Incidental Mutation 'R5734:Zfp217'
ID |
451575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp217
|
Ensembl Gene |
ENSMUSG00000052056 |
Gene Name |
zinc finger protein 217 |
Synonyms |
4933431C08Rik |
MMRRC Submission |
043348-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.923)
|
Stock # |
R5734 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
169950563-169990023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 169961064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 421
(D421G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063710]
[ENSMUST00000109155]
|
AlphaFold |
Q3U0X6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063710
AA Change: D421G
PolyPhen 2
Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000067334 Gene: ENSMUSG00000052056 AA Change: D421G
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: D421G
PolyPhen 2
Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104783 Gene: ENSMUSG00000052056 AA Change: D421G
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: ENSMUST00000125162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149088
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149318
|
Meta Mutation Damage Score |
0.0752 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
G |
9: 46,215,303 (GRCm39) |
|
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,571,457 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
G |
A |
11: 50,679,494 (GRCm39) |
G825R |
probably damaging |
Het |
Adgre1 |
A |
T |
17: 57,750,990 (GRCm39) |
R555W |
probably benign |
Het |
Apob |
T |
A |
12: 8,038,781 (GRCm39) |
V398D |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,334,856 (GRCm39) |
N355S |
probably benign |
Het |
Asb3 |
G |
T |
11: 30,979,021 (GRCm39) |
D143Y |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,925,419 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
A |
G |
8: 85,310,360 (GRCm39) |
M1425V |
probably damaging |
Het |
Capn9 |
A |
G |
8: 125,332,583 (GRCm39) |
E474G |
probably damaging |
Het |
Capza2 |
T |
C |
6: 17,660,764 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
A |
G |
13: 100,823,622 (GRCm39) |
N202S |
possibly damaging |
Het |
Ccn1 |
A |
G |
3: 145,354,023 (GRCm39) |
C256R |
probably damaging |
Het |
Chrm5 |
T |
A |
2: 112,310,445 (GRCm39) |
T224S |
probably benign |
Het |
Chtop |
C |
T |
3: 90,409,422 (GRCm39) |
|
probably null |
Het |
Clip1 |
T |
C |
5: 123,753,217 (GRCm39) |
|
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,552,604 (GRCm39) |
T14A |
possibly damaging |
Het |
Dcaf8 |
T |
C |
1: 172,000,478 (GRCm39) |
V212A |
possibly damaging |
Het |
Fam114a1 |
T |
C |
5: 65,166,389 (GRCm39) |
M240T |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,504,246 (GRCm39) |
Y4580H |
probably damaging |
Het |
Glipr1 |
G |
A |
10: 111,821,698 (GRCm39) |
R200* |
probably null |
Het |
Gm6408 |
A |
T |
5: 146,419,192 (GRCm39) |
Y69F |
probably benign |
Het |
Gpt2 |
T |
C |
8: 86,249,885 (GRCm39) |
S456P |
probably benign |
Het |
Kat8 |
T |
C |
7: 127,519,751 (GRCm39) |
F225S |
probably benign |
Het |
Lactb2 |
T |
A |
1: 13,730,611 (GRCm39) |
N22Y |
probably damaging |
Het |
Lin28a |
A |
T |
4: 133,735,284 (GRCm39) |
C67* |
probably null |
Het |
Mtarc2 |
T |
C |
1: 184,564,786 (GRCm39) |
E155G |
probably benign |
Het |
Myoz3 |
G |
A |
18: 60,712,543 (GRCm39) |
T104M |
possibly damaging |
Het |
Nek9 |
C |
T |
12: 85,350,289 (GRCm39) |
M928I |
probably benign |
Het |
Nlrp9a |
G |
C |
7: 26,270,065 (GRCm39) |
A831P |
probably damaging |
Het |
Nop53 |
T |
C |
7: 15,679,887 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
T |
A |
13: 40,241,325 (GRCm39) |
T728S |
probably damaging |
Het |
Pabpc4l |
T |
A |
3: 46,401,124 (GRCm39) |
|
probably null |
Het |
Rbm34 |
T |
C |
8: 127,696,880 (GRCm39) |
|
probably null |
Het |
Relch |
T |
C |
1: 105,631,608 (GRCm39) |
|
probably benign |
Het |
Robo2 |
C |
T |
16: 74,149,672 (GRCm39) |
C52Y |
probably damaging |
Het |
Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,548,066 (GRCm39) |
Y57C |
possibly damaging |
Het |
Selp |
C |
T |
1: 163,971,460 (GRCm39) |
|
probably benign |
Het |
Skp2 |
T |
C |
15: 9,139,566 (GRCm39) |
D43G |
possibly damaging |
Het |
Smad5 |
T |
A |
13: 56,871,617 (GRCm39) |
S71T |
probably damaging |
Het |
Sorcs1 |
G |
T |
19: 50,171,213 (GRCm39) |
H892N |
probably benign |
Het |
Sox6 |
C |
T |
7: 115,140,856 (GRCm39) |
|
probably null |
Het |
St3gal1 |
A |
T |
15: 66,978,522 (GRCm39) |
I333N |
probably damaging |
Het |
Tex15 |
C |
A |
8: 34,036,364 (GRCm39) |
Q97K |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,917,884 (GRCm39) |
T2266S |
possibly damaging |
Het |
Tpbgl |
C |
A |
7: 99,274,949 (GRCm39) |
G303C |
probably damaging |
Het |
Trat1 |
A |
T |
16: 48,555,304 (GRCm39) |
S143T |
possibly damaging |
Het |
Trpm8 |
T |
A |
1: 88,283,002 (GRCm39) |
V763E |
probably benign |
Het |
Ttc21a |
G |
A |
9: 119,795,732 (GRCm39) |
D1189N |
probably benign |
Het |
Usp7 |
T |
C |
16: 8,519,845 (GRCm39) |
N178D |
possibly damaging |
Het |
Zfp382 |
T |
C |
7: 29,833,855 (GRCm39) |
F502S |
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 |
|
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'- ACGGAGATGATAGCCTGACTC -3'
(R):5'- AGGTCTCTCCCAAGACAAAGAG -3'
Sequencing Primer
(F):5'- GATGATAGCCTGACTCCCAGAG -3'
(R):5'- CCTAGACATGCTAATAGTGAAGTGCC -3'
|
Posted On |
2017-01-03 |