341,610 (GRCm39) |
K983N |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,430,527 (GRCm39) |
|
probably null |
Het |
| Clstn1 |
A |
C |
4: 149,727,673 (GRCm39) |
Q523P |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,495,145 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
| Csmd3 |
C |
T |
15: 47,744,885 (GRCm39) |
G1370D |
probably damaging |
Het |
| Cwf19l1 |
G |
T |
19: 44,115,912 (GRCm39) |
D172E |
probably benign |
Het |
| Cyp4a14 |
A |
G |
4: 115,344,441 (GRCm39) |
F475L |
probably damaging |
Het |
| Fam98c |
C |
T |
7: 28,852,272 (GRCm39) |
V298M |
probably damaging |
Het |
| Gcsh |
T |
C |
8: 117,710,582 (GRCm39) |
N127S |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,663,814 (GRCm39) |
F10S |
possibly damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,755 (GRCm39) |
A468T |
probably damaging |
Het |
| Gm5111 |
G |
A |
6: 48,567,268 (GRCm39) |
|
probably benign |
Het |
| Gm7137 |
C |
A |
10: 77,623,481 (GRCm39) |
|
probably benign |
Het |
| Inpp1 |
A |
G |
1: 52,836,224 (GRCm39) |
S81P |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,662,090 (GRCm39) |
|
probably null |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap13 |
C |
A |
16: 88,548,131 (GRCm39) |
C119F |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,088,064 (GRCm39) |
D904E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,355,213 (GRCm39) |
I2535F |
unknown |
Het |
| Lrrc40 |
T |
A |
3: 157,766,901 (GRCm39) |
L452* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,966,184 (GRCm39) |
M63K |
possibly damaging |
Het |
| Mpo |
T |
A |
11: 87,688,172 (GRCm39) |
I277N |
possibly damaging |
Het |
| Mtmr11 |
T |
A |
3: 96,075,992 (GRCm39) |
F406I |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,575,476 (GRCm39) |
S1411P |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,208,465 (GRCm39) |
I31F |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,478 (GRCm39) |
I110N |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,915 (GRCm39) |
T195I |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,179,282 (GRCm39) |
G298R |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,477 (GRCm39) |
Y368C |
probably damaging |
Het |
| Pik3cb |
G |
T |
9: 98,955,696 (GRCm39) |
T407K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,328,513 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
T |
G |
5: 113,430,522 (GRCm39) |
T288P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,584,061 (GRCm39) |
S410P |
probably damaging |
Het |
| Tmc6 |
A |
C |
11: 117,665,062 (GRCm39) |
C404G |
probably benign |
Het |
| Tnrc6c |
A |
T |
11: 117,640,440 (GRCm39) |
Q1410L |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,280,792 (GRCm39) |
T384S |
probably null |
Het |
| Txlna |
A |
T |
4: 129,528,205 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,868,581 (GRCm39) |
F939L |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,574 (GRCm39) |
I781F |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,399,747 (GRCm39) |
|
probably null |
Het |
| Vps36 |
T |
C |
8: 22,695,771 (GRCm39) |
S109P |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,666 (GRCm39) |
I82M |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,360,903 (GRCm39) |
R511G |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,467,011 (GRCm39) |
S2390P |
probably benign |
Het |
| Zfp619 |
C |
A |
7: 39,184,243 (GRCm39) |
T91K |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,619 (GRCm39) |
S643P |
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 |
|
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 |
|
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'- CCTATCAATGTGACAAGTGTGGC -3'
(R):5'- TACCATCAGTCTTGGCTGCTG -3'
Sequencing Primer
(F):5'- AAGTGTGGCAAGCGCTTCTC -3'
(R):5'- TGCTGCCTCATGCTCGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation