Incidental Mutation 'IGL01669:Zfp646'
ID |
103412 |
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? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
IGL01669
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127478137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 105
(T105A)
|
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: T105A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052641 Gene: ENSMUSG00000049739 AA Change: T105A
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: T105A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115499 Gene: ENSMUSG00000049739 AA Change: T105A
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 |
noncoding transcript
Transcript: ENSMUST00000205364
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150961
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
Bnipl |
T |
G |
3: 95,150,045 (GRCm39) |
R316S |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
Cylc2 |
A |
G |
4: 51,228,360 (GRCm39) |
T144A |
probably benign |
Het |
Cyp2c50 |
A |
T |
19: 40,086,495 (GRCm39) |
H294L |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
Galk2 |
T |
A |
2: 125,729,807 (GRCm39) |
Y63N |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
Irf4 |
G |
T |
13: 30,941,454 (GRCm39) |
S270I |
probably damaging |
Het |
Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,492,111 (GRCm39) |
V133A |
probably damaging |
Het |
Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
Smgc |
T |
A |
15: 91,744,882 (GRCm39) |
S381T |
possibly damaging |
Het |
Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
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 |
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 |
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 |
2014-01-21 |