Incidental Mutation 'IGL02530:Zfp57'
| ID |
297278 |
| 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 # |
IGL02530
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37312055-37321527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37317056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 45
(S45T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133821
(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 damaging
Transcript: ENSMUST00000069250
AA Change: S45T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: S45T
| 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: S42T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: S42T
| 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 |
possibly damaging
Transcript: ENSMUST00000172527
AA Change: S45T
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134116
Gene: ENSMUSG00000036036
AA Change: S45T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
62 |
1.87e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172540
AA Change: S42T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134024
Gene: ENSMUSG00000036036
AA Change: S42T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
12 |
72 |
9.05e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172580
AA Change: S42T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133894
Gene: ENSMUSG00000036036
AA Change: S42T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
12 |
72 |
9.05e-22 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
4.17e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174672
AA Change: S45T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: S45T
| 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
AA Change: S2T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135655
Gene: ENSMUSG00000036036
AA Change: S2T
| 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 damaging
Transcript: ENSMUST00000174524
AA Change: S45T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: S45T
| 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
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,124 (GRCm39) |
F305L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,398 (GRCm39) |
H1345R |
probably benign |
Het |
| Bloc1s5 |
A |
T |
13: 38,787,859 (GRCm39) |
M175K |
probably damaging |
Het |
| C9 |
T |
A |
15: 6,526,613 (GRCm39) |
M549K |
probably benign |
Het |
| Cfap52 |
A |
G |
11: 67,845,007 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,998,670 (GRCm39) |
K907N |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,752 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,551,294 (GRCm39) |
N307K |
possibly damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,515,849 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
G |
A |
14: 67,061,847 (GRCm39) |
T253I |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,252,293 (GRCm39) |
I835F |
probably damaging |
Het |
| Eif5a |
A |
T |
11: 69,809,989 (GRCm39) |
H51Q |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,539,422 (GRCm39) |
I637N |
probably damaging |
Het |
| Gpr173 |
T |
A |
X: 151,130,092 (GRCm39) |
H127L |
probably damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,969 (GRCm39) |
I203V |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,390,060 (GRCm39) |
K352E |
probably benign |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,984,510 (GRCm39) |
D483Y |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,058,943 (GRCm39) |
Y694H |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,935,160 (GRCm39) |
R219G |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,450,646 (GRCm39) |
|
probably benign |
Het |
| Or2y1f |
A |
T |
11: 49,184,555 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or8k33 |
C |
T |
2: 86,384,224 (GRCm39) |
M81I |
possibly damaging |
Het |
| Pax3 |
A |
T |
1: 78,098,424 (GRCm39) |
S322T |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,916,022 (GRCm39) |
V187A |
possibly damaging |
Het |
| Pot1a |
A |
T |
6: 25,794,592 (GRCm39) |
F31I |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,613,720 (GRCm39) |
|
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,385,343 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,560,522 (GRCm39) |
T1251A |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,634 (GRCm39) |
V148A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,598,969 (GRCm39) |
*1524W |
probably null |
Het |
| Son |
C |
A |
16: 91,455,359 (GRCm39) |
P1369T |
possibly damaging |
Het |
| Spp2 |
T |
A |
1: 88,338,868 (GRCm39) |
L25* |
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,090,976 (GRCm39) |
Q1405R |
probably damaging |
Het |
| Traf3ip2 |
G |
T |
10: 39,522,902 (GRCm39) |
A463S |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,960,617 (GRCm39) |
E27G |
probably damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,233,858 (GRCm39) |
V785I |
probably damaging |
Het |
| Zc3h8 |
A |
G |
2: 128,785,846 (GRCm39) |
|
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 |
|
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