Incidental Mutation 'R9412:Zfp57'
| ID |
711878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp57
|
| Ensembl Gene |
ENSMUSG00000036036 |
| Gene Name |
zinc finger protein 57 |
| Synonyms |
G19 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.419)
|
| Stock # |
R9412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37312055-37321527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37320814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 223
(P223S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069250]
[ENSMUST00000089968]
[ENSMUST00000102665]
[ENSMUST00000167275]
[ENSMUST00000172527]
[ENSMUST00000172540]
[ENSMUST00000172580]
[ENSMUST00000173588]
[ENSMUST00000173921]
[ENSMUST00000174524]
[ENSMUST00000174672]
[ENSMUST00000174747]
|
| AlphaFold |
Q8C6P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069250
AA Change: P223S
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: P223S
| 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
AA Change: P220S
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: P220S
| 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 |
probably benign
Transcript: ENSMUST00000167275
|
| SMART Domains |
Protein: ENSMUSP00000129489
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 |
|
| 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: 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: ENSMUST00000173921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174524
AA Change: P223S
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: P223S
| 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: ENSMUST00000174672
AA Change: P223S
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: P223S
| 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: ENSMUST00000174747
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
A |
8: 13,604,695 (GRCm39) |
T203S |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,235,457 (GRCm39) |
E1136K |
possibly damaging |
Het |
| Abca6 |
C |
A |
11: 110,103,059 (GRCm39) |
R844L |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,221,753 (GRCm39) |
R207Q |
probably benign |
Het |
| Abcd4 |
T |
C |
12: 84,655,581 (GRCm39) |
R343G |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,855,564 (GRCm39) |
M1K |
probably null |
Het |
| Art3 |
A |
G |
5: 92,541,013 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,230 (GRCm39) |
M475T |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,940,201 (GRCm39) |
P992L |
possibly damaging |
Het |
| Dclk3 |
G |
A |
9: 111,311,819 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,881 (GRCm39) |
T288A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,703 (GRCm39) |
D2433G |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
| Fmnl2 |
G |
T |
2: 53,007,016 (GRCm39) |
R776L |
unknown |
Het |
| Fndc1 |
T |
A |
17: 7,991,198 (GRCm39) |
T833S |
unknown |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,117,589 (GRCm39) |
Y711C |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,351 (GRCm39) |
K145E |
probably damaging |
Het |
| Kdm5a |
A |
G |
6: 120,365,991 (GRCm39) |
Y377C |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,409,287 (GRCm39) |
T1611S |
probably damaging |
Het |
| Lrrc28 |
T |
A |
7: 67,181,512 (GRCm39) |
E241V |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,967,451 (GRCm39) |
Q596* |
probably null |
Het |
| Nrde2 |
C |
A |
12: 100,096,681 (GRCm39) |
E1040* |
probably null |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcdh15 |
CAGAGA |
CAGA |
10: 74,481,663 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
T |
G |
8: 41,740,788 (GRCm39) |
N972K |
probably damaging |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,755,772 (GRCm39) |
T222A |
probably damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,732,779 (GRCm39) |
K556N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,662,288 (GRCm39) |
T936A |
probably benign |
Het |
| Scap |
T |
C |
9: 110,207,673 (GRCm39) |
C461R |
possibly damaging |
Het |
| Scgb1b10 |
T |
A |
7: 31,800,627 (GRCm39) |
L72* |
probably null |
Het |
| Serpinb6c |
C |
A |
13: 34,081,371 (GRCm39) |
A93S |
probably benign |
Het |
| Serpinb9c |
C |
A |
13: 33,334,231 (GRCm39) |
L298F |
probably damaging |
Het |
| Slf2 |
A |
T |
19: 44,930,460 (GRCm39) |
E512D |
probably benign |
Het |
| Snapc3 |
C |
T |
4: 83,354,570 (GRCm39) |
H194Y |
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tert |
C |
T |
13: 73,797,046 (GRCm39) |
R1095W |
probably benign |
Het |
| Tut4 |
A |
T |
4: 108,414,561 (GRCm39) |
H46L |
|
Het |
| Unc13c |
T |
C |
9: 73,839,772 (GRCm39) |
I360V |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,693,329 (GRCm39) |
C235R |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,991,484 (GRCm39) |
I626F |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,954,213 (GRCm39) |
C792W |
probably damaging |
Het |
| Zfp787 |
T |
C |
7: 6,135,946 (GRCm39) |
T102A |
probably damaging |
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 |
|
R0788:Zfp57
|
UTSW |
17 |
37,317,092 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
Z1088:Zfp57
|
UTSW |
17 |
37,321,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTTATAGGCCCCGTTCATG -3'
(R):5'- CGACTCTTTGCAGCAGAAGTG -3'
Sequencing Primer
(F):5'- TCATGCCCTGAGTGTGGAAAG -3'
(R):5'- ACGTCTGAAGTGGATCTTGAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation