Incidental Mutation 'IGL03406:Zfp69'
ID |
421592 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03406
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
120787334-120808896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120788281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 345
(T345A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106280]
[ENSMUST00000106281]
[ENSMUST00000130702]
|
AlphaFold |
A2A761 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106280
AA Change: T345A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101887 Gene: ENSMUSG00000064141 AA Change: T345A
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
AA Change: T345A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101888 Gene: ENSMUSG00000064141 AA Change: T345A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132839
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530016L24Rik |
T |
A |
12: 112,463,317 (GRCm39) |
|
probably null |
Het |
Adcy7 |
C |
T |
8: 89,044,947 (GRCm39) |
R228* |
probably null |
Het |
Cdcp1 |
T |
C |
9: 123,014,378 (GRCm39) |
H132R |
probably benign |
Het |
Cfap107 |
A |
G |
4: 144,150,414 (GRCm39) |
Y56H |
probably damaging |
Het |
Cyp4a32 |
T |
C |
4: 115,459,500 (GRCm39) |
I78T |
probably benign |
Het |
Fap |
A |
T |
2: 62,372,466 (GRCm39) |
|
probably benign |
Het |
Gad1-ps |
C |
T |
10: 99,280,641 (GRCm39) |
|
noncoding transcript |
Het |
Gli3 |
T |
C |
13: 15,823,166 (GRCm39) |
I296T |
probably damaging |
Het |
H2-Q2 |
T |
C |
17: 35,561,801 (GRCm39) |
V97A |
probably benign |
Het |
Hr |
T |
A |
14: 70,800,860 (GRCm39) |
|
probably null |
Het |
Itgax |
C |
T |
7: 127,748,370 (GRCm39) |
T1133I |
possibly damaging |
Het |
L3mbtl2 |
G |
A |
15: 81,566,194 (GRCm39) |
R339H |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,873,615 (GRCm39) |
K1726E |
possibly damaging |
Het |
Nlrc5 |
T |
C |
8: 95,203,483 (GRCm39) |
Y528H |
probably benign |
Het |
Nmnat3 |
G |
A |
9: 98,281,530 (GRCm39) |
G44D |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,815,044 (GRCm39) |
D366V |
probably damaging |
Het |
Or13a25 |
C |
A |
7: 140,247,424 (GRCm39) |
L68M |
probably damaging |
Het |
Pde4d |
A |
T |
13: 110,091,125 (GRCm39) |
|
probably benign |
Het |
Ptpn22 |
C |
A |
3: 103,819,332 (GRCm39) |
N795K |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,549,739 (GRCm39) |
V289D |
probably damaging |
Het |
Slc50a1 |
T |
C |
3: 89,177,408 (GRCm39) |
D40G |
possibly damaging |
Het |
Slco6b1 |
T |
C |
1: 96,875,310 (GRCm39) |
|
noncoding transcript |
Het |
Smarcad1 |
T |
A |
6: 65,069,510 (GRCm39) |
F530Y |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,747,684 (GRCm39) |
|
probably benign |
Het |
Supt16 |
A |
T |
14: 52,415,598 (GRCm39) |
I379N |
possibly damaging |
Het |
Tmem154 |
A |
G |
3: 84,591,567 (GRCm39) |
N39S |
probably benign |
Het |
Ubash3b |
T |
A |
9: 40,948,775 (GRCm39) |
Y180F |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
Zdhhc20 |
T |
C |
14: 58,076,556 (GRCm39) |
T366A |
probably benign |
Het |
Zfp456 |
A |
T |
13: 67,514,450 (GRCm39) |
C419S |
probably damaging |
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 |
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 |
RF053:Zfp69
|
UTSW |
4 |
120,804,544 (GRCm39) |
utr 5 prime |
probably benign |
|
|
Posted On |
2016-08-02 |