Incidental Mutation 'IGL01990:Zfp551'
| ID |
182033 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp551
|
| Ensembl Gene |
ENSMUSG00000034071 |
| Gene Name |
zinc finger protein 551 |
| Synonyms |
9630004E07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL01990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12149080-12156678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12156343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 25
(V25M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080348]
[ENSMUST00000120220]
|
| AlphaFold |
B2RUI1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080348
AA Change: V25M
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: V25M
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
48 |
109 |
2.3e-14 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
561 |
583 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
589 |
611 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
617 |
639 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
645 |
667 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
673 |
695 |
1.98e-4 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000120220
AA Change: V25M
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123877
AA Change: V8M
|
| 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 |
|---|
| Actl9 |
A |
G |
17: 33,653,068 (GRCm39) |
N376S |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
| Atf5 |
T |
G |
7: 44,462,473 (GRCm39) |
D217A |
probably damaging |
Het |
| Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,116 (GRCm39) |
R65C |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
| Gal3st1 |
G |
T |
11: 3,948,741 (GRCm39) |
W316L |
probably damaging |
Het |
| Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
| Khnyn |
T |
G |
14: 56,125,045 (GRCm39) |
I433S |
possibly damaging |
Het |
| Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
| Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
| Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
| Slc38a7 |
C |
T |
8: 96,571,590 (GRCm39) |
W213* |
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,203 (GRCm39) |
I240V |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
|
| Other mutations in Zfp551 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01470:Zfp551
|
APN |
7 |
12,152,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02511:Zfp551
|
APN |
7 |
12,150,602 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2001:Zfp551
|
UTSW |
7 |
12,150,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Zfp551
|
UTSW |
7 |
12,149,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4256:Zfp551
|
UTSW |
7 |
12,150,318 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4387:Zfp551
|
UTSW |
7 |
12,152,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Zfp551
|
UTSW |
7 |
12,150,087 (GRCm39) |
nonsense |
probably null |
|
|
R5536:Zfp551
|
UTSW |
7 |
12,149,488 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5874:Zfp551
|
UTSW |
7 |
12,150,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Zfp551
|
UTSW |
7 |
12,149,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6765:Zfp551
|
UTSW |
7 |
12,150,767 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6803:Zfp551
|
UTSW |
7 |
12,151,108 (GRCm39) |
nonsense |
probably null |
|
|
R6953:Zfp551
|
UTSW |
7 |
12,150,715 (GRCm39) |
nonsense |
probably null |
|
|
R7334:Zfp551
|
UTSW |
7 |
12,150,681 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7345:Zfp551
|
UTSW |
7 |
12,150,522 (GRCm39) |
missense |
probably benign |
|
|
R7502:Zfp551
|
UTSW |
7 |
12,149,725 (GRCm39) |
nonsense |
probably null |
|
|
R7772:Zfp551
|
UTSW |
7 |
12,152,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7776:Zfp551
|
UTSW |
7 |
12,152,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Zfp551
|
UTSW |
7 |
12,151,138 (GRCm39) |
nonsense |
probably null |
|
|
R8032:Zfp551
|
UTSW |
7 |
12,152,487 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8984:Zfp551
|
UTSW |
7 |
12,156,559 (GRCm39) |
unclassified |
probably benign |
|
|
R9082:Zfp551
|
UTSW |
7 |
12,151,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation