Incidental Mutation 'R4385:Zeb2'
| ID | 326146 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Zeb2
|
|---|
| Ensembl Gene |
ENSMUSG00000026872 |
|---|
| Gene Name | zinc finger E-box binding homeobox 2 |
|---|
| Synonyms | Zfhx1b, Zfx1b, SIP1, 9130203F04Rik, D130016B08Rik |
|---|
| MMRRC Submission |
041124-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Essential (E-score: 1.000)
|
|---|
| Stock # | R4385 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 2 |
|---|
| Chromosomal Location | 44983632-45117395 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 45023062 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Aspartic acid to Valine
at position 39
(D39V)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144141
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000127520]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201490]
[ENSMUST00000201211]
[ENSMUST00000201623]
[ENSMUST00000201804]
[ENSMUST00000201969]
[ENSMUST00000202187]
[ENSMUST00000202935]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028229
AA Change: D83V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: D83V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
211 |
234 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
282 |
304 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
310 |
330 |
1.86e1 |
SMART |
|
low complexity region
|
352 |
364 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
581 |
601 |
5.54e1 |
SMART |
|
HOX
|
644 |
706 |
2.05e-3 |
SMART |
|
low complexity region
|
778 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
999 |
1021 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
1027 |
1049 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
1055 |
1076 |
1.89e-1 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1168 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068415
AA Change: D39V
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
211 |
234 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
282 |
304 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
310 |
330 |
1.86e1 |
SMART |
|
low complexity region
|
352 |
364 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
581 |
601 |
5.54e1 |
SMART |
|
HOX
|
644 |
706 |
2.05e-3 |
SMART |
|
low complexity region
|
778 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
999 |
1021 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
1027 |
1049 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
1055 |
1076 |
1.89e-1 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1168 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076836
AA Change: D39V
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
210 |
233 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
309 |
329 |
1.86e1 |
SMART |
|
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
580 |
600 |
5.54e1 |
SMART |
|
HOX
|
643 |
705 |
2.05e-3 |
SMART |
|
low complexity region
|
777 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
880 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
998 |
1020 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
1026 |
1048 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
1054 |
1075 |
1.89e-1 |
SMART |
|
low complexity region
|
1082 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1133 |
1149 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1167 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127520
AA Change: D39V
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131635
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135887
Gene: ENSMUSG00000026872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145529
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134802
Gene: ENSMUSG00000026872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174938
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176438
AA Change: D39V
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
211 |
234 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
282 |
304 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
310 |
330 |
1.86e1 |
SMART |
|
low complexity region
|
352 |
364 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
581 |
601 |
5.54e1 |
SMART |
|
HOX
|
644 |
706 |
2.05e-3 |
SMART |
