Incidental Mutation 'R7942:Zfp57'
| ID |
649128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp57
|
| Ensembl Gene |
ENSMUSG00000036036 |
| Gene Name |
zinc finger protein 57 |
| Synonyms |
G19 |
| MMRRC Submission |
045988-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.419)
|
| Stock # |
R7942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37312055-37321527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37320566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 140
(F140S)
|
| 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 damaging
Transcript: ENSMUST00000069250
AA Change: F140S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: F140S
| 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: F137S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: F137S
| 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 damaging
Transcript: ENSMUST00000172540
AA Change: F137S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134024
Gene: ENSMUSG00000036036
AA Change: F137S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
12 |
72 |
9.05e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172580
AA Change: F137S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133894
Gene: ENSMUSG00000036036
AA Change: F137S
| 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: ENSMUST00000173588
AA Change: F97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135655
Gene: ENSMUSG00000036036
AA Change: F97S
| 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 damaging
Transcript: ENSMUST00000174524
AA Change: F140S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: F140S
| 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: F140S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: F140S
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,027 (GRCm39) |
I565T |
probably damaging |
Het |
| Adamts8 |
G |
A |
9: 30,864,778 (GRCm39) |
C423Y |
probably damaging |
Het |
| Adamts8 |
G |
A |
9: 30,870,209 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
C |
1: 179,613,660 (GRCm39) |
V490G |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,261,218 (GRCm39) |
T478A |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,683,989 (GRCm39) |
S559G |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,376,590 (GRCm39) |
T924A |
probably damaging |
Het |
| Atp13a1 |
A |
G |
8: 70,259,870 (GRCm39) |
E1126G |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,900,382 (GRCm39) |
V617A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cldnd1 |
A |
T |
16: 58,550,078 (GRCm39) |
N87I |
possibly damaging |
Het |
| Enpp2 |
A |
T |
15: 54,709,275 (GRCm39) |
V784E |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,507,575 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,741,595 (GRCm39) |
K212R |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,254,706 (GRCm39) |
C186G |
possibly damaging |
Het |
| Fsip1 |
G |
A |
2: 117,967,092 (GRCm39) |
T411I |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,836,785 (GRCm39) |
T460A |
probably benign |
Het |
| Gm19410 |
G |
A |
8: 36,238,940 (GRCm39) |
G70R |
probably damaging |
Het |
| Gna15 |
G |
A |
10: 81,359,745 (GRCm39) |
T15I |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,571,570 (GRCm39) |
C1198R |
probably damaging |
Het |
| Hoxd1 |
A |
G |
2: 74,594,504 (GRCm39) |
Y253C |
probably damaging |
Het |
| Il17re |
G |
T |
6: 113,443,111 (GRCm39) |
Q316H |
probably damaging |
Het |
| Jakmip1 |
C |
A |
5: 37,331,182 (GRCm39) |
P621T |
probably benign |
Het |
| Krt71 |
T |
C |
15: 101,643,894 (GRCm39) |
Y448C |
probably damaging |
Het |
| Lgals8 |
A |
G |
13: 12,468,137 (GRCm39) |
|
probably null |
Het |
| Marchf11 |
A |
G |
15: 26,409,505 (GRCm39) |
*401W |
probably null |
Het |
| Mctp1 |
A |
T |
13: 76,789,829 (GRCm39) |
|
probably null |
Het |
| Mms19 |
C |
A |
19: 41,944,400 (GRCm39) |
V310F |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,674 (GRCm39) |
F3296I |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,146,422 (GRCm39) |
I121N |
probably damaging |
Het |
| Nr0b2 |
T |
C |
4: 133,280,847 (GRCm39) |
S38P |
probably benign |
Het |
| Nudt16l1 |
T |
A |
16: 4,757,243 (GRCm39) |
M52K |
probably benign |
Het |
| Or3a4 |
A |
G |
11: 73,945,054 (GRCm39) |
I177T |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,566 (GRCm39) |
N229S |
probably benign |
Het |
| Polr3gl |
A |
T |
3: 96,489,552 (GRCm39) |
|
probably null |
Het |
| Ptch2 |
T |
A |
4: 116,963,198 (GRCm39) |
F228L |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,070,360 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
G |
A |
1: 131,768,635 (GRCm39) |
V198I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,709 (GRCm39) |
D527G |
possibly damaging |
Het |
| Spaca7b |
A |
G |
8: 11,705,615 (GRCm39) |
I164T |
unknown |
Het |
| Spag16 |
G |
T |
1: 69,866,247 (GRCm39) |
A29S |
probably benign |
Het |
| Speer4f2 |
T |
A |
5: 17,582,630 (GRCm39) |
D284E |
unknown |
Het |
| Sspo |
A |
G |
6: 48,465,434 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,517 (GRCm39) |
K89R |
possibly damaging |
Het |
| Tek |
C |
T |
4: 94,740,111 (GRCm39) |
|
probably null |
Het |
| Tet3 |
C |
T |
6: 83,353,956 (GRCm39) |
V902M |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,810,928 (GRCm39) |
V590M |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,499 (GRCm39) |
V357A |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,041,203 (GRCm39) |
V133A |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,613,322 (GRCm39) |
W305R |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,529 (GRCm39) |
L314I |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,061 (GRCm39) |
A178V |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,577,754 (GRCm39) |
S1120P |
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 |
|
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 |
|
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'- TGCACAGGGGTATTCAAAGGTG -3'
(R):5'- TGGAACCCTACTCTTCAGCC -3'
Sequencing Primer
(F):5'- GGTATTCAAAGGTGGACCATTC -3'
(R):5'- AGCCTCTGGTTGCTAGCCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation