Incidental Mutation 'R0514:Zeb2'
| ID |
48075 |
| 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 |
038708-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0514 (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 44892659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 130
(E130G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201211]
[ENSMUST00000201804]
[ENSMUST00000201623]
[ENSMUST00000201969]
|
| AlphaFold |
Q9R0G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028229
AA Change: E198G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: E198G
| 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: ENSMUST00000068415
AA Change: E154G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: E154G
| 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: ENSMUST00000076836
AA Change: E153G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: E153G
| 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 benign
Transcript: ENSMUST00000176438
AA Change: E154G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: E154G
| 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 benign
Transcript: ENSMUST00000177302
AA Change: E154G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: E154G
| 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: ENSMUST00000200844
AA Change: E130G
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: E130G
| 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 |
possibly damaging
Transcript: ENSMUST00000201211
AA Change: E130G
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144406
Gene: ENSMUSG00000026872
AA Change: E130G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201804
AA Change: E183G
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: E183G
| 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 benign
Transcript: ENSMUST00000201623
AA Change: E130G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000144075
Gene: ENSMUSG00000026872
AA Change: E130G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
187 |
210 |
9.2e-6 |
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: ENSMUST00000202432
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,197,177 (GRCm39) |
Y154F |
probably damaging |
Het |
| Acsl6 |
A |
T |
11: 54,241,406 (GRCm39) |
D579V |
probably damaging |
Het |
| Adamts18 |
C |
T |
8: 114,465,401 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,168,257 (GRCm39) |
V1882D |
probably damaging |
Het |
| Add3 |
A |
T |
19: 53,225,274 (GRCm39) |
K465* |
probably null |
Het |
| Ago1 |
T |
G |
4: 126,333,388 (GRCm39) |
I524L |
probably benign |
Het |
| Akr1c18 |
A |
G |
13: 4,187,190 (GRCm39) |
M208T |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,474,575 (GRCm39) |
L1413F |
probably damaging |
Het |
| Arid4b |
A |
T |
13: 14,358,902 (GRCm39) |
D646V |
probably damaging |
Het |
| Arnt2 |
T |
C |
7: 83,954,067 (GRCm39) |
E261G |
probably benign |
Het |
| Bccip |
C |
T |
7: 133,320,859 (GRCm39) |
T211I |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 108,002,981 (GRCm39) |
S475G |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,108,621 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
A |
G |
7: 25,220,356 (GRCm39) |
F414S |
probably benign |
Het |
| Cep43 |
A |
G |
17: 8,410,266 (GRCm39) |
N342S |
possibly damaging |
Het |
| Cfb |
T |
C |
17: 35,079,874 (GRCm39) |
R172G |
probably damaging |
Het |
| Cntnap5b |
A |
C |
1: 99,700,511 (GRCm39) |
T8P |
probably benign |
Het |
| Cpne9 |
A |
T |
6: 113,266,974 (GRCm39) |
I136L |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,855,079 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,303,369 (GRCm39) |
H300L |
probably benign |
Het |
| Dhdh |
C |
T |
7: 45,138,130 (GRCm39) |
V20M |
probably benign |
Het |
| Dhx34 |
T |
C |
7: 15,944,462 (GRCm39) |
Q584R |
probably benign |
Het |
| Dis3l2 |
A |
G |
1: 86,974,814 (GRCm39) |
Y701C |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,653,019 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,366,467 (GRCm39) |
T2727A |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,402,787 (GRCm39) |
E1329G |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,114,117 (GRCm39) |
V1191A |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,250 (GRCm39) |
D177G |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,807,418 (GRCm39) |
T521A |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,547,126 (GRCm39) |
T662A |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,453,735 (GRCm39) |
|
probably null |
Het |
| Il13 |
T |
C |
11: 53,523,345 (GRCm39) |
R87G |
possibly damaging |
Het |
| Kcnc3 |
T |
A |
7: 44,245,352 (GRCm39) |
Y547* |
probably null |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,071,693 (GRCm39) |
G860D |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,124,609 (GRCm39) |
L356P |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,133,995 (GRCm39) |
K447I |
probably damaging |
Het |
| Lrp2bp |
A |
G |
8: 46,464,995 (GRCm39) |
H38R |
probably damaging |
Het |
| Magi3 |
G |
A |
3: 103,922,338 (GRCm39) |
P1460S |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,063,728 (GRCm39) |
C2695S |
possibly damaging |
Het |
| Mrgprb2 |
T |
G |
7: 48,201,718 (GRCm39) |
S336R |
probably benign |
Het |
| Mrgprx2 |
C |
T |
7: 48,132,712 (GRCm39) |
M1I |
probably null |
Het |
| Mug2 |
T |
C |
6: 122,058,558 (GRCm39) |
L1320P |
probably damaging |
Het |
| Noxred1 |
A |
G |
12: 87,273,838 (GRCm39) |
S68P |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,424,539 (GRCm39) |
H269Q |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,879 (GRCm39) |
Y41F |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,955,508 (GRCm39) |
C123Y |
probably damaging |
Het |
| Ostf1 |
T |
A |
19: 18,573,723 (GRCm39) |
T42S |
probably benign |
Het |
| Parg |
C |
A |
14: 31,976,517 (GRCm39) |
T186K |
possibly damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,041,884 (GRCm39) |
M2172K |
probably benign |
Het |
| Pip4k2a |
A |
G |
2: 18,850,747 (GRCm39) |
I360T |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,516,219 (GRCm39) |
D568G |
possibly damaging |
Het |
| Plch2 |
A |
G |
4: 155,083,343 (GRCm39) |
S431P |
probably damaging |
Het |
| Prl8a6 |
A |
T |
13: 27,616,990 (GRCm39) |
C233* |
probably null |
Het |
| Prox1 |
G |
A |
1: 189,893,653 (GRCm39) |
T264I |
probably damaging |
Het |
| Prr5 |
A |
G |
15: 84,586,967 (GRCm39) |
N248S |
probably benign |
Het |
| Psip1 |
A |
C |
4: 83,378,274 (GRCm39) |
S407R |
probably damaging |
Het |
| Rab32 |
A |
T |
10: 10,426,640 (GRCm39) |
V102E |
probably damaging |
Het |
| Rap1gap2 |
T |
G |
11: 74,279,680 (GRCm39) |
K687Q |
possibly damaging |
Het |
| Rbak |
A |
T |
5: 143,159,169 (GRCm39) |
V628E |
probably damaging |
Het |
| Rnf148 |
T |
C |
6: 23,654,792 (GRCm39) |
E68G |
possibly damaging |
Het |
| Rnf212 |
A |
T |
5: 108,897,308 (GRCm39) |
S3T |
probably damaging |
Het |
| Rrad |
T |
G |
8: 105,355,259 (GRCm39) |
I250L |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,625 (GRCm39) |
H405R |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,022 (GRCm39) |
R1888G |
probably damaging |
Het |
| Setd5 |
G |
T |
6: 113,096,398 (GRCm39) |
E535* |
probably null |
Het |
| Slc20a1 |
C |
T |
2: 129,041,811 (GRCm39) |
S58L |
probably damaging |
Het |
| Slc31a1 |
A |
G |
4: 62,303,841 (GRCm39) |
|
probably benign |
Het |
| Slc38a11 |
G |
T |
2: 65,147,209 (GRCm39) |
Q423K |
probably benign |
Het |
| Snrpd1 |
A |
T |
18: 10,626,846 (GRCm39) |
T38S |
possibly damaging |
Het |
| Taar4 |
A |
G |
10: 23,836,780 (GRCm39) |
D130G |
probably damaging |
Het |
| Tfb2m |
C |
T |
1: 179,358,869 (GRCm39) |
R338H |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,512,742 (GRCm39) |
I197V |
possibly damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,355 (GRCm39) |
G725D |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,089,317 (GRCm39) |
T38A |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,765,155 (GRCm39) |
S816T |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,754,717 (GRCm39) |
E263G |
probably damaging |
Het |
| Tnfrsf17 |
C |
T |
16: 11,133,191 (GRCm39) |
L90F |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,278,024 (GRCm39) |
K117E |
possibly damaging |
Het |
| Trim43a |
C |
T |
9: 88,466,389 (GRCm39) |
Q5* |
probably null |
Het |
| Ubn1 |
A |
T |
16: 4,890,935 (GRCm39) |
D498V |
probably damaging |
Het |
| Vipr1 |
T |
A |
9: 121,487,115 (GRCm39) |
C63S |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,932 (GRCm39) |
H218Q |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,671,844 (GRCm39) |
V527A |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,134,734 (GRCm39) |
T51S |
probably benign |
Het |
| Vwa8 |
G |
A |
14: 79,184,629 (GRCm39) |
V376I |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,802,732 (GRCm39) |
T1838S |
probably benign |
Het |
| Zcwpw1 |
A |
T |
5: 137,794,945 (GRCm39) |
E47V |
probably benign |
Het |
| Zfp111 |
A |
G |
7: 23,898,568 (GRCm39) |
Y348H |
probably damaging |
Het |
| Zfp53 |
T |
C |
17: 21,729,271 (GRCm39) |
S435P |
probably 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 |
|
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 |
|
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'- TGCTCATGAAATTCCATGCCTCTGC -3'
(R):5'- GAGATGGTCAAGGTTTCCCTGTCAC -3'
Sequencing Primer
(F):5'- TAAACACCCAGGCATGTAGTG -3'
(R):5'- AGGTTTCCCTGTCACTAAAAGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation