Incidental Mutation 'IGL00228:Zfp574'
| ID |
2357 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp574
|
| Ensembl Gene |
ENSMUSG00000045252 |
| Gene Name |
zinc finger protein 574 |
| Synonyms |
A630056B21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24775099-24782917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24781015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 679
(V679A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053410]
[ENSMUST00000179556]
|
| AlphaFold |
Q8BY46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053410
AA Change: V679A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: V679A
| 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 benign
Transcript: ENSMUST00000179556
AA Change: V679A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: V679A
| 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 |
noncoding transcript
Transcript: ENSMUST00000206530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206733
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,566,298 (GRCm39) |
G731D |
possibly damaging |
Het |
| Adgre4 |
C |
T |
17: 56,109,135 (GRCm39) |
L381F |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,804 (GRCm39) |
T1538A |
probably benign |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,094 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,672,855 (GRCm39) |
N941S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,152 (GRCm39) |
I37V |
probably benign |
Het |
| Crtc1 |
T |
C |
8: 70,892,172 (GRCm39) |
K13E |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,461,508 (GRCm39) |
L673P |
probably damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,743,771 (GRCm39) |
V395I |
probably damaging |
Het |
| Def8 |
A |
G |
8: 124,186,389 (GRCm39) |
D400G |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,938,155 (GRCm39) |
D101G |
possibly damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,063,770 (GRCm39) |
M1L |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,575,398 (GRCm39) |
H501Y |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,248 (GRCm39) |
P499L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kyat3 |
G |
A |
3: 142,432,018 (GRCm39) |
V249I |
probably damaging |
Het |
| Med28 |
A |
G |
5: 45,680,812 (GRCm39) |
E92G |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,469 (GRCm39) |
L587* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,150,939 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,740,106 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,795 (GRCm39) |
I228T |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,728,537 (GRCm39) |
T305S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,710 (GRCm39) |
|
probably null |
Het |
| Rtca |
A |
G |
3: 116,298,110 (GRCm39) |
C100R |
probably damaging |
Het |
| Septin14 |
G |
T |
5: 129,760,715 (GRCm39) |
H377N |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,311,553 (GRCm39) |
N258I |
possibly damaging |
Het |
| Shisa4 |
A |
C |
1: 135,301,023 (GRCm39) |
S82R |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,029,814 (GRCm39) |
V167M |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spata18 |
G |
A |
5: 73,815,097 (GRCm39) |
E69K |
possibly damaging |
Het |
| Srsf2 |
A |
C |
11: 116,743,096 (GRCm39) |
|
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,597,066 (GRCm39) |
V335E |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,216 (GRCm39) |
V1399I |
probably benign |
Het |
| Topbp1 |
C |
T |
9: 103,222,142 (GRCm39) |
R1338C |
probably benign |
Het |
| Ugt1a5 |
A |
G |
1: 88,094,162 (GRCm39) |
E130G |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,181,526 (GRCm39) |
S219T |
probably damaging |
Het |
| Zbtb38 |
C |
A |
9: 96,569,547 (GRCm39) |
R512S |
probably damaging |
Het |
|
| Other mutations in Zfp574 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9533:Zfp574
|
UTSW |
7 |
24,780,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2011-12-09 |
Incidental Mutation