Incidental Mutation 'R2186:Zfp28'
| ID |
237763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp28
|
| Ensembl Gene |
ENSMUSG00000062861 |
| Gene Name |
zinc finger protein 28 |
| Synonyms |
2810438M17Rik, mkr-5, Zfp-28 |
| MMRRC Submission |
040188-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R2186 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6386317-6399636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6397497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 644
(H644R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081022]
[ENSMUST00000161855]
|
| AlphaFold |
P10078 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081022
AA Change: H644R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079812
Gene: ENSMUSG00000062861
AA Change: H644R
| 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 |
noncoding transcript
Transcript: ENSMUST00000159318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160568
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161855
|
| SMART Domains |
Protein: ENSMUSP00000130202
Gene: ENSMUSG00000093536
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
|
| 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 |
0.0892 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 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 |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,340 (GRCm39) |
N29S |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,737 (GRCm39) |
V92A |
possibly damaging |
Het |
| Asgr1 |
G |
A |
11: 69,947,075 (GRCm39) |
R66Q |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,200,780 (GRCm39) |
Q796L |
probably damaging |
Het |
| Camk4 |
A |
C |
18: 33,315,394 (GRCm39) |
D307A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,938,468 (GRCm39) |
Y725C |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,679,876 (GRCm39) |
Q1119L |
probably damaging |
Het |
| Cep85l |
G |
A |
10: 53,224,714 (GRCm39) |
P292S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,462,576 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
C |
T |
9: 78,038,769 (GRCm39) |
T6M |
probably benign |
Het |
| Cts8 |
C |
A |
13: 61,399,545 (GRCm39) |
C138F |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,246,894 (GRCm39) |
E54* |
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,732,853 (GRCm39) |
D367E |
probably benign |
Het |
| Duoxa2 |
T |
C |
2: 122,129,655 (GRCm39) |
I45T |
probably damaging |
Het |
| EU599041 |
C |
T |
7: 42,875,333 (GRCm39) |
|
noncoding transcript |
Het |
| Exoc5 |
T |
C |
14: 49,252,936 (GRCm39) |
M561V |
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,514,290 (GRCm39) |
I296V |
probably damaging |
Het |
| Fbxl18 |
C |
T |
5: 142,864,516 (GRCm39) |
V686M |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,318 (GRCm39) |
S2088P |
probably damaging |
Het |
| Fus |
G |
A |
7: 127,584,706 (GRCm39) |
|
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,191,727 (GRCm39) |
I265L |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,347,183 (GRCm39) |
L2013V |
probably benign |
Het |
| Iqca1 |
T |
C |
1: 90,009,066 (GRCm39) |
K430R |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,759,524 (GRCm39) |
G82E |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,500 (GRCm39) |
C20R |
probably damaging |
Het |
| Kmt2c |
C |
A |
5: 25,492,110 (GRCm39) |
C852F |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,466 (GRCm39) |
K1199* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,211,643 (GRCm39) |
Y421C |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,375,914 (GRCm39) |
L96P |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,945,145 (GRCm39) |
F29S |
possibly damaging |
Het |
| Mlh1 |
T |
C |
9: 111,087,634 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,866,145 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,599,228 (GRCm39) |
T867A |
unknown |
Het |
| Sdk1 |
T |
A |
5: 142,032,047 (GRCm39) |
S1041T |
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,451,694 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,387,030 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,046,792 (GRCm39) |
S251P |
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,708 (GRCm39) |
Y392C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,758,220 (GRCm39) |
C338S |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,824,061 (GRCm39) |
|
probably null |
Het |
| Vnn1 |
A |
T |
10: 23,773,299 (GRCm39) |
I109L |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,528 (GRCm39) |
V1312A |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,817 (GRCm39) |
S507P |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,671,287 (GRCm39) |
V262A |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,962 (GRCm39) |
M1694K |
probably benign |
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 |
|
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'- AGGCAGAATATACACCTTGCTAG -3'
(R):5'- AAGTGTGCAGTCTGCCTGAAG -3'
Sequencing Primer
(F):5'- ATACACCTTGCTAGTCACTGGAGG -3'
(R):5'- CTCTGATGTACACTAAGGGACTGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation