Incidental Mutation 'R4380:Zfp28'
ID |
325293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp28
|
Ensembl Gene |
ENSMUSG00000062861 |
Gene Name |
zinc finger protein 28 |
Synonyms |
2810438M17Rik, mkr-5, Zfp-28 |
MMRRC Submission |
041678-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R4380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
6386317-6399636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6396441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 292
(T292I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081022]
|
AlphaFold |
P10078 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081022
AA Change: T292I
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000079812 Gene: ENSMUSG00000062861 AA Change: T292I
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 |
0.0733 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310016G11Rik |
T |
C |
7: 44,326,580 (GRCm39) |
|
noncoding transcript |
Het |
Casc3 |
C |
A |
11: 98,713,857 (GRCm39) |
P363Q |
possibly damaging |
Het |
Cep162 |
C |
A |
9: 87,082,056 (GRCm39) |
R1283L |
probably damaging |
Het |
Clk3 |
C |
A |
9: 57,659,075 (GRCm39) |
W562L |
probably damaging |
Het |
Col17a1 |
G |
A |
19: 47,645,529 (GRCm39) |
T844M |
possibly damaging |
Het |
Dntt |
G |
C |
19: 41,041,672 (GRCm39) |
G452A |
probably damaging |
Het |
Dop1b |
G |
A |
16: 93,513,120 (GRCm39) |
V20I |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
Dync1li2 |
A |
T |
8: 105,154,798 (GRCm39) |
I270N |
probably damaging |
Het |
Egflam |
A |
T |
15: 7,273,350 (GRCm39) |
I575N |
possibly damaging |
Het |
Gldc |
G |
T |
19: 30,138,168 (GRCm39) |
|
probably benign |
Het |
Gm17067 |
C |
A |
7: 42,357,462 (GRCm39) |
V347L |
probably benign |
Het |
Gmds |
T |
A |
13: 32,101,679 (GRCm39) |
N304I |
probably benign |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,895,509 (GRCm39) |
T1686A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,013,683 (GRCm39) |
Q519L |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,248,285 (GRCm39) |
|
probably benign |
Het |
Mcfd2 |
C |
G |
17: 87,565,387 (GRCm39) |
G39R |
possibly damaging |
Het |
Mecom |
T |
C |
3: 30,041,219 (GRCm39) |
H125R |
probably damaging |
Het |
Nme7 |
A |
G |
1: 164,172,807 (GRCm39) |
T173A |
probably benign |
Het |
Or4s2b |
A |
G |
2: 88,508,615 (GRCm39) |
T132A |
possibly damaging |
Het |
Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
Pde1c |
T |
A |
6: 56,049,263 (GRCm39) |
R683S |
probably null |
Het |
Pkn2 |
A |
T |
3: 142,536,217 (GRCm39) |
|
probably benign |
Het |
Plppr4 |
T |
G |
3: 117,116,046 (GRCm39) |
T604P |
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,424,856 (GRCm39) |
I196F |
probably benign |
Het |
Slc34a2 |
C |
T |
5: 53,226,628 (GRCm39) |
P584S |
probably damaging |
Het |
Slco5a1 |
A |
T |
1: 13,009,392 (GRCm39) |
M361K |
probably damaging |
Het |
Snx4 |
T |
A |
16: 33,084,666 (GRCm39) |
I60N |
probably damaging |
Het |
Sp6 |
T |
C |
11: 96,912,572 (GRCm39) |
L95P |
probably damaging |
Het |
Stat5b |
A |
G |
11: 100,678,175 (GRCm39) |
F646S |
probably damaging |
Het |
Tbc1d1 |
T |
C |
5: 64,490,891 (GRCm39) |
M785T |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
Tnfsf8 |
A |
T |
4: 63,779,264 (GRCm39) |
C11* |
probably null |
Het |
Ttn |
A |
T |
2: 76,748,485 (GRCm39) |
V4188E |
probably damaging |
Het |
Ugt2b5 |
T |
A |
5: 87,275,753 (GRCm39) |
H366L |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,101,442 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,683,022 (GRCm39) |
Y3487C |
unknown |
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 |
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 |
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'- TATTCCGAGTGGCTCCTTCG -3'
(R):5'- GAGAAACTTTTACCTGAGTCACAG -3'
Sequencing Primer
(F):5'- TTCGTGCCAGCAAGACAG -3'
(R):5'- AGTTATGACTTCTCTCGTCTGAACTG -3'
|
Posted On |
2015-07-06 |