Incidental Mutation 'R4816:Zeb2'
| ID |
369764 |
| 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 |
042434-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4816 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
44873644-45007407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44887780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 382
(S382P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201804]
[ENSMUST00000201211]
[ENSMUST00000201623]
[ENSMUST00000201969]
|
| AlphaFold |
Q9R0G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028229
AA Change: S426P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: S426P
| 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: S382P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: S382P
| 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: S381P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: S381P
| 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: S382P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: S382P
| 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: S382P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: S382P
| 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: S358P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: S358P
| 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
AA Change: S411P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: S411P
| 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 |
noncoding transcript
Transcript: ENSMUST00000201413
|
| 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: ENSMUST00000202432
|
| 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: ENSMUST00000201969
|
| SMART Domains |
Protein: ENSMUSP00000144141
Gene: ENSMUSG00000026872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0618 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (113/116) |
| 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: 107 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,754,131 (GRCm39) |
A1562S |
probably benign |
Het |
| Adam30 |
C |
A |
3: 98,070,061 (GRCm39) |
D631E |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,676,793 (GRCm39) |
T2013A |
probably damaging |
Het |
| Ark2n |
A |
T |
18: 77,740,995 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,466,269 (GRCm39) |
|
probably benign |
Het |
| Bicra |
T |
C |
7: 15,722,831 (GRCm39) |
T229A |
possibly damaging |
Het |
| C1qbp |
A |
G |
11: 70,873,190 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
C |
A |
7: 100,040,226 (GRCm39) |
T265K |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,043,007 (GRCm39) |
I1331K |
possibly damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Cdcp2 |
A |
G |
4: 106,963,969 (GRCm39) |
Y273C |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,244,856 (GRCm39) |
V1013G |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,386,529 (GRCm39) |
I39N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,405,674 (GRCm39) |
S1619R |
probably damaging |
Het |
| Cfap36 |
A |
G |
11: 29,195,108 (GRCm39) |
I42T |
probably damaging |
Het |
| Cfap61 |
G |
T |
2: 145,985,020 (GRCm39) |
V955L |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,046,750 (GRCm39) |
D388N |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,527,458 (GRCm39) |
I447L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,330 (GRCm39) |
T1538A |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,905 (GRCm39) |
K9E |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,625,186 (GRCm39) |
M560K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,466,779 (GRCm39) |
T550S |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,799,505 (GRCm39) |
E460G |
probably damaging |
Het |
| Dus1l |
GAGGTAAG |
GAG |
11: 120,680,584 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,320,927 (GRCm39) |
V120E |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,689,001 (GRCm39) |
Y769C |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,942,874 (GRCm39) |
Y22C |
probably damaging |
Het |
| Flacc1 |
G |
A |
1: 58,709,567 (GRCm39) |
A196V |
probably benign |
Het |
| Gbp3 |
T |
C |
3: 142,273,335 (GRCm39) |
V294A |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,239,104 (GRCm39) |
|
probably benign |
Het |
| Gm15130 |
A |
T |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
| Gm6185 |
A |
T |
1: 161,040,728 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr171 |
T |
A |
3: 59,005,517 (GRCm39) |
H86L |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,230,074 (GRCm39) |
T694A |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,502,794 (GRCm39) |
V124E |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,135 (GRCm39) |
M60T |
probably benign |
Het |
| H2-M5 |
A |
G |
17: 37,300,309 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,902,984 (GRCm39) |
N2355K |
probably damaging |
Het |
| Il9r |
A |
C |
11: 32,142,654 (GRCm39) |
S295A |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,288 (GRCm39) |
T313A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,334,389 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,610,661 (GRCm39) |
V1175M |
possibly damaging |
Het |
| Lhpp |
T |
A |
7: 132,272,104 (GRCm39) |
C242* |
probably null |
Het |
| Lipe |
A |
G |
7: 25,079,568 (GRCm39) |
S1013P |
probably damaging |
Het |
| Lrrc25 |
C |
T |
8: 71,070,726 (GRCm39) |
T169I |
probably benign |
Het |
| Lrrc39 |
T |
C |
3: 116,362,515 (GRCm39) |
|
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,901,126 (GRCm39) |
L477* |
probably null |
Het |
| Lrriq4 |
A |
G |
3: 30,714,196 (GRCm39) |
I515V |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,030,840 (GRCm39) |
Y1248C |
unknown |
Het |
| Maml1 |
G |
T |
11: 50,149,162 (GRCm39) |
N859K |
possibly damaging |
Het |
| Mdm1 |
A |
T |
10: 117,982,782 (GRCm39) |
H139L |
possibly damaging |
Het |
| Mef2d |
C |
T |
3: 88,075,397 (GRCm39) |
P420S |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,101,848 (GRCm39) |
K38E |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,494,923 (GRCm39) |
V405A |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,356,195 (GRCm39) |
T1140M |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
A |
13: 100,356,189 (GRCm39) |
S1142F |
probably benign |
Het |
| Nfe2l3 |
T |
C |
6: 51,433,604 (GRCm39) |
S239P |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,439,127 (GRCm39) |
I235V |
probably benign |
Het |
| Nyap2 |
T |
A |
1: 81,219,028 (GRCm39) |
L318Q |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,109,458 (GRCm39) |
V1522M |
probably damaging |
Het |
| Oog3 |
A |
G |
4: 143,885,731 (GRCm39) |
L289P |
probably damaging |
Het |
| Or52n20 |
C |
T |
7: 104,319,942 (GRCm39) |
P11L |
probably benign |
Het |
| Or5b107 |
A |
G |
19: 13,142,488 (GRCm39) |
I37V |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,627,308 (GRCm39) |
D50G |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,726 (GRCm39) |
M257K |
possibly damaging |
Het |
| Or9g20 |
A |
T |
2: 85,630,391 (GRCm39) |
N74K |
probably benign |
Het |
| Pax6 |
T |
C |
2: 105,514,129 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
G |
A |
14: 30,832,405 (GRCm39) |
R1441K |
probably benign |
Het |
| Pcdha9 |
C |
T |
18: 37,132,511 (GRCm39) |
R527W |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,450 (GRCm39) |
S747P |
probably benign |
Het |
| Pcnx3 |
A |
C |
19: 5,738,023 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
T |
5: 65,808,632 (GRCm39) |
V413E |
probably damaging |
Het |
| Phpt1 |
G |
T |
2: 25,464,332 (GRCm39) |
|
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,483,780 (GRCm39) |
E220G |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,193,587 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,269,639 (GRCm39) |
I3302L |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,655,822 (GRCm39) |
L241P |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,515,284 (GRCm39) |
I65N |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,588,997 (GRCm39) |
L954P |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,136,893 (GRCm38) |
M138R |
probably damaging |
Het |
| Rasl11b |
G |
T |
5: 74,359,058 (GRCm39) |
D188Y |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,872,644 (GRCm39) |
F59S |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,565,243 (GRCm39) |
I248S |
possibly damaging |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Setdb2 |
G |
A |
14: 59,651,095 (GRCm39) |
T412I |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,606,043 (GRCm39) |
N75K |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,427,318 (GRCm39) |
I791N |
probably damaging |
Het |
| Slc25a13 |
T |
A |
6: 6,114,274 (GRCm39) |
M213L |
possibly damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,760,623 (GRCm39) |
Y298C |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,362 (GRCm39) |
N495S |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,451,231 (GRCm39) |
T292A |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,939,425 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
C |
T |
6: 132,870,745 (GRCm39) |
P258S |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,029,567 (GRCm39) |
S530G |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,918,117 (GRCm39) |
V1881A |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,878,606 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Tmcc3 |
G |
T |
10: 94,414,646 (GRCm39) |
G147V |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,972,264 (GRCm39) |
E195V |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,290,349 (GRCm39) |
Y45C |
probably benign |
Het |
| Umad1 |
A |
C |
6: 8,457,462 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,428,953 (GRCm39) |
I708V |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,743,711 (GRCm39) |
S494C |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,251,599 (GRCm39) |
S1304G |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,074 (GRCm39) |
T611K |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,743 (GRCm39) |
T642I |
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 |
|
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'- CCAAGTAAAGGGGCTTCCATC -3'
(R):5'- AGAAACGCTTCTCTCATTCTGG -3'
Sequencing Primer
(F):5'- GGGCTTCCATCCCTACACCTAAG -3'
(R):5'- GGGTCCTACAGTTCACATATCAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation