Incidental Mutation 'R1221:Zfp646'
| ID |
100096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp646
|
| Ensembl Gene |
ENSMUSG00000049739 |
| Gene Name |
zinc finger protein 646 |
| Synonyms |
|
| MMRRC Submission |
039290-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R1221 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127482292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 1490
(G1490S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050383]
[ENSMUST00000121394]
[ENSMUST00000131000]
[ENSMUST00000205300]
|
| AlphaFold |
Q6NV66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050383
AA Change: G1490S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: G1490S
| 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: ENSMUST00000121394
|
| SMART Domains |
Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
38 |
268 |
3.91e-45 |
SMART |
|
Tryp_SPc
|
300 |
520 |
9.95e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126662
|
| SMART Domains |
Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804
| Domain | Start | End | E-Value | Type |
|---|
|
VKc
|
1 |
111 |
8.84e-23 |
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 |
probably benign
Transcript: ENSMUST00000205300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205364
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206340
AA Change: G1270S
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,942,460 (GRCm39) |
S668P |
unknown |
Het |
| Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
| Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
| Bap1 |
T |
C |
14: 30,979,608 (GRCm39) |
L537P |
probably damaging |
Het |
| Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
| Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
| C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
| Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
| Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,519,700 (GRCm39) |
T978A |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
| Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
| F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
| Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
| Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
| Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
| Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
| Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
| Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
| Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
| Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,050,324 (GRCm39) |
G494D |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,086,567 (GRCm39) |
F351L |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,396,436 (GRCm39) |
M592V |
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,387,909 (GRCm39) |
T347A |
probably benign |
Het |
| Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAATGAACCACAATGGTGCCTG -3'
(R):5'- CTGACCTGACATCTGACTGTGCTC -3'
Sequencing Primer
(F):5'- ACACTGTCTCCAGGAATCCT -3'
(R):5'- TGTGCTCAACAGCATGAGTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation