Incidental Mutation 'R4280:Zfp28'
| ID |
322840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp28
|
| Ensembl Gene |
ENSMUSG00000062861 |
| Gene Name |
zinc finger protein 28 |
| Synonyms |
2810438M17Rik, mkr-5, Zfp-28 |
| MMRRC Submission |
041648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4280 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6386317-6399636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6396700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 378
(Q378H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081022]
|
| AlphaFold |
P10078 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081022
AA Change: Q378H
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000079812
Gene: ENSMUSG00000062861
AA Change: Q378H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
50 |
N/A |
INTRINSIC |
|
KRAB
|
103 |
163 |
3.53e-33 |
SMART |
|
ZnF_C2H2
|
377 |
399 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
433 |
456 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
546 |
568 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
574 |
596 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
602 |
624 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
630 |
652 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
658 |
680 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
686 |
708 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
714 |
736 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
742 |
764 |
2.4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207086
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208338
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208949
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap32 |
T |
C |
9: 32,171,185 (GRCm39) |
C1322R |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,741 (GRCm39) |
R292H |
probably damaging |
Het |
| Ccdc102a |
C |
A |
8: 95,634,444 (GRCm39) |
G382* |
probably null |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cep76 |
T |
A |
18: 67,773,229 (GRCm39) |
D23V |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,780 (GRCm39) |
M17V |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,340,892 (GRCm39) |
Y224C |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,645,930 (GRCm39) |
|
probably benign |
Het |
| Dgat2 |
A |
G |
7: 98,808,204 (GRCm39) |
I157T |
probably damaging |
Het |
| Epha1 |
G |
T |
6: 42,341,986 (GRCm39) |
P355T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,023,330 (GRCm39) |
V24A |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,881,761 (GRCm39) |
M771K |
probably damaging |
Het |
| Mov10 |
A |
C |
3: 104,707,095 (GRCm39) |
F635V |
probably damaging |
Het |
| Mtres1 |
A |
T |
10: 43,408,905 (GRCm39) |
F79L |
probably benign |
Het |
| Or10ag60 |
A |
G |
2: 87,438,595 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or5an9 |
A |
G |
19: 12,187,302 (GRCm39) |
Y124C |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,829,269 (GRCm39) |
|
probably null |
Het |
| Plscr1l1 |
T |
C |
9: 92,225,701 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,933,056 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
A |
6: 115,933,055 (GRCm39) |
|
probably benign |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Polq |
C |
A |
16: 36,902,419 (GRCm39) |
Q2205K |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Pramel24 |
A |
G |
4: 143,452,592 (GRCm39) |
T8A |
possibly damaging |
Het |
| Psma8 |
T |
A |
18: 14,854,292 (GRCm39) |
D57E |
probably benign |
Het |
| Rbm47 |
T |
C |
5: 66,183,520 (GRCm39) |
Y361C |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rrp36 |
G |
A |
17: 46,983,302 (GRCm39) |
T104I |
probably damaging |
Het |
| Rrs1 |
G |
A |
1: 9,616,364 (GRCm39) |
G206S |
probably damaging |
Het |
| Scgb2b6 |
A |
G |
7: 31,318,367 (GRCm39) |
|
noncoding transcript |
Het |
| Skint5 |
T |
A |
4: 113,799,749 (GRCm39) |
K126I |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,028,704 (GRCm39) |
G202D |
probably damaging |
Het |
| Supt5 |
G |
A |
7: 28,016,498 (GRCm39) |
R761W |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,184,294 (GRCm39) |
|
probably null |
Het |
| Tob1 |
T |
C |
11: 94,105,148 (GRCm39) |
V228A |
probably benign |
Het |
| Traj44 |
T |
C |
14: 54,411,148 (GRCm39) |
|
probably benign |
Het |
| Trps1 |
G |
A |
15: 50,709,478 (GRCm39) |
L291F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,310,658 (GRCm39) |
Q2078R |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
Het |
|
| Other mutations in Zfp28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Zfp28
|
APN |
7 |
6,396,429 (GRCm39) |
makesense |
probably null |
|
|
IGL02300:Zfp28
|
APN |
7 |
6,392,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02541:Zfp28
|
APN |
7 |
6,396,479 (GRCm39) |
nonsense |
probably null |
|
|
FR4340:Zfp28
|
UTSW |
7 |
6,397,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4342:Zfp28
|
UTSW |
7 |
6,397,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0442:Zfp28
|
UTSW |
7 |
6,397,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Zfp28
|
UTSW |
7 |
6,395,239 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0799:Zfp28
|
UTSW |
7 |
6,387,182 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1081:Zfp28
|
UTSW |
7 |
6,392,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1674:Zfp28
|
UTSW |
7 |
6,397,942 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1783:Zfp28
|
UTSW |
7 |
6,397,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Zfp28
|
UTSW |
7 |
6,397,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2186:Zfp28
|
UTSW |
7 |
6,397,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4281:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4283:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4331:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4379:Zfp28
|
UTSW |
7 |
6,396,441 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4380:Zfp28
|
UTSW |
7 |
6,396,441 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4505:Zfp28
|
UTSW |
7 |
6,397,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Zfp28
|
UTSW |
7 |
6,396,506 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4706:Zfp28
|
UTSW |
7 |
6,392,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5524:Zfp28
|
UTSW |
7 |
6,397,850 (GRCm39) |
splice site |
probably null |
|
|
R6269:Zfp28
|
UTSW |
7 |
6,396,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6981:Zfp28
|
UTSW |
7 |
6,397,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Zfp28
|
UTSW |
7 |
6,397,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Zfp28
|
UTSW |
7 |
6,386,456 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7312:Zfp28
|
UTSW |
7 |
6,386,593 (GRCm39) |
unclassified |
probably benign |
|
|
R7422:Zfp28
|
UTSW |
7 |
6,397,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Zfp28
|
UTSW |
7 |
6,396,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Zfp28
|
UTSW |
7 |
6,396,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Zfp28
|
UTSW |
7 |
6,392,828 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8704:Zfp28
|
UTSW |
7 |
6,397,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Zfp28
|
UTSW |
7 |
6,393,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8854:Zfp28
|
UTSW |
7 |
6,397,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9071:Zfp28
|
UTSW |
7 |
6,397,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9235:Zfp28
|
UTSW |
7 |
6,397,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Zfp28
|
UTSW |
7 |
6,397,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Zfp28
|
UTSW |
7 |
6,392,816 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9600:Zfp28
|
UTSW |
7 |
6,397,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9651:Zfp28
|
UTSW |
7 |
6,395,623 (GRCm39) |
missense |
|
|
|
R9653:Zfp28
|
UTSW |
7 |
6,395,623 (GRCm39) |
missense |
|
|
|
R9712:Zfp28
|
UTSW |
7 |
6,396,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Y4340:Zfp28
|
UTSW |
7 |
6,397,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp28
|
UTSW |
7 |
6,387,186 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGAGCCTTCTCAGAGGG -3'
(R):5'- AGTACCTCCAGTGACGAACGAG -3'
Sequencing Primer
(F):5'- CCTTCTCAGAGGGGAGAGATG -3'
(R):5'- GTATGAAAGCTTTGCCACACTCCG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation