Incidental Mutation 'R2012:Zeb2'
| ID |
219857 |
| 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 |
040021-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2012 (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 G
at 44887962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 350
(H350P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201804]
[ENSMUST00000201969]
[ENSMUST00000201211]
[ENSMUST00000201623]
|
| AlphaFold |
Q9R0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028229
AA Change: H365P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: H365P
| 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: H321P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: H321P
| 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: H320P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: H320P
| 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: H321P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: H321P
| 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: H321P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: H321P
| 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: H297P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: H297P
| 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: H350P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: H350P
| 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: ENSMUST00000201413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201969
|
| SMART Domains |
Protein: ENSMUSP00000144141
Gene: ENSMUSG00000026872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202432
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| 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: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,167,634 (GRCm39) |
S675R |
probably damaging |
Het |
| Akap5 |
A |
T |
12: 76,376,122 (GRCm39) |
H518L |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,177,391 (GRCm39) |
Y202F |
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,637,427 (GRCm39) |
L412F |
possibly damaging |
Het |
| B4galt3 |
C |
T |
1: 171,100,118 (GRCm39) |
P121L |
probably damaging |
Het |
| BC034090 |
C |
T |
1: 155,097,178 (GRCm39) |
R640Q |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,761,900 (GRCm39) |
Y128N |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,372,222 (GRCm39) |
E173G |
probably damaging |
Het |
| C1qtnf1 |
T |
A |
11: 118,339,110 (GRCm39) |
F260Y |
probably benign |
Het |
| Ccdc14 |
G |
T |
16: 34,511,092 (GRCm39) |
G22V |
possibly damaging |
Het |
| Ccnc |
A |
T |
4: 21,741,955 (GRCm39) |
I135L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,239,878 (GRCm39) |
D1650G |
probably benign |
Het |
| Cherp |
A |
C |
8: 73,228,613 (GRCm39) |
N14K |
probably damaging |
Het |
| Clint1 |
C |
T |
11: 45,784,919 (GRCm39) |
T306I |
possibly damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,335,315 (GRCm39) |
Y85N |
probably damaging |
Het |
| D830013O20Rik |
A |
G |
12: 73,418,162 (GRCm39) |
|
noncoding transcript |
Het |
| Dapk1 |
A |
T |
13: 60,869,671 (GRCm39) |
K304N |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,044,449 (GRCm39) |
N3169Y |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,169,589 (GRCm39) |
I296K |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,764,515 (GRCm39) |
T621S |
probably benign |
Het |
| Eml6 |
G |
T |
11: 29,781,128 (GRCm39) |
Q635K |
possibly damaging |
Het |
| Exph5 |
G |
A |
9: 53,278,466 (GRCm39) |
M192I |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,518,266 (GRCm39) |
V523M |
probably damaging |
Het |
| Ggn |
A |
T |
7: 28,873,188 (GRCm39) |
|
probably null |
Het |
| Gimap8 |
A |
G |
6: 48,633,287 (GRCm39) |
T369A |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,724,080 (GRCm39) |
I790T |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,252,790 (GRCm39) |
A354V |
probably damaging |
Het |
| Habp4 |
G |
A |
13: 64,317,995 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,531,264 (GRCm39) |
W484R |
probably damaging |
Het |
| Herc4 |
G |
T |
10: 63,079,817 (GRCm39) |
|
probably benign |
Het |
| Igf2 |
C |
A |
7: 142,208,136 (GRCm39) |
E106D |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,718,797 (GRCm39) |
C428* |
probably null |
Het |
| Ipo11 |
A |
T |
13: 107,056,130 (GRCm39) |
N47K |
probably benign |
Het |
| Itga4 |
T |
G |
2: 79,108,138 (GRCm39) |
S197A |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,417,497 (GRCm39) |
M1788K |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,919 (GRCm39) |
T431I |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,075,044 (GRCm39) |
V523E |
probably benign |
Het |
| Klhl41 |
A |
T |
2: 69,513,840 (GRCm39) |
D573V |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,196 (GRCm39) |
H828Q |
possibly damaging |
Het |
| Leng8 |
T |
A |
7: 4,146,609 (GRCm39) |
V407D |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,288,215 (GRCm39) |
E608K |
probably benign |
Het |
| Mcf2 |
T |
A |
X: 59,122,574 (GRCm39) |
R850S |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,576,831 (GRCm39) |
N618S |
probably benign |
Het |
| Morn5 |
A |
T |
2: 35,942,950 (GRCm39) |
M17L |
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,881,053 (GRCm39) |
N26S |
probably damaging |
Het |
| Nostrin |
C |
A |
2: 68,975,111 (GRCm39) |
|
probably null |
Het |
| Npy4r |
T |
A |
14: 33,869,154 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or13a21 |
T |
A |
7: 139,999,024 (GRCm39) |
I221F |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,311,931 (GRCm39) |
I174V |
probably benign |
Het |
| Or2aj5 |
C |
T |
16: 19,424,881 (GRCm39) |
C179Y |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,659 (GRCm39) |
M238K |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,214 (GRCm39) |
Y259C |
possibly damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,342 (GRCm39) |
F105L |
probably benign |
Het |
| Or5d36 |
A |
G |
2: 87,901,063 (GRCm39) |
V221A |
probably benign |
Het |
| Oxt |
A |
G |
2: 130,418,572 (GRCm39) |
D61G |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,917,181 (GRCm39) |
L676P |
probably damaging |
Het |
| Pcdhb20 |
G |
A |
18: 37,638,127 (GRCm39) |
G218R |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,194,566 (GRCm39) |
S114R |
probably benign |
Het |
| Pfdn5 |
A |
G |
15: 102,234,956 (GRCm39) |
N54S |
possibly damaging |
Het |
| Phldb1 |
G |
T |
9: 44,639,333 (GRCm39) |
T15N |
possibly damaging |
Het |
| Pink1 |
A |
C |
4: 138,045,316 (GRCm39) |
S253A |
probably null |
Het |
| Plag1 |
A |
T |
4: 3,904,870 (GRCm39) |
L107Q |
probably damaging |
Het |
| Pld5 |
C |
A |
1: 175,791,579 (GRCm39) |
V476L |
probably benign |
Het |
| Pramel28 |
A |
T |
4: 143,692,637 (GRCm39) |
D121E |
probably benign |
Het |
| Prrt2 |
C |
T |
7: 126,618,581 (GRCm39) |
A295T |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,668 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,001,026 (GRCm39) |
T1039A |
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,847,859 (GRCm39) |
C1135Y |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,787,923 (GRCm39) |
N465K |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,872 (GRCm39) |
S510G |
probably benign |
Het |
| Satb1 |
G |
A |
17: 52,089,816 (GRCm39) |
Q344* |
probably null |
Het |
| Sdr16c5 |
A |
G |
4: 3,996,244 (GRCm39) |
I283T |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,199,574 (GRCm39) |
S316G |
possibly damaging |
Het |
| Siglec1 |
A |
T |
2: 130,925,277 (GRCm39) |
Y395N |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,651,701 (GRCm39) |
I5V |
probably benign |
Het |
| Slc27a2 |
T |
C |
2: 126,395,535 (GRCm39) |
V154A |
probably damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,731,634 (GRCm39) |
L119S |
probably damaging |
Het |
| Slc35g2 |
T |
A |
9: 100,435,120 (GRCm39) |
T184S |
possibly damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,733,727 (GRCm38) |
R46* |
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,983,201 (GRCm39) |
L504* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,850,370 (GRCm39) |
I586T |
possibly damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,041 (GRCm39) |
E194D |
possibly damaging |
Het |
| Spats2 |
A |
G |
15: 99,076,375 (GRCm39) |
E151G |
probably damaging |
Het |
| Sugp2 |
T |
A |
8: 70,695,861 (GRCm39) |
L278Q |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,207,322 (GRCm39) |
|
probably benign |
Het |
| Syde2 |
G |
T |
3: 145,694,163 (GRCm39) |
G137V |
possibly damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,584 (GRCm39) |
F1456L |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,220,862 (GRCm39) |
|
probably benign |
Het |
| Timd4 |
C |
A |
11: 46,710,857 (GRCm39) |
T253K |
possibly damaging |
Het |
| Tlr3 |
G |
T |
8: 45,855,823 (GRCm39) |
T119N |
possibly damaging |
Het |
| Tmc6 |
A |
G |
11: 117,660,232 (GRCm39) |
Y669H |
probably damaging |
Het |
| Tmem221 |
T |
C |
8: 72,008,458 (GRCm39) |
E194G |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,807,167 (GRCm39) |
V9F |
probably benign |
Het |
| Tpm1 |
G |
A |
9: 66,941,247 (GRCm39) |
Q135* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,665,917 (GRCm39) |
Y896* |
probably null |
Het |
| Tuba4a |
A |
T |
1: 75,192,983 (GRCm39) |
Y210* |
probably null |
Het |
| Tut7 |
A |
G |
13: 59,959,352 (GRCm39) |
V372A |
probably damaging |
Het |
| Vegfa |
T |
G |
17: 46,336,284 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,804 (GRCm39) |
T593S |
probably damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,536,840 (GRCm39) |
I508V |
probably benign |
Het |
| Vps33a |
G |
T |
5: 123,669,244 (GRCm39) |
|
probably null |
Het |
| Wasl |
T |
A |
6: 24,624,360 (GRCm39) |
N231I |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,578,703 (GRCm39) |
N426D |
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,824,725 (GRCm39) |
F231S |
possibly damaging |
Het |
| Zfp180 |
T |
C |
7: 23,803,943 (GRCm39) |
S121P |
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 |
|
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 |
|
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'- CCACTAAACCCATGTGTTGC -3'
(R):5'- TGTAGAGTCCACCTACATTCGAC -3'
Sequencing Primer
(F):5'- AAGTAAGCCTGTCTGCTCAG -3'
(R):5'- GAGTCCACCTACATTCGACACCTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation