Incidental Mutation 'R7937:Zfp28'
| ID |
648805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp28
|
| Ensembl Gene |
ENSMUSG00000062861 |
| Gene Name |
zinc finger protein 28 |
| Synonyms |
2810438M17Rik, mkr-5, Zfp-28 |
| MMRRC Submission |
045983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R7937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6386317-6399636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6396785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 407
(C407R)
|
| 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: C407R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079812
Gene: ENSMUSG00000062861
AA Change: C407R
| 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: 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
GTTGATCCATACA |
G |
2: 69,154,217 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,870,470 (GRCm39) |
T875K |
probably damaging |
Het |
| Armc8 |
G |
A |
9: 99,418,272 (GRCm39) |
T94I |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,977,624 (GRCm39) |
R2685* |
probably null |
Het |
| Bri3bp |
A |
T |
5: 125,531,395 (GRCm39) |
N114Y |
probably damaging |
Het |
| Camkk2 |
G |
T |
5: 122,902,097 (GRCm39) |
Q71K |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,765,736 (GRCm39) |
F49S |
|
Het |
| Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,464,963 (GRCm39) |
F633L |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,307,974 (GRCm39) |
W32R |
possibly damaging |
Het |
| Cntn5 |
G |
A |
9: 9,748,450 (GRCm39) |
T477I |
probably damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,202 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,408,511 (GRCm39) |
L53* |
probably null |
Het |
| Dnajc11 |
A |
G |
4: 152,034,909 (GRCm39) |
D44G |
probably damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,168 (GRCm39) |
F248S |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,517,123 (GRCm39) |
L422P |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fgd4 |
A |
G |
16: 16,287,637 (GRCm39) |
Y355H |
probably damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,820,823 (GRCm39) |
M237T |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,230,177 (GRCm39) |
K203N |
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,484,723 (GRCm39) |
D594G |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,679 (GRCm39) |
H493L |
probably benign |
Het |
| Gpatch3 |
G |
T |
4: 133,310,308 (GRCm39) |
V418L |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,766,670 (GRCm39) |
N376S |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,278,243 (GRCm39) |
Q3010R |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,318,067 (GRCm39) |
F223I |
possibly damaging |
Het |
| Marchf11 |
A |
G |
15: 26,409,323 (GRCm39) |
T341A |
probably damaging |
Het |
| Mllt10 |
A |
G |
2: 18,210,895 (GRCm39) |
K770E |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,838,128 (GRCm39) |
T453A |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,976,009 (GRCm39) |
T1359I |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,958,080 (GRCm39) |
K3E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,163,571 (GRCm39) |
F913L |
probably benign |
Het |
| Nlrx1 |
G |
T |
9: 44,176,086 (GRCm39) |
A48D |
probably damaging |
Het |
| Noc3l |
C |
G |
19: 38,783,447 (GRCm39) |
G643A |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,875 (GRCm39) |
R309G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,180,344 (GRCm39) |
N170K |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,567,639 (GRCm39) |
|
probably null |
Het |
| Phactr1 |
A |
G |
13: 43,231,205 (GRCm39) |
I247V |
unknown |
Het |
| Pid1 |
G |
T |
1: 84,093,745 (GRCm39) |
Q48K |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,699,233 (GRCm39) |
N794S |
probably benign |
Het |
| Ppox |
G |
A |
1: 171,107,546 (GRCm39) |
S123L |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,013,772 (GRCm39) |
D778E |
probably benign |
Het |
| Rgs13 |
A |
G |
1: 144,016,600 (GRCm39) |
Y48H |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,078 (GRCm39) |
M190L |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,247,482 (GRCm39) |
P935L |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,601,253 (GRCm39) |
I435T |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,996,648 (GRCm39) |
H51R |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,112,199 (GRCm39) |
L378P |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,973,226 (GRCm39) |
L155P |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,581,320 (GRCm39) |
T141A |
possibly damaging |
Het |
| Syt10 |
A |
T |
15: 89,666,820 (GRCm39) |
S510R |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,457,349 (GRCm39) |
F241L |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,816 (GRCm39) |
T143S |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,491 (GRCm39) |
N431S |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,746,615 (GRCm39) |
S1031P |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,858,799 (GRCm39) |
Y656C |
probably benign |
Het |
| Zfp804b |
C |
T |
5: 6,821,866 (GRCm39) |
R399Q |
possibly damaging |
Het |
| Zfp949 |
T |
A |
9: 88,451,323 (GRCm39) |
C298S |
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 |
|
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 |
|
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'- TCATTTGAACAGTTCAGACGAGAG -3'
(R):5'- GCACTCGTTGATGCTGAGTG -3'
Sequencing Primer
(F):5'- TTCAGACGAGAGAAGTCATAACTGTG -3'
(R):5'- GTGACACACTTCACACGTGTATGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation