Incidental Mutation 'R0023:Zfp652'
| ID |
15185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp652
|
| Ensembl Gene |
ENSMUSG00000075595 |
| Gene Name |
zinc finger protein 652 |
| Synonyms |
9530033F24Rik |
| MMRRC Submission |
038318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R0023 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
95639893-95655541 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 95644295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 205
(R205*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091565]
[ENSMUST00000107717]
[ENSMUST00000133070]
[ENSMUST00000148945]
|
| AlphaFold |
Q5DU09 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091565
AA Change: R385*
|
| SMART Domains |
Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: R385*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
244 |
267 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
271 |
291 |
6.15e1 |
SMART |
|
ZnF_C2H2
|
298 |
321 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.15e-5 |
SMART |
|
ZnF_C2H2
|
468 |
488 |
6.15e1 |
SMART |
|
low complexity region
|
508 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107717
AA Change: R385*
|
| SMART Domains |
Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: R385*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
244 |
267 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
271 |
291 |
6.15e1 |
SMART |
|
ZnF_C2H2
|
298 |
321 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.15e-5 |
SMART |
|
ZnF_C2H2
|
468 |
488 |
6.15e1 |
SMART |
|
low complexity region
|
508 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133070
AA Change: R385*
|
| SMART Domains |
Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595
AA Change: R385*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
244 |
267 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
271 |
291 |
6.15e1 |
SMART |
|
ZnF_C2H2
|
298 |
321 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.95e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148945
AA Change: R205*
|
| SMART Domains |
Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595
AA Change: R205*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
118 |
141 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
148 |
170 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
176 |
198 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
204 |
226 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
260 |
282 |
1.15e-5 |
SMART |
|
ZnF_C2H2
|
288 |
308 |
6.15e1 |
SMART |
|
low complexity region
|
328 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
396 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 78.2%
- 3x: 67.5%
- 10x: 40.9%
- 20x: 21.9%
|
| Validation Efficiency |
89% (77/87) |
| Allele List at MGI |
All alleles(23) : Targeted(1) Gene trapped(22)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
| Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,520,138 (GRCm39) |
K226N |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
| Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
| Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,501,089 (GRCm39) |
L938Q |
probably damaging |
Het |
| Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
| Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
| Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
T |
7: 113,849,329 (GRCm39) |
D91E |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
| Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,852,837 (GRCm39) |
K1375E |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Lrig3 |
A |
C |
10: 125,846,088 (GRCm39) |
D839A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,408,680 (GRCm39) |
Y700H |
probably damaging |
Het |
| Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,138,929 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
| Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
| Synrg |
G |
T |
11: 83,899,479 (GRCm39) |
D562Y |
probably damaging |
Het |
| Tfip11 |
T |
C |
5: 112,479,875 (GRCm39) |
S265P |
possibly damaging |
Het |
| Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
| Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
|
| Other mutations in Zfp652 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0023:Zfp652
|
UTSW |
11 |
95,644,295 (GRCm39) |
nonsense |
probably null |
|
|
R0432:Zfp652
|
UTSW |
11 |
95,654,565 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0464:Zfp652
|
UTSW |
11 |
95,654,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1146:Zfp652
|
UTSW |
11 |
95,640,608 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1146:Zfp652
|
UTSW |
11 |
95,640,608 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1920:Zfp652
|
UTSW |
11 |
95,654,851 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1922:Zfp652
|
UTSW |
11 |
95,654,851 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2090:Zfp652
|
UTSW |
11 |
95,644,834 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2290:Zfp652
|
UTSW |
11 |
95,640,849 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2656:Zfp652
|
UTSW |
11 |
95,640,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4790:Zfp652
|
UTSW |
11 |
95,640,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5073:Zfp652
|
UTSW |
11 |
95,640,890 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5098:Zfp652
|
UTSW |
11 |
95,643,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Zfp652
|
UTSW |
11 |
95,654,491 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5569:Zfp652
|
UTSW |
11 |
95,640,116 (GRCm39) |
missense |
probably benign |
|
|
R5905:Zfp652
|
UTSW |
11 |
95,640,689 (GRCm39) |
missense |
probably benign |
|
|
R6026:Zfp652
|
UTSW |
11 |
95,640,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6054:Zfp652
|
UTSW |
11 |
95,640,689 (GRCm39) |
missense |
probably benign |
|
|
R6629:Zfp652
|
UTSW |
11 |
95,654,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6815:Zfp652
|
UTSW |
11 |
95,640,230 (GRCm39) |
nonsense |
probably null |
|
|
R6932:Zfp652
|
UTSW |
11 |
95,654,667 (GRCm39) |
missense |
probably benign |
|
|
R7384:Zfp652
|
UTSW |
11 |
95,643,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Zfp652
|
UTSW |
11 |
95,640,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Zfp652
|
UTSW |
11 |
95,640,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Zfp652
|
UTSW |
11 |
95,640,935 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8045:Zfp652
|
UTSW |
11 |
95,640,483 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8093:Zfp652
|
UTSW |
11 |
95,640,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8482:Zfp652
|
UTSW |
11 |
95,643,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Zfp652
|
UTSW |
11 |
95,639,921 (GRCm39) |
start gained |
probably benign |
|
|
R9366:Zfp652
|
UTSW |
11 |
95,643,833 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Zfp652
|
UTSW |
11 |
95,640,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-12 |
Incidental Mutation