|
low complexity region
|
778 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
999 |
1021 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
1027 |
1049 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
1055 |
1076 |
1.89e-1 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1168 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176732
AA Change: D39V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135393
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
60 |
83 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
90 |
112 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
4.87e-4 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177302
AA Change: D39V
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
211 |
234 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
282 |
304 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
310 |
330 |
1.86e1 |
SMART |
|
low complexity region
|
352 |
364 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
581 |
601 |
5.54e1 |
SMART |
|
HOX
|
644 |
706 |
2.05e-3 |
SMART |
|
low complexity region
|
778 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
999 |
1021 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
1027 |
1049 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
1055 |
1076 |
1.89e-1 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1168 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200844
AA Change: D39V
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
187 |
210 |
9.2e-6 |
SMART |
|
ZnF_C2H2
|
217 |
239 |
4.2e-7 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
2e-6 |
SMART |
|
ZnF_C2H2
|
286 |
306 |
8e-2 |
SMART |
|
low complexity region
|
328 |
340 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
557 |
577 |
2.4e-1 |
SMART |
|
HOX
|
620 |
682 |
1.1e-5 |
SMART |
|
low complexity region
|
754 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
857 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
975 |
997 |
1.9e-5 |
SMART |
|
ZnF_C2H2
|
1003 |
1025 |
9.6e-4 |
SMART |
|
ZnF_C2H2
|
1031 |
1052 |
7.9e-4 |
SMART |
|
low complexity region
|
1059 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1126 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1144 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201490
AA Change: D83V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201211
AA Change: D39V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144406
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201413
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201623
AA Change: D39V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144075
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
187 |
210 |
9.2e-6 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201804
AA Change: D68V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: D68V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
240 |
263 |
9.2e-6 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
4.2e-7 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
2e-6 |
SMART |
|
ZnF_C2H2
|
339 |
359 |
8e-2 |
SMART |
|
low complexity region
|
381 |
393 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
610 |
630 |
2.4e-1 |
SMART |
|
HOX
|
673 |
731 |
1.2e-3 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201969
AA Change: D39V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144141
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202187
AA Change: D39V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144552
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202371
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202935
AA Change: D39V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143841
Gene: ENSMUSG00000026872
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209076
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202432
|
|---|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mutants exhibit a variety of defects at embryonic day 8.5 and die between embryonic days 9.5 and 10.5. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
T |
C |
6: 149,326,208 |
S251P |
possibly damaging |
Het |
| A530032D15Rik |
C |
T |
1: 85,109,336 |
|
probably null |
Het |
| Abcc3 |
A |
T |
11: 94,368,239 |
I426N |
probably damaging |
Het |
| Abcc6 |
C |
T |
7: 45,995,328 |
V808I |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,566,628 |
Y624H |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,567,276 |
S140P |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 14,930,157 |
C132* |
probably null |
Het |
| Boc |
A |
T |
16: 44,491,182 |
L726H |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 72,428,164 |
D120V |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,534,814 |
R59G |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,797,129 |
R441G |
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,176,352 |
I226V |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,179,474 |
T340S |
possibly damaging |
Het |
| Cnot10 |
T |
A |
9: 114,631,881 |
K74* |
probably null |
Het |
| Col5a1 |
A |
C |
2: 28,024,779 |
M136L |
probably damaging |
Het |
| Coro2a |
A |
T |
4: 46,541,961 |
I387N |
possibly damaging |
Het |
| Csnk1g1 |
T |
C |
9: 66,019,908 |
V119A |
probably damaging |
Het |
| Cyfip2 |
C |
T |
11: 46,242,403 |
M823I |
probably benign |
Het |
| Dcbld2 |
A |
G |
16: 58,463,066 |
K555E |
probably damaging |
Het |
| Dpep3 |
A |
G |
8: 105,978,186 |
M164T |
probably damaging |
Het |
| Flg |
C |
A |
3: 93,293,009 |
|
probably benign |
Het |
| Gm13089 |
C |
T |
4: 143,698,014 |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,316,164 |
D748N |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,286,967 |
D37G |
probably damaging |
Het |
| Iglc1 |
A |
T |
16: 19,061,758 |
C104* |
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 |
|
probably benign |
Het |
| Klk1 |
A |
T |
7: 44,228,569 |
D83V |
probably benign |
Het |
| Klk9 |
T |
C |
7: 43,794,275 |
V71A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,372,911 |
K806R |
probably damaging |
Het |
| Metap1 |
T |
C |
3: 138,475,063 |
E119G |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 56,000,638 |
H1351R |
possibly damaging |
Het |
| Nim1k |
T |
C |
13: 119,712,626 |
D244G |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,459,185 |
|
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,550,490 |
D1136G |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,427,642 |
I657V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,386,265 |
V55A |
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,160,623 |
N1173S |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,533,407 |
|
probably null |
Het |
| Ptprb |
A |
G |
10: 116,346,867 |
S1483G |
probably benign |
Het |
| Rbm48 |
G |
A |
5: 3,590,300 |
P360S |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,955,296 |
E400D |
probably benign |
Het |
| Rfpl4 |
A |
G |
7: 5,110,670 |
S165P |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,484,556 |
L1595Q |
probably damaging |
Het |
| Scp2 |
A |
T |
4: 108,071,350 |
V381D |
probably damaging |
Het |
| Sec24c |
G |
A |
14: 20,690,773 |
V620M |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,315,767 |
Y65H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,190,161 |
I841T |
probably benign |
Het |
| Spag7 |
C |
T |
11: 70,669,203 |
A27T |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,615,024 |
I181V |
possibly damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,247,933 |
M130V |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,479 |
S238F |
probably benign |
Het |
| Usp9y |
G |
A |
Y: 1,304,756 |
L2363F |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,637,139 |
H205L |
probably damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,694 |
Q59K |
probably benign |
Het |
| Zfp146 |
G |
A |
7: 30,162,422 |
T65I |
probably benign |
Het |
| Zfp36 |
T |
C |
7: 28,377,691 |
D264G |
probably benign |
Het |
|
|---|
| Other mutations in Zeb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Zeb2
|
APN |
2 |
44997275 |
missense |
probably damaging |
1.00 |
|
IGL01639:Zeb2
|
APN |
2 |
44997257 |
missense |
probably benign |
|
|
IGL02016:Zeb2
|
APN |
2 |
44988874 |
missense |
possibly damaging |
0.71 |
|
IGL02337:Zeb2
|
APN |
2 |
44997230 |
missense |
probably damaging |
0.96 |
|
IGL02745:Zeb2
|
APN |
2 |
44994475 |
unclassified |
probably benign |
|
|
IGL02893:Zeb2
|
APN |
2 |
44996607 |
missense |
probably benign |
0.03 |
|
IGL03412:Zeb2
|
APN |
2 |
45002708 |
intron |
probably benign |
|
|
Dropped
|
UTSW |
2 |
45110041 |
missense |
possibly damaging |
0.66 |
|
Okapi
|
UTSW |
2 |
44997156 |
missense |
probably damaging |
1.00 |
|
sable
|
UTSW |
2 |
44997318 |
missense |
probably damaging |
1.00 |
|
R0514:Zeb2
|
UTSW |
2 |
45002647 |
missense |
possibly damaging |
0.52 |
|
R0603:Zeb2
|
UTSW |
2 |
45017426 |
missense |
probably benign |
0.45 |
|
R0608:Zeb2
|
UTSW |
2 |
44996126 |
missense |
possibly damaging |
0.87 |
|
R1236:Zeb2
|
UTSW |
2 |
44994646 |
missense |
probably damaging |
1.00 |
|
R1529:Zeb2
|
UTSW |
2 |
44997194 |
missense |
probably damaging |
1.00 |
|
R1581:Zeb2
|
UTSW |
2 |
44997000 |
missense |
probably damaging |
0.99 |
|
R1636:Zeb2
|
UTSW |
2 |
45002611 |
missense |
probably damaging |
1.00 |
|
R1924:Zeb2
|
UTSW |
2 |
45002612 |
missense |
probably damaging |
1.00 |
|
R2012:Zeb2
|
UTSW |
2 |
44997950 |
missense |
probably damaging |
1.00 |
|
R2097:Zeb2
|
UTSW |
2 |
44997156 |
missense |
probably damaging |
1.00 |
|
R2156:Zeb2
|
UTSW |
2 |
44988809 |
missense |
probably benign |
0.20 |
|
R4472:Zeb2
|
UTSW |
2 |
45023011 |
missense |
probably damaging |
1.00 |
|
R4678:Zeb2
|
UTSW |
2 |
44996341 |
missense |
probably damaging |
0.99 |
|
R4769:Zeb2
|
UTSW |
2 |
44996435 |
missense |
probably damaging |
1.00 |
|
R4816:Zeb2
|
UTSW |
2 |
44997768 |
missense |
probably damaging |
0.99 |
|
R4918:Zeb2
|
UTSW |
2 |
44996882 |
missense |
probably damaging |
1.00 |
|
R4969:Zeb2
|
UTSW |
2 |
44998919 |
missense |
probably damaging |
1.00 |
|
R5191:Zeb2
|
UTSW |
2 |
45002600 |
missense |
probably benign |
0.00 |
|
R5195:Zeb2
|
UTSW |
2 |
45001635 |
missense |
probably damaging |
1.00 |
|
R5322:Zeb2
|
UTSW |
2 |
44997095 |
missense |
probably damaging |
1.00 |
|
R5699:Zeb2
|
UTSW |
2 |
44997788 |
missense |
probably damaging |
1.00 |
|
R5750:Zeb2
|
UTSW |
2 |
44997518 |
missense |
probably damaging |
0.96 |
|
R5764:Zeb2
|
UTSW |
2 |
44996919 |
missense |
possibly damaging |
0.89 |
|
R5914:Zeb2
|
UTSW |
2 |
44997052 |
missense |
probably benign |
0.00 |
|
R5918:Zeb2
|
UTSW |
2 |
45111259 |
intron |
probably benign |
|
|
R6037:Zeb2
|
UTSW |
2 |
44988640 |
nonsense |
probably null |
|
|
R6037:Zeb2
|
UTSW |
2 |
44988640 |
nonsense |
probably null |
|
|
R6302:Zeb2
|
UTSW |
2 |
44997759 |
missense |
probably benign |
0.18 |
|
R6372:Zeb2
|
UTSW |
2 |
45002539 |
missense |
probably damaging |
1.00 |
|
R6402:Zeb2
|
UTSW |
2 |
44996975 |
missense |
probably damaging |
1.00 |
|
R6492:Zeb2
|
UTSW |
2 |
45110496 |
intron |
probably benign |
|
|
R6554:Zeb2
|
UTSW |
2 |
44997512 |
missense |
probably damaging |
1.00 |
|
R6675:Zeb2
|
UTSW |
2 |
44997445 |
nonsense |
probably null |
|
|
R6735:Zeb2
|
UTSW |
2 |
45110016 |
missense |
probably null |
0.99 |
|
R6870:Zeb2
|
UTSW |
2 |
44988910 |
missense |
probably damaging |
0.98 |
|
R6925:Zeb2
|
UTSW |
2 |
44994529 |
missense |
probably damaging |
1.00 |
|
R6963:Zeb2
|
UTSW |
2 |
44988799 |
missense |
probably damaging |
0.97 |
|
R6972:Zeb2
|
UTSW |
2 |
44997318 |
missense |
probably damaging |
1.00 |
|
R7144:Zeb2
|
UTSW |
2 |
45110041 |
missense |
possibly damaging |
0.66 |
|
R7178:Zeb2
|
UTSW |
2 |
44996994 |
missense |
probably damaging |
0.97 |
|
R7379:Zeb2
|
UTSW |
2 |
45001817 |
splice site |
probably null |
|
|
R7419:Zeb2
|
UTSW |
2 |
44996347 |
missense |
probably benign |
0.20 |
|
R7580:Zeb2
|
UTSW |
2 |
44994532 |
missense |
probably damaging |
1.00 |
|
R7599:Zeb2
|
UTSW |
2 |
44994613 |
missense |
probably damaging |
1.00 |
|
R7625:Zeb2
|
UTSW |
2 |
45002572 |
missense |
probably damaging |
1.00 |
|
R7917:Zeb2
|
UTSW |
2 |
44996409 |
missense |
possibly damaging |
0.50 |
|
R8132:Zeb2
|
UTSW |
2 |
44989130 |
missense |
probably damaging |
1.00 |
|
R8412:Zeb2
|
UTSW |
2 |
44998952 |
missense |
probably damaging |
1.00 |
|
R8413:Zeb2
|
UTSW |
2 |
44996171 |
missense |
probably damaging |
0.99 |
|
R8417:Zeb2
|
UTSW |
2 |
45022996 |
missense |
probably damaging |
0.99 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAATCTCGCCACTGTG -3'
(R):5'- AAGCATGTGTACCTCTGTTACC -3'
Sequencing Primer
(F):5'- ACTGTGCCAGCTGTGCTC -3'
(R):5'- GCTATACATTGGGGATATTGATCATG -3'
|
|---|
| Posted On | 2015-07-06 |
|---|
