Incidental Mutation 'R8119:Zfp217'
ID |
631381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp217
|
Ensembl Gene |
ENSMUSG00000052056 |
Gene Name |
zinc finger protein 217 |
Synonyms |
4933431C08Rik |
MMRRC Submission |
067548-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.923)
|
Stock # |
R8119 (G1)
|
Quality Score |
217.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
169950563-169990023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 169961571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 252
(S252F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063710]
[ENSMUST00000109155]
|
AlphaFold |
Q3U0X6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063710
AA Change: S252F
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000067334 Gene: ENSMUSG00000052056 AA Change: S252F
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 |
possibly damaging
Transcript: ENSMUST00000109155
AA Change: S252F
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104783 Gene: ENSMUSG00000052056 AA Change: S252F
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 |
0.0933 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,087,930 (GRCm39) |
I1066V |
probably benign |
Het |
Abcd2 |
T |
C |
15: 91,033,197 (GRCm39) |
T740A |
probably benign |
Het |
Amigo1 |
T |
C |
3: 108,094,852 (GRCm39) |
L117P |
probably damaging |
Het |
Ankar |
A |
T |
1: 72,686,160 (GRCm39) |
S1347T |
probably damaging |
Het |
Apol7e |
T |
C |
15: 77,601,956 (GRCm39) |
S185P |
probably damaging |
Het |
Ash1l |
G |
A |
3: 88,942,734 (GRCm39) |
C2088Y |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
Caln1 |
A |
G |
5: 130,851,825 (GRCm39) |
S205G |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,704,672 (GRCm39) |
I2803V |
unknown |
Het |
Cfh |
A |
C |
1: 140,047,753 (GRCm39) |
F477V |
possibly damaging |
Het |
Cldn23 |
A |
G |
8: 36,293,056 (GRCm39) |
V144A |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 17,077,310 (GRCm39) |
S116P |
probably damaging |
Het |
Dgkd |
A |
T |
1: 87,845,689 (GRCm39) |
T299S |
possibly damaging |
Het |
Fam20b |
T |
G |
1: 156,518,072 (GRCm39) |
T241P |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,505,493 (GRCm39) |
M925K |
probably benign |
Het |
Ftdc1 |
C |
A |
16: 58,437,211 (GRCm39) |
M32I |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,299,607 (GRCm39) |
R987Q |
probably damaging |
Het |
Kctd10 |
A |
G |
5: 114,505,316 (GRCm39) |
V226A |
probably damaging |
Het |
Lypd2 |
A |
G |
15: 74,604,881 (GRCm39) |
V38A |
probably benign |
Het |
Map3k1 |
T |
C |
13: 111,909,156 (GRCm39) |
R265G |
possibly damaging |
Het |
Mcc |
C |
T |
18: 44,601,500 (GRCm39) |
V610M |
possibly damaging |
Het |
Mocs1 |
C |
T |
17: 49,756,547 (GRCm39) |
R244C |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,103,232 (GRCm39) |
T677A |
probably damaging |
Het |
Ngp |
A |
G |
9: 110,251,421 (GRCm39) |
N150D |
probably benign |
Het |
Nipbl |
C |
T |
15: 8,388,696 (GRCm39) |
R308Q |
probably benign |
Het |
Nsrp1 |
A |
G |
11: 76,939,177 (GRCm39) |
|
probably null |
Het |
Or2y16 |
A |
T |
11: 49,334,953 (GRCm39) |
I92F |
probably damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,908 (GRCm39) |
I206N |
probably damaging |
Het |
Or52n20 |
A |
T |
7: 104,320,061 (GRCm39) |
I51F |
probably damaging |
Het |
Pbld2 |
A |
T |
10: 62,889,656 (GRCm39) |
D146V |
probably benign |
Het |
Prss22 |
T |
A |
17: 24,213,701 (GRCm39) |
K197* |
probably null |
Het |
Ptprd |
G |
T |
4: 76,047,263 (GRCm39) |
S87R |
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Slc25a35 |
T |
C |
11: 68,862,798 (GRCm39) |
L251S |
probably benign |
Het |
Slx4 |
A |
T |
16: 3,803,136 (GRCm39) |
L1226* |
probably null |
Het |
Smarca4 |
T |
C |
9: 21,558,922 (GRCm39) |
V651A |
possibly damaging |
Het |
Smarcad1 |
T |
C |
6: 65,071,303 (GRCm39) |
F583L |
probably benign |
Het |
Taf2 |
T |
C |
15: 54,894,526 (GRCm39) |
K932E |
probably benign |
Het |
Trav8d-1 |
A |
T |
14: 53,016,425 (GRCm39) |
T104S |
probably benign |
Het |
Trmt9b |
G |
A |
8: 36,965,576 (GRCm39) |
W32* |
probably null |
Het |
Trpm4 |
A |
T |
7: 44,976,552 (GRCm39) |
V155D |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,752,429 (GRCm39) |
Y1445F |
possibly damaging |
Het |
Ttll5 |
C |
A |
12: 86,067,322 (GRCm39) |
N1270K |
probably damaging |
Het |
Usp40 |
G |
T |
1: 87,895,400 (GRCm39) |
|
probably null |
Het |
Vmn2r74 |
T |
C |
7: 85,610,690 (GRCm39) |
M1V |
probably null |
Het |
Wwox |
T |
C |
8: 115,433,108 (GRCm39) |
V258A |
probably damaging |
Het |
Zfp770 |
G |
A |
2: 114,027,508 (GRCm39) |
T187I |
probably damaging |
Het |
Zranb2 |
A |
G |
3: 157,241,969 (GRCm39) |
|
probably null |
Het |
Zscan4-ps3 |
A |
G |
7: 11,344,267 (GRCm39) |
Q75R |
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 |
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 |
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'- TCTTTCTCTGAGCATGAGTCG -3'
(R):5'- TCAATGAAGTGGTCCAGCCG -3'
Sequencing Primer
(F):5'- CTCTGAGCATGAGTCGTCATTGTC -3'
(R):5'- TCATTGAGCACAGCAAGG -3'
|
Posted On |
2020-06-30 |