Incidental Mutation 'R1549:Zfp217'
| ID |
169766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp217
|
| Ensembl Gene |
ENSMUSG00000052056 |
| Gene Name |
zinc finger protein 217 |
| Synonyms |
4933431C08Rik |
| MMRRC Submission |
039588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R1549 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
169950563-169990023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 169956390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 869
(N869K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063710]
[ENSMUST00000109155]
|
| AlphaFold |
Q3U0X6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063710
AA Change: N869K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: N869K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
57 |
80 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
121 |
143 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
149 |
171 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
208 |
230 |
2.91e-2 |
SMART |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
383 |
405 |
1.53e-1 |
SMART |
|
low complexity region
|
437 |
455 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
478 |
500 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
506 |
528 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
704 |
727 |
2.29e0 |
SMART |
|
low complexity region
|
854 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
960 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109155
AA Change: N869K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: N869K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
57 |
80 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
121 |
143 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
149 |
171 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
208 |
230 |
2.91e-2 |
SMART |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
383 |
405 |
1.53e-1 |
SMART |
|
low complexity region
|
437 |
455 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
478 |
500 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
506 |
528 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
704 |
727 |
2.29e0 |
SMART |
|
low complexity region
|
854 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
960 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,441 (GRCm39) |
I157K |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,837,812 (GRCm39) |
N727Y |
probably benign |
Het |
| Atg16l1 |
A |
G |
1: 87,701,910 (GRCm39) |
T251A |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,883,422 (GRCm39) |
I226F |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,969,737 (GRCm39) |
H4260R |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,670,920 (GRCm39) |
I85T |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,853,373 (GRCm39) |
|
probably benign |
Het |
| Ccnd1 |
T |
G |
7: 144,491,073 (GRCm39) |
I178L |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,637,349 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,785,034 (GRCm39) |
T254A |
unknown |
Het |
| Ctif |
C |
A |
18: 75,698,096 (GRCm39) |
R188L |
probably damaging |
Het |
| Cyp2c69 |
A |
T |
19: 39,831,430 (GRCm39) |
L461Q |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,796,656 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
T |
A |
1: 123,269,109 (GRCm39) |
|
probably null |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
T |
C |
5: 31,350,265 (GRCm39) |
E19G |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,832,308 (GRCm39) |
L269P |
possibly damaging |
Het |
| Gm2381 |
T |
A |
7: 42,471,825 (GRCm39) |
H18L |
probably benign |
Het |
| Gpbp1 |
G |
T |
13: 111,573,113 (GRCm39) |
D326E |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,837,051 (GRCm39) |
R331H |
probably damaging |
Het |
| Iigp1 |
G |
A |
18: 60,522,948 (GRCm39) |
G22D |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,142,084 (GRCm39) |
H205R |
probably damaging |
Het |
| Klk1b26 |
C |
T |
7: 43,665,826 (GRCm39) |
|
probably benign |
Het |
| Lime1 |
A |
G |
2: 181,025,169 (GRCm39) |
Y242C |
probably benign |
Het |
| Manba |
A |
G |
3: 135,250,567 (GRCm39) |
D398G |
probably damaging |
Het |
| Mapk3 |
A |
T |
7: 126,362,684 (GRCm39) |
K219* |
probably null |
Het |
| Mdfic |
G |
T |
6: 15,799,844 (GRCm39) |
G324C |
probably damaging |
Het |
| Mdga1 |
G |
A |
17: 30,056,972 (GRCm39) |
H837Y |
probably damaging |
Het |
| Nck1 |
T |
A |
9: 100,379,925 (GRCm39) |
M109L |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,076 (GRCm39) |
I194V |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,288 (GRCm39) |
V142A |
probably benign |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Phf3 |
C |
T |
1: 30,843,923 (GRCm39) |
V1679I |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,705,076 (GRCm39) |
I32V |
probably benign |
Het |
| Pspc1 |
T |
G |
14: 56,986,398 (GRCm39) |
H351P |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,883,578 (GRCm39) |
E829G |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,777,378 (GRCm39) |
Y164C |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,033,596 (GRCm39) |
W141R |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,267 (GRCm39) |
E446G |
possibly damaging |
Het |
| Stim2 |
G |
A |
5: 54,262,667 (GRCm39) |
R303Q |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,451,579 (GRCm39) |
I550V |
probably benign |
Het |
| Tmed3 |
A |
C |
9: 89,581,998 (GRCm39) |
L155R |
probably damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,799 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,261,722 (GRCm39) |
V113F |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,696 (GRCm39) |
Y139S |
probably benign |
Het |
| Vmn2r5 |
G |
T |
3: 64,411,421 (GRCm39) |
D382E |
probably damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,378 (GRCm39) |
E40G |
probably damaging |
Het |
| Zswim2 |
G |
T |
2: 83,754,092 (GRCm39) |
D189E |
probably benign |
Het |
|
| Other mutations in Zfp217 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02021:Zfp217
|
APN |
2 |
169,957,069 (GRCm39) |
missense |
probably benign |
|
|
IGL02412:Zfp217
|
APN |
2 |
169,954,422 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02435:Zfp217
|
APN |
2 |
169,961,373 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03152:Zfp217
|
APN |
2 |
169,960,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Zfp217
|
UTSW |
2 |
169,956,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0107:Zfp217
|
UTSW |
2 |
169,956,794 (GRCm39) |
nonsense |
probably null |
|
|
R0109:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0109:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0110:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0180:Zfp217
|
UTSW |
2 |
169,962,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0279:Zfp217
|
UTSW |
2 |
169,961,700 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0395:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0396:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0453:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0510:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0512:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0513:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0653:Zfp217
|
UTSW |
2 |
169,957,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3420:Zfp217
|
UTSW |
2 |
169,961,937 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3421:Zfp217
|
UTSW |
2 |
169,961,937 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3422:Zfp217
|
UTSW |
2 |
169,961,937 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3726:Zfp217
|
UTSW |
2 |
169,961,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3731:Zfp217
|
UTSW |
2 |
169,956,308 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3926:Zfp217
|
UTSW |
2 |
169,954,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4051:Zfp217
|
UTSW |
2 |
169,954,536 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4289:Zfp217
|
UTSW |
2 |
169,956,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4606:Zfp217
|
UTSW |
2 |
169,961,670 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4948:Zfp217
|
UTSW |
2 |
169,961,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5113:Zfp217
|
UTSW |
2 |
169,955,978 (GRCm39) |
splice site |
probably null |
|
|
R5734:Zfp217
|
UTSW |
2 |
169,961,064 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6228:Zfp217
|
UTSW |
2 |
169,961,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6452:Zfp217
|
UTSW |
2 |
169,961,214 (GRCm39) |
missense |
probably benign |
|
|
R6782:Zfp217
|
UTSW |
2 |
169,958,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Zfp217
|
UTSW |
2 |
169,956,072 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8094:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8095:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8119:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8120:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8134:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8136:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8150:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8151:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8152:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8343:Zfp217
|
UTSW |
2 |
169,962,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8395:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8396:Zfp217
|
UTSW |
2 |
169,961,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8885:Zfp217
|
UTSW |
2 |
169,956,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8970:Zfp217
|
UTSW |
2 |
169,956,997 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9631:Zfp217
|
UTSW |
2 |
169,956,790 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCTCCTGACCACATGGTACTTG -3'
(R):5'- TCGAAGTCCCTGCACTCAGAGAAG -3'
Sequencing Primer
(F):5'- CCACATGGTACTTGGGGAG -3'
(R):5'- TGCACTCAGAGAAGGCTCG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation