Incidental Mutation 'R6436:Zfp646'
ID |
518778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp646
|
Ensembl Gene |
ENSMUSG00000049739 |
Gene Name |
zinc finger protein 646 |
Synonyms |
|
MMRRC Submission |
044574-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R6436 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127479113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 430
(V430E)
|
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 benign
Transcript: ENSMUST00000050383
AA Change: V430E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052641 Gene: ENSMUSG00000049739 AA Change: V430E
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 benign
Transcript: ENSMUST00000131000
AA Change: V430E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000115499 Gene: ENSMUSG00000049739 AA Change: V430E
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: V210E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150961
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205364
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arc |
C |
A |
15: 74,544,098 (GRCm39) |
V42L |
possibly damaging |
Het |
Clip1 |
C |
T |
5: 123,779,848 (GRCm39) |
E433K |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,225,723 (GRCm39) |
T3122A |
probably damaging |
Het |
Ctf2 |
G |
T |
7: 127,318,603 (GRCm39) |
A92E |
probably damaging |
Het |
Ctsw |
G |
T |
19: 5,516,322 (GRCm39) |
R184S |
possibly damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,061,918 (GRCm39) |
E629G |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,718,370 (GRCm39) |
V1523A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,090,446 (GRCm39) |
I982T |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,986,139 (GRCm39) |
D3G |
probably damaging |
Het |
Gm10770 |
G |
A |
2: 150,020,830 (GRCm39) |
T229I |
probably benign |
Het |
Gm35315 |
G |
A |
5: 110,226,578 (GRCm39) |
T287I |
probably benign |
Het |
Itgb3 |
T |
A |
11: 104,524,318 (GRCm39) |
D151E |
probably damaging |
Het |
Lcn8 |
A |
T |
2: 25,544,990 (GRCm39) |
|
probably null |
Het |
Ninl |
A |
G |
2: 150,808,098 (GRCm39) |
L310P |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,114,274 (GRCm39) |
D215G |
probably benign |
Het |
Or4d10c |
T |
C |
19: 12,065,299 (GRCm39) |
T286A |
probably benign |
Het |
Or6c3 |
A |
G |
10: 129,308,773 (GRCm39) |
T71A |
probably damaging |
Het |
Parg |
T |
C |
14: 31,993,634 (GRCm39) |
W289R |
probably damaging |
Het |
Pdcd4 |
A |
G |
19: 53,915,362 (GRCm39) |
|
probably null |
Het |
Plk2 |
G |
T |
13: 110,532,570 (GRCm39) |
E95* |
probably null |
Het |
Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,011,377 (GRCm39) |
D560G |
possibly damaging |
Het |
Rasal3 |
T |
C |
17: 32,616,478 (GRCm39) |
Y290C |
probably damaging |
Het |
Rcsd1 |
T |
A |
1: 165,485,184 (GRCm39) |
S90C |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,128,853 (GRCm39) |
L1935P |
probably damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Homo |
Tmc3 |
T |
C |
7: 83,247,695 (GRCm39) |
Y230H |
probably damaging |
Het |
Tnfrsf25 |
A |
T |
4: 152,204,084 (GRCm39) |
|
probably null |
Het |
Ubl7 |
T |
C |
9: 57,827,793 (GRCm39) |
L160P |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
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 |
|
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 |
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'- ATGGCGGCTCAGAGGAATATC -3'
(R):5'- GGACAAAGTGAACACTGGTACTC -3'
Sequencing Primer
(F):5'- GGCTCAGAGGAATATCGACCTTTC -3'
(R):5'- AAGTGAACACTGGTACTCTCCTG -3'
|
Posted On |
2018-05-24 |