Incidental Mutation 'R1081:Zfp28'
ID |
152693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp28
|
Ensembl Gene |
ENSMUSG00000062861 |
Gene Name |
zinc finger protein 28 |
Synonyms |
2810438M17Rik, mkr-5, Zfp-28 |
MMRRC Submission |
039167-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R1081 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
6386317-6399636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6392779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 152
(I152V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081022]
|
AlphaFold |
P10078 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081022
AA Change: I152V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079812 Gene: ENSMUSG00000062861 AA Change: I152V
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 |
unknown
Transcript: ENSMUST00000207465
AA Change: I17V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207809
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208338
AA Change: I9V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208949
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
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 |
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 |
R4280:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
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'- CATGCCTGTGGTAGTGGAACCTTC -3'
(R):5'- GCCCGCATTATGTGTTGCATGAG -3'
Sequencing Primer
(F):5'- GTGGAACCTTCCATTTATTCTCC -3'
(R):5'- tctgctgtcctcttctaccc -3'
|
Posted On |
2014-01-29 |