Incidental Mutation 'IGL02351:Zfp57'
| ID |
289466 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp57
|
| Ensembl Gene |
ENSMUSG00000036036 |
| Gene Name |
zinc finger protein 57 |
| Synonyms |
G19 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.419)
|
| Stock # |
IGL02351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37312055-37321527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37320919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 258
(V258I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069250]
[ENSMUST00000089968]
[ENSMUST00000102665]
[ENSMUST00000167275]
[ENSMUST00000172527]
[ENSMUST00000172540]
[ENSMUST00000174672]
[ENSMUST00000174524]
[ENSMUST00000173921]
[ENSMUST00000174747]
[ENSMUST00000172580]
[ENSMUST00000173588]
|
| AlphaFold |
Q8C6P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069250
AA Change: V258I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: V258I
| 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: V255I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: V255I
| 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 |
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: ENSMUST00000174672
AA Change: V258I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: V258I
| 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: ENSMUST00000174524
AA Change: V258I
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: V258I
| 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: ENSMUST00000173921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174747
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,474,418 (GRCm39) |
T448A |
possibly damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,075,110 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
A |
G |
5: 50,215,900 (GRCm39) |
V73A |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,489,358 (GRCm39) |
|
probably benign |
Het |
| Aktip |
C |
T |
8: 91,853,520 (GRCm39) |
V96I |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,433,476 (GRCm39) |
I258T |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,273,160 (GRCm39) |
T1428I |
probably damaging |
Het |
| C3ar1 |
A |
T |
6: 122,826,934 (GRCm39) |
Y428N |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,597,380 (GRCm38) |
S437P |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Cenpq |
A |
G |
17: 41,235,223 (GRCm39) |
L213P |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,446,504 (GRCm39) |
|
probably null |
Het |
| Cln6 |
A |
G |
9: 62,754,407 (GRCm39) |
I150V |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,045,136 (GRCm39) |
T94A |
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,605,861 (GRCm39) |
M345T |
probably damaging |
Het |
| Dapk2 |
T |
A |
9: 66,153,805 (GRCm39) |
I187N |
probably damaging |
Het |
| Dkk2 |
A |
G |
3: 131,883,673 (GRCm39) |
D191G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,986,785 (GRCm39) |
F3145I |
probably damaging |
Het |
| Dock1 |
A |
C |
7: 134,710,548 (GRCm39) |
D1190A |
possibly damaging |
Het |
| Ehhadh |
T |
A |
16: 21,581,620 (GRCm39) |
L457F |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,497 (GRCm39) |
L552P |
probably damaging |
Het |
| Ghrhr |
T |
G |
6: 55,361,138 (GRCm39) |
I284S |
probably damaging |
Het |
| Gm10288 |
A |
T |
3: 146,544,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gp6 |
T |
G |
7: 4,397,507 (GRCm39) |
I19L |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,456,206 (GRCm39) |
S698L |
possibly damaging |
Het |
| Ifng |
A |
T |
10: 118,278,410 (GRCm39) |
I53F |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 141,874,327 (GRCm39) |
|
probably null |
Het |
| Khk |
A |
T |
5: 31,085,848 (GRCm39) |
I136F |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,788,027 (GRCm39) |
N98Y |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,042,679 (GRCm39) |
|
probably null |
Het |
| Lta4h |
A |
T |
10: 93,314,329 (GRCm39) |
N467I |
probably benign |
Het |
| Mcmbp |
C |
A |
7: 128,311,505 (GRCm39) |
|
probably null |
Het |
| Me2 |
A |
T |
18: 73,931,038 (GRCm39) |
I85K |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,353,649 (GRCm39) |
Y525N |
probably damaging |
Het |
| Nt5e |
G |
A |
9: 88,209,946 (GRCm39) |
V70M |
probably damaging |
Het |
| Or52e4 |
G |
A |
7: 104,706,182 (GRCm39) |
G243D |
probably damaging |
Het |
| Or8b36 |
A |
T |
9: 37,937,332 (GRCm39) |
I77L |
possibly damaging |
Het |
| Or9k7 |
T |
G |
10: 130,046,603 (GRCm39) |
Y132S |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,129 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
T |
11: 85,236,541 (GRCm39) |
E440V |
probably damaging |
Het |
| Pramel32 |
A |
T |
4: 88,546,127 (GRCm39) |
I405N |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,915,572 (GRCm39) |
E1047D |
probably damaging |
Het |
| Rwdd2b |
G |
A |
16: 87,234,336 (GRCm39) |
A18V |
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,068,384 (GRCm39) |
K148N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,036,976 (GRCm39) |
K1154E |
probably benign |
Het |
| Skap1 |
T |
A |
11: 96,599,382 (GRCm39) |
|
probably null |
Het |
| Spcs2 |
T |
C |
7: 99,498,241 (GRCm39) |
K81R |
probably damaging |
Het |
| Stt3b |
T |
A |
9: 115,079,975 (GRCm39) |
M646L |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,646,195 (GRCm39) |
T1169A |
probably benign |
Het |
| Susd1 |
A |
T |
4: 59,427,985 (GRCm39) |
Y66* |
probably null |
Het |
| Trim34a |
T |
A |
7: 103,910,441 (GRCm39) |
C414* |
probably null |
Het |
| Trim58 |
G |
A |
11: 58,542,176 (GRCm39) |
G379S |
probably damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,787,002 (GRCm39) |
Q35L |
probably benign |
Het |
| Zfp418 |
T |
C |
7: 7,177,690 (GRCm39) |
|
probably benign |
Het |
| Zng1 |
A |
T |
19: 24,909,026 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation