Incidental Mutation 'R3731:Zfp217'
| ID |
270969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp217
|
| Ensembl Gene |
ENSMUSG00000052056 |
| Gene Name |
zinc finger protein 217 |
| Synonyms |
4933431C08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R3731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
169950563-169990023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 169956308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 897
(N897D)
|
| 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: N897D
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: N897D
| 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: N897D
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: N897D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,427,485 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
T |
16: 20,217,684 (GRCm39) |
Y5* |
probably null |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adar |
T |
C |
3: 89,653,962 (GRCm39) |
I325T |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,261,125 (GRCm39) |
S92P |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,061,528 (GRCm39) |
V771E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,047,708 (GRCm39) |
S492P |
possibly damaging |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Dennd2d |
T |
G |
3: 106,407,271 (GRCm39) |
F441V |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Disp3 |
A |
G |
4: 148,337,284 (GRCm39) |
S844P |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,722 (GRCm39) |
K286E |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,768,671 (GRCm39) |
E203G |
probably benign |
Het |
| Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,148,732 (GRCm39) |
E381G |
possibly damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,155,308 (GRCm39) |
Q320R |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Loxl3 |
T |
C |
6: 83,027,652 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,121,637 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nepn |
A |
T |
10: 52,280,110 (GRCm39) |
N401Y |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Npas3 |
T |
C |
12: 53,401,175 (GRCm39) |
I40T |
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,565 (GRCm39) |
E196G |
probably benign |
Het |
| Or1j19 |
A |
T |
2: 36,676,578 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,684 (GRCm39) |
N175Y |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,535,962 (GRCm39) |
D268V |
probably damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,633 (GRCm39) |
I34T |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,338,365 (GRCm39) |
M1L |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,471,193 (GRCm39) |
Y988C |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Serpina1d |
T |
A |
12: 103,734,164 (GRCm39) |
N47Y |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sirpb1c |
T |
C |
3: 15,887,287 (GRCm39) |
K184R |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,645,379 (GRCm39) |
S41P |
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,719 (GRCm39) |
T104A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,485,349 (GRCm39) |
S838R |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,000,923 (GRCm39) |
V166A |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably 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 |
|
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 |
|
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'- TCAGGAAACGGGCTTTGTGG -3'
(R):5'- TTGTTTCCCAAAGGTGGCG -3'
Sequencing Primer
(F):5'- CTTTGTGGGGCAGCACAG -3'
(R):5'- CGTCCCTGCTGCTATGGATAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation