Incidental Mutation 'R6903:Zfp646'
| ID |
538640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp646
|
| Ensembl Gene |
ENSMUSG00000049739 |
| Gene Name |
zinc finger protein 646 |
| Synonyms |
|
| MMRRC Submission |
044996-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R6903 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127479892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 690
(E690K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050383]
[ENSMUST00000054415]
[ENSMUST00000106262]
[ENSMUST00000106263]
[ENSMUST00000131000]
|
| AlphaFold |
Q6NV66 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050383
AA Change: E690K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: E690K
| 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: 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 benign
Transcript: ENSMUST00000131000
|
| SMART Domains |
Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739
| 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 |
|
| Meta Mutation Damage Score |
0.1360 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,143,952 (GRCm39) |
L15Q |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,450,417 (GRCm39) |
M497V |
probably benign |
Het |
| Adnp2 |
T |
C |
18: 80,173,305 (GRCm39) |
N368S |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,097,131 (GRCm39) |
T656A |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,192,183 (GRCm39) |
Y26C |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,443,675 (GRCm39) |
F306L |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,885 (GRCm39) |
Q143R |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,234,477 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,371,148 (GRCm39) |
N436D |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,721,929 (GRCm39) |
E1498G |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,096,424 (GRCm39) |
D118G |
probably benign |
Het |
| Dek |
A |
G |
13: 47,251,663 (GRCm39) |
S51P |
possibly damaging |
Het |
| Dock6 |
C |
T |
9: 21,720,860 (GRCm39) |
G1746D |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,621,988 (GRCm39) |
N488Y |
probably damaging |
Het |
| Ebpl |
G |
T |
14: 61,597,693 (GRCm39) |
Y49* |
probably null |
Het |
| Eefsec |
C |
T |
6: 88,423,265 (GRCm39) |
G66D |
probably benign |
Het |
| Epha6 |
T |
A |
16: 60,346,825 (GRCm39) |
Y146F |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,267 (GRCm39) |
R96G |
probably damaging |
Het |
| Gm5814 |
A |
G |
17: 47,721,352 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
C |
G |
16: 75,554,872 (GRCm39) |
V405L |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,797,565 (GRCm39) |
V1079A |
probably damaging |
Het |
| Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
| Kdm1b |
T |
A |
13: 47,227,880 (GRCm39) |
D620E |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,834,436 (GRCm39) |
R442G |
possibly damaging |
Het |
| Nectin1 |
C |
A |
9: 43,703,179 (GRCm39) |
P146T |
possibly damaging |
Het |
| Noc4l |
A |
G |
5: 110,797,461 (GRCm39) |
I391T |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,362,452 (GRCm39) |
R956L |
possibly damaging |
Het |
| Or11g7 |
T |
A |
14: 50,691,412 (GRCm39) |
M301K |
possibly damaging |
Het |
| Or11j4 |
T |
A |
14: 50,631,089 (GRCm39) |
M292K |
possibly damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,825,223 (GRCm39) |
V738A |
possibly damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,336,461 (GRCm39) |
E100G |
probably damaging |
Het |
| Rgs10 |
A |
G |
7: 127,990,797 (GRCm39) |
F97S |
probably damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,982 (GRCm39) |
|
probably null |
Het |
| Shld1 |
A |
T |
2: 132,592,564 (GRCm39) |
K204* |
probably null |
Het |
| Sirpb1a |
T |
C |
3: 15,481,984 (GRCm39) |
T115A |
probably damaging |
Het |
| Supv3l1 |
A |
G |
10: 62,277,016 (GRCm39) |
C251R |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,998,543 (GRCm39) |
S244G |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,862 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tnfrsf22 |
G |
A |
7: 143,193,641 (GRCm39) |
|
probably benign |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,160 (GRCm39) |
I115T |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,058,552 (GRCm39) |
T703A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,454,566 (GRCm39) |
I1413L |
unknown |
Het |
| Zc3h12d |
G |
T |
10: 7,743,425 (GRCm39) |
M398I |
probably benign |
Het |
| Zfp219 |
G |
A |
14: 52,244,118 (GRCm39) |
T642M |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,136,541 (GRCm39) |
V66D |
unknown |
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 |
|
|
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 |
|
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'- CAGGAGACTTCAGTTGTGGG -3'
(R):5'- ATTGCACTCATCACCTGGGG -3'
Sequencing Primer
(F):5'- AGACTTCAGTTGTGGGGCCTG -3'
(R):5'- TGCCTAGGTCGTCAAGGAAAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation