Incidental Mutation 'R4918:Zeb2'
ID |
378364 |
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 |
042520-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4918 (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 44886894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 706
(I706T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000201804]
[ENSMUST00000200844]
[ENSMUST00000201211]
[ENSMUST00000201623]
|
AlphaFold |
Q9R0G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028229
AA Change: I721T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028229 Gene: ENSMUSG00000026872 AA Change: I721T
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: ENSMUST00000068415
AA Change: I677T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000069685 Gene: ENSMUSG00000026872 AA Change: I677T
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: I676T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076111 Gene: ENSMUSG00000026872 AA Change: I676T
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 |
possibly damaging
Transcript: ENSMUST00000176438
AA Change: I677T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134849 Gene: ENSMUSG00000026872 AA Change: I677T
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 |
possibly damaging
Transcript: ENSMUST00000177302
AA Change: I677T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134747 Gene: ENSMUSG00000026872 AA Change: I677T
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: ENSMUST00000201804
AA Change: I706T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144637 Gene: ENSMUSG00000026872 AA Change: I706T
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: ENSMUST00000200844
AA Change: I653T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144421 Gene: ENSMUSG00000026872 AA Change: I653T
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 |
noncoding transcript
Transcript: ENSMUST00000209076
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202432
|
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 |
|
Meta Mutation Damage Score |
0.4573 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
99% (116/117) |
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: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,071,377 (GRCm39) |
I1492F |
probably damaging |
Het |
Ago4 |
A |
C |
4: 126,400,635 (GRCm39) |
C693G |
probably damaging |
Het |
Apobec2 |
T |
C |
17: 48,730,153 (GRCm39) |
E171G |
probably benign |
Het |
Arfgef3 |
T |
A |
10: 18,492,638 (GRCm39) |
I1258F |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,227,556 (GRCm39) |
E434G |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,744,387 (GRCm39) |
T1373S |
possibly damaging |
Het |
Bcas1 |
T |
C |
2: 170,220,806 (GRCm39) |
D324G |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,191,713 (GRCm39) |
V1422E |
probably damaging |
Het |
Bfsp1 |
C |
T |
2: 143,669,391 (GRCm39) |
R396Q |
probably benign |
Het |
Bnip1 |
C |
T |
17: 27,002,525 (GRCm39) |
|
probably benign |
Het |
Bnip5 |
T |
G |
17: 29,127,337 (GRCm39) |
Q224P |
probably benign |
Het |
Bpifb9b |
T |
A |
2: 154,156,026 (GRCm39) |
|
probably null |
Het |
Casp8 |
T |
C |
1: 58,866,377 (GRCm39) |
F126S |
probably damaging |
Het |
Cdh26 |
T |
C |
2: 178,091,614 (GRCm39) |
S58P |
probably benign |
Het |
Cntnap2 |
T |
C |
6: 46,506,969 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
C |
1: 24,276,339 (GRCm39) |
I749T |
possibly damaging |
Het |
Ddx50 |
A |
T |
10: 62,463,450 (GRCm39) |
C414* |
probably null |
Het |
Defb42 |
A |
G |
14: 63,285,790 (GRCm39) |
I57V |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,500,296 (GRCm39) |
F943S |
probably damaging |
Het |
Dhx40 |
G |
T |
11: 86,695,217 (GRCm39) |
H98N |
possibly damaging |
Het |
Disp2 |
A |
T |
2: 118,620,935 (GRCm39) |
S556C |
probably damaging |
Het |
Dpysl5 |
T |
G |
5: 30,949,612 (GRCm39) |
F461V |
probably damaging |
Het |
Efcab11 |
T |
C |
12: 99,685,321 (GRCm39) |
D151G |
probably damaging |
Het |
Egfem1 |
T |
C |
3: 29,206,042 (GRCm39) |
V93A |
probably damaging |
Het |
Ehbp1 |
T |
C |
11: 22,096,592 (GRCm39) |
D299G |
probably benign |
Het |
Esyt2 |
T |
C |
12: 116,287,760 (GRCm39) |
V226A |
probably benign |
Het |
Fan1 |
A |
T |
7: 64,023,286 (GRCm39) |
|
probably benign |
Het |
Fasn |
T |
G |
11: 120,707,472 (GRCm39) |
N799T |
probably benign |
Het |
Fbxo3 |
T |
G |
2: 103,885,311 (GRCm39) |
N388K |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,873,220 (GRCm39) |
K1287E |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
Fsip2 |
G |
A |
2: 82,824,114 (GRCm39) |
V6616I |
possibly damaging |
Het |
Fut8 |
G |
T |
12: 77,521,818 (GRCm39) |
A486S |
probably damaging |
Het |
Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
Gm10764 |
A |
G |
10: 87,126,579 (GRCm39) |
|
noncoding transcript |
Het |
Gm6788 |
C |
T |
19: 28,740,664 (GRCm39) |
|
noncoding transcript |
Het |
Gm8122 |
T |
C |
14: 43,091,573 (GRCm39) |
N65S |
unknown |
Het |
Golga4 |
C |
A |
9: 118,387,213 (GRCm39) |
S1445Y |
probably damaging |
Het |
Gsdmd |
A |
G |
15: 75,736,241 (GRCm39) |
I123M |
probably benign |
Het |
Hsf4 |
A |
G |
8: 105,999,367 (GRCm39) |
E235G |
probably benign |
Het |
Ifi206 |
T |
A |
1: 173,309,610 (GRCm39) |
T129S |
possibly damaging |
Het |
Jakmip1 |
G |
A |
5: 37,248,619 (GRCm39) |
R93Q |
probably damaging |
Het |
Kcnj1 |
T |
A |
9: 32,308,056 (GRCm39) |
L160Q |
probably damaging |
Het |
Kif1a |
T |
A |
1: 93,002,700 (GRCm39) |
E233V |
probably benign |
Het |
Krt5 |
A |
T |
15: 101,618,742 (GRCm39) |
Y340N |
probably damaging |
Het |
Krt90 |
T |
A |
15: 101,470,914 (GRCm39) |
H116L |
possibly damaging |
Het |
Large2 |
A |
G |
2: 92,196,452 (GRCm39) |
|
probably benign |
Het |
Marchf4 |
T |
G |
1: 72,467,938 (GRCm39) |
S365R |
probably benign |
Het |
Mei4 |
A |
G |
9: 81,772,216 (GRCm39) |
T10A |
probably benign |
Het |
Meis1 |
T |
C |
11: 18,959,222 (GRCm39) |
|
probably benign |
Het |
Mllt1 |
T |
C |
17: 57,206,813 (GRCm39) |
T344A |
probably benign |
Het |
Mrps28 |
A |
G |
3: 8,947,614 (GRCm39) |
|
probably benign |
Het |
Ncdn |
G |
A |
4: 126,643,731 (GRCm39) |
L364F |
possibly damaging |
Het |
Nckap1l |
A |
G |
15: 103,392,040 (GRCm39) |
N825S |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,051,284 (GRCm39) |
D47E |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,498,458 (GRCm39) |
I172V |
probably benign |
Het |
Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
Nsf |
G |
A |
11: 103,801,185 (GRCm39) |
|
probably benign |
Het |
Or1b1 |
A |
T |
2: 36,995,170 (GRCm39) |
I164N |
possibly damaging |
Het |
Or1n1b |
A |
G |
2: 36,780,344 (GRCm39) |
I172T |
probably damaging |
Het |
Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
Or51g2 |
A |
T |
7: 102,622,614 (GRCm39) |
I195N |
possibly damaging |
Het |
Or5ak20 |
C |
T |
2: 85,183,632 (GRCm39) |
V213I |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,355 (GRCm39) |
I223L |
possibly damaging |
Het |
Or5bw2 |
C |
T |
7: 6,573,643 (GRCm39) |
L218F |
possibly damaging |
Het |
Or9g10 |
T |
C |
2: 85,584,465 (GRCm39) |
|
probably benign |
Het |
Pcdh20 |
A |
C |
14: 88,705,104 (GRCm39) |
L732R |
probably damaging |
Het |
Pgbd5 |
C |
A |
8: 125,097,305 (GRCm39) |
K408N |
probably benign |
Het |
Pip4k2c |
T |
C |
10: 127,035,196 (GRCm39) |
T391A |
possibly damaging |
Het |
Ppm1k |
T |
A |
6: 57,487,762 (GRCm39) |
N354Y |
probably damaging |
Het |
Prpf18 |
T |
C |
2: 4,641,981 (GRCm39) |
D186G |
probably benign |
Het |
Rab3gap1 |
T |
A |
1: 127,816,914 (GRCm39) |
W58R |
possibly damaging |
Het |
Rbp3 |
T |
C |
14: 33,677,368 (GRCm39) |
Y439H |
probably damaging |
Het |
Rere |
T |
A |
4: 150,703,601 (GRCm39) |
W1528R |
probably damaging |
Het |
Rsf1 |
T |
C |
7: 97,311,612 (GRCm39) |
S781P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,609,872 (GRCm39) |
V753A |
probably damaging |
Het |
Schip1 |
A |
T |
3: 68,315,818 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
A |
12: 40,119,373 (GRCm39) |
I552F |
possibly damaging |
Het |
Scn3a |
T |
C |
2: 65,291,799 (GRCm39) |
N1649S |
probably damaging |
Het |
Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
Slc20a2 |
C |
T |
8: 23,051,020 (GRCm39) |
S351L |
probably damaging |
Het |
Slc35e2 |
C |
A |
4: 155,700,693 (GRCm39) |
P272Q |
probably damaging |
Het |
Slc4a1 |
A |
G |
11: 102,243,279 (GRCm39) |
V784A |
probably damaging |
Het |
Slco1b2 |
G |
A |
6: 141,615,096 (GRCm39) |
V334I |
probably benign |
Het |
Slf2 |
T |
G |
19: 44,960,100 (GRCm39) |
D1022E |
probably damaging |
Het |
Spag6 |
A |
T |
2: 18,750,360 (GRCm39) |
I469F |
probably benign |
Het |
Spsb2 |
A |
C |
6: 124,786,711 (GRCm39) |
E148A |
probably benign |
Het |
Sulf1 |
A |
G |
1: 12,888,720 (GRCm39) |
D335G |
probably damaging |
Het |
Tchhl1 |
A |
G |
3: 93,377,623 (GRCm39) |
D109G |
possibly damaging |
Het |
Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
Thsd7a |
A |
C |
6: 12,327,558 (GRCm39) |
I1438S |
probably damaging |
Het |
Tm4sf1 |
C |
T |
3: 57,200,448 (GRCm39) |
G85S |
probably damaging |
Het |
Tmem63a |
T |
A |
1: 180,794,086 (GRCm39) |
I541N |
probably benign |
Het |
Trav6d-4 |
T |
C |
14: 52,991,240 (GRCm39) |
F95S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,589,598 (GRCm39) |
T21219A |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,685,709 (GRCm39) |
Y2278H |
possibly damaging |
Het |
Usp8 |
A |
T |
2: 126,562,060 (GRCm39) |
K85* |
probably null |
Het |
Vmn2r69 |
T |
A |
7: 85,055,967 (GRCm39) |
M724L |
probably benign |
Het |
Zfp512 |
T |
C |
5: 31,634,209 (GRCm39) |
S407P |
probably damaging |
Het |
Zfp791 |
T |
A |
8: 85,837,580 (GRCm39) |
I95L |
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 |
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 |
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'- CACAACTCGTAACACTGTTGTG -3'
(R):5'- ATAGTCCCCAACAAAGCTGG -3'
Sequencing Primer
(F):5'- GTCCATAGGTTTTACAGGAGACC -3'
(R):5'- CCCCAACAAAGCTGGAGTTTTTG -3'
|
Posted On |
2016-04-15 |