Incidental Mutation 'R5476:Zfp157'
| ID |
434077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp157
|
| Ensembl Gene |
ENSMUSG00000036898 |
| Gene Name |
zinc finger protein 157 |
| Synonyms |
2610020C11Rik, Roma, A630094N24Rik |
| MMRRC Submission |
043037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5476 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138439730-138458956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 138455443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 547
(V547G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085856]
[ENSMUST00000100524]
[ENSMUST00000110912]
|
| AlphaFold |
Q6PCM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085856
AA Change: V547G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083018
Gene: ENSMUSG00000036898
AA Change: V547G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
3.64e-35 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.01e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100524
|
| SMART Domains |
Protein: ENSMUSP00000098093
Gene: ENSMUSG00000036898
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
3.64e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110912
|
| SMART Domains |
Protein: ENSMUSP00000106537
Gene: ENSMUSG00000036898
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
3.64e-35 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display accelerated ductal elongation during puberty and accelerated alveologenesis during pregnancy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
| Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
| Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
| Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
| Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
| Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
| Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
| Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
| Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
| Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably damaging |
Het |
|
| Other mutations in Zfp157 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Zfp157
|
APN |
5 |
138,445,840 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02377:Zfp157
|
APN |
5 |
138,445,859 (GRCm39) |
nonsense |
probably null |
|
|
R1476:Zfp157
|
UTSW |
5 |
138,453,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1883:Zfp157
|
UTSW |
5 |
138,443,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Zfp157
|
UTSW |
5 |
138,443,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3401:Zfp157
|
UTSW |
5 |
138,455,273 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4237:Zfp157
|
UTSW |
5 |
138,445,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Zfp157
|
UTSW |
5 |
138,445,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Zfp157
|
UTSW |
5 |
138,455,191 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4785:Zfp157
|
UTSW |
5 |
138,443,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Zfp157
|
UTSW |
5 |
138,454,557 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6128:Zfp157
|
UTