Incidental Mutation 'R1529:Zeb2'
| ID |
166426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zeb2
|
| Ensembl Gene |
ENSMUSG00000026872 |
| Gene Name |
zinc finger E-box binding homeobox 2 |
| Synonyms |
SIP1, D130016B08Rik, 9130203F04Rik, Zfhx1b, Zfx1b |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
44873644-45007407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44887206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 572
(E572G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201804]
[ENSMUST00000201211]
[ENSMUST00000201623]
|
| AlphaFold |
Q9R0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028229
AA Change: E617G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: E617G
| 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: ENSMUST00000068415
AA Change: E573G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: E573G
| 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: ENSMUST00000076836
AA Change: E572G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: E572G
| 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 |
probably damaging
Transcript: ENSMUST00000176438
AA Change: E573G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: E573G
| 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 benign
Transcript: ENSMUST00000176732
|
| SMART Domains |
Protein: ENSMUSP00000135393
Gene: ENSMUSG00000026872
| 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 |
probably damaging
Transcript: ENSMUST00000177302
AA Change: E573G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: E573G
| 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: ENSMUST00000200844
AA Change: E549G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: E549G
| 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: ENSMUST00000201804
AA Change: E602G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: E602G
| 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 |
noncoding transcript
Transcript: ENSMUST00000209076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201211
|
| SMART Domains |
Protein: ENSMUSP00000144406
Gene: ENSMUSG00000026872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201623
|
| SMART Domains |
Protein: ENSMUSP00000144075
Gene: ENSMUSG00000026872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
187 |
210 |
9.2e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,768,533 (GRCm39) |
I21T |
probably benign |
Het |
| Adam11 |
T |
C |
11: 102,665,939 (GRCm39) |
|
probably null |
Het |
| Amd1 |
A |
T |
10: 40,166,501 (GRCm39) |
M194K |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,989,547 (GRCm39) |
F793C |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,488,970 (GRCm39) |
R1292* |
probably null |
Het |
| Arhgef5 |
C |
A |
6: 43,256,449 (GRCm39) |
H1186N |
probably damaging |
Het |
| Atad1 |
A |
G |
19: 32,684,321 (GRCm39) |
F26L |
probably benign |
Het |
| Atg2b |
C |
T |
12: 105,627,392 (GRCm39) |
V532I |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,645,726 (GRCm39) |
F943L |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,740 (GRCm39) |
L21F |
possibly damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,592,241 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cimip3 |
G |
A |
17: 47,724,815 (GRCm39) |
S102L |
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,320 (GRCm39) |
D202E |
probably benign |
Het |
| Crim1 |
A |
C |
17: 78,675,383 (GRCm39) |
K864T |
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,887,267 (GRCm39) |
R765G |
possibly damaging |
Het |
| Ddx10 |
T |
A |
9: 53,028,499 (GRCm39) |
R802* |
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,216,441 (GRCm39) |
F1152L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,415,080 (GRCm39) |
L659P |
probably damaging |
Het |
| Dzank1 |
A |
G |
2: 144,324,108 (GRCm39) |
F577L |
probably benign |
Het |
| Eci3 |
T |
C |
13: 35,140,903 (GRCm39) |
D93G |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,832,701 (GRCm39) |
|
probably null |
Het |
| Ep400 |
C |
A |
5: 110,887,311 (GRCm39) |
V591L |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,420,170 (GRCm39) |
N569S |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,426,631 (GRCm39) |
V229E |
probably damaging |
Het |
| Gna15 |
T |
A |
10: 81,345,176 (GRCm39) |
I230F |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,031,250 (GRCm39) |
V281A |
probably benign |
Het |
| Hebp2 |
G |
A |
10: 18,421,509 (GRCm39) |
A12V |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,000,989 (GRCm39) |
D1254G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,776,564 (GRCm39) |
S459A |
probably benign |
Het |
| Hnrnpl |
T |
A |
7: 28,513,348 (GRCm39) |
N149K |
possibly damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,635 (GRCm39) |
S115C |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,578,766 (GRCm39) |
D261E |
probably benign |
Het |
| Ifnab |
T |
C |
4: 88,609,292 (GRCm39) |
D58G |
possibly damaging |
Het |
| Itfg1 |
T |
C |
8: 86,537,243 (GRCm39) |
T195A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,324,459 (GRCm39) |
|
probably null |
Het |
| Iws1 |
A |
G |
18: 32,213,334 (GRCm39) |
D254G |
probably benign |
Het |
| Kl |
C |
A |
5: 150,912,406 (GRCm39) |
D718E |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,790,784 (GRCm39) |
I154M |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,353,526 (GRCm39) |
D578G |
probably damaging |
Het |
| Lss |
T |
G |
10: 76,372,123 (GRCm39) |
Y159* |
probably null |
Het |
| Mab21l1 |
C |
A |
3: 55,691,254 (GRCm39) |
Y280* |
probably null |
Het |
| Maf |
A |
T |
8: 116,419,909 (GRCm39) |
S378T |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,287,716 (GRCm39) |
V59I |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,902,895 (GRCm39) |
|
probably benign |
Het |
| Nova2 |
A |
T |
7: 18,691,479 (GRCm39) |
N139Y |
probably damaging |
Het |
| Nup210 |
C |
A |
6: 91,013,358 (GRCm39) |
D434Y |
probably damaging |
Het |
| Nvl |
C |
T |
1: 180,936,724 (GRCm39) |
|
probably null |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or51g2 |
A |
G |
7: 102,623,086 (GRCm39) |
Y38H |
probably damaging |
Het |
| Or56b1 |
A |
G |
7: 104,285,696 (GRCm39) |
T272A |
probably benign |
Het |
| Or8k18 |
A |
T |
2: 86,085,585 (GRCm39) |
Y151N |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,677 (GRCm39) |
V214A |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,094,871 (GRCm39) |
Y255C |
probably damaging |
Het |
| Pcyt1a |
G |
A |
16: 32,270,611 (GRCm39) |
E27K |
possibly damaging |
Het |
| Pex6 |
A |
T |
17: 47,024,990 (GRCm39) |
T348S |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,681,597 (GRCm39) |
I251T |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,563,755 (GRCm39) |
I490T |
probably damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,672,534 (GRCm39) |
L56Q |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,760,971 (GRCm39) |
T434A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,711,998 (GRCm39) |
N1632S |
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,711 (GRCm39) |
V151M |
probably damaging |
Het |
| Rpain |
G |
C |
11: 70,865,741 (GRCm39) |
E169Q |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,227 (GRCm39) |
V124D |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc12a1 |
C |
T |
2: 125,032,215 (GRCm39) |
T622I |
probably damaging |
Het |
| Slc17a3 |
T |
A |
13: 24,029,428 (GRCm39) |
V67D |
probably damaging |
Het |
| Slc41a3 |
G |
T |
6: 90,621,198 (GRCm39) |
V387L |
probably damaging |
Het |
| Slitrk1 |
T |
A |
14: 109,150,709 (GRCm39) |
M1L |
probably benign |
Het |
| Stat4 |
T |
C |
1: 52,050,952 (GRCm39) |
W4R |
probably damaging |
Het |
| Tas2r126 |
A |
G |
6: 42,411,502 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,953 (GRCm39) |
C64R |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,606,440 (GRCm39) |
S505G |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,566,978 (GRCm39) |
V1506A |
probably benign |
Het |
| Tmem9b |
A |
C |
7: 109,336,156 (GRCm39) |
S163A |
probably benign |
Het |
| Tmtc2 |
G |
A |
10: 105,139,519 (GRCm39) |
S669L |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,560,220 (GRCm39) |
I641K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,565,711 (GRCm39) |
A28214T |
probably damaging |
Het |
| Utp11 |
G |
A |
4: 124,577,032 (GRCm39) |
A113V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,902 (GRCm39) |
I66N |
probably benign |
Het |
|
| Other mutations in Zeb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Zeb2
|
APN |
2 |
44,887,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01639:Zeb2
|
APN |
2 |
44,887,269 (GRCm39) |
missense |
probably benign |
|
|
IGL02016:Zeb2
|
APN |
2 |
44,878,886 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02337:Zeb2
|
APN |
2 |
44,887,242 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02745:Zeb2
|
APN |
2 |
44,884,487 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02893:Zeb2
|
APN |
2 |
44,886,619 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03412:Zeb2
|
APN |
2 |
44,892,720 (GRCm39) |
intron |
probably benign |
|
|
Blight
|
UTSW |
2 |
45,000,040 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Dropped
|
UTSW |
2 |
45,000,053 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Okapi
|
UTSW |
2 |
44,887,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sable
|
UTSW |
2 |
44,887,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Zeb2
|
UTSW |
2 |
44,892,659 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0603:Zeb2
|
UTSW |
2 |
44,907,438 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0608:Zeb2
|
UTSW |
2 |
44,886,138 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1236:Zeb2
|
UTSW |
2 |
44,884,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Zeb2
|
UTSW |
2 |
44,887,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1636:Zeb2
|
UTSW |
2 |
44,892,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Zeb2
|
UTSW |
2 |
44,892,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Zeb2
|
UTSW |
2 |
44,887,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Zeb2
|
UTSW |
2 |
44,887,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Zeb2
|
UTSW |
2 |
44,878,821 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4385:Zeb2
|
UTSW |
2 |
44,913,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4472:Zeb2
|
UTSW |
2 |
44,913,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Zeb2
|
UTSW |
2 |
44,886,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4769:Zeb2
|
UTSW |
2 |
44,886,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Zeb2
|
UTSW |
2 |
44,887,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4918:Zeb2
|
UTSW |
2 |
44,886,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Zeb2
|
UTSW |
2 |
44,888,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Zeb2
|
UTSW |
2 |
44,892,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5195:Zeb2
|
UTSW |
2 |
44,891,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Zeb2
|
UTSW |
2 |
44,887,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Zeb2
|
UTSW |
2 |
44,887,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Zeb2
|
UTSW |
2 |
44,887,530 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5764:Zeb2
|
UTSW |
2 |
44,886,931 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5914:Zeb2
|
UTSW |
2 |
44,887,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5918:Zeb2
|
UTSW |
2 |
45,001,271 (GRCm39) |
intron |
probably benign |
|
|
R6037:Zeb2
|
UTSW |
2 |
44,878,652 (GRCm39) |
nonsense |
probably null |
|
|
R6037:Zeb2
|
UTSW |
2 |
44,878,652 (GRCm39) |
nonsense |
probably null |
|
|
R6302:Zeb2
|
UTSW |
2 |
44,887,771 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6372:Zeb2
|
UTSW |
2 |
44,892,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6402:Zeb2
|
UTSW |
2 |
44,886,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Zeb2
|
UTSW |
2 |
45,000,508 (GRCm39) |
intron |
probably benign |
|
|
R6554:Zeb2
|
UTSW |
2 |
44,887,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Zeb2
|
UTSW |
2 |
44,887,457 (GRCm39) |
nonsense |
probably null |
|
|
R6735:Zeb2
|
UTSW |
2 |
45,000,028 (GRCm39) |
missense |
probably null |
0.99 |
|
R6870:Zeb2
|
UTSW |
2 |
44,878,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6925:Zeb2
|
UTSW |
2 |
44,884,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Zeb2
|
UTSW |
2 |
44,878,811 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6972:Zeb2
|
UTSW |
2 |
44,887,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Zeb2
|
UTSW |
2 |
45,000,053 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7178:Zeb2
|
UTSW |
2 |
44,887,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7379:Zeb2
|
UTSW |
2 |
44,891,829 (GRCm39) |
splice site |
probably null |
|
|
R7419:Zeb2
|
UTSW |
2 |
44,886,359 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7580:Zeb2
|
UTSW |
2 |
44,884,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Zeb2
|
UTSW |
2 |
44,884,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7625:Zeb2
|
UTSW |
2 |
44,892,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Zeb2
|
UTSW |
2 |
44,886,421 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8132:Zeb2
|
UTSW |
2 |
44,879,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Zeb2
|
UTSW |
2 |
44,888,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Zeb2
|
UTSW |
2 |
44,886,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8417:Zeb2
|
UTSW |
2 |
44,913,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8750:Zeb2
|
UTSW |
2 |
44,887,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Zeb2
|
UTSW |
2 |
44,886,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8916:Zeb2
|
UTSW |
2 |
44,886,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9068:Zeb2
|
UTSW |
2 |
45,000,040 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9094:Zeb2
|
UTSW |
2 |
45,003,136 (GRCm39) |
intron |
probably benign |
|
|
R9139:Zeb2
|
UTSW |
2 |
44,878,637 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9187:Zeb2
|
UTSW |
2 |
45,000,040 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9309:Zeb2
|
UTSW |
2 |
44,892,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9310:Zeb2
|
UTSW |
2 |
44,886,988 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9337:Zeb2
|
UTSW |
2 |
44,912,912 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9350:Zeb2
|
UTSW |
2 |
44,887,158 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9371:Zeb2
|
UTSW |
2 |
44,888,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Zeb2
|
UTSW |
2 |
44,887,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Zeb2
|
UTSW |
2 |
44,887,876 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9600:Zeb2
|
UTSW |
2 |
44,987,180 (GRCm39) |
missense |
unknown |
|
|
R9674:Zeb2
|
UTSW |
2 |
44,891,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Zeb2
|
UTSW |
2 |
44,887,414 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTTCAGTACAGACATGTGGTCC -3'
(R):5'- GCTCAGAGTCCAATGCAGCACTTAG -3'
Sequencing Primer
(F):5'- CAGTCCTTTCTCGGAAAGTACAG -3'
(R):5'- CGGTCTTCCAGTAGTGAGTCATAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation