Incidental Mutation 'IGL01501:Zfp553'
ID |
278544 |
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 # |
IGL01501
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126832233-126837351 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 126835387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 314
(S314I)
|
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: S314I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000060967 Gene: ENSMUSG00000045598 AA Change: S314I
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: S314I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101919 Gene: ENSMUSG00000045598 AA Change: S314I
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
T |
A |
8: 25,404,369 (GRCm39) |
N212I |
probably damaging |
Het |
Adgre4 |
T |
G |
17: 56,109,002 (GRCm39) |
|
probably benign |
Het |
Amer3 |
G |
A |
1: 34,627,398 (GRCm39) |
V546M |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,476,308 (GRCm39) |
S1504P |
possibly damaging |
Het |
D630003M21Rik |
G |
A |
2: 158,042,987 (GRCm39) |
A851V |
probably benign |
Het |
Ddhd2 |
A |
T |
8: 26,225,857 (GRCm39) |
M500K |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,146,370 (GRCm39) |
S191P |
probably benign |
Het |
Gabrg3 |
T |
C |
7: 56,374,214 (GRCm39) |
T451A |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,356,858 (GRCm39) |
M35L |
probably damaging |
Het |
Il6st |
A |
G |
13: 112,616,593 (GRCm39) |
I47V |
probably benign |
Het |
Klk1b11 |
A |
T |
7: 43,649,258 (GRCm39) |
|
probably benign |
Het |
Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
Or4f14b |
A |
G |
2: 111,774,863 (GRCm39) |
*313Q |
probably null |
Het |
Or5i1 |
T |
A |
2: 87,613,480 (GRCm39) |
W199R |
possibly damaging |
Het |
Ptprz1 |
A |
T |
6: 22,973,081 (GRCm39) |
N283I |
probably damaging |
Het |
Slc25a33 |
T |
C |
4: 149,840,615 (GRCm39) |
|
probably benign |
Het |
Snap91 |
T |
C |
9: 86,720,178 (GRCm39) |
M120V |
probably damaging |
Het |
Tbc1d8 |
G |
A |
1: 39,428,416 (GRCm39) |
R510C |
probably damaging |
Het |
Thoc1 |
T |
C |
18: 9,986,321 (GRCm39) |
L351P |
possibly damaging |
Het |
Tmco5b |
A |
G |
2: 113,121,726 (GRCm39) |
K180R |
probably null |
Het |
Zgrf1 |
G |
A |
3: 127,396,211 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zfp553 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01528:Zfp553
|
APN |
7 |
126,835,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03228:Zfp553
|
APN |
7 |
126,835,249 (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 |
2015-04-16 |