Incidental Mutation 'R5113:Zfp217'
| ID |
394002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp217
|
| Ensembl Gene |
ENSMUSG00000052056 |
| Gene Name |
zinc finger protein 217 |
| Synonyms |
4933431C08Rik |
| MMRRC Submission |
042701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R5113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
169950563-169990023 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 169955978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063710]
[ENSMUST00000109155]
|
| AlphaFold |
Q3U0X6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063710
|
| SMART Domains |
Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
| 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 null
Transcript: ENSMUST00000109155
|
| SMART Domains |
Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
A |
G |
11: 70,206,821 (GRCm39) |
V622A |
possibly damaging |
Het |
| Ankef1 |
A |
G |
2: 136,394,361 (GRCm39) |
N590S |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano3 |
A |
T |
2: 110,491,825 (GRCm39) |
N867K |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,973,582 (GRCm39) |
V2547A |
probably damaging |
Het |
| Chil5 |
A |
T |
3: 105,925,294 (GRCm39) |
V209E |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,613,147 (GRCm39) |
C459S |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,159 (GRCm39) |
D1105V |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,882 (GRCm39) |
D199G |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,742,902 (GRCm39) |
|
probably null |
Het |
| Cysrt1 |
A |
T |
2: 25,129,363 (GRCm39) |
C50S |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,869,592 (GRCm39) |
K278R |
probably benign |
Het |
| Eefsec |
C |
A |
6: 88,258,557 (GRCm39) |
S512I |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,964 (GRCm39) |
F908L |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,503,596 (GRCm39) |
V731A |
possibly damaging |
Het |
| Erc2 |
T |
C |
14: 27,374,829 (GRCm39) |
S16P |
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,714,626 (GRCm39) |
R342G |
probably damaging |
Het |
| Gpr142 |
A |
T |
11: 114,695,143 (GRCm39) |
Q36L |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,714,952 (GRCm39) |
S681P |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,520,614 (GRCm39) |
S208T |
possibly damaging |
Het |
| Hmgcr |
G |
A |
13: 96,793,240 (GRCm39) |
A464V |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,280,069 (GRCm39) |
T97A |
possibly damaging |
Het |
| Ino80 |
G |
T |
2: 119,262,426 (GRCm39) |
Q687K |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,409 (GRCm39) |
N150D |
probably damaging |
Het |
| Klf4 |
A |
G |
4: 55,530,481 (GRCm39) |
I210T |
possibly damaging |
Het |
| Klkb1 |
C |
A |
8: 45,723,734 (GRCm39) |
Q560H |
probably benign |
Het |
| Lce1a2 |
A |
T |
3: 92,576,442 (GRCm39) |
V40E |
unknown |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mipol1 |
C |
T |
12: 57,543,285 (GRCm39) |
T393I |
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,959,446 (GRCm39) |
D244G |
probably damaging |
Het |
| Nexn |
G |
A |
3: 151,949,525 (GRCm39) |
R258C |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,828,715 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,221 (GRCm39) |
N282S |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,371 (GRCm39) |
I195L |
probably benign |
Het |
| Or6c207 |
A |
G |
10: 129,104,535 (GRCm39) |
I219T |
probably damaging |
Het |
| Or7a37 |
A |
G |
10: 78,806,037 (GRCm39) |
I185V |
probably benign |
Het |
| Pabpc2 |
C |
A |
18: 39,908,436 (GRCm39) |
P567Q |
probably benign |
Het |
| Pierce2 |
T |
A |
9: 72,887,175 (GRCm39) |
R111* |
probably null |
Het |
| Ppm1j |
A |
G |
3: 104,691,990 (GRCm39) |
H324R |
possibly damaging |
Het |
| Reg3g |
A |
T |
6: 78,443,544 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
| Ski |
T |
C |
4: 155,243,849 (GRCm39) |
T554A |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,852,522 (GRCm39) |
V883M |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,030,333 (GRCm39) |
|
probably benign |
Het |
| Tex19.1 |
A |
G |
11: 121,038,625 (GRCm39) |
T328A |
probably benign |
Het |
| Tpsab1 |
T |
C |
17: 25,564,373 (GRCm39) |
N27S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,643,244 (GRCm39) |
L13225Q |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,843 (GRCm39) |
T229A |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,446,711 (GRCm39) |
K600E |
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 |
|
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'- CAGCACCTGGACTTCAACAG -3'
(R):5'- CATGTGGTCAGGAGCATCAC -3'
Sequencing Primer
(F):5'- CCTGGACTTCAACAGCAAGG -3'
(R):5'- CTTGCTACCACCAGAGTGTGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation