Incidental Mutation 'R6404:Zfp57'
ID |
518919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp57
|
Ensembl Gene |
ENSMUSG00000036036 |
Gene Name |
zinc finger protein 57 |
Synonyms |
G19 |
MMRRC Submission |
044549-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.366)
|
Stock # |
R6404 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
37312055-37321527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37320716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 190
(H190L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069250]
[ENSMUST00000089968]
[ENSMUST00000102665]
[ENSMUST00000167275]
[ENSMUST00000172527]
[ENSMUST00000172540]
[ENSMUST00000174524]
[ENSMUST00000174672]
[ENSMUST00000173921]
[ENSMUST00000173588]
[ENSMUST00000174747]
[ENSMUST00000172580]
|
AlphaFold |
Q8C6P8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069250
AA Change: H190L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065811 Gene: ENSMUSG00000036036 AA Change: H190L
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 damaging
Transcript: ENSMUST00000089968
AA Change: H187L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000087414 Gene: ENSMUSG00000036036 AA Change: H187L
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 damaging
Transcript: ENSMUST00000174524
AA Change: H190L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134418 Gene: ENSMUSG00000036036 AA Change: H190L
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 damaging
Transcript: ENSMUST00000174672
AA Change: H190L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133821 Gene: ENSMUSG00000036036 AA Change: H190L
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: 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: 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 |
|
Meta Mutation Damage Score |
0.8873 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
98% (40/41) |
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 |
Abca17 |
T |
C |
17: 24,484,892 (GRCm39) |
D1540G |
probably benign |
Het |
Adamts7 |
A |
T |
9: 90,062,509 (GRCm39) |
|
probably null |
Het |
Apol10a |
C |
A |
15: 77,373,241 (GRCm39) |
F292L |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,290,719 (GRCm39) |
Y243* |
probably null |
Het |
Cc2d2a |
A |
G |
5: 43,861,416 (GRCm39) |
N660D |
possibly damaging |
Het |
Ccdc57 |
T |
C |
11: 120,785,538 (GRCm39) |
T466A |
probably benign |
Het |
Ccdc74a |
A |
T |
16: 17,467,889 (GRCm39) |
N249Y |
possibly damaging |
Het |
Cd3e |
T |
A |
9: 44,912,426 (GRCm39) |
E106V |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
C |
4: 128,415,743 (GRCm39) |
Y2691H |
possibly damaging |
Het |
Dmxl2 |
T |
C |
9: 54,282,820 (GRCm39) |
R2786G |
probably damaging |
Het |
Dpyd |
A |
G |
3: 119,059,606 (GRCm39) |
T768A |
probably benign |
Het |
Endou |
T |
A |
15: 97,610,012 (GRCm39) |
Q428L |
probably damaging |
Het |
Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
Fhip1b |
G |
A |
7: 105,034,198 (GRCm39) |
R478* |
probably null |
Het |
Frmd5 |
G |
A |
2: 121,379,699 (GRCm39) |
R70* |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gm4131 |
T |
A |
14: 62,718,598 (GRCm39) |
R3* |
probably null |
Het |
Habp4 |
A |
G |
13: 64,330,000 (GRCm39) |
T302A |
possibly damaging |
Het |
Ift81 |
A |
T |
5: 122,749,069 (GRCm39) |
D27E |
probably damaging |
Het |
Iqcf3 |
T |
C |
9: 106,430,083 (GRCm39) |
I107V |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,865,985 (GRCm39) |
I298T |
probably benign |
Het |
Lilrb4b |
A |
G |
10: 51,361,825 (GRCm39) |
D199G |
probably damaging |
Het |
Lsm8 |
C |
T |
6: 18,848,739 (GRCm39) |
S3F |
possibly damaging |
Het |
Meox1 |
T |
C |
11: 101,769,482 (GRCm39) |
E238G |
probably benign |
Het |
Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
Neb |
T |
C |
2: 52,097,737 (GRCm39) |
Y901C |
probably damaging |
Het |
Nfat5 |
A |
G |
8: 108,097,220 (GRCm39) |
M121V |
probably benign |
Het |
Notch2 |
G |
A |
3: 97,989,314 (GRCm39) |
G278D |
probably damaging |
Het |
Or4c121 |
T |
C |
2: 89,023,906 (GRCm39) |
I157M |
probably damaging |
Het |
Pbld2 |
T |
A |
10: 62,890,107 (GRCm39) |
S172T |
probably damaging |
Het |
Pla2g7 |
T |
A |
17: 43,905,688 (GRCm39) |
Y83N |
probably damaging |
Het |
Plxnb1 |
A |
T |
9: 108,945,705 (GRCm39) |
I2079F |
probably damaging |
Het |
Rara |
T |
C |
11: 98,851,839 (GRCm39) |
F17L |
probably benign |
Het |
Skint5 |
G |
A |
4: 113,799,806 (GRCm39) |
T121I |
probably damaging |
Het |
Slco6c1 |
T |
C |
1: 97,046,330 (GRCm39) |
Y251C |
probably damaging |
Het |
Slmap |
T |
A |
14: 26,143,566 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
T |
7: 33,853,985 (GRCm39) |
L319Q |
probably damaging |
Het |
Vmn2r96 |
A |
T |
17: 18,817,793 (GRCm39) |
I457F |
probably damaging |
Het |
Zfp738 |
A |
G |
13: 67,819,179 (GRCm39) |
S271P |
possibly damaging |
Het |
Zp2 |
A |
T |
7: 119,734,765 (GRCm39) |
H474Q |
possibly 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 |
|
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'- CTACAAGGCTCAGCATCGTG -3'
(R):5'- TTTCTCTTGAACGGACCACTG -3'
Sequencing Primer
(F):5'- CATCGTGGAGAGAGGCCTTTC -3'
(R):5'- CTCTTGAACGGACCACTGTAATAGAG -3'
|
Posted On |
2018-05-24 |