Incidental Mutation 'R7419:Zeb2'
| ID |
575498 |
| 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 |
045497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
44873644-45007407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44886359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 899
(N899K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028229]
[ENSMUST00000068415]
[ENSMUST00000076836]
[ENSMUST00000176438]
[ENSMUST00000176732]
[ENSMUST00000177302]
[ENSMUST00000200844]
[ENSMUST00000201804]
|
| AlphaFold |
Q9R0G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028229
AA Change: N899K
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: N899K
| 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: N855K
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: N855K
| 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: N854K
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: N854K
| 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: N855K
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: N855K
| 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: N855K
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: N855K
| 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: N831K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: N831K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (93/94) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,226,959 (GRCm39) |
S572P |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,247,833 (GRCm39) |
Y2527H |
probably damaging |
Het |
| Abcc5 |
A |
G |
16: 20,241,173 (GRCm39) |
I4T |
possibly damaging |
Het |
| Adamts12 |
C |
T |
15: 11,317,365 (GRCm39) |
T1355I |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,018,353 (GRCm39) |
T117A |
probably benign |
Het |
| Asb15 |
A |
G |
6: 24,556,555 (GRCm39) |
I17V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,672,777 (GRCm39) |
V194A |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,071,779 (GRCm39) |
V221A |
probably benign |
Het |
| Ccdc107 |
A |
T |
4: 43,493,512 (GRCm39) |
S28C |
probably benign |
Het |
| Cct4 |
C |
T |
11: 22,946,420 (GRCm39) |
T162I |
probably benign |
Het |
| Cdc40 |
A |
T |
10: 40,717,439 (GRCm39) |
H417Q |
probably damaging |
Het |
| Celf1 |
A |
G |
2: 90,833,588 (GRCm39) |
I115V |
probably benign |
Het |
| Ces3a |
A |
G |
8: 105,783,056 (GRCm39) |
Y395C |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,033,204 (GRCm39) |
C798F |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,435,088 (GRCm39) |
T313A |
probably benign |
Het |
| Crmp1 |
T |
A |
5: 37,436,229 (GRCm39) |
M329K |
probably benign |
Het |
| Csf2ra |
C |
T |
19: 61,215,491 (GRCm39) |
A76T |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,727 (GRCm39) |
V1154E |
possibly damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,014,188 (GRCm39) |
N455I |
probably benign |
Het |
| Cyp4a32 |
T |
G |
4: 115,468,234 (GRCm39) |
M268R |
probably benign |
Het |
| Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
| Dennd2a |
A |
G |
6: 39,500,397 (GRCm39) |
I56T |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,098,793 (GRCm39) |
S530R |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,532,715 (GRCm39) |
M1651K |
unknown |
Het |
| Epha3 |
G |
A |
16: 63,418,657 (GRCm39) |
T596I |
probably damaging |
Het |
| Fam171a2 |
C |
T |
11: 102,329,628 (GRCm39) |
C377Y |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,054,385 (GRCm39) |
N4142K |
probably damaging |
Het |
| Galnt5 |
C |
A |
2: 57,904,937 (GRCm39) |
S500Y |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,521,456 (GRCm39) |
V431A |
probably benign |
Het |
| Gm7544 |
C |
T |
1: 82,933,502 (GRCm39) |
C56Y |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,733,281 (GRCm39) |
L884I |
possibly damaging |
Het |
| Gpatch2l |
T |
G |
12: 86,312,025 (GRCm39) |
|
probably null |
Het |
| Gpr33 |
T |
C |
12: 52,070,050 (GRCm39) |
T330A |
probably benign |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Ifi205 |
A |
G |
1: 173,855,874 (GRCm39) |
M52T |
possibly damaging |
Het |
| Ino80 |
A |
T |
2: 119,210,495 (GRCm39) |
D1346E |
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,241,836 (GRCm39) |
K183R |
unknown |
Het |
| Itgal |
G |
T |
7: 126,906,047 (GRCm39) |
R379L |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,636,730 (GRCm39) |
T582S |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,781,251 (GRCm39) |
S708P |
possibly damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,806,011 (GRCm39) |
Y1200F |
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,948,537 (GRCm39) |
D473N |
probably benign |
Het |
| Lama1 |
T |
G |
17: 68,024,169 (GRCm39) |
I89R |
|
Het |
| Lama2 |
A |
G |
10: 27,142,630 (GRCm39) |
I616T |
probably benign |
Het |
| Lipm |
A |
C |
19: 34,093,881 (GRCm39) |
D266A |
probably benign |
Het |
| Lrrc4c |
A |
T |
2: 97,460,106 (GRCm39) |
H244L |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,925 (GRCm39) |
E414G |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,029,192 (GRCm39) |
V231A |
unknown |
Het |
| Me3 |
G |
T |
7: 89,385,927 (GRCm39) |
R92L |
probably damaging |
Het |
| Mroh7 |
T |
G |
4: 106,541,115 (GRCm39) |
I1175L |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,553,258 (GRCm39) |
M4345T |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,017,529 (GRCm39) |
Y422C |
possibly damaging |
Het |
| N6amt1 |
T |
G |
16: 87,164,454 (GRCm39) |
S214A |
possibly damaging |
Het |
| Ogfrl1 |
G |
A |
1: 23,422,063 (GRCm39) |
Q24* |
probably null |
Het |
| Or12e14 |
A |
T |
2: 87,677,406 (GRCm39) |
T264S |
probably benign |
Het |
| Or1ad6 |
T |
A |
11: 50,860,152 (GRCm39) |
Y102* |
probably null |
Het |
| Or2ag2b |
T |
C |
7: 106,417,551 (GRCm39) |
L87P |
possibly damaging |
Het |
| Or4f14 |
G |
A |
2: 111,742,435 (GRCm39) |
P280L |
probably damaging |
Het |
| Or4k6 |
A |
C |
14: 50,475,448 (GRCm39) |
V298G |
possibly damaging |
Het |
| Or4x13 |
A |
G |
2: 90,231,803 (GRCm39) |
D266G |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,353 (GRCm39) |
M66T |
probably benign |
Het |
| Or7g23 |
A |
C |
9: 19,086,642 (GRCm39) |
M110R |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,465 (GRCm39) |
I166L |
probably benign |
Het |
| Or8k3 |
C |
T |
2: 86,058,557 (GRCm39) |
G253R |
probably damaging |
Het |
| Oser1 |
A |
T |
2: 163,253,364 (GRCm39) |
D48E |
probably benign |
Het |
| Piwil4 |
G |
A |
9: 14,613,691 (GRCm39) |
P867L |
probably damaging |
Het |
| Pla2g6 |
C |
T |
15: 79,189,898 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
A |
G |
6: 89,334,584 (GRCm39) |
L15P |
unknown |
Het |
| Ppan |
C |
T |
9: 20,803,140 (GRCm39) |
T404I |
probably benign |
Het |
| Pros1 |
C |
A |
16: 62,748,433 (GRCm39) |
Y635* |
probably null |
Het |
| Rabep2 |
G |
A |
7: 126,043,342 (GRCm39) |
R414Q |
probably benign |
Het |
| Rbms3 |
T |
A |
9: 116,651,894 (GRCm39) |
E201V |
probably damaging |
Het |
| Robo4 |
A |
C |
9: 37,314,105 (GRCm39) |
I119L |
probably benign |
Het |
| S100b |
A |
T |
10: 76,095,820 (GRCm39) |
D66V |
probably damaging |
Het |
| Serpina1f |
A |
G |
12: 103,656,101 (GRCm39) |
S376P |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,193,350 (GRCm39) |
|
probably null |
Het |
| Slc30a6 |
T |
C |
17: 74,730,424 (GRCm39) |
V438A |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,897,804 (GRCm39) |
S594P |
probably benign |
Het |
| Tcstv1b |
A |
G |
13: 120,634,994 (GRCm39) |
E92G |
probably damaging |
Het |
| Tmem45b |
T |
C |
9: 31,339,334 (GRCm39) |
D213G |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,200,543 (GRCm39) |
D525E |
probably benign |
Het |
| Trim30c |
G |
T |
7: 104,037,472 (GRCm39) |
L165I |
probably benign |
Het |
| Unc13b |
A |
T |
4: 43,174,023 (GRCm39) |
D1617V |
unknown |
Het |
| Ush1c |
A |
G |
7: 45,878,679 (GRCm39) |
L112P |
probably damaging |
Het |
| Vipr1 |
T |
A |
9: 121,490,539 (GRCm39) |
I195N |
probably damaging |
Het |
| Vmn2r38 |
A |
C |
7: 9,078,354 (GRCm39) |
V676G |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,307,992 (GRCm39) |
Y749N |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,842,073 (GRCm39) |
S2615R |
|
Het |
| Whrn |
A |
G |
4: 63,334,330 (GRCm39) |
V828A |
possibly damaging |
Het |
| Zbp1 |
A |
G |
2: 173,050,958 (GRCm39) |
V304A |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,317,511 (GRCm39) |
S728P |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,902,207 (GRCm39) |
I712N |
possibly damaging |
Het |
| Zfp683 |
T |
C |
4: 133,786,211 (GRCm39) |
V446A |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,891,588 (GRCm39) |
V796D |
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 |
|
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 |
|
|
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'- GCGGTAGGAAGCTCATCTGATC -3'
(R):5'- GCTCGTACACTCCAAATAGCTTC -3'
Sequencing Primer
(F):5'- GTAGGAAGCTCATCTGATCCAGTC -3'
(R):5'- TTCTCTTCCGAGGAGCTGCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation