Incidental Mutation 'R2323:Zfp558'
ID |
244809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp558
|
Ensembl Gene |
ENSMUSG00000074500 |
Gene Name |
zinc finger protein 558 |
Synonyms |
Zfp558-ps, 1700007A21Rik, 4932704I17Rik |
MMRRC Submission |
040314-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2323 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
18366871-18389564 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 18380573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034647]
[ENSMUST00000034647]
[ENSMUST00000159596]
|
AlphaFold |
E9Q1J0 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000034646
|
Predicted Effect |
probably null
Transcript: ENSMUST00000034647
|
SMART Domains |
Protein: ENSMUSP00000132305 Gene: ENSMUSG00000074500
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 null
Transcript: ENSMUST00000034647
|
SMART Domains |
Protein: ENSMUSP00000132305 Gene: ENSMUSG00000074500
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
Zscan18 |
T |
C |
7: 12,509,386 (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 |
IGL00722:Zfp558
|
APN |
9 |
18,367,817 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTGTCTCTCATATCCAAGG -3'
(R):5'- CAGTGTGCATCTTGAAGAAGGC -3'
Sequencing Primer
(F):5'- GTCTCTCATATCCAAGGACCACTGG -3'
(R):5'- GCTGAAAAGGGCTCATCCTC -3'
|
Posted On |
2014-10-30 |