Incidental Mutation 'R4346:Zfp646'
| ID |
324333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp646
|
| Ensembl Gene |
ENSMUSG00000049739 |
| Gene Name |
zinc finger protein 646 |
| Synonyms |
|
| MMRRC Submission |
041667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R4346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127478681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 286
(Y286C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050383]
[ENSMUST00000054415]
[ENSMUST00000106261]
[ENSMUST00000106262]
[ENSMUST00000106263]
[ENSMUST00000131000]
[ENSMUST00000144721]
|
| AlphaFold |
Q6NV66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050383
AA Change: Y286C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: Y286C
| 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: Y286C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739
AA Change: Y286C
| 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: Y66C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205364
|
| Meta Mutation Damage Score |
0.5680 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
G |
A |
2: 154,887,651 (GRCm39) |
R37Q |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,583,264 (GRCm39) |
T128A |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,072 (GRCm39) |
Q1763L |
possibly damaging |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,263,759 (GRCm39) |
C730* |
probably null |
Het |
| Fbxo40 |
T |
C |
16: 36,790,525 (GRCm39) |
E195G |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Gba2 |
A |
G |
4: 43,571,337 (GRCm39) |
V204A |
probably benign |
Het |
| Igkv8-28 |
C |
T |
6: 70,121,096 (GRCm39) |
|
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,988,357 (GRCm39) |
M308T |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,806 (GRCm39) |
N874S |
probably benign |
Het |
| Med12l |
A |
T |
3: 58,938,976 (GRCm39) |
T37S |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,251,357 (GRCm39) |
Y57C |
probably damaging |
Het |
| Or5b94 |
A |
G |
19: 12,651,592 (GRCm39) |
T8A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,954,941 (GRCm39) |
V607A |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,095,478 (GRCm39) |
D409G |
probably damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,580 (GRCm39) |
T93I |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,044,705 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,878 (GRCm39) |
V29M |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,304,692 (GRCm39) |
I221V |
probably benign |
Het |
| Tnfrsf19 |
C |
A |
14: 61,209,429 (GRCm39) |
|
probably null |
Het |
| Ttll11 |
T |
C |
2: 35,674,130 (GRCm39) |
N599S |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,638,926 (GRCm39) |
I13919L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,577,537 (GRCm39) |
F334L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,799,099 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02571:Zfp646
|
APN |
7 |
127,478,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGAGCCTCTTCCTACTGAG -3'
(R):5'- ATCTTCTAGCTGTCCAGAAGAGC -3'
Sequencing Primer
(F):5'- TCTTCCTACTGAGGGGGAGC -3'
(R):5'- AGAACCATTCAACATCCCTGTTTTAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation