Incidental Mutation 'IGL03228:Zfp553'
ID |
413791 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp553
|
Ensembl Gene |
ENSMUSG00000045598 |
Gene Name |
zinc finger protein 553 |
Synonyms |
2600009K23Rik, C330013F15Rik, ENSMUSG00000054461 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03228
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126832233-126837351 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126835249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 268
(H268R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056232]
[ENSMUST00000106312]
[ENSMUST00000133913]
|
AlphaFold |
Q3US17 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056232
AA Change: H268R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060967 Gene: ENSMUSG00000045598 AA Change: H268R
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
83 |
105 |
5.9e-3 |
SMART |
ZnF_C2H2
|
111 |
133 |
6.32e-3 |
SMART |
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
ZnF_C2H2
|
163 |
185 |
4.17e-3 |
SMART |
ZnF_C2H2
|
191 |
213 |
5.5e-3 |
SMART |
low complexity region
|
219 |
239 |
N/A |
INTRINSIC |
ZnF_C2H2
|
246 |
268 |
1.45e-2 |
SMART |
ZnF_C2H2
|
274 |
296 |
4.17e-3 |
SMART |
ZnF_C2H2
|
302 |
324 |
3.89e-3 |
SMART |
ZnF_C2H2
|
330 |
352 |
1.36e-2 |
SMART |
low complexity region
|
364 |
392 |
N/A |
INTRINSIC |
low complexity region
|
394 |
419 |
N/A |
INTRINSIC |
ZnF_C2H2
|
423 |
445 |
3.21e-4 |
SMART |
ZnF_C2H2
|
451 |
473 |
3.89e-3 |
SMART |
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
ZnF_C2H2
|
516 |
538 |
9.08e-4 |
SMART |
ZnF_C2H2
|
544 |
566 |
5.42e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106312
AA Change: H268R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101919 Gene: ENSMUSG00000045598 AA Change: H268R
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
83 |
105 |
5.9e-3 |
SMART |
ZnF_C2H2
|
111 |
133 |
6.32e-3 |
SMART |
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
ZnF_C2H2
|
163 |
185 |
4.17e-3 |
SMART |
ZnF_C2H2
|
191 |
213 |
5.5e-3 |
SMART |
low complexity region
|
219 |
239 |
N/A |
INTRINSIC |
ZnF_C2H2
|
246 |
268 |
1.45e-2 |
SMART |
ZnF_C2H2
|
274 |
296 |
4.17e-3 |
SMART |
ZnF_C2H2
|
302 |
324 |
3.89e-3 |
SMART |
ZnF_C2H2
|
330 |
352 |
1.36e-2 |
SMART |
low complexity region
|
364 |
392 |
N/A |
INTRINSIC |
low complexity region
|
394 |
419 |
N/A |
INTRINSIC |
ZnF_C2H2
|
423 |
445 |
3.21e-4 |
SMART |
ZnF_C2H2
|
451 |
473 |
3.89e-3 |
SMART |
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
ZnF_C2H2
|
516 |
538 |
9.08e-4 |
SMART |
ZnF_C2H2
|
544 |
566 |
5.42e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205367
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205570
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit complete embryonic lethality during organogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid3a |
G |
A |
10: 79,786,578 (GRCm39) |
V444I |
possibly damaging |
Het |
Catsperg2 |
T |
C |
7: 29,397,650 (GRCm39) |
Y1021C |
probably damaging |
Het |
Cbx1 |
A |
G |
11: 96,691,631 (GRCm39) |
|
probably benign |
Het |
Cdk15 |
G |
T |
1: 59,297,912 (GRCm39) |
K106N |
possibly damaging |
Het |
Itpkb |
A |
T |
1: 180,241,564 (GRCm39) |
R745W |
probably damaging |
Het |
Kdr |
T |
A |
5: 76,117,708 (GRCm39) |
I682F |
probably damaging |
Het |
Klhl1 |
T |
A |
14: 96,477,763 (GRCm39) |
E435V |
probably damaging |
Het |
Lamp3 |
T |
A |
16: 19,494,817 (GRCm39) |
Y296F |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 55,999,408 (GRCm39) |
N10Y |
probably damaging |
Het |
Mmrn1 |
C |
T |
6: 60,921,876 (GRCm39) |
P111L |
probably benign |
Het |
Nt5c |
A |
G |
11: 115,381,987 (GRCm39) |
Y107H |
probably damaging |
Het |
Or2m12 |
A |
C |
16: 19,105,140 (GRCm39) |
L118V |
probably damaging |
Het |
Or5p53 |
T |
A |
7: 107,533,330 (GRCm39) |
I201N |
possibly damaging |
Het |
Or8h9 |
A |
G |
2: 86,789,050 (GRCm39) |
F251L |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,186,133 (GRCm39) |
S1679C |
probably damaging |
Het |
Plac8l1 |
T |
A |
18: 42,325,672 (GRCm39) |
S78C |
probably damaging |
Het |
Scyl2 |
A |
T |
10: 89,485,942 (GRCm39) |
I549N |
probably damaging |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Slc6a20b |
G |
T |
9: 123,461,197 (GRCm39) |
Y65* |
probably null |
Het |
Stx11 |
G |
A |
10: 12,816,956 (GRCm39) |
T256M |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,026,686 (GRCm39) |
C3505R |
probably benign |
Het |
Trim75 |
A |
G |
8: 65,436,006 (GRCm39) |
L148P |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,156,909 (GRCm39) |
N2311K |
probably damaging |
Het |
|
Other mutations in Zfp553 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01501:Zfp553
|
APN |
7 |
126,835,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01528:Zfp553
|
APN |
7 |
126,835,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R1051:Zfp553
|
UTSW |
7 |
126,835,977 (GRCm39) |
nonsense |
probably null |
|
R1859:Zfp553
|
UTSW |
7 |
126,834,517 (GRCm39) |
missense |
probably benign |
0.04 |
R1899:Zfp553
|
UTSW |
7 |
126,834,826 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4997:Zfp553
|
UTSW |
7 |
126,834,683 (GRCm39) |
missense |
probably benign |
0.15 |
R5090:Zfp553
|
UTSW |
7 |
126,834,659 (GRCm39) |
missense |
probably damaging |
0.98 |
R5282:Zfp553
|
UTSW |
7 |
126,836,013 (GRCm39) |
missense |
probably benign |
0.12 |
R5468:Zfp553
|
UTSW |
7 |
126,836,202 (GRCm39) |
missense |
probably benign |
|
R5576:Zfp553
|
UTSW |
7 |
126,835,875 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6334:Zfp553
|
UTSW |
7 |
126,836,064 (GRCm39) |
splice site |
probably null |
|
R6828:Zfp553
|
UTSW |
7 |
126,835,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R6974:Zfp553
|
UTSW |
7 |
126,835,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R7149:Zfp553
|
UTSW |
7 |
126,835,605 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7615:Zfp553
|
UTSW |
7 |
126,835,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R7922:Zfp553
|
UTSW |
7 |
126,835,768 (GRCm39) |
missense |
probably damaging |
0.99 |
R8103:Zfp553
|
UTSW |
7 |
126,835,936 (GRCm39) |
missense |
probably benign |
|
R8111:Zfp553
|
UTSW |
7 |
126,836,093 (GRCm39) |
nonsense |
probably null |
|
R8199:Zfp553
|
UTSW |
7 |
126,835,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R8390:Zfp553
|
UTSW |
7 |
126,835,476 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Zfp553
|
UTSW |
7 |
126,834,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |