Incidental Mutation 'R0110:Zfp423'
| ID |
20385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp423
|
| Ensembl Gene |
ENSMUSG00000045333 |
| Gene Name |
zinc finger protein 423 |
| Synonyms |
Roaz, Zfp104, Ebfaz, ataxia1 |
| MMRRC Submission |
038396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R0110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
88388438-88686223 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88508887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 486
(S486P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052250]
[ENSMUST00000109655]
[ENSMUST00000165770]
[ENSMUST00000174249]
[ENSMUST00000174764]
|
| AlphaFold |
Q80TS5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052250
AA Change: S465P
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052379
Gene: ENSMUSG00000045333
AA Change: S465P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
54 |
75 |
5.07e0 |
SMART |
|
low complexity region
|
107 |
123 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
125 |
147 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
153 |
175 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
181 |
203 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
209 |
231 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
250 |
273 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
282 |
305 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
310 |
332 |
8.67e-1 |
SMART |
|
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
396 |
420 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
428 |
451 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
467 |
490 |
7.9e-4 |
SMART |
|
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
504 |
527 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
550 |
575 |
3.99e0 |
SMART |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
619 |
641 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
679 |
702 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
707 |
730 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
737 |
760 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
768 |
790 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
794 |
817 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
873 |
896 |
4.12e0 |
SMART |
|
ZnF_C2H2
|
917 |
939 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
946 |
968 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
975 |
997 |
4.94e0 |
SMART |
|
ZnF_C2H2
|
1007 |
1029 |
4.99e1 |
SMART |
|
Pfam:zf-C2H2_6
|
1050 |
1068 |
1.6e-1 |
PFAM |
|
ZnF_C2H2
|
1107 |
1130 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
1155 |
1177 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
1185 |
1207 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
1216 |
1239 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1246 |
1269 |
4.05e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109655
AA Change: S486P
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333
AA Change: S486P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
75 |
96 |
5.07e0 |
SMART |
|
low complexity region
|
128 |
144 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
146 |
168 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
271 |
294 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
303 |
326 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
331 |
353 |
8.67e-1 |
SMART |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
417 |
441 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
449 |
472 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
488 |
511 |
7.9e-4 |
SMART |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
525 |
548 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
571 |
596 |
3.99e0 |
SMART |
|
low complexity region
|
612 |
623 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
640 |
662 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
670 |
692 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
700 |
723 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
728 |
751 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
758 |
781 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
789 |
811 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
815 |
838 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
894 |
917 |
4.12e0 |
SMART |
|
ZnF_C2H2
|
938 |
960 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
967 |
989 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
996 |
1018 |
4.94e0 |
SMART |
|
ZnF_C2H2
|
1028 |
1050 |
4.99e1 |
SMART |
|
ZnF_C2H2
|
1128 |
1151 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
1176 |
1198 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
1206 |
1228 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
1237 |
1260 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1267 |
1290 |
4.05e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165770
AA Change: S361P
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129724
Gene: ENSMUSG00000045333
AA Change: S361P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
21 |
43 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
49 |
71 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
77 |
99 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
105 |
127 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
146 |
169 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
178 |
201 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
206 |
228 |
8.67e-1 |
SMART |
|
low complexity region
|
246 |
260 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
292 |
316 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
324 |
347 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
363 |
386 |
7.9e-4 |
SMART |
|
low complexity region
|
388 |
399 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
400 |
423 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
446 |
471 |
3.99e0 |
SMART |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
515 |
537 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
575 |
598 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
603 |
626 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
633 |
656 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
664 |
686 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
690 |
713 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
769 |
792 |
4.12e0 |
SMART |
|
ZnF_C2H2
|
813 |
835 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
842 |
864 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
871 |
893 |
4.94e0 |
SMART |
|
ZnF_C2H2
|
903 |
925 |
4.99e1 |
SMART |
|
Pfam:zf-C2H2_6
|
946 |
964 |
2.5e-1 |
PFAM |
|
ZnF_C2H2
|
1003 |
1026 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
1051 |
1073 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
1081 |
1103 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
1112 |
1135 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1142 |
1165 |
4.05e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173725
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174249
|
| SMART Domains |
Protein: ENSMUSP00000134103
Gene: ENSMUSG00000045333
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
76 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
78 |
100 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174764
|
| SMART Domains |
Protein: ENSMUSP00000134575
Gene: ENSMUSG00000045333
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
78 |
99 |
5.07e0 |
SMART |
|
low complexity region
|
131 |
147 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
149 |
171 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
177 |
199 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
205 |
227 |
2.05e-2 |
SMART |
|
Pfam:zf-C2H2_6
|
232 |
244 |
2.5e-1 |
PFAM |
|
| Meta Mutation Damage Score |
0.0965 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.0%
|
| Validation Efficiency |
98% (105/107) |
| 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 nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mutations in this gene lead to postnatal lethality, abnormal gait, ataxia, reduced body size, loss of the corpus callosum, reduction of the hippocampus, olfactory bulb defects, and variable malformation of the cerebellum, including vermis agenesis, due to reduced proliferation of neural precursors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,001,320 (GRCm39) |
|
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,125,482 (GRCm39) |
I67T |
probably damaging |
Het |
| Adam10 |
T |
A |
9: 70,655,530 (GRCm39) |
W333R |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,995,596 (GRCm39) |
R5627* |
probably null |
Het |
| AI606181 |
A |
C |
19: 41,582,170 (GRCm39) |
K113N |
unknown |
Het |
| Alms1 |
A |
T |
6: 85,597,351 (GRCm39) |
R1195* |
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,618,914 (GRCm39) |
D1646G |
possibly damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,360,990 (GRCm39) |
I334N |
possibly damaging |
Het |
| Arpc1b |
T |
A |
5: 145,064,525 (GRCm39) |
W361R |
probably damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,212,701 (GRCm39) |
Y438C |
probably damaging |
Het |
| Brd8dc |
A |
T |
18: 34,729,204 (GRCm39) |
D42E |
probably damaging |
Het |
| Ccdc110 |
T |
A |
8: 46,388,194 (GRCm39) |
N50K |
probably benign |
Het |
| Ccdc168 |
C |
A |
1: 44,098,384 (GRCm39) |
V905F |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,802,633 (GRCm39) |
Y610C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,704,204 (GRCm39) |
C229Y |
possibly damaging |
Het |
| Clca4b |
A |
T |
3: 144,619,112 (GRCm39) |
Y676N |
probably damaging |
Het |
| Cntln |
C |
T |
4: 85,014,994 (GRCm39) |
T1095I |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,255,797 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
T |
3: 113,899,105 (GRCm39) |
|
probably benign |
Het |
| Cpe |
T |
A |
8: 65,064,501 (GRCm39) |
I233F |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,537 (GRCm39) |
V446A |
probably damaging |
Het |
| Defa34 |
A |
G |
8: 22,155,988 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,520,856 (GRCm39) |
R1892G |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,671,311 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,606,378 (GRCm39) |
Q2483K |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,652,679 (GRCm39) |
D759E |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,485,625 (GRCm39) |
T22A |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,942,841 (GRCm39) |
S319C |
probably damaging |
Het |
| Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
| Fam83b |
G |
T |
9: 76,400,108 (GRCm39) |
L332I |
possibly damaging |
Het |
| Gal3st2c |
C |
T |
1: 93,937,219 (GRCm39) |
P388L |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,870,721 (GRCm39) |
P47S |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,899,370 (GRCm39) |
L919R |
probably damaging |
Het |
| Gm5134 |
C |
A |
10: 75,810,079 (GRCm39) |
T120N |
probably benign |
Het |
| Gmip |
C |
T |
8: 70,268,259 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
C |
T |
1: 125,605,237 (GRCm39) |
T55M |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,873,557 (GRCm39) |
T208A |
probably damaging |
Het |
| Gsdme |
C |
A |
6: 50,223,107 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,126,402 (GRCm39) |
D326G |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,374,483 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,419,959 (GRCm39) |
Y635N |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,443,736 (GRCm39) |
E1319K |
possibly damaging |
Het |
| Ikbkb |
A |
T |
8: 23,161,651 (GRCm39) |
C412* |
probably null |
Het |
| Itpa |
A |
T |
2: 130,521,338 (GRCm39) |
|
probably benign |
Het |
| Klhl10 |
A |
G |
11: 100,347,758 (GRCm39) |
T605A |
probably benign |
Het |
| Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,652,632 (GRCm39) |
|
probably benign |
Het |
| Lrrc10 |
T |
A |
10: 116,881,695 (GRCm39) |
L123Q |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,971,105 (GRCm39) |
L273P |
probably damaging |
Het |
| Mbl1 |
A |
G |
14: 40,880,706 (GRCm39) |
N198S |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,517,700 (GRCm39) |
K45E |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,243,353 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,665,109 (GRCm39) |
E1149K |
possibly damaging |
Het |
| Naca |
C |
T |
10: 127,880,659 (GRCm39) |
A1897V |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,850,489 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,180,755 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,413,895 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,561 (GRCm39) |
Y102C |
probably benign |
Het |
| Or8g27 |
G |
A |
9: 39,129,024 (GRCm39) |
V124I |
possibly damaging |
Het |
| Parp2 |
T |
A |
14: 51,057,130 (GRCm39) |
Y361N |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,348,995 (GRCm39) |
F466L |
possibly damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,126,808 (GRCm39) |
N296Y |
probably damaging |
Het |
| Pcf11 |
G |
A |
7: 92,307,039 (GRCm39) |
P1043L |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,128,014 (GRCm39) |
I884N |
probably damaging |
Het |
| Phf24 |
G |
T |
4: 42,933,761 (GRCm39) |
V48L |
possibly damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,716,398 (GRCm39) |
M688L |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,010 (GRCm39) |
L673P |
probably damaging |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
| Prmt1 |
A |
G |
7: 44,628,225 (GRCm39) |
|
probably benign |
Het |
| Proc |
G |
A |
18: 32,258,171 (GRCm39) |
T258I |
probably benign |
Het |
| Prom2 |
T |
G |
2: 127,373,033 (GRCm39) |
S679R |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,066,479 (GRCm39) |
T153A |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,754 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,702,953 (GRCm39) |
K550E |
probably benign |
Het |
| Rtn4 |
T |
A |
11: 29,683,849 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
T |
A |
1: 32,584,956 (GRCm39) |
N318I |
possibly damaging |
Het |
| Ssh1 |
A |
T |
5: 114,084,766 (GRCm39) |
D448E |
probably benign |
Het |
| Ssmem1 |
A |
T |
6: 30,519,547 (GRCm39) |
|
probably null |
Het |
| Stam2 |
A |
T |
2: 52,609,998 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,317,600 (GRCm39) |
L498P |
probably damaging |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Taf6l |
G |
T |
19: 8,755,885 (GRCm39) |
H254Q |
probably benign |
Het |
| Tas2r123 |
T |
C |
6: 132,824,295 (GRCm39) |
V64A |
probably benign |
Het |
| Tnnc1 |
A |
G |
14: 30,933,365 (GRCm39) |
D149G |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,038,853 (GRCm39) |
D1133G |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,664 (GRCm39) |
V756E |
probably benign |
Het |
| Traf3ip3 |
T |
A |
1: 192,860,539 (GRCm39) |
|
probably null |
Het |
| Tsen15 |
A |
G |
1: 152,247,548 (GRCm39) |
V148A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,694,672 (GRCm39) |
|
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,343,870 (GRCm39) |
I90V |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,045,329 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,655,787 (GRCm39) |
S155P |
possibly damaging |
Het |
| Wdr41 |
T |
C |
13: 95,154,619 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
probably benign |
Het |
|
| Other mutations in Zfp423 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Zfp423
|
APN |
8 |
88,508,239 (GRCm39) |
splice site |
probably null |
|
|
IGL01359:Zfp423
|
APN |
8 |
88,507,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01780:Zfp423
|
APN |
8 |
88,508,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02250:Zfp423
|
APN |
8 |
88,509,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02301:Zfp423
|
APN |
8 |
88,508,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Zfp423
|
APN |
8 |
88,508,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Zfp423
|
APN |
8 |
88,509,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03090:Zfp423
|
APN |
8 |
88,508,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03198:Zfp423
|
APN |
8 |
88,508,304 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03383:Zfp423
|
APN |
8 |
88,586,080 (GRCm39) |
nonsense |
probably null |
|
|
swell
|
UTSW |
8 |
88,413,187 (GRCm39) |
splice site |
probably null |
|
|
Temptation
|
UTSW |
8 |
88,508,381 (GRCm39) |
missense |
probably benign |
0.25 |
|
trials
|
UTSW |
8 |
88,507,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Zfp423
|
UTSW |
8 |
88,506,968 (GRCm39) |
nonsense |
probably null |
|
|
R0256:Zfp423
|
UTSW |
8 |
88,500,262 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Zfp423
|
UTSW |
8 |
88,508,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0542:Zfp423
|
UTSW |
8 |
88,507,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Zfp423
|
UTSW |
8 |
88,508,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1179:Zfp423
|
UTSW |
8 |
88,414,700 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1417:Zfp423
|
UTSW |
8 |
88,500,284 (GRCm39) |
splice site |
probably null |
|
|
R1429:Zfp423
|
UTSW |
8 |
88,413,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1570:Zfp423
|
UTSW |
8 |
88,509,186 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2013:Zfp423
|
UTSW |
8 |
88,509,025 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2043:Zfp423
|
UTSW |
8 |
88,509,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Zfp423
|
UTSW |
8 |
88,507,986 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2108:Zfp423
|
UTSW |
8 |
88,507,806 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2358:Zfp423
|
UTSW |
8 |
88,507,179 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3177:Zfp423
|
UTSW |
8 |
88,508,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Zfp423
|
UTSW |
8 |
88,508,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Zfp423
|
UTSW |
8 |
88,507,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Zfp423
|
UTSW |
8 |
88,507,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Zfp423
|
UTSW |
8 |
88,507,140 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4034:Zfp423
|
UTSW |
8 |
88,507,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Zfp423
|
UTSW |
8 |
88,509,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Zfp423
|
UTSW |
8 |
88,414,709 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4700:Zfp423
|
UTSW |
8 |
88,508,338 (GRCm39) |
splice site |
probably null |
|
|
R4753:Zfp423
|
UTSW |
8 |
88,508,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4818:Zfp423
|
UTSW |
8 |
88,631,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5026:Zfp423
|
UTSW |
8 |
88,507,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Zfp423
|
UTSW |
8 |
88,509,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Zfp423
|
UTSW |
8 |
88,500,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5284:Zfp423
|
UTSW |
8 |
88,508,305 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5586:Zfp423
|
UTSW |
8 |
88,585,968 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5601:Zfp423
|
UTSW |
8 |
88,508,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Zfp423
|
UTSW |
8 |
88,508,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5717:Zfp423
|
UTSW |
8 |
88,413,187 (GRCm39) |
splice site |
probably null |
|
|
R5801:Zfp423
|
UTSW |
8 |
88,585,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Zfp423
|
UTSW |
8 |
88,508,860 (GRCm39) |
nonsense |
probably null |
|
|
R5985:Zfp423
|
UTSW |
8 |
88,508,774 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6111:Zfp423
|
UTSW |
8 |
88,509,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6306:Zfp423
|
UTSW |
8 |
88,508,662 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6770:Zfp423
|
UTSW |
8 |
88,508,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6970:Zfp423
|
UTSW |
8 |
88,530,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7029:Zfp423
|
UTSW |
8 |
88,414,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7060:Zfp423
|
UTSW |
8 |
88,509,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Zfp423
|
UTSW |
8 |
88,509,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7121:Zfp423
|
UTSW |
8 |
88,507,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Zfp423
|
UTSW |
8 |
88,631,155 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7359:Zfp423
|
UTSW |
8 |
88,508,871 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7426:Zfp423
|
UTSW |
8 |
88,507,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Zfp423
|
UTSW |
8 |
88,414,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7640:Zfp423
|
UTSW |
8 |
88,507,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Zfp423
|
UTSW |
8 |
88,507,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7938:Zfp423
|
UTSW |
8 |
88,622,304 (GRCm39) |
missense |
unknown |
|
|
R7986:Zfp423
|
UTSW |
8 |
88,506,978 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8347:Zfp423
|
UTSW |
8 |
88,509,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8356:Zfp423
|
UTSW |
8 |
88,509,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Zfp423
|
UTSW |
8 |
88,509,338 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8710:Zfp423
|
UTSW |
8 |
88,507,549 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8794:Zfp423
|
UTSW |
8 |
88,507,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Zfp423
|
UTSW |
8 |
88,507,827 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9018:Zfp423
|
UTSW |
8 |
88,508,381 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9182:Zfp423
|
UTSW |
8 |
88,508,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9309:Zfp423
|
UTSW |
8 |
88,509,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9312:Zfp423
|
UTSW |
8 |
88,508,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Zfp423
|
UTSW |
8 |
88,508,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Zfp423
|
UTSW |
8 |
88,509,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9480:Zfp423
|
UTSW |
8 |
88,631,115 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9483:Zfp423
|
UTSW |
8 |
88,507,725 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9510:Zfp423
|
UTSW |
8 |
88,510,041 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9521:Zfp423
|
UTSW |
8 |
88,509,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9606:Zfp423
|
UTSW |
8 |
88,414,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9789:Zfp423
|
UTSW |
8 |
88,506,877 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Zfp423
|
UTSW |
8 |
88,586,048 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1177:Zfp423
|
UTSW |
8 |
88,507,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAATGCGCCTGTTGGATG -3'
(R):5'- AGACTCCACCTTGAAGCCACTGAG -3'
Sequencing Primer
(F):5'- GTGCTCTGTGAGCGAGGAC -3'
(R):5'- TTCTAAGCGGGACTTTACCAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation