Incidental Mutation 'R0788:Zfp57'
| ID |
76374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp57
|
| Ensembl Gene |
ENSMUSG00000036036 |
| Gene Name |
zinc finger protein 57 |
| Synonyms |
G19 |
| MMRRC Submission |
038968-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R0788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37312055-37321527 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 37317092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069250]
[ENSMUST00000089968]
[ENSMUST00000102665]
[ENSMUST00000172527]
[ENSMUST00000172540]
[ENSMUST00000172580]
[ENSMUST00000174672]
[ENSMUST00000173588]
[ENSMUST00000174524]
[ENSMUST00000174747]
[ENSMUST00000173921]
|
| AlphaFold |
Q8C6P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069250
|
| SMART Domains |
Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
3.9e-24 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
9.1e-6 |
SMART |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
264 |
286 |
4.2e-4 |
SMART |
|
ZnF_C2H2
|
313 |
333 |
9.2e-2 |
SMART |
|
low complexity region
|
377 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089968
|
| SMART Domains |
Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
12 |
72 |
9.05e-22 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
2.09e-3 |
SMART |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
261 |
283 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
310 |
330 |
2.17e1 |
SMART |
|
low complexity region
|
374 |
380 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102665
|
| SMART Domains |
Protein: ENSMUSP00000099726
Gene: ENSMUSG00000076439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
IGv
|
48 |
129 |
2.28e-16 |
SMART |
|
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
|
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172527
|
| SMART Domains |
Protein: ENSMUSP00000134116
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
62 |
1.87e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172540
|
| SMART Domains |
Protein: ENSMUSP00000134024
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
12 |
72 |
9.05e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172580
|
| SMART Domains |
Protein: ENSMUSP00000133894
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
12 |
72 |
9.05e-22 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
4.17e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174672
|
| SMART Domains |
Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
3.8e-24 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
8.9e-6 |
SMART |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
264 |
286 |
4.1e-4 |
SMART |
|
ZnF_C2H2
|
313 |
333 |
9e-2 |
SMART |
|
low complexity region
|
377 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173588
|
| SMART Domains |
Protein: ENSMUSP00000135655
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
32 |
3e-14 |
BLAST |
|
ZnF_C2H2
|
97 |
119 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
125 |
145 |
1.36e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174524
|
| SMART Domains |
Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
3.8e-24 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
8.9e-6 |
SMART |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
264 |
286 |
4.1e-4 |
SMART |
|
ZnF_C2H2
|
313 |
333 |
9e-2 |
SMART |
|
low complexity region
|
377 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174016
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173921
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.0%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some postnatal lethality with abnormal imprinting and fetal lethality observed in the homozygous offspring of homozygous females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,610,468 (GRCm39) |
Y380* |
probably null |
Het |
| 4931406B18Rik |
C |
A |
7: 43,148,623 (GRCm39) |
S196I |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 36,015,245 (GRCm39) |
S519P |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,173,219 (GRCm39) |
C397G |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,352,028 (GRCm39) |
S156P |
probably damaging |
Het |
| Bcl2l15 |
G |
T |
3: 103,740,794 (GRCm39) |
|
probably null |
Het |
| Brd9 |
T |
A |
13: 74,092,986 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,672 (GRCm39) |
I262R |
possibly damaging |
Het |
| Ccdc106 |
T |
C |
7: 5,060,533 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
G |
A |
8: 107,268,047 (GRCm39) |
V361M |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,809,332 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,225,468 (GRCm39) |
I559T |
possibly damaging |
Het |
| Cdkn2aip |
T |
A |
8: 48,166,798 (GRCm39) |
Q3L |
possibly damaging |
Het |
| Chd1 |
G |
T |
17: 15,927,376 (GRCm39) |
V10F |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,949,197 (GRCm39) |
K813E |
probably benign |
Het |
| Cttnbp2 |
G |
A |
6: 18,423,834 (GRCm39) |
T830I |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,854,588 (GRCm39) |
M23V |
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,401,886 (GRCm39) |
K59E |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,946,185 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,719,847 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Ear6 |
T |
A |
14: 52,091,487 (GRCm39) |
C11* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,477,020 (GRCm39) |
T1999M |
probably benign |
Het |
| Gsdmd |
T |
A |
15: 75,736,103 (GRCm39) |
C77* |
probably null |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
T |
1: 179,532,788 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,585,954 (GRCm39) |
I373T |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,902 (GRCm39) |
T509A |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,482 (GRCm39) |
P1354S |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,237,113 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
C |
T |
6: 122,858,495 (GRCm39) |
R113W |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,035 (GRCm39) |
Y261N |
possibly damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
| Per1 |
G |
A |
11: 68,992,185 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,132,354 (GRCm39) |
D130G |
probably null |
Het |
| Ppcs |
T |
C |
4: 119,279,375 (GRCm39) |
N59S |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,003,969 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ptprf |
T |
C |
4: 118,083,663 (GRCm39) |
T807A |
probably damaging |
Het |
| Rapgef2 |
A |
C |
3: 79,006,502 (GRCm39) |
F284V |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,060 (GRCm39) |
F544I |
probably damaging |
Het |
| Slfn3 |
G |
A |
11: 83,103,662 (GRCm39) |
G178S |
possibly damaging |
Het |
| Supt6 |
G |
A |
11: 78,098,598 (GRCm39) |
|
probably benign |
Het |
| Tas2r109 |
T |
A |
6: 132,957,264 (GRCm39) |
Q222L |
probably benign |
Het |
| Tekt4 |
A |
C |
17: 25,691,021 (GRCm39) |
D109A |
probably damaging |
Het |
| Tob2 |
C |
A |
15: 81,735,903 (GRCm39) |
R22L |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,653,282 (GRCm39) |
E178D |
possibly damaging |
Het |
| Ube2u |
C |
A |
4: 100,371,937 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,812 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
C |
11: 16,209,968 (GRCm39) |
F65L |
probably damaging |
Het |
| Znrf3 |
G |
T |
11: 5,231,320 (GRCm39) |
P731Q |
probably benign |
Het |
|
| Other mutations in Zfp57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Zfp57
|
APN |
17 |
37,320,514 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02172:Zfp57
|
APN |
17 |
37,320,481 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02351:Zfp57
|
APN |
17 |
37,320,919 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02358:Zfp57
|
APN |
17 |
37,320,919 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02530:Zfp57
|
APN |
17 |
37,317,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0891:Zfp57
|
UTSW |
17 |
37,317,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1457:Zfp57
|
UTSW |
17 |
37,316,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1898:Zfp57
|
UTSW |
17 |
37,320,650 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2064:Zfp57
|
UTSW |
17 |
37,320,568 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4794:Zfp57
|
UTSW |
17 |
37,321,022 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6200:Zfp57
|
UTSW |
17 |
37,321,303 (GRCm39) |
missense |
probably benign |
|
|
R6404:Zfp57
|
UTSW |
17 |
37,320,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Zfp57
|
UTSW |
17 |
37,316,942 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7942:Zfp57
|
UTSW |
17 |
37,320,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Zfp57
|
UTSW |
17 |
37,320,785 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8296:Zfp57
|
UTSW |
17 |
37,321,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Zfp57
|
UTSW |
17 |
37,320,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8679:Zfp57
|
UTSW |
17 |
37,320,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8768:Zfp57
|
UTSW |
17 |
37,317,077 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9120:Zfp57
|
UTSW |
17 |
37,320,650 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9412:Zfp57
|
UTSW |
17 |
37,320,814 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1088:Zfp57
|
UTSW |
17 |
37,321,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAGTCTTCCCAGCCATCCAGG -3'
(R):5'- ggcctccatgtgaacacCTAAGTG -3'
Sequencing Primer
(F):5'- TCCAGGACACCAGTCAGTTATG -3'
(R):5'- agcctcctctctgaaccc -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation