Incidental Mutation 'R8772:Zeb1'
| ID |
664505 |
| 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 |
068626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R8772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
5591860-5775467 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 5770382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025081]
[ENSMUST00000159390]
[ENSMUST00000175925]
|
| AlphaFold |
Q64318 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025081
|
| SMART Domains |
Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (83/83) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,903 (GRCm39) |
V574A |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,449 (GRCm39) |
Y20C |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,322,179 (GRCm39) |
D231V |
possibly damaging |
Het |
| Acp7 |
C |
T |
7: 28,315,909 (GRCm39) |
V226M |
probably damaging |
Het |
| Actr1a |
A |
G |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
C |
13: 70,984,453 (GRCm39) |
Y70C |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,119,958 (GRCm39) |
A1156T |
probably damaging |
Het |
| Ago1 |
A |
T |
4: 126,354,316 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,096,255 (GRCm39) |
E2377K |
probably damaging |
Het |
| Asic2 |
A |
G |
11: 81,858,713 (GRCm39) |
S100P |
probably benign |
Het |
| Atp1a1 |
A |
C |
3: 101,487,124 (GRCm39) |
V895G |
probably benign |
Het |
| B3gnt7 |
A |
G |
1: 86,233,294 (GRCm39) |
E180G |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,579,283 (GRCm39) |
F1805I |
|
Het |
| Cacna1g |
A |
G |
11: 94,356,713 (GRCm39) |
I141T |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,506,033 (GRCm39) |
L919P |
probably damaging |
Het |
| Cd47 |
A |
G |
16: 49,704,575 (GRCm39) |
I116V |
|
Het |
| Cdca2 |
A |
T |
14: 67,935,529 (GRCm39) |
D395E |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,304,389 (GRCm39) |
I2285N |
possibly damaging |
Het |
| Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
| Ciita |
A |
T |
16: 10,298,026 (GRCm39) |
I7F |
probably damaging |
Het |
| Dok7 |
G |
T |
5: 35,234,593 (GRCm39) |
G215C |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,729,659 (GRCm39) |
I88V |
probably null |
Het |
| Fasn |
A |
T |
11: 120,711,362 (GRCm39) |
D217E |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 92,027,400 (GRCm39) |
I1030N |
probably damaging |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,495 (GRCm39) |
N289Y |
probably damaging |
Het |
| Gm10392 |
C |
T |
11: 77,409,280 (GRCm39) |
V49I |
possibly damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,331,758 (GRCm39) |
M20K |
probably benign |
Het |
| Hoga1 |
A |
G |
19: 42,034,384 (GRCm39) |
M10V |
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,528,239 (GRCm39) |
V258E |
probably damaging |
Het |
| Ifitm2 |
A |
G |
7: 140,535,803 (GRCm39) |
L9S |
probably benign |
Het |
| Iqgap3 |
G |
A |
3: 87,997,144 (GRCm39) |
A176T |
probably benign |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,812,077 (GRCm39) |
Q830* |
probably null |
Het |
| Macc1 |
T |
C |
12: 119,411,220 (GRCm39) |
W663R |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,372,418 (GRCm39) |
H159L |
probably benign |
Het |
| Mocs1 |
T |
A |
17: 49,757,402 (GRCm39) |
|
probably null |
Het |
| Ncoa1 |
T |
C |
12: 4,372,940 (GRCm39) |
T154A |
possibly damaging |
Het |
| Noxred1 |
A |
C |
12: 87,273,867 (GRCm39) |
L58R |
probably benign |
Het |
| Opcml |
T |
C |
9: 27,702,707 (GRCm39) |
V9A |
probably benign |
Het |
| Or51e2 |
G |
A |
7: 102,392,210 (GRCm39) |
|
probably benign |
Het |
| Or5ac23 |
A |
G |
16: 59,149,051 (GRCm39) |
S274P |
probably damaging |
Het |
| Or8c17 |
G |
A |
9: 38,180,231 (GRCm39) |
V133I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,934,352 (GRCm39) |
R1303S |
probably damaging |
Het |
| Parp11 |
T |
A |
6: 127,468,667 (GRCm39) |
I322N |
probably damaging |
Het |
| Parp11 |
T |
A |
6: 127,447,726 (GRCm39) |
M20K |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,433,548 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
A |
T |
3: 90,647,707 (GRCm39) |
T356S |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,628,596 (GRCm39) |
D963G |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,017,773 (GRCm39) |
V183A |
probably damaging |
Het |
| Plxnb2 |
C |
T |
15: 89,046,949 (GRCm39) |
V791M |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,992,219 (GRCm39) |
|
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,282,150 (GRCm39) |
T234A |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,065,463 (GRCm39) |
T1441I |
probably damaging |
Het |
| Rap1gap2 |
T |
C |
11: 74,296,551 (GRCm39) |
K479E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,623,488 (GRCm39) |
D63G |
probably benign |
Het |
| Rptor |
A |
C |
11: 119,615,858 (GRCm39) |
D124A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,815,557 (GRCm39) |
R118L |
probably benign |
Het |
| Sap130 |
G |
C |
18: 31,813,517 (GRCm39) |
D525H |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,477 (GRCm39) |
N310D |
probably benign |
Het |
| Slc46a1 |
T |
G |
11: 78,356,777 (GRCm39) |
N58K |
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,134,284 (GRCm39) |
I1000N |
probably damaging |
Het |
| Son |
C |
T |
16: 91,454,826 (GRCm39) |
T1191I |
possibly damaging |
Het |
| Sppl2a |
T |
C |
2: 126,768,231 (GRCm39) |
K146E |
probably benign |
Het |
| Srgap3 |
T |
A |
6: 112,743,906 (GRCm39) |
K444I |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,209,447 (GRCm39) |
V59A |
probably benign |
Het |
| Sva |
T |
A |
6: 42,015,443 (GRCm39) |
Y37N |
probably benign |
Het |
| Taar8c |
T |
A |
10: 23,977,705 (GRCm39) |
M36L |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,968,909 (GRCm39) |
T682I |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,976,790 (GRCm39) |
H59Q |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,843,760 (GRCm39) |
Y746F |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,325,137 (GRCm39) |
S46G |
probably damaging |
Het |
| Tnfaip6 |
T |
A |
2: 51,941,077 (GRCm39) |
V206E |
possibly damaging |
Het |
| Tpbpb |
T |
A |
13: 61,049,193 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,768,025 (GRCm39) |
K3025* |
probably null |
Het |
| Tulp4 |
T |
A |
17: 6,227,168 (GRCm39) |
I106N |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,801,897 (GRCm39) |
F454Y |
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,402,345 (GRCm39) |
N95K |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,801,602 (GRCm39) |
R3539W |
|
Het |
| Vsnl1 |
T |
C |
12: 11,382,180 (GRCm39) |
H67R |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 75,062,692 (GRCm39) |
Y22H |
probably benign |
Het |
| Zfp142 |
A |
T |
1: 74,610,825 (GRCm39) |
L990Q |
possibly damaging |
Het |
| Zmiz1 |
G |
A |
14: 25,646,118 (GRCm39) |
G265D |
probably damaging |
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 |
|
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 |
|
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'- TGGAGGGCTTCACATCTAACATG -3'
(R):5'- ACCTTTAGAACCTCGTGCCC -3'
Sequencing Primer
(F):5'- AGCTCTCACACGTGGAGGTC -3'
(R):5'- TTAGAACCTCGTGCCCAGGTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation