Incidental Mutation 'R9533:Zfp574'
ID |
719562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp574
|
Ensembl Gene |
ENSMUSG00000045252 |
Gene Name |
zinc finger protein 574 |
Synonyms |
A630056B21Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9533 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24775099-24782917 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24780379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 467
(G467D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053410]
[ENSMUST00000179556]
|
AlphaFold |
Q8BY46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053410
AA Change: G467D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057817 Gene: ENSMUSG00000045252 AA Change: G467D
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
16 |
38 |
4.98e-1 |
SMART |
ZnF_C2H2
|
76 |
98 |
4.05e-1 |
SMART |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
ZnF_C2H2
|
126 |
148 |
1.99e0 |
SMART |
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
ZnF_C2H2
|
213 |
235 |
4.4e-2 |
SMART |
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
ZnF_C2H2
|
312 |
334 |
7.15e-2 |
SMART |
ZnF_C2H2
|
339 |
361 |
1.04e-3 |
SMART |
ZnF_C2H2
|
367 |
389 |
4.12e0 |
SMART |
ZnF_C2H2
|
395 |
416 |
2.12e1 |
SMART |
low complexity region
|
418 |
434 |
N/A |
INTRINSIC |
ZnF_C2H2
|
469 |
492 |
1.03e-2 |
SMART |
ZnF_C2H2
|
498 |
520 |
2.75e-3 |
SMART |
ZnF_C2H2
|
526 |
548 |
3.39e-3 |
SMART |
ZnF_C2H2
|
554 |
576 |
2.75e-3 |
SMART |
ZnF_C2H2
|
582 |
604 |
2.86e-1 |
SMART |
ZnF_C2H2
|
610 |
633 |
1.25e-1 |
SMART |
ZnF_C2H2
|
639 |
659 |
4.5e1 |
SMART |
low complexity region
|
660 |
666 |
N/A |
INTRINSIC |
ZnF_C2H2
|
670 |
692 |
2.29e0 |
SMART |
ZnF_C2H2
|
742 |
764 |
2.91e-2 |
SMART |
ZnF_C2H2
|
770 |
792 |
5.59e-4 |
SMART |
ZnF_C2H2
|
798 |
820 |
3.34e-2 |
SMART |
ZnF_C2H2
|
826 |
848 |
4.24e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179556
AA Change: G467D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136547 Gene: ENSMUSG00000045252 AA Change: G467D
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
16 |
38 |
4.98e-1 |
SMART |
ZnF_C2H2
|
76 |
98 |
4.05e-1 |
SMART |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
ZnF_C2H2
|
126 |
148 |
1.99e0 |
SMART |
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
ZnF_C2H2
|
213 |
235 |
4.4e-2 |
SMART |
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
ZnF_C2H2
|
312 |
334 |
7.15e-2 |
SMART |
ZnF_C2H2
|
339 |
361 |
1.04e-3 |
SMART |
ZnF_C2H2
|
367 |
389 |
4.12e0 |
SMART |
ZnF_C2H2
|
395 |
416 |
2.12e1 |
SMART |
low complexity region
|
418 |
434 |
N/A |
INTRINSIC |
ZnF_C2H2
|
469 |
492 |
1.03e-2 |
SMART |
ZnF_C2H2
|
498 |
520 |
2.75e-3 |
SMART |
ZnF_C2H2
|
526 |
548 |
3.39e-3 |
SMART |
ZnF_C2H2
|
554 |
576 |
2.75e-3 |
SMART |
ZnF_C2H2
|
582 |
604 |
2.86e-1 |
SMART |
ZnF_C2H2
|
610 |
633 |
1.25e-1 |
SMART |
ZnF_C2H2
|
639 |
659 |
4.5e1 |
SMART |
low complexity region
|
660 |
666 |
N/A |
INTRINSIC |
ZnF_C2H2
|
670 |
692 |
2.29e0 |
SMART |
ZnF_C2H2
|
742 |
764 |
2.91e-2 |
SMART |
ZnF_C2H2
|
770 |
792 |
5.59e-4 |
SMART |
ZnF_C2H2
|
798 |
820 |
3.34e-2 |
SMART |
ZnF_C2H2
|
826 |
848 |
4.24e-4 |
SMART |
|
Meta Mutation Damage Score |
0.1000 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
C |
T |
11: 110,102,582 (GRCm39) |
V881I |
probably benign |
Het |
Acot1 |
C |
T |
12: 84,063,988 (GRCm39) |
S57F |
|
Het |
Actr3 |
T |
C |
1: 125,339,048 (GRCm39) |
I97V |
probably benign |
Het |
C4b |
A |
T |
17: 34,956,698 (GRCm39) |
C633* |
probably null |
Het |
Cdh19 |
T |
A |
1: 110,817,589 (GRCm39) |
T718S |
probably damaging |
Het |
Coasy |
T |
A |
11: 100,975,852 (GRCm39) |
S355T |
probably benign |
Het |
Coch |
A |
G |
12: 51,650,132 (GRCm39) |
I374V |
possibly damaging |
Het |
Dhrs7l |
C |
T |
12: 72,675,050 (GRCm39) |
|
probably benign |
Het |
Dip2b |
T |
A |
15: 100,073,178 (GRCm39) |
M760K |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,957,566 (GRCm39) |
Y428H |
probably damaging |
Het |
Fst |
G |
A |
13: 114,592,397 (GRCm39) |
R107* |
probably null |
Het |
Gba1 |
A |
G |
3: 89,114,756 (GRCm39) |
T387A |
probably benign |
Het |
Gid8 |
A |
T |
2: 180,358,713 (GRCm39) |
Q126L |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,383,929 (GRCm39) |
V1045A |
possibly damaging |
Het |
Kif23 |
G |
A |
9: 61,832,924 (GRCm39) |
S535L |
probably benign |
Het |
Krt79 |
G |
A |
15: 101,848,417 (GRCm39) |
A78V |
possibly damaging |
Het |
Lama2 |
A |
G |
10: 26,862,871 (GRCm39) |
F2964S |
probably damaging |
Het |
Lamp3 |
T |
C |
16: 19,519,808 (GRCm39) |
D125G |
probably benign |
Het |
Lrrc15 |
C |
T |
16: 30,092,637 (GRCm39) |
G234D |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,108,297 (GRCm39) |
V1188A |
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,473,729 (GRCm39) |
T37A |
probably benign |
Het |
Nlrp1b |
T |
C |
11: 71,109,095 (GRCm39) |
I135M |
probably benign |
Het |
Or2a51 |
A |
G |
6: 43,178,991 (GRCm39) |
R138G |
probably benign |
Het |
Or6c69 |
T |
A |
10: 129,747,404 (GRCm39) |
I248F |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,789,725 (GRCm39) |
Y514C |
probably damaging |
Het |
Pcdha5 |
A |
G |
18: 37,093,986 (GRCm39) |
N165S |
probably damaging |
Het |
Phf10 |
G |
C |
17: 15,175,366 (GRCm39) |
H157D |
probably damaging |
Het |
Ppip5k2 |
C |
T |
1: 97,661,792 (GRCm39) |
R708H |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,698,692 (GRCm39) |
S408P |
unknown |
Het |
Rab3a |
A |
T |
8: 71,209,804 (GRCm39) |
Y123F |
probably damaging |
Het |
Rbak |
A |
T |
5: 143,160,172 (GRCm39) |
S294T |
probably damaging |
Het |
Sarm1 |
T |
C |
11: 78,373,996 (GRCm39) |
D677G |
probably damaging |
Het |
Scly |
A |
T |
1: 91,228,413 (GRCm39) |
|
probably benign |
Het |
Slc26a6 |
T |
C |
9: 108,735,481 (GRCm39) |
V385A |
probably damaging |
Het |
Slc66a2 |
T |
C |
18: 80,327,034 (GRCm39) |
V209A |
unknown |
Het |
Srp72 |
T |
C |
5: 77,128,274 (GRCm39) |
V165A |
probably benign |
Het |
Tars3 |
A |
C |
7: 65,333,808 (GRCm39) |
|
probably null |
Het |
Tspan1 |
T |
A |
4: 116,020,211 (GRCm39) |
M233L |
probably benign |
Het |
Zfp85 |
A |
G |
13: 67,897,722 (GRCm39) |
S117P |
probably benign |
Het |
Zfp932 |
C |
G |
5: 110,157,787 (GRCm39) |
P495R |
probably damaging |
Het |
|
Other mutations in Zfp574 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Zfp574
|
APN |
7 |
24,781,015 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02370:Zfp574
|
APN |
7 |
24,779,014 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02706:Zfp574
|
APN |
7 |
24,780,790 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03119:Zfp574
|
APN |
7 |
24,779,898 (GRCm39) |
missense |
probably benign |
|
glue
|
UTSW |
7 |
24,780,515 (GRCm39) |
missense |
|
|
BB004:Zfp574
|
UTSW |
7 |
24,779,572 (GRCm39) |
missense |
probably benign |
|
BB014:Zfp574
|
UTSW |
7 |
24,779,572 (GRCm39) |
missense |
probably benign |
|
R0866:Zfp574
|
UTSW |
7 |
24,779,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R2429:Zfp574
|
UTSW |
7 |
24,779,482 (GRCm39) |
nonsense |
probably null |
|
R3123:Zfp574
|
UTSW |
7 |
24,781,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3124:Zfp574
|
UTSW |
7 |
24,781,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3125:Zfp574
|
UTSW |
7 |
24,781,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4581:Zfp574
|
UTSW |
7 |
24,780,738 (GRCm39) |
missense |
probably damaging |
0.98 |
R4591:Zfp574
|
UTSW |
7 |
24,778,969 (GRCm39) |
start gained |
probably benign |
|
R4915:Zfp574
|
UTSW |
7 |
24,780,151 (GRCm39) |
missense |
probably damaging |
0.98 |
R4953:Zfp574
|
UTSW |
7 |
24,780,388 (GRCm39) |
missense |
probably damaging |
0.97 |
R5305:Zfp574
|
UTSW |
7 |
24,780,515 (GRCm39) |
missense |
|
|
R5541:Zfp574
|
UTSW |
7 |
24,781,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R5934:Zfp574
|
UTSW |
7 |
24,779,757 (GRCm39) |
missense |
probably benign |
|
R6088:Zfp574
|
UTSW |
7 |
24,779,764 (GRCm39) |
missense |
probably benign |
0.01 |
R7061:Zfp574
|
UTSW |
7 |
24,779,622 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7563:Zfp574
|
UTSW |
7 |
24,780,777 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7615:Zfp574
|
UTSW |
7 |
24,780,001 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7927:Zfp574
|
UTSW |
7 |
24,779,572 (GRCm39) |
missense |
probably benign |
|
R8017:Zfp574
|
UTSW |
7 |
24,780,095 (GRCm39) |
nonsense |
probably null |
|
R8019:Zfp574
|
UTSW |
7 |
24,780,095 (GRCm39) |
nonsense |
probably null |
|
R8788:Zfp574
|
UTSW |
7 |
24,779,816 (GRCm39) |
missense |
unknown |
|
R8871:Zfp574
|
UTSW |
7 |
24,780,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R8915:Zfp574
|
UTSW |
7 |
24,780,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R9484:Zfp574
|
UTSW |
7 |
24,781,404 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9606:Zfp574
|
UTSW |
7 |
24,780,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R9623:Zfp574
|
UTSW |
7 |
24,780,515 (GRCm39) |
missense |
|
|
X0026:Zfp574
|
UTSW |
7 |
24,780,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGGAAGACCTTTGTTAACCTC -3'
(R):5'- CTGGTGAGTTGAAAGGCTTAGAGC -3'
Sequencing Primer
(F):5'- GGAAGACCTTTGTTAACCTCACCAAG -3'
(R):5'- GCTTAGAGCAGTCAGGGC -3'
|
Posted On |
2022-07-18 |