Incidental Mutation 'R6925:Zeb2'
| ID |
541056 |
| 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 |
| MMRRC Submission |
045043-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6925 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
44873644-45007407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44884541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 982
(K982M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201804]
|
| AlphaFold |
Q9R0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028229
AA Change: K1050M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: K1050M
| 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: K1006M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: K1006M
| 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: K1005M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: K1005M
| 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: K1006M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: K1006M
| 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: K1006M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: K1006M
| 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: K982M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: K982M
| 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 benign
Transcript: ENSMUST00000201804
|
| SMART Domains |
Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (91/91) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
A |
T |
9: 53,503,329 (GRCm39) |
V170E |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,681 (GRCm39) |
I902F |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,594 (GRCm39) |
V1697A |
probably benign |
Het |
| Ccdc14 |
T |
A |
16: 34,511,119 (GRCm39) |
F31Y |
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,455,407 (GRCm39) |
V250E |
probably damaging |
Het |
| Cct7 |
A |
G |
6: 85,436,164 (GRCm39) |
N25S |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,824,436 (GRCm39) |
Q177R |
possibly damaging |
Het |
| Cep19 |
G |
C |
16: 31,922,760 (GRCm39) |
G9R |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,249,685 (GRCm39) |
|
probably null |
Het |
| Chd1l |
T |
G |
3: 97,490,142 (GRCm39) |
E471A |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,855,047 (GRCm39) |
I787T |
probably damaging |
Het |
| Cntnap5c |
A |
C |
17: 58,702,261 (GRCm39) |
T1194P |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,743,724 (GRCm39) |
M208L |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,446,538 (GRCm39) |
|
probably null |
Het |
| Csrnp2 |
T |
C |
15: 100,379,839 (GRCm39) |
K484R |
probably benign |
Het |
| Cyp2c39 |
T |
A |
19: 39,501,639 (GRCm39) |
V64E |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,701 (GRCm39) |
K300E |
probably benign |
Het |
| Ddx56 |
T |
C |
11: 6,213,980 (GRCm39) |
E393G |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 37,986,732 (GRCm39) |
Y1084* |
probably null |
Het |
| Disp1 |
A |
T |
1: 182,868,042 (GRCm39) |
F1459L |
probably benign |
Het |
| Dnajc8 |
G |
A |
4: 132,271,424 (GRCm39) |
A80T |
probably damaging |
Het |
| Elfn1 |
T |
A |
5: 139,957,440 (GRCm39) |
M148K |
probably benign |
Het |
| Emcn |
T |
A |
3: 137,124,763 (GRCm39) |
I154N |
probably damaging |
Het |
| Enah |
T |
A |
1: 181,733,464 (GRCm39) |
|
probably null |
Het |
| Enah |
C |
G |
1: 181,733,463 (GRCm39) |
|
probably null |
Het |
| Ep300 |
C |
A |
15: 81,534,182 (GRCm39) |
Q2080K |
probably benign |
Het |
| Epha2 |
T |
A |
4: 141,036,068 (GRCm39) |
M168K |
probably benign |
Het |
| Ercc6 |
T |
A |
14: 32,284,565 (GRCm39) |
I776N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat4 |
G |
T |
3: 39,050,353 (GRCm39) |
|
probably null |
Het |
| G3bp1 |
A |
G |
11: 55,388,786 (GRCm39) |
R333G |
possibly damaging |
Het |
| Gm3604 |
A |
G |
13: 62,517,204 (GRCm39) |
F385L |
probably benign |
Het |
| Gm5800 |
T |
C |
14: 51,951,157 (GRCm39) |
I147M |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,685,561 (GRCm39) |
F18S |
unknown |
Het |
| Ighv3-8 |
A |
T |
12: 114,285,950 (GRCm39) |
C131S |
probably benign |
Het |
| Il23r |
T |
G |
6: 67,400,477 (GRCm39) |
T618P |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,664,063 (GRCm39) |
T538I |
possibly damaging |
Het |
| Kcns2 |
A |
G |
15: 34,840,059 (GRCm39) |
D474G |
unknown |
Het |
| Klc4 |
T |
C |
17: 46,947,155 (GRCm39) |
T407A |
possibly damaging |
Het |
| Klra5 |
C |
T |
6: 129,888,420 (GRCm39) |
S2N |
probably benign |
Het |
| Krt10 |
T |
C |
11: 99,279,677 (GRCm39) |
Y161C |
probably damaging |
Het |
| Kxd1 |
A |
T |
8: 70,975,928 (GRCm39) |
M1K |
probably null |
Het |
| Lgals1 |
A |
C |
15: 78,812,240 (GRCm39) |
D27A |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,302,251 (GRCm39) |
S308G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,392,857 (GRCm39) |
S2736L |
probably benign |
Het |
| Lrpap1 |
G |
T |
5: 35,259,880 (GRCm39) |
H73N |
probably benign |
Het |
| Mcpt1 |
C |
A |
14: 56,256,522 (GRCm39) |
T86K |
probably damaging |
Het |
| Megf6 |
A |
T |
4: 154,339,044 (GRCm39) |
D527V |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 120,936,351 (GRCm39) |
S1392T |
probably benign |
Het |
| Mmp2 |
A |
T |
8: 93,566,010 (GRCm39) |
D437V |
probably damaging |
Het |
| Mob4 |
T |
A |
1: 55,191,881 (GRCm39) |
Y166* |
probably null |
Het |
| Mrap2 |
G |
A |
9: 87,064,527 (GRCm39) |
M89I |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,858,746 (GRCm39) |
A1155T |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,084,044 (GRCm39) |
A1556S |
probably benign |
Het |
| Nfatc3 |
A |
G |
8: 106,845,954 (GRCm39) |
D1028G |
probably benign |
Het |
| Ngef |
T |
G |
1: 87,430,985 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
A |
T |
11: 70,983,339 (GRCm39) |
L1209Q |
probably null |
Het |
| Npr2 |
C |
T |
4: 43,647,553 (GRCm39) |
R819C |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,036,454 (GRCm39) |
D646V |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,434,415 (GRCm39) |
H252R |
probably damaging |
Het |
| Or2a25 |
T |
A |
6: 42,888,791 (GRCm39) |
C111* |
probably null |
Het |
| Or2k2 |
A |
T |
4: 58,785,647 (GRCm39) |
I25N |
possibly damaging |
Het |
| Or51a10 |
C |
T |
7: 103,698,947 (GRCm39) |
V205I |
probably benign |
Het |
| Or8g32 |
A |
T |
9: 39,305,156 (GRCm39) |
Q20L |
probably benign |
Het |
| Or8g32 |
G |
T |
9: 39,305,157 (GRCm39) |
Q20H |
probably benign |
Het |
| Pcdhga2 |
A |
T |
18: 37,803,638 (GRCm39) |
D494V |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,655,667 (GRCm39) |
E617G |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,208,931 (GRCm39) |
I138T |
probably damaging |
Het |
| Phc2 |
T |
A |
4: 128,641,927 (GRCm39) |
S750T |
probably damaging |
Het |
| Pkd2l1 |
T |
A |
19: 44,179,947 (GRCm39) |
N88Y |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,445,757 (GRCm39) |
R71* |
probably null |
Het |
| Prag1 |
C |
A |
8: 36,571,048 (GRCm39) |
L544M |
probably damaging |
Het |
| Prkg2 |
A |
G |
5: 99,114,369 (GRCm39) |
|
probably null |
Het |
| Psd2 |
G |
A |
18: 36,112,764 (GRCm39) |
S153N |
probably damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,643,000 (GRCm39) |
S600T |
probably damaging |
Het |
| Rbms1 |
T |
G |
2: 60,592,648 (GRCm39) |
T222P |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,904,243 (GRCm39) |
Y382* |
probably null |
Het |
| Socs4 |
T |
A |
14: 47,527,195 (GRCm39) |
C43* |
probably null |
Het |
| Sorl1 |
T |
A |
9: 41,944,922 (GRCm39) |
T868S |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,174,963 (GRCm39) |
Y267C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,076,682 (GRCm39) |
V6879A |
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,900,906 (GRCm39) |
H22N |
possibly damaging |
Het |
| Tmeff2 |
T |
A |
1: 50,967,180 (GRCm39) |
L25Q |
probably damaging |
Het |
| Tmprss11g |
G |
T |
5: 86,635,285 (GRCm39) |
D396E |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,635,295 (GRCm39) |
H393L |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,512 (GRCm39) |
E140G |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,399,320 (GRCm39) |
S130P |
probably benign |
Het |
| Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
| Zfp719 |
T |
C |
7: 43,240,130 (GRCm39) |
S573P |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,999 (GRCm39) |
C237S |
possibly damaging |
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 |
|
R1529:Zeb2
|
UTSW |
2 |
44,887,206 (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 |
|
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'- ACACAAAAGTCCTACTGAGTTATGC -3'
(R):5'- GATCTCTAGTTGTCAGCCTATGC -3'
Sequencing Primer
(F):5'- AAAGTCCTACTGAGTTATGCAAAAG -3'
(R):5'- TTTGATGTAAACACAAAGAGGAGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation