Incidental Mutation 'RF053:Zfp69'
ID |
605180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp69
|
Ensembl Gene |
ENSMUSG00000064141 |
Gene Name |
zinc finger protein 69 |
Synonyms |
Zfp63, KRAB2, LOC381549 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF053 (G1)
|
Quality Score |
214.458 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
120787334-120808896 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC to GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC
at 120804544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106280]
[ENSMUST00000106281]
[ENSMUST00000130702]
|
AlphaFold |
A2A761 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106280
|
SMART Domains |
Protein: ENSMUSP00000101887 Gene: ENSMUSG00000064141
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
32 |
80 |
1.53e-8 |
PROSPERO |
KRAB
|
131 |
192 |
1.15e-32 |
SMART |
ZnF_C2H2
|
324 |
346 |
1.13e-4 |
SMART |
ZnF_C2H2
|
352 |
374 |
2.79e-4 |
SMART |
ZnF_C2H2
|
380 |
402 |
1.04e-3 |
SMART |
ZnF_C2H2
|
408 |
430 |
1.12e-3 |
SMART |
ZnF_C2H2
|
436 |
458 |
1.82e-3 |
SMART |
ZnF_C2H2
|
464 |
486 |
3.29e-1 |
SMART |
ZnF_C2H2
|
492 |
514 |
1.38e-3 |
SMART |
ZnF_C2H2
|
520 |
542 |
3.29e-1 |
SMART |
ZnF_C2H2
|
548 |
570 |
2.12e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106281
|
SMART Domains |
Protein: ENSMUSP00000101888 Gene: ENSMUSG00000064141
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
32 |
80 |
1.53e-8 |
PROSPERO |
KRAB
|
131 |
192 |
1.15e-32 |
SMART |
ZnF_C2H2
|
324 |
346 |
1.13e-4 |
SMART |
ZnF_C2H2
|
352 |
374 |
2.79e-4 |
SMART |
ZnF_C2H2
|
380 |
402 |
1.04e-3 |
SMART |
ZnF_C2H2
|
408 |
430 |
1.12e-3 |
SMART |
ZnF_C2H2
|
436 |
458 |
1.82e-3 |
SMART |
ZnF_C2H2
|
464 |
486 |
3.29e-1 |
SMART |
ZnF_C2H2
|
492 |
514 |
1.38e-3 |
SMART |
ZnF_C2H2
|
520 |
542 |
3.29e-1 |
SMART |
ZnF_C2H2
|
548 |
570 |
2.12e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130702
|
SMART Domains |
Protein: ENSMUSP00000133312 Gene: ENSMUSG00000064141
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
32 |
2.6e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
Abra |
TGGC |
T |
15: 41,729,695 (GRCm39) |
|
probably benign |
Het |
Blm |
CTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTC |
7: 80,162,669 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
TGAGGAG |
T |
9: 75,683,656 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
GGCTCTGGCTCTGGCTCTGGCTCTG |
GG |
8: 96,030,276 (GRCm39) |
|
probably null |
Het |
Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
Ehbp1l1 |
TCACACCACC |
T |
19: 5,766,030 (GRCm39) |
|
probably benign |
Het |
Kdm3a |
TTTTT |
TTTTTT |
6: 71,609,033 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CAGCCACCACAGC |
CAGCCACCACAGCCAAAGCCACCACAGC |
1: 83,019,999 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
CA |
CAGAA |
X: 70,162,458 (GRCm39) |
|
probably benign |
Het |
Map1a |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,771 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
Nefh |
GACTTGGCCTCACCT |
GACTTGGCCTCACCTCACCACTTGGCCTCACCT |
11: 4,891,014 (GRCm39) |
|
probably null |
Het |
Polr1has |
CACCAC |
CACCACCACCACCACCACCTCTACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
Rap1gds1 |
TCATTTATTATGACCATAC |
TC |
3: 138,647,418 (GRCm39) |
|
probably null |
Het |
Tcof1 |
C |
CAGA |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
Tfeb |
AGC |
AGCCGC |
17: 48,097,039 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCT |
TGCTGCTGCTGCTGCGGCT |
15: 72,673,177 (GRCm39) |
|
probably benign |
Het |
Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTAA |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zfp69 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01621:Zfp69
|
APN |
4 |
120,788,697 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02604:Zfp69
|
APN |
4 |
120,788,660 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03406:Zfp69
|
APN |
4 |
120,788,281 (GRCm39) |
missense |
probably benign |
|
R0505:Zfp69
|
UTSW |
4 |
120,788,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R0613:Zfp69
|
UTSW |
4 |
120,791,544 (GRCm39) |
missense |
probably benign |
|
R0628:Zfp69
|
UTSW |
4 |
120,806,622 (GRCm39) |
nonsense |
probably null |
|
R0838:Zfp69
|
UTSW |
4 |
120,788,478 (GRCm39) |
missense |
probably benign |
0.09 |
R1669:Zfp69
|
UTSW |
4 |
120,804,695 (GRCm39) |
utr 5 prime |
probably benign |
|
R2060:Zfp69
|
UTSW |
4 |
120,788,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R3740:Zfp69
|
UTSW |
4 |
120,788,071 (GRCm39) |
splice site |
probably null |
|
R4242:Zfp69
|
UTSW |
4 |
120,791,672 (GRCm39) |
intron |
probably benign |
|
R4770:Zfp69
|
UTSW |
4 |
120,791,614 (GRCm39) |
missense |
probably damaging |
0.99 |
R4998:Zfp69
|
UTSW |
4 |
120,804,522 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5620:Zfp69
|
UTSW |
4 |
120,787,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6312:Zfp69
|
UTSW |
4 |
120,806,714 (GRCm39) |
unclassified |
probably benign |
|
R6534:Zfp69
|
UTSW |
4 |
120,788,394 (GRCm39) |
missense |
probably benign |
0.05 |
R7056:Zfp69
|
UTSW |
4 |
120,788,295 (GRCm39) |
missense |
probably benign |
0.01 |
R7061:Zfp69
|
UTSW |
4 |
120,788,598 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7663:Zfp69
|
UTSW |
4 |
120,792,323 (GRCm39) |
missense |
probably benign |
0.17 |
R8169:Zfp69
|
UTSW |
4 |
120,787,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R8348:Zfp69
|
UTSW |
4 |
120,787,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R8389:Zfp69
|
UTSW |
4 |
120,806,549 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9182:Zfp69
|
UTSW |
4 |
120,792,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R9340:Zfp69
|
UTSW |
4 |
120,788,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTAACTTGCCTGGACTCC -3'
(R):5'- AGCTCTGCTATCCCATGATGC -3'
Sequencing Primer
(F):5'- GGACTCCCTCCATATTGAATTATTGG -3'
(R):5'- TGCTATCCCATGATGCTAATGG -3'
|
Posted On |
2019-12-04 |