Incidental Mutation 'IGL02571:Zfp646'
| ID |
299004 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp646
|
| Ensembl Gene |
ENSMUSG00000049739 |
| Gene Name |
zinc finger protein 646 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
IGL02571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127478584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 254
(T254A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050383]
[ENSMUST00000054415]
[ENSMUST00000106261]
[ENSMUST00000106262]
[ENSMUST00000106263]
[ENSMUST00000131000]
[ENSMUST00000144721]
|
| AlphaFold |
Q6NV66 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050383
AA Change: T254A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
8 |
31 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
67 |
89 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
2.24e-3 |
SMART |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
366 |
388 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
566 |
588 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
633 |
655 |
1.53e-1 |
SMART |
|
low complexity region
|
737 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
797 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
806 |
828 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
833 |
855 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
866 |
889 |
1.16e-1 |
SMART |
|
low complexity region
|
890 |
911 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
941 |
961 |
9.31e1 |
SMART |
|
ZnF_C2H2
|
1035 |
1057 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
1062 |
1084 |
3.39e-3 |
SMART |
|
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1170 |
1192 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
1197 |
1219 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
1225 |
1247 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
1266 |
1286 |
5.12e1 |
SMART |
|
ZnF_C2H2
|
1293 |
1315 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
1333 |
1355 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
1550 |
1572 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
1640 |
1662 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
1667 |
1689 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
1695 |
1717 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
1724 |
1746 |
1.45e-2 |
SMART |
|
low complexity region
|
1751 |
1764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054415
|
| SMART Domains |
Protein: ENSMUSP00000056105
Gene: ENSMUSG00000049728
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
22 |
44 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
84 |
106 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
112 |
134 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
196 |
218 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
5.5e-3 |
SMART |
|
low complexity region
|
428 |
470 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
516 |
538 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
544 |
566 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
572 |
594 |
5.59e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106261
|
| SMART Domains |
Protein: ENSMUSP00000101868
Gene: ENSMUSG00000049728
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
22 |
44 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
84 |
106 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
112 |
134 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
196 |
218 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
5.5e-3 |
SMART |
|
low complexity region
|
428 |
470 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
516 |
538 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
544 |
566 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
572 |
594 |
5.59e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106262
|
| SMART Domains |
Protein: ENSMUSP00000101869
Gene: ENSMUSG00000049728
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
22 |
44 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
84 |
106 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
112 |
134 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
196 |
218 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
5.5e-3 |
SMART |
|
low complexity region
|
428 |
470 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
516 |
538 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
544 |
566 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
572 |
594 |
5.59e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106263
|
| SMART Domains |
Protein: ENSMUSP00000101870
Gene: ENSMUSG00000049728
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
22 |
44 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
84 |
106 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
112 |
134 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
196 |
218 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
5.5e-3 |
SMART |
|
low complexity region
|
428 |
470 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
516 |
538 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
544 |
566 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
572 |
594 |
5.59e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131000
AA Change: T254A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
8 |
31 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
67 |
89 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
2.24e-3 |
SMART |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
366 |
388 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
4.87e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144721
|
| SMART Domains |
Protein: ENSMUSP00000116730
Gene: ENSMUSG00000049728
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
22 |
44 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
84 |
106 |
9.44e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206340
AA Change: T34A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150961
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
T |
C |
14: 60,249,907 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,845 (GRCm39) |
E885K |
possibly damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,878 (GRCm39) |
E352G |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,055,766 (GRCm39) |
W373R |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,072 (GRCm39) |
R148L |
probably damaging |
Het |
| Gem |
C |
A |
4: 11,713,628 (GRCm39) |
Q255K |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,341,887 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,803,134 (GRCm39) |
N2161I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,415,235 (GRCm39) |
F1325L |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,132,016 (GRCm39) |
K267R |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,178 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,219,592 (GRCm39) |
|
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,376,258 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,949,841 (GRCm39) |
D74G |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,536,519 (GRCm39) |
G399D |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,319,453 (GRCm39) |
I536T |
probably damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,250 (GRCm39) |
S192R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,798,023 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rubcnl |
A |
T |
14: 75,269,576 (GRCm39) |
Q78L |
possibly damaging |
Het |
| Sis |
C |
A |
3: 72,863,637 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,628,370 (GRCm39) |
M320V |
probably benign |
Het |
| Vmn1r178 |
C |
T |
7: 23,593,660 (GRCm39) |
T236I |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,481,053 (GRCm39) |
D273G |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,394,583 (GRCm39) |
N1033T |
probably damaging |
Het |
|
| Other mutations in Zfp646 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Zfp646
|
APN |
7 |
127,478,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01669:Zfp646
|
APN |
7 |
127,478,137 (GRCm39) |
missense |
probably benign |
|
|
R0009:Zfp646
|
UTSW |
7 |
127,479,903 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0084:Zfp646
|
UTSW |
7 |
127,480,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0140:Zfp646
|
UTSW |
7 |
127,482,678 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0394:Zfp646
|
UTSW |
7 |
127,482,434 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0571:Zfp646
|
UTSW |
7 |
127,481,138 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0924:Zfp646
|
UTSW |
7 |
127,482,982 (GRCm39) |
nonsense |
probably null |
|
|
R0930:Zfp646
|
UTSW |
7 |
127,482,982 (GRCm39) |
nonsense |
probably null |
|
|
R1219:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
|
R1221:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
|
R1351:Zfp646
|
UTSW |
7 |
127,482,683 (GRCm39) |
missense |
probably benign |
|
|
R1370:Zfp646
|
UTSW |
7 |
127,479,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Zfp646
|
UTSW |
7 |
127,479,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Zfp646
|
UTSW |
7 |
127,479,359 (GRCm39) |
splice site |
probably null |
|
|
R1817:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
|
R1818:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
|
R1819:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
|
R1838:Zfp646
|
UTSW |
7 |
127,478,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Zfp646
|
UTSW |
7 |
127,483,021 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2100:Zfp646
|
UTSW |
7 |
127,481,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2763:Zfp646
|
UTSW |
7 |
127,479,210 (GRCm39) |
nonsense |
probably null |
|
|
R4346:Zfp646
|
UTSW |
7 |
127,478,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Zfp646
|
UTSW |
7 |
127,482,649 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4824:Zfp646
|
UTSW |
7 |
127,482,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4936:Zfp646
|
UTSW |
7 |
127,480,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4937:Zfp646
|
UTSW |
7 |
127,478,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5062:Zfp646
|
UTSW |
7 |
127,479,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5424:Zfp646
|
UTSW |
7 |
127,481,875 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5610:Zfp646
|
UTSW |
7 |
127,478,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Zfp646
|
UTSW |
7 |
127,484,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6112:Zfp646
|
UTSW |
7 |
127,478,190 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6161:Zfp646
|
UTSW |
7 |
127,477,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Zfp646
|
UTSW |
7 |
127,483,079 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6331:Zfp646
|
UTSW |
7 |
127,482,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6436:Zfp646
|
UTSW |
7 |
127,479,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6814:Zfp646
|
UTSW |
7 |
127,482,505 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6872:Zfp646
|
UTSW |
7 |
127,482,505 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6903:Zfp646
|
UTSW |
7 |
127,479,892 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7018:Zfp646
|
UTSW |
7 |
127,481,494 (GRCm39) |
missense |
probably benign |
|
|
R7049:Zfp646
|
UTSW |
7 |
127,479,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7121:Zfp646
|
UTSW |
7 |
127,478,944 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7405:Zfp646
|
UTSW |
7 |
127,477,968 (GRCm39) |
nonsense |
probably null |
|
|
R8345:Zfp646
|
UTSW |
7 |
127,483,082 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8545:Zfp646
|
UTSW |
7 |
127,484,662 (GRCm39) |
missense |
probably benign |
|
|
R8909:Zfp646
|
UTSW |
7 |
127,478,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8983:Zfp646
|
UTSW |
7 |
127,480,777 (GRCm39) |
missense |
probably benign |
|
|
R9001:Zfp646
|
UTSW |
7 |
127,478,856 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9018:Zfp646
|
UTSW |
7 |
127,478,243 (GRCm39) |
missense |
probably benign |
|
|
R9118:Zfp646
|
UTSW |
7 |
127,480,810 (GRCm39) |
missense |
|
|
|
R9414:Zfp646
|
UTSW |
7 |
127,481,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Zfp646
|
UTSW |
7 |
127,479,804 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Posted On |
2015-04-16 |
Incidental Mutation