Incidental Mutation 'R4472:Zeb2'
ID |
330385 |
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 |
041729-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4472 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
44873644-45007407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44913023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 56
(L56Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000127520]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201211]
[ENSMUST00000201623]
[ENSMUST00000201804]
[ENSMUST00000201969]
[ENSMUST00000202187]
[ENSMUST00000202935]
[ENSMUST00000201490]
|
AlphaFold |
Q9R0G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028229
AA Change: L100Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028229 Gene: ENSMUSG00000026872 AA Change: L100Q
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: L56Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000069685 Gene: ENSMUSG00000026872 AA Change: L56Q
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: L56Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076111 Gene: ENSMUSG00000026872 AA Change: L56Q
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: ENSMUST00000127520
AA Change: L56Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131635
|
SMART Domains |
Protein: ENSMUSP00000135887 Gene: ENSMUSG00000026872
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145529
|
SMART Domains |
Protein: ENSMUSP00000134802 Gene: ENSMUSG00000026872
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174938
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176438
AA Change: L56Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134849 Gene: ENSMUSG00000026872 AA Change: L56Q
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 |
possibly damaging
Transcript: ENSMUST00000176732
AA Change: L56Q
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135393 Gene: ENSMUSG00000026872 AA Change: L56Q
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: L56Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134747 Gene: ENSMUSG00000026872 AA Change: L56Q
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 |
possibly damaging
Transcript: ENSMUST00000200844
AA Change: L56Q
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144421 Gene: ENSMUSG00000026872 AA Change: L56Q
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: L56Q
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144406 Gene: ENSMUSG00000026872 AA Change: L56Q
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201413
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201623
AA Change: L56Q
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144075 Gene: ENSMUSG00000026872 AA Change: L56Q
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
ZnF_C2H2
|
187 |
210 |
9.2e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201804
AA Change: L85Q
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144637 Gene: ENSMUSG00000026872 AA Change: L85Q
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 damaging
Transcript: ENSMUST00000201969
AA Change: L56Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144141 Gene: ENSMUSG00000026872 AA Change: L56Q
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202187
AA Change: L56Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144552 Gene: ENSMUSG00000026872 AA Change: L56Q
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202371
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202935
AA Change: L56Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143841 Gene: ENSMUSG00000026872 AA Change: L56Q
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209076
|
Meta Mutation Damage Score |
0.4577 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (66/68) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
A |
T |
9: 39,961,994 (GRCm39) |
|
noncoding transcript |
Het |
Accsl |
T |
A |
2: 93,694,336 (GRCm39) |
|
probably null |
Het |
Accsl |
G |
T |
2: 93,694,337 (GRCm39) |
|
probably null |
Het |
Adcy1 |
G |
A |
11: 7,080,369 (GRCm39) |
V371M |
probably damaging |
Het |
Adgrb2 |
C |
T |
4: 129,902,146 (GRCm39) |
A509V |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,312,525 (GRCm39) |
Q754L |
probably damaging |
Het |
Agap2 |
T |
C |
10: 126,927,082 (GRCm39) |
I1008T |
probably damaging |
Het |
Aph1c |
T |
G |
9: 66,735,051 (GRCm39) |
H150P |
probably damaging |
Het |
Atcay |
T |
C |
10: 81,048,361 (GRCm39) |
R242G |
possibly damaging |
Het |
Atg2a |
G |
A |
19: 6,308,985 (GRCm39) |
V1724M |
probably damaging |
Het |
Bbs12 |
T |
C |
3: 37,373,369 (GRCm39) |
V54A |
possibly damaging |
Het |
Card14 |
A |
G |
11: 119,224,784 (GRCm39) |
M604V |
possibly damaging |
Het |
Cd28 |
A |
T |
1: 60,802,393 (GRCm39) |
H104L |
probably benign |
Het |
Cntn5 |
A |
T |
9: 10,048,776 (GRCm39) |
D262E |
probably damaging |
Het |
Col6a3 |
A |
G |
1: 90,749,736 (GRCm39) |
V366A |
probably benign |
Het |
Csnk1d |
G |
A |
11: 120,855,800 (GRCm39) |
|
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,803,063 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
G |
A |
4: 11,304,053 (GRCm39) |
T119M |
possibly damaging |
Het |
Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
Fbrsl1 |
G |
A |
5: 110,526,932 (GRCm39) |
|
probably benign |
Het |
Fbxo10 |
C |
T |
4: 45,043,693 (GRCm39) |
R710H |
probably damaging |
Het |
Fbxw9 |
G |
A |
8: 85,786,829 (GRCm39) |
D25N |
probably damaging |
Het |
Gm14295 |
C |
T |
2: 176,501,386 (GRCm39) |
T292I |
possibly damaging |
Het |
Gm4884 |
C |
G |
7: 40,692,687 (GRCm39) |
Q219E |
probably benign |
Het |
Gpr150 |
A |
G |
13: 76,204,273 (GRCm39) |
V224A |
probably benign |
Het |
Hps1 |
A |
T |
19: 42,750,935 (GRCm39) |
I355N |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,804,178 (GRCm39) |
S374P |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,289,782 (GRCm39) |
N5458K |
probably damaging |
Het |
Man1b1 |
C |
G |
2: 25,222,867 (GRCm39) |
|
probably benign |
Het |
Morc3 |
A |
G |
16: 93,671,645 (GRCm39) |
|
probably null |
Het |
Mrgpra4 |
T |
C |
7: 47,631,539 (GRCm39) |
T21A |
probably benign |
Het |
Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
Nkain4 |
C |
G |
2: 180,596,415 (GRCm39) |
M1I |
probably null |
Het |
Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,879,220 (GRCm39) |
D373E |
possibly damaging |
Het |
Or8g37 |
T |
A |
9: 39,731,870 (GRCm39) |
*312R |
probably null |
Het |
Oser1 |
T |
A |
2: 163,257,500 (GRCm39) |
E11V |
probably null |
Het |
Oser1 |
C |
T |
2: 163,257,501 (GRCm39) |
E11K |
probably damaging |
Het |
Pacsin3 |
A |
G |
2: 91,093,288 (GRCm39) |
|
probably null |
Het |
Pcdh20 |
T |
C |
14: 88,706,434 (GRCm39) |
S289G |
probably benign |
Het |
Phlpp1 |
A |
G |
1: 106,314,176 (GRCm39) |
D1183G |
probably damaging |
Het |
Pign |
T |
C |
1: 105,575,945 (GRCm39) |
K232E |
probably benign |
Het |
Polk |
A |
G |
13: 96,630,413 (GRCm39) |
S383P |
probably damaging |
Het |
Prom2 |
C |
A |
2: 127,382,111 (GRCm39) |
R101L |
probably benign |
Het |
Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
Rnf31 |
T |
A |
14: 55,840,777 (GRCm39) |
Y1015N |
probably damaging |
Het |
Spata3 |
T |
C |
1: 85,954,152 (GRCm39) |
Y305H |
probably benign |
Het |
Sv2a |
G |
A |
3: 96,099,810 (GRCm39) |
V587M |
probably benign |
Het |
Synj1 |
A |
G |
16: 90,766,069 (GRCm39) |
|
probably null |
Het |
Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
Tcaf1 |
A |
C |
6: 42,656,248 (GRCm39) |
S243A |
probably benign |
Het |
Tmem9 |
A |
G |
1: 135,955,234 (GRCm39) |
T123A |
probably benign |
Het |
Trav4-4-dv10 |
T |
C |
14: 53,921,187 (GRCm39) |
|
probably benign |
Het |
Trbv15 |
G |
A |
6: 41,118,493 (GRCm39) |
R83Q |
probably damaging |
Het |
Trim27 |
A |
G |
13: 21,374,056 (GRCm39) |
I268V |
probably benign |
Het |
Tubgcp6 |
T |
A |
15: 88,987,857 (GRCm39) |
S1031C |
probably damaging |
Het |
Vmn1r89 |
C |
A |
7: 12,953,799 (GRCm39) |
H110Q |
probably benign |
Het |
Vmn2r30 |
T |
C |
7: 7,320,091 (GRCm39) |
N545S |
probably damaging |
Het |
Wls |
G |
A |
3: 159,603,020 (GRCm39) |
M144I |
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,076,344 (GRCm39) |
|
probably null |
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 |
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'- GGACAGACAGACACTTACCTGG -3'
(R):5'- TTCCTGACATGGTTGAGTAATTCAG -3'
Sequencing Primer
(F):5'- TTACCTGGACCGGCTACAGAG -3'
(R):5'- GACATGGTTGAGTAATTCAGTTACG -3'
|
Posted On |
2015-07-21 |