Incidental Mutation 'R0009:Zfp646'
ID |
40473 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp646
|
Ensembl Gene |
ENSMUSG00000049739 |
Gene Name |
zinc finger protein 646 |
Synonyms |
|
MMRRC Submission |
038304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R0009 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127876221-127885996 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127880731 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 693
(D693E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050383]
[ENSMUST00000054415]
[ENSMUST00000106262]
[ENSMUST00000106263]
[ENSMUST00000131000]
|
AlphaFold |
Q6NV66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050383
AA Change: D693E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052641 Gene: ENSMUSG00000049739 AA Change: D693E
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 |
noncoding transcript
Transcript: ENSMUST00000150961
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205364
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206340
AA Change: D473E
|
Meta Mutation Damage Score |
0.6467  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
G |
15: 60,919,633 |
|
probably benign |
Het |
Abcg4 |
T |
G |
9: 44,277,649 |
|
probably benign |
Het |
Afm |
C |
A |
5: 90,545,384 |
|
probably benign |
Het |
Ahrr |
G |
A |
13: 74,283,024 |
|
probably benign |
Het |
Aplnr |
T |
A |
2: 85,137,276 |
|
probably null |
Het |
Arih2 |
T |
A |
9: 108,611,727 |
H264L |
probably damaging |
Het |
Atp1a1 |
A |
T |
3: 101,579,835 |
I886N |
possibly damaging |
Het |
Bmf |
A |
T |
2: 118,549,622 |
V14E |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 17,144,039 |
E15G |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,135,965 |
N427D |
possibly damaging |
Het |
Cfap53 |
A |
G |
18: 74,299,176 |
H45R |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,349,906 |
L1569P |
probably damaging |
Het |
Cntn2 |
G |
A |
1: 132,516,180 |
Q457* |
probably null |
Het |
Coro1a |
A |
T |
7: 126,701,413 |
|
probably benign |
Het |
Cracr2b |
T |
A |
7: 141,463,759 |
L91Q |
probably damaging |
Het |
Ctdspl |
T |
C |
9: 119,020,046 |
|
probably null |
Het |
Dip2b |
T |
A |
15: 100,169,312 |
L565Q |
probably damaging |
Het |
Dip2c |
T |
A |
13: 9,621,903 |
C1004S |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,045,522 |
I2135N |
possibly damaging |
Het |
Dnah14 |
A |
G |
1: 181,769,407 |
|
probably benign |
Het |
Dnase1 |
T |
C |
16: 4,038,946 |
V147A |
probably damaging |
Het |
Dusp8 |
T |
C |
7: 142,082,054 |
|
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,662,787 |
Y1828H |
probably damaging |
Het |
Flvcr1 |
A |
G |
1: 191,008,191 |
V544A |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,687,209 |
V311A |
probably benign |
Het |
Glud1 |
G |
A |
14: 34,334,268 |
G300S |
probably benign |
Het |
Gm4847 |
C |
T |
1: 166,630,486 |
V433I |
probably benign |
Het |
Gstm3 |
T |
G |
3: 107,967,840 |
Y62S |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,862,435 |
P151S |
probably benign |
Het |
Herc2 |
T |
C |
7: 56,207,812 |
S4048P |
probably benign |
Het |
Hp1bp3 |
T |
A |
4: 138,221,683 |
I19K |
probably benign |
Het |
Htr7 |
C |
A |
19: 36,041,540 |
|
probably benign |
Het |
Il1a |
C |
T |
2: 129,309,074 |
D10N |
probably damaging |
Het |
Il22ra2 |
A |
T |
10: 19,624,458 |
N39I |
probably damaging |
Het |
Kcnn4 |
T |
C |
7: 24,379,255 |
C267R |
possibly damaging |
Het |
Larp1 |
A |
G |
11: 58,055,473 |
K879R |
possibly damaging |
Het |
Lcn5 |
T |
A |
2: 25,661,405 |
|
probably benign |
Het |
Lep |
T |
A |
6: 29,068,972 |
C7* |
probably null |
Het |
Magi2 |
A |
T |
5: 20,611,055 |
Y747F |
probably benign |
Het |
Mast4 |
T |
C |
13: 102,742,058 |
T1223A |
probably damaging |
Het |
Mcc |
C |
T |
18: 44,445,933 |
E803K |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,611,508 |
I796T |
probably benign |
Het |
Myef2 |
A |
T |
2: 125,108,978 |
D312E |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,767,929 |
D119A |
probably damaging |
Het |
Myo19 |
T |
A |
11: 84,888,169 |
|
probably null |
Het |
Naa15 |
T |
G |
3: 51,470,219 |
H763Q |
probably damaging |
Het |
Pde5a |
C |
T |
3: 122,824,902 |
|
probably benign |
Het |
Plpp2 |
C |
T |
10: 79,527,244 |
R184H |
probably benign |
Het |
Rab19 |
T |
G |
6: 39,389,687 |
L179V |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,534,966 |
M1087K |
probably damaging |
Het |
Riox2 |
C |
A |
16: 59,489,367 |
D361E |
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,226,293 |
V123E |
probably damaging |
Het |
Slc35e1 |
A |
T |
8: 72,484,709 |
N318K |
probably damaging |
Het |
Slc9a2 |
A |
T |
1: 40,763,602 |
E604V |
probably benign |
Het |
Srp72 |
T |
C |
5: 76,987,885 |
S221P |
probably damaging |
Het |
Tbx19 |
A |
T |
1: 165,160,520 |
S15T |
possibly damaging |
Het |
Tcea2 |
A |
G |
2: 181,685,817 |
T112A |
probably benign |
Het |
Tesk1 |
T |
A |
4: 43,445,368 |
D230E |
probably damaging |
Het |
Tm4sf5 |
C |
T |
11: 70,510,712 |
A179V |
probably damaging |
Het |
Tnr |
G |
T |
1: 159,852,416 |
G320V |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,503,320 |
C874S |
possibly damaging |
Het |
Trpm3 |
T |
A |
19: 22,914,446 |
Y885N |
probably damaging |
Het |
Unc5a |
T |
A |
13: 55,002,879 |
C505S |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,265,717 |
A182T |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,204,786 |
|
probably benign |
Het |
Zfp637 |
C |
A |
6: 117,845,668 |
H252Q |
probably damaging |
Het |
|
Other mutations in Zfp646 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00930:Zfp646
|
APN |
7 |
127,879,130 (GRCm38) |
missense |
possibly damaging |
0.91 |
IGL01669:Zfp646
|
APN |
7 |
127,878,965 (GRCm38) |
missense |
probably benign |
|
IGL02571:Zfp646
|
APN |
7 |
127,879,412 (GRCm38) |
missense |
probably damaging |
1.00 |
R0084:Zfp646
|
UTSW |
7 |
127,881,304 (GRCm38) |
missense |
possibly damaging |
0.86 |
R0140:Zfp646
|
UTSW |
7 |
127,883,506 (GRCm38) |
missense |
probably benign |
0.41 |
R0394:Zfp646
|
UTSW |
7 |
127,883,262 (GRCm38) |
missense |
possibly damaging |
0.85 |
R0571:Zfp646
|
UTSW |
7 |
127,881,966 (GRCm38) |
missense |
probably damaging |
0.96 |
R0924:Zfp646
|
UTSW |
7 |
127,883,810 (GRCm38) |
nonsense |
probably null |
|
R0930:Zfp646
|
UTSW |
7 |
127,883,810 (GRCm38) |
nonsense |
probably null |
|
R1219:Zfp646
|
UTSW |
7 |
127,883,120 (GRCm38) |
missense |
probably benign |
|
R1221:Zfp646
|
UTSW |
7 |
127,883,120 (GRCm38) |
missense |
probably benign |
|
R1351:Zfp646
|
UTSW |
7 |
127,883,511 (GRCm38) |
missense |
probably benign |
|
R1370:Zfp646
|
UTSW |
7 |
127,879,864 (GRCm38) |
missense |
probably damaging |
1.00 |
R1503:Zfp646
|
UTSW |
7 |
127,880,136 (GRCm38) |
missense |
probably damaging |
1.00 |
R1605:Zfp646
|
UTSW |
7 |
127,880,187 (GRCm38) |
splice site |
probably null |
|
R1817:Zfp646
|
UTSW |
7 |
127,883,120 (GRCm38) |
missense |
probably benign |
|
R1818:Zfp646
|
UTSW |
7 |
127,883,120 (GRCm38) |
missense |
probably benign |
|
R1819:Zfp646
|
UTSW |
7 |
127,883,120 (GRCm38) |
missense |
probably benign |
|
R1838:Zfp646
|
UTSW |
7 |
127,879,739 (GRCm38) |
missense |
probably damaging |
1.00 |
R1870:Zfp646
|
UTSW |
7 |
127,883,849 (GRCm38) |
missense |
possibly damaging |
0.85 |
R2100:Zfp646
|
UTSW |
7 |
127,882,187 (GRCm38) |
missense |
probably damaging |
1.00 |
R2763:Zfp646
|
UTSW |
7 |
127,880,038 (GRCm38) |
nonsense |
probably null |
|
R4346:Zfp646
|
UTSW |
7 |
127,879,509 (GRCm38) |
missense |
probably damaging |
1.00 |
R4770:Zfp646
|
UTSW |
7 |
127,883,477 (GRCm38) |
missense |
possibly damaging |
0.83 |
R4824:Zfp646
|
UTSW |
7 |
127,883,735 (GRCm38) |
missense |
probably benign |
0.00 |
R4936:Zfp646
|
UTSW |
7 |
127,881,761 (GRCm38) |
missense |
possibly damaging |
0.93 |
R4937:Zfp646
|
UTSW |
7 |
127,879,182 (GRCm38) |
missense |
probably benign |
0.01 |
R5062:Zfp646
|
UTSW |
7 |
127,880,499 (GRCm38) |
missense |
probably damaging |
0.99 |
R5424:Zfp646
|
UTSW |
7 |
127,882,703 (GRCm38) |
missense |
possibly damaging |
0.72 |
R5610:Zfp646
|
UTSW |
7 |
127,879,358 (GRCm38) |
missense |
probably damaging |
1.00 |
R5729:Zfp646
|
UTSW |
7 |
127,885,454 (GRCm38) |
missense |
probably damaging |
0.99 |
R6112:Zfp646
|
UTSW |
7 |
127,879,018 (GRCm38) |
missense |
possibly damaging |
0.71 |
R6161:Zfp646
|
UTSW |
7 |
127,878,725 (GRCm38) |
missense |
probably damaging |
1.00 |
R6310:Zfp646
|
UTSW |
7 |
127,883,907 (GRCm38) |
missense |
probably benign |
0.13 |
R6331:Zfp646
|
UTSW |
7 |
127,883,681 (GRCm38) |
missense |
probably damaging |
0.99 |
R6436:Zfp646
|
UTSW |
7 |
127,879,941 (GRCm38) |
missense |
probably benign |
0.00 |
R6814:Zfp646
|
UTSW |
7 |
127,883,333 (GRCm38) |
missense |
probably benign |
0.17 |
R6872:Zfp646
|
UTSW |
7 |
127,883,333 (GRCm38) |
missense |
probably benign |
0.17 |
R6903:Zfp646
|
UTSW |
7 |
127,880,720 (GRCm38) |
missense |
possibly damaging |
0.91 |
R7018:Zfp646
|
UTSW |
7 |
127,882,322 (GRCm38) |
missense |
probably benign |
|
R7049:Zfp646
|
UTSW |
7 |
127,880,027 (GRCm38) |
missense |
possibly damaging |
0.93 |
R7121:Zfp646
|
UTSW |
7 |
127,879,772 (GRCm38) |
missense |
possibly damaging |
0.95 |
R7405:Zfp646
|
UTSW |
7 |
127,878,796 (GRCm38) |
nonsense |
probably null |
|
R8345:Zfp646
|
UTSW |
7 |
127,883,910 (GRCm38) |
missense |
probably benign |
0.12 |
R8545:Zfp646
|
UTSW |
7 |
127,885,490 (GRCm38) |
missense |
probably benign |
|
R8909:Zfp646
|
UTSW |
7 |
127,879,343 (GRCm38) |
missense |
probably damaging |
0.99 |
R8983:Zfp646
|
UTSW |
7 |
127,881,605 (GRCm38) |
missense |
probably benign |
|
R9001:Zfp646
|
UTSW |
7 |
127,879,684 (GRCm38) |
missense |
probably damaging |
0.96 |
R9018:Zfp646
|
UTSW |
7 |
127,879,071 (GRCm38) |
missense |
probably benign |
|
R9118:Zfp646
|
UTSW |
7 |
127,881,638 (GRCm38) |
missense |
|
|
R9414:Zfp646
|
UTSW |
7 |
127,881,878 (GRCm38) |
missense |
probably damaging |
0.99 |
Z1177:Zfp646
|
UTSW |
7 |
127,880,632 (GRCm38) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGTGCCAAGCATTTCCATACC -3'
(R):5'- CACAGAAGCCAGTTTCATTGCACTC -3'
Sequencing Primer
(F):5'- CATGGCTGCGATGAAAAGC -3'
(R):5'- ATTGCACTCATCACCTGGGG -3'
|
Posted On |
2013-05-23 |