Incidental Mutation 'IGL00722:Zfp558'
| ID |
14979 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp558
|
| Ensembl Gene |
ENSMUSG00000074500 |
| Gene Name |
zinc finger protein 558 |
| Synonyms |
Zfp558-ps, 1700007A21Rik, 4932704I17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00722
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
18366871-18389564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18367817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 324
(P324T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034647]
[ENSMUST00000159596]
|
| AlphaFold |
E9Q1J0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034647
AA Change: P324T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132305
Gene: ENSMUSG00000074500
AA Change: P324T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
43 |
103 |
2.52e-29 |
SMART |
|
ZnF_C2H2
|
156 |
178 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
184 |
206 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
212 |
234 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
3.39e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159596
|
| SMART Domains |
Protein: ENSMUSP00000126946
Gene: ENSMUSG00000074500
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
43 |
100 |
1.24e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174973
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
T |
C |
12: 30,947,792 (GRCm39) |
D82G |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,862 (GRCm39) |
S714P |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,874,084 (GRCm39) |
I491T |
probably damaging |
Het |
| Frg2f1 |
C |
T |
4: 119,388,307 (GRCm39) |
R64K |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,940,479 (GRCm39) |
V216A |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,814,776 (GRCm39) |
V500F |
possibly damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,929,207 (GRCm39) |
I397V |
probably damaging |
Het |
| Rpusd4 |
T |
A |
9: 35,179,714 (GRCm39) |
V69D |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,380,204 (GRCm39) |
S1340P |
possibly damaging |
Het |
| Stk17b |
T |
C |
1: 53,803,299 (GRCm39) |
S167G |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,999,849 (GRCm39) |
D129G |
possibly damaging |
Het |
| Wdr44 |
T |
C |
X: 23,598,548 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp558 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00532:Zfp558
|
APN |
9 |
18,367,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0270:Zfp558
|
UTSW |
9 |
18,379,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0708:Zfp558
|
UTSW |
9 |
18,368,123 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1521:Zfp558
|
UTSW |
9 |
18,367,859 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1618:Zfp558
|
UTSW |
9 |
18,380,579 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2323:Zfp558
|
UTSW |
9 |
18,380,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2939:Zfp558
|
UTSW |
9 |
18,367,924 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4537:Zfp558
|
UTSW |
9 |
18,368,798 (GRCm39) |
missense |
probably null |
0.72 |
|
R4569:Zfp558
|
UTSW |
9 |
18,367,799 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4570:Zfp558
|
UTSW |
9 |
18,367,799 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4571:Zfp558
|
UTSW |
9 |
18,367,799 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4619:Zfp558
|
UTSW |
9 |
18,367,577 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5207:Zfp558
|
UTSW |
9 |
18,368,296 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5530:Zfp558
|
UTSW |
9 |
18,367,669 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6631:Zfp558
|
UTSW |
9 |
18,368,219 (GRCm39) |
nonsense |
probably null |
|
|
R7892:Zfp558
|
UTSW |
9 |
18,379,993 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8309:Zfp558
|
UTSW |
9 |
18,368,213 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9006:Zfp558
|
UTSW |
9 |
18,367,776 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-12-06 |
Incidental Mutation