Incidental Mutation 'R6629:Zfp652'
| ID |
525001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp652
|
| Ensembl Gene |
ENSMUSG00000075595 |
| Gene Name |
zinc finger protein 652 |
| Synonyms |
9530033F24Rik |
| MMRRC Submission |
044751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R6629 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
95639893-95655541 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95654616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 340
(N340Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091565]
[ENSMUST00000107717]
[ENSMUST00000133070]
[ENSMUST00000148945]
|
| AlphaFold |
Q5DU09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091565
AA Change: N520Y
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: N520Y
| 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 benign
Transcript: ENSMUST00000107717
AA Change: N520Y
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: N520Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000120170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133070
|
| SMART Domains |
Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595
| 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 damaging
Transcript: ENSMUST00000148945
AA Change: N340Y
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595
AA Change: N340Y
| 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 |
0.1762 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
All alleles(23) : Targeted(1) Gene trapped(22)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
| Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
| Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
| Cacul1 |
T |
C |
19: 60,568,805 (GRCm39) |
S118G |
probably benign |
Het |
| Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
| Cpa2 |
A |
T |
6: 30,554,193 (GRCm39) |
D271V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
| Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,330,168 (GRCm39) |
V284A |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
| Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
| Meltf |
A |
G |
16: 31,703,894 (GRCm39) |
Y207C |
probably damaging |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,504 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
| Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,506 (GRCm39) |
M117L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
| Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
| Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
| Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
| Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
| Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,499 (GRCm39) |
F80I |
probably benign |
Het |
| Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCGGCAAAAGCTTCAC -3'
(R):5'- TCAGAAAGGTGTCCTCGCTC -3'
Sequencing Primer
(F):5'- TGAAGAGGCACCGCAGAACTC -3'
(R):5'- CTCGCTCTGGCTTCTGTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation