Incidental Mutation 'R1230:Zfp62'
ID |
152272 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp62
|
Ensembl Gene |
ENSMUSG00000046311 |
Gene Name |
zinc finger protein 62 |
Synonyms |
|
MMRRC Submission |
039299-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R1230 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
49094119-49109643 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49105926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 6
(S6P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114147
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061757]
[ENSMUST00000109197]
[ENSMUST00000109198]
[ENSMUST00000133150]
[ENSMUST00000136539]
[ENSMUST00000136691]
[ENSMUST00000150284]
[ENSMUST00000180016]
[ENSMUST00000137061]
[ENSMUST00000151228]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061757
AA Change: S6P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056226 Gene: ENSMUSG00000046311 AA Change: S6P
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
124 |
146 |
7.26e-3 |
SMART |
ZnF_C2H2
|
152 |
174 |
7.26e-3 |
SMART |
ZnF_C2H2
|
180 |
202 |
2.75e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
2.71e-2 |
SMART |
ZnF_C2H2
|
236 |
258 |
7.37e-4 |
SMART |
ZnF_C2H2
|
264 |
286 |
2.27e-4 |
SMART |
ZnF_C2H2
|
292 |
314 |
4.11e-2 |
SMART |
ZnF_C2H2
|
320 |
342 |
1.03e-2 |
SMART |
ZnF_C2H2
|
348 |
370 |
4.54e-4 |
SMART |
ZnF_C2H2
|
376 |
398 |
4.47e-3 |
SMART |
ZnF_C2H2
|
404 |
426 |
4.4e-2 |
SMART |
ZnF_C2H2
|
432 |
454 |
2.43e-4 |
SMART |
ZnF_C2H2
|
460 |
482 |
1.38e-3 |
SMART |
ZnF_C2H2
|
488 |
510 |
2.79e-4 |
SMART |
ZnF_C2H2
|
516 |
538 |
5.9e-3 |
SMART |
ZnF_C2H2
|
544 |
566 |
3.39e-3 |
SMART |
ZnF_C2H2
|
572 |
594 |
3.89e-3 |
SMART |
ZnF_C2H2
|
600 |
622 |
5.5e-3 |
SMART |
ZnF_C2H2
|
628 |
650 |
2.75e-3 |
SMART |
ZnF_C2H2
|
656 |
678 |
3.63e-3 |
SMART |
ZnF_C2H2
|
684 |
706 |
7.9e-4 |
SMART |
ZnF_C2H2
|
712 |
734 |
8.34e-3 |
SMART |
ZnF_C2H2
|
740 |
762 |
1.98e-4 |
SMART |
ZnF_C2H2
|
768 |
790 |
1.53e-1 |
SMART |
ZnF_C2H2
|
796 |
817 |
1.16e1 |
SMART |
ZnF_C2H2
|
823 |
845 |
5.99e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109197
AA Change: S6P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104820 Gene: ENSMUSG00000046311 AA Change: S6P
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
124 |
146 |
7.26e-3 |
SMART |
ZnF_C2H2
|
152 |
174 |
7.26e-3 |
SMART |
ZnF_C2H2
|
180 |
202 |
2.75e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
2.71e-2 |
SMART |
ZnF_C2H2
|
236 |
258 |
7.37e-4 |
SMART |
ZnF_C2H2
|
264 |
286 |
2.27e-4 |
SMART |
ZnF_C2H2
|
292 |
314 |
4.11e-2 |
SMART |
ZnF_C2H2
|
320 |
342 |
1.03e-2 |
SMART |
ZnF_C2H2
|
348 |
370 |
4.54e-4 |
SMART |
ZnF_C2H2
|
376 |
398 |
4.47e-3 |
SMART |
ZnF_C2H2
|
404 |
426 |
4.4e-2 |
SMART |
ZnF_C2H2
|
432 |
454 |
2.43e-4 |
SMART |
ZnF_C2H2
|
460 |
482 |
1.38e-3 |
SMART |
ZnF_C2H2
|
488 |
510 |
2.79e-4 |
SMART |
ZnF_C2H2
|
516 |
538 |
5.9e-3 |
SMART |
ZnF_C2H2
|
544 |
566 |
3.39e-3 |
SMART |
ZnF_C2H2
|
572 |
594 |
3.89e-3 |
SMART |
ZnF_C2H2
|
600 |
622 |
5.5e-3 |
SMART |
ZnF_C2H2
|
628 |
650 |
2.75e-3 |
SMART |
ZnF_C2H2
|
656 |
678 |
3.63e-3 |
SMART |
ZnF_C2H2
|
684 |
706 |
7.9e-4 |
SMART |
ZnF_C2H2
|
712 |
734 |
8.34e-3 |
SMART |
ZnF_C2H2
|
740 |
762 |
1.98e-4 |
SMART |
ZnF_C2H2
|
768 |
790 |
1.53e-1 |
SMART |
ZnF_C2H2
|
796 |
817 |
1.16e1 |
SMART |
ZnF_C2H2
|
823 |
845 |
5.99e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109198
AA Change: S6P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104821 Gene: ENSMUSG00000046311 AA Change: S6P
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
124 |
146 |
7.26e-3 |
SMART |
ZnF_C2H2
|
152 |
174 |
7.26e-3 |
SMART |
ZnF_C2H2
|
180 |
202 |
2.75e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
2.71e-2 |
SMART |
ZnF_C2H2
|
236 |
258 |
7.37e-4 |
SMART |
ZnF_C2H2
|
264 |
286 |
2.27e-4 |
SMART |
ZnF_C2H2
|
292 |
314 |
4.11e-2 |
SMART |
ZnF_C2H2
|
320 |
342 |
1.03e-2 |
SMART |
ZnF_C2H2
|
348 |
370 |
4.54e-4 |
SMART |
ZnF_C2H2
|
376 |
398 |
4.47e-3 |
SMART |
ZnF_C2H2
|
404 |
426 |
4.4e-2 |
SMART |
ZnF_C2H2
|
432 |
454 |
2.43e-4 |
SMART |
ZnF_C2H2
|
460 |
482 |
1.38e-3 |
SMART |
ZnF_C2H2
|
488 |
510 |
2.79e-4 |
SMART |
ZnF_C2H2
|
516 |
538 |
5.9e-3 |
SMART |
ZnF_C2H2
|
544 |
566 |
3.39e-3 |
SMART |
ZnF_C2H2
|
572 |
594 |
3.89e-3 |
SMART |
ZnF_C2H2
|
600 |
622 |
5.5e-3 |
SMART |
ZnF_C2H2
|
628 |
650 |
2.75e-3 |
SMART |
ZnF_C2H2
|
656 |
678 |
3.63e-3 |
SMART |
ZnF_C2H2
|
684 |
706 |
7.9e-4 |
SMART |
ZnF_C2H2
|
712 |
734 |
8.34e-3 |
SMART |
ZnF_C2H2
|
740 |
762 |
1.98e-4 |
SMART |
ZnF_C2H2
|
768 |
790 |
1.53e-1 |
SMART |
ZnF_C2H2
|
796 |
817 |
1.16e1 |
SMART |
ZnF_C2H2
|
823 |
845 |
5.99e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128932
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133150
AA Change: S6P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136539
AA Change: S6P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116045 Gene: ENSMUSG00000046311 AA Change: S6P
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
124 |
146 |
7.26e-3 |
SMART |
ZnF_C2H2
|
152 |
174 |
7.26e-3 |
SMART |
ZnF_C2H2
|
180 |
202 |
2.75e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
2.71e-2 |
SMART |
ZnF_C2H2
|
236 |
258 |
7.37e-4 |
SMART |
ZnF_C2H2
|
264 |
286 |
2.27e-4 |
SMART |
ZnF_C2H2
|
292 |
314 |
4.11e-2 |
SMART |
ZnF_C2H2
|
320 |
342 |
1.03e-2 |
SMART |
ZnF_C2H2
|
348 |
370 |
4.54e-4 |
SMART |
ZnF_C2H2
|
376 |
398 |
4.47e-3 |
SMART |
ZnF_C2H2
|
404 |
426 |
4.4e-2 |
SMART |
ZnF_C2H2
|
432 |
454 |
2.43e-4 |
SMART |
ZnF_C2H2
|
460 |
482 |
1.38e-3 |
SMART |
ZnF_C2H2
|
488 |
510 |
2.79e-4 |
SMART |
ZnF_C2H2
|
516 |
538 |
5.9e-3 |
SMART |
ZnF_C2H2
|
544 |
566 |
3.39e-3 |
SMART |
ZnF_C2H2
|
572 |
594 |
3.89e-3 |
SMART |
ZnF_C2H2
|
600 |
622 |
5.5e-3 |
SMART |
ZnF_C2H2
|
628 |
650 |
2.75e-3 |
SMART |
ZnF_C2H2
|
656 |
678 |
3.63e-3 |
SMART |
ZnF_C2H2
|
684 |
706 |
7.9e-4 |
SMART |
ZnF_C2H2
|
712 |
734 |
8.34e-3 |
SMART |
ZnF_C2H2
|
740 |
762 |
1.98e-4 |
SMART |
ZnF_C2H2
|
768 |
790 |
1.53e-1 |
SMART |
ZnF_C2H2
|
796 |
817 |
1.16e1 |
SMART |
ZnF_C2H2
|
823 |
845 |
5.99e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136691
AA Change: S6P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150284
AA Change: S6P
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180016
AA Change: S6P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000137583 Gene: ENSMUSG00000046311 AA Change: S6P
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
124 |
146 |
7.26e-3 |
SMART |
ZnF_C2H2
|
152 |
174 |
7.26e-3 |
SMART |
ZnF_C2H2
|
180 |
202 |
2.75e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
2.71e-2 |
SMART |
ZnF_C2H2
|
236 |
258 |
7.37e-4 |
SMART |
ZnF_C2H2
|
264 |
286 |
2.27e-4 |
SMART |
ZnF_C2H2
|
292 |
314 |
4.11e-2 |
SMART |
ZnF_C2H2
|
320 |
342 |
1.03e-2 |
SMART |
ZnF_C2H2
|
348 |
370 |
4.54e-4 |
SMART |
ZnF_C2H2
|
376 |
398 |
4.47e-3 |
SMART |
ZnF_C2H2
|
404 |
426 |
4.4e-2 |
SMART |
ZnF_C2H2
|
432 |
454 |
2.43e-4 |
SMART |
ZnF_C2H2
|
460 |
482 |
1.38e-3 |
SMART |
ZnF_C2H2
|
488 |
510 |
2.79e-4 |
SMART |
ZnF_C2H2
|
516 |
538 |
5.9e-3 |
SMART |
ZnF_C2H2
|
544 |
566 |
3.39e-3 |
SMART |
ZnF_C2H2
|
572 |
594 |
3.89e-3 |
SMART |
ZnF_C2H2
|
600 |
622 |
5.5e-3 |
SMART |
ZnF_C2H2
|
628 |
650 |
2.75e-3 |
SMART |
ZnF_C2H2
|
656 |
678 |
3.63e-3 |
SMART |
ZnF_C2H2
|
684 |
706 |
7.9e-4 |
SMART |
ZnF_C2H2
|
712 |
734 |
8.34e-3 |
SMART |
ZnF_C2H2
|
740 |
762 |
1.98e-4 |
SMART |
ZnF_C2H2
|
768 |
790 |
1.53e-1 |
SMART |
ZnF_C2H2
|
796 |
817 |
1.16e1 |
SMART |
ZnF_C2H2
|
823 |
845 |
5.99e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137061
AA Change: S6P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151228
AA Change: S6P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000117774 Gene: ENSMUSG00000046311 AA Change: S6P
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
124 |
146 |
7.26e-3 |
SMART |
ZnF_C2H2
|
152 |
174 |
7.26e-3 |
SMART |
Pfam:zf-C2H2_6
|
179 |
195 |
2.3e-3 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157023
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc88c |
A |
T |
12: 100,914,747 (GRCm39) |
Y496N |
probably benign |
Het |
Cyp11b1 |
A |
G |
15: 74,712,791 (GRCm39) |
I90T |
probably benign |
Het |
Cyp4f14 |
C |
A |
17: 33,135,762 (GRCm39) |
R33L |
probably benign |
Het |
Dcc |
G |
A |
18: 71,815,384 (GRCm39) |
P330L |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,205,921 (GRCm39) |
N64D |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Ecm1 |
A |
T |
3: 95,642,738 (GRCm39) |
|
probably null |
Het |
Enam |
A |
G |
5: 88,641,927 (GRCm39) |
Y247C |
probably damaging |
Het |
Ess2 |
C |
T |
16: 17,727,814 (GRCm39) |
V122M |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,887 (GRCm39) |
D346G |
possibly damaging |
Het |
Kdm5b |
T |
G |
1: 134,540,992 (GRCm39) |
C695G |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,838,840 (GRCm39) |
D449G |
probably damaging |
Het |
Mrps31 |
C |
T |
8: 22,909,759 (GRCm39) |
P142S |
possibly damaging |
Het |
Ppm1k |
T |
C |
6: 57,502,059 (GRCm39) |
T35A |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Vangl1 |
T |
A |
3: 102,065,609 (GRCm39) |
I509L |
probably benign |
Het |
Vcpip1 |
A |
G |
1: 9,795,449 (GRCm39) |
V974A |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,198,251 (GRCm39) |
E1212G |
probably damaging |
Het |
|
Other mutations in Zfp62 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03342:Zfp62
|
APN |
11 |
49,106,298 (GRCm39) |
nonsense |
probably null |
|
R0416:Zfp62
|
UTSW |
11 |
49,106,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Zfp62
|
UTSW |
11 |
49,106,227 (GRCm39) |
missense |
probably benign |
|
R0607:Zfp62
|
UTSW |
11 |
49,106,227 (GRCm39) |
missense |
probably benign |
|
R1119:Zfp62
|
UTSW |
11 |
49,107,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R1644:Zfp62
|
UTSW |
11 |
49,106,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R1710:Zfp62
|
UTSW |
11 |
49,108,510 (GRCm39) |
missense |
probably benign |
|
R1840:Zfp62
|
UTSW |
11 |
49,107,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Zfp62
|
UTSW |
11 |
49,107,047 (GRCm39) |
missense |
probably damaging |
0.99 |
R3878:Zfp62
|
UTSW |
11 |
49,105,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R4571:Zfp62
|
UTSW |
11 |
49,106,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R4571:Zfp62
|
UTSW |
11 |
49,106,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R4580:Zfp62
|
UTSW |
11 |
49,107,099 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4631:Zfp62
|
UTSW |
11 |
49,108,632 (GRCm39) |
makesense |
probably null |
|
R5022:Zfp62
|
UTSW |
11 |
49,106,556 (GRCm39) |
missense |
probably damaging |
0.96 |
R5023:Zfp62
|
UTSW |
11 |
49,106,556 (GRCm39) |
missense |
probably damaging |
0.96 |
R5289:Zfp62
|
UTSW |
11 |
49,107,975 (GRCm39) |
missense |
probably damaging |
0.98 |
R5362:Zfp62
|
UTSW |
11 |
49,107,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R5685:Zfp62
|
UTSW |
11 |
49,107,044 (GRCm39) |
nonsense |
probably null |
|
R6420:Zfp62
|
UTSW |
11 |
49,107,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R6764:Zfp62
|
UTSW |
11 |
49,105,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R7000:Zfp62
|
UTSW |
11 |
49,107,206 (GRCm39) |
nonsense |
probably null |
|
R7016:Zfp62
|
UTSW |
11 |
49,106,764 (GRCm39) |
missense |
probably damaging |
0.98 |
R7175:Zfp62
|
UTSW |
11 |
49,107,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R7670:Zfp62
|
UTSW |
11 |
49,105,903 (GRCm39) |
start gained |
probably benign |
|
R7675:Zfp62
|
UTSW |
11 |
49,106,847 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7686:Zfp62
|
UTSW |
11 |
49,107,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R7801:Zfp62
|
UTSW |
11 |
49,108,155 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8190:Zfp62
|
UTSW |
11 |
49,106,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R8390:Zfp62
|
UTSW |
11 |
49,106,019 (GRCm39) |
missense |
probably benign |
0.02 |
R8401:Zfp62
|
UTSW |
11 |
49,108,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R8479:Zfp62
|
UTSW |
11 |
49,107,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R8735:Zfp62
|
UTSW |
11 |
49,108,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R8809:Zfp62
|
UTSW |
11 |
49,107,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R8972:Zfp62
|
UTSW |
11 |
49,106,892 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9220:Zfp62
|
UTSW |
11 |
49,106,075 (GRCm39) |
missense |
probably benign |
0.17 |
R9261:Zfp62
|
UTSW |
11 |
49,108,350 (GRCm39) |
missense |
probably benign |
0.20 |
R9484:Zfp62
|
UTSW |
11 |
49,108,108 (GRCm39) |
missense |
probably damaging |
0.98 |
R9599:Zfp62
|
UTSW |
11 |
49,106,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9640:Zfp62
|
UTSW |
11 |
49,106,458 (GRCm39) |
missense |
probably benign |
0.21 |
R9781:Zfp62
|
UTSW |
11 |
49,106,297 (GRCm39) |
nonsense |
probably null |
|
X0011:Zfp62
|
UTSW |
11 |
49,106,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGCAACTCCCTGCCTGATTC -3'
(R):5'- GCTGCGTTTGTATGTGTGTCAATCAT -3'
Sequencing Primer
(F):5'- tcctccaagaaagcaaaaacac -3'
(R):5'- TGTGTCAATCATTTCTCTGATACTAC -3'
|
Posted On |
2014-01-29 |