Incidental Mutation 'R5098:Zfp652'
| ID |
388137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp652
|
| Ensembl Gene |
ENSMUSG00000075595 |
| Gene Name |
zinc finger protein 652 |
| Synonyms |
9530033F24Rik |
| MMRRC Submission |
042687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R5098 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
95639893-95655541 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95643762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 140
(V140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091565]
[ENSMUST00000107717]
[ENSMUST00000133070]
[ENSMUST00000148945]
|
| AlphaFold |
Q5DU09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091565
AA Change: V320A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: V320A
| 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 damaging
Transcript: ENSMUST00000107717
AA Change: V320A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: V320A
| 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 damaging
Transcript: ENSMUST00000133070
AA Change: V320A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595
AA Change: V320A
| 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: V140A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595
AA Change: V140A
| 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 |
0.3345 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
All alleles(23) : Targeted(1) Gene trapped(22)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,847,944 (GRCm39) |
I784V |
probably benign |
Het |
| Agxt |
A |
G |
1: 93,065,029 (GRCm39) |
H146R |
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,177 (GRCm39) |
F201L |
probably damaging |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,432 (GRCm39) |
M7K |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,660,917 (GRCm39) |
A1030V |
probably benign |
Het |
| Ccdc66 |
G |
A |
14: 27,220,750 (GRCm39) |
T58M |
probably damaging |
Het |
| Cd72 |
C |
T |
4: 43,452,610 (GRCm39) |
G74R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,113 (GRCm39) |
K749R |
probably damaging |
Het |
| Commd3 |
A |
T |
2: 18,678,988 (GRCm39) |
T102S |
possibly damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,304 (GRCm39) |
T270A |
possibly damaging |
Het |
| Dclre1b |
A |
G |
3: 103,716,452 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,061,459 (GRCm39) |
D380E |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,585,999 (GRCm39) |
E674G |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,640,101 (GRCm39) |
S128P |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,877,048 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
T |
C |
14: 49,286,304 (GRCm39) |
T108A |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,438 (GRCm39) |
S444P |
probably benign |
Het |
| Gm3327 |
A |
T |
14: 44,362,292 (GRCm39) |
I64F |
unknown |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr15 |
T |
A |
16: 58,538,890 (GRCm39) |
R66S |
probably damaging |
Het |
| Hmga1b |
T |
C |
11: 120,654,018 (GRCm39) |
S102P |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,669,083 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,467 (GRCm39) |
Y279C |
probably damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,816 (GRCm39) |
C22F |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,115,185 (GRCm39) |
D817V |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,381,926 (GRCm39) |
D588G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t6 |
A |
G |
14: 14,175,683 (GRCm38) |
V133A |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,420,976 (GRCm39) |
I31V |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,858 (GRCm39) |
D128G |
probably damaging |
Het |
| Pgap6 |
A |
T |
17: 26,337,902 (GRCm39) |
N429Y |
probably damaging |
Het |
| Ppil6 |
A |
G |
10: 41,366,616 (GRCm39) |
E47G |
probably null |
Het |
| Rad17 |
A |
T |
13: 100,754,154 (GRCm39) |
*689K |
probably null |
Het |
| Scin |
A |
T |
12: 40,127,541 (GRCm39) |
Y416* |
probably null |
Het |
| Serf1 |
A |
G |
13: 100,245,575 (GRCm39) |
T18A |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,906,891 (GRCm39) |
|
probably benign |
Het |
| Slc39a8 |
C |
A |
3: 135,563,918 (GRCm39) |
N254K |
probably benign |
Het |
| Spint3 |
A |
G |
2: 164,411,821 (GRCm39) |
F63L |
probably damaging |
Het |
| Suox |
A |
T |
10: 128,507,027 (GRCm39) |
S334T |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,228 (GRCm39) |
M265V |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,118,850 (GRCm39) |
L146P |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,717,047 (GRCm39) |
D330E |
probably benign |
Het |
| Ugt2a2 |
T |
C |
5: 87,612,040 (GRCm39) |
E290G |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,812 (GRCm39) |
T352S |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,930 (GRCm39) |
V249A |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,113,608 (GRCm39) |
D200G |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCTGGTCTTGTGCCATGAATC -3'
(R):5'- CACTGTCCAACCTGATCATGC -3'
Sequencing Primer
(F):5'- CTGGTCTTGTGCCATGAATCTAAAG -3'
(R):5'- CTGACTGCAGTATGCTGACTCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation