Incidental Mutation 'R0109:Zfp217'
| ID |
64189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp217
|
| Ensembl Gene |
ENSMUSG00000052056 |
| Gene Name |
zinc finger protein 217 |
| Synonyms |
4933431C08Rik |
| MMRRC Submission |
038395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R0109 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
169950563-169990023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 169957382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 539
(A539T)
|
| 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: A539T
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: A539T
| 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: A539T
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: A539T
| 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 |
noncoding transcript
Transcript: ENSMUST00000149088
|
| Meta Mutation Damage Score |
0.1431 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
| Col19a1 |
A |
C |
1: 24,598,849 (GRCm39) |
|
probably null |
Het |
| Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,601,878 (GRCm39) |
F101L |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,857,936 (GRCm39) |
S2077P |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,279,340 (GRCm39) |
E688D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
| Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
| Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
| Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,279,340 (GRCm39) |
I50V |
possibly damaging |
Het |
| Rtl1 |
G |
A |
12: 109,561,841 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
G |
C |
15: 80,893,667 (GRCm39) |
D434H |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,964,314 (GRCm39) |
S634P |
possibly damaging |
Het |
| Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
| Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
| Spata16 |
T |
A |
3: 26,967,416 (GRCm39) |
F389I |
probably damaging |
Het |
| Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
| Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,555,908 (GRCm39) |
I30366F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,529,549 (GRCm39) |
Y184* |
probably null |
Het |
| Vmn2r53 |
C |
T |
7: 12,315,993 (GRCm39) |
A609T |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,349,622 (GRCm39) |
N3272K |
probably damaging |
Het |
| Zfp454 |
T |
A |
11: 50,774,602 (GRCm39) |
T24S |
possibly damaging |
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 |
|
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 |
|
R1549:Zfp217
|
UTSW |
2 |
169,956,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGCATGTCCAGATAAGTAGGGGCAG -3'
(R):5'- AGGGAACAGCCCATGTTTGGTG -3'
Sequencing Primer
(F):5'- ATGGAAATCCTGAGTATCGTTGC -3'
(R):5'- CATAGCTTGCTTAGCTTGCAGAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation