Incidental Mutation 'R6200:Zfp57'
ID |
503160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp57
|
Ensembl Gene |
ENSMUSG00000036036 |
Gene Name |
zinc finger protein 57 |
Synonyms |
G19 |
MMRRC Submission |
044340-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.419)
|
Stock # |
R6200 (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 37321303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 386
(T386S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069250]
[ENSMUST00000089968]
[ENSMUST00000102665]
[ENSMUST00000167275]
[ENSMUST00000174524]
[ENSMUST00000174672]
[ENSMUST00000174747]
[ENSMUST00000172540]
[ENSMUST00000173921]
[ENSMUST00000172580]
[ENSMUST00000172527]
[ENSMUST00000173588]
|
AlphaFold |
Q8C6P8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069250
AA Change: T386S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000065811 Gene: ENSMUSG00000036036 AA Change: T386S
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: T383S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087414 Gene: ENSMUSG00000036036 AA Change: T383S
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: ENSMUST00000158194
|
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: ENSMUST00000174524
AA Change: T386S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134418 Gene: ENSMUSG00000036036 AA Change: T386S
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: T386S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133821 Gene: ENSMUSG00000036036 AA Change: T386S
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
|
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: ENSMUST00000173921
|
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: 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: 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
91% (32/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
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 |
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'- GATCACTTGTGCTGCCAAAG -3'
(R):5'- AAGACCTCAGTTTGACCTCCCC -3'
Sequencing Primer
(F):5'- TTGTGCTGCCAAAGACCAATCAG -3'
(R):5'- AAAATTGTATTTATTTTGTGGGGTGG -3'
|
Posted On |
2018-02-27 |