Incidental Mutation 'R5282:Zfp553'
| ID |
402820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp553
|
| Ensembl Gene |
ENSMUSG00000045598 |
| Gene Name |
zinc finger protein 553 |
| Synonyms |
2600009K23Rik, C330013F15Rik, ENSMUSG00000054461 |
| MMRRC Submission |
042867-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126832233-126837351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126836013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 523
(K523E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056232]
[ENSMUST00000106312]
[ENSMUST00000133913]
|
| AlphaFold |
Q3US17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056232
AA Change: K523E
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: K523E
| 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: ENSMUST00000106312
AA Change: K523E
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: K523E
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
T |
A |
9: 108,270,439 (GRCm39) |
M1K |
probably null |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,166 (GRCm39) |
L216S |
possibly damaging |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,220 (GRCm39) |
E85K |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,257,492 (GRCm39) |
F1153L |
probably damaging |
Het |
| Cbx8 |
A |
G |
11: 118,929,742 (GRCm39) |
S284P |
probably damaging |
Het |
| Cep128 |
A |
G |
12: 91,305,893 (GRCm39) |
L170P |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,126,959 (GRCm39) |
T324S |
probably damaging |
Het |
| Daw1 |
G |
T |
1: 83,170,419 (GRCm39) |
V244L |
probably benign |
Het |
| Eef2kmt |
A |
G |
16: 5,063,222 (GRCm39) |
V306A |
probably benign |
Het |
| Enah |
A |
T |
1: 181,763,293 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,683,949 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,808,925 (GRCm39) |
T1748I |
possibly damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,862,559 (GRCm39) |
G175D |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,458,047 (GRCm39) |
N33K |
probably damaging |
Het |
| Incenp |
T |
A |
19: 9,855,770 (GRCm39) |
E514V |
unknown |
Het |
| Kank3 |
T |
C |
17: 34,036,917 (GRCm39) |
S74P |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,051,206 (GRCm39) |
N515K |
probably benign |
Het |
| Mfsd13b |
G |
A |
7: 120,591,056 (GRCm39) |
D266N |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,998 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nub1 |
C |
A |
5: 24,900,533 (GRCm39) |
F145L |
probably benign |
Het |
| Nufip1 |
T |
C |
14: 76,351,715 (GRCm39) |
|
probably null |
Het |
| Pard6g |
T |
A |
18: 80,123,116 (GRCm39) |
V50E |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,703,379 (GRCm39) |
N431T |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,205 (GRCm39) |
T196S |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,865,029 (GRCm39) |
Y764C |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,908,550 (GRCm39) |
|
probably null |
Het |
| Smox |
T |
A |
2: 131,363,026 (GRCm39) |
V265D |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,678,510 (GRCm39) |
I105V |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,045,554 (GRCm39) |
D22G |
probably damaging |
Het |
| Tbck |
G |
A |
3: 132,456,977 (GRCm39) |
M630I |
possibly damaging |
Het |
| Tenm4 |
G |
C |
7: 96,486,538 (GRCm39) |
G965R |
possibly damaging |
Het |
| Trappc10 |
G |
A |
10: 78,023,694 (GRCm39) |
T1258I |
probably damaging |
Het |
| Tssk1 |
G |
A |
16: 17,713,123 (GRCm39) |
G303S |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,120,461 (GRCm39) |
Y313C |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,707,401 (GRCm39) |
T260M |
probably damaging |
Het |
| Wdr43 |
T |
A |
17: 71,955,772 (GRCm39) |
V479E |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,921,171 (GRCm39) |
T599I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGACGAAGCTCTGATCTG -3'
(R):5'- CAGCTGGTGACTCCTCCTTAAG -3'
Sequencing Primer
(F):5'- CAAAGGCTTTGCTGACAGTTC -3'
(R):5'- TCCTCCTTAAGGGGCCTTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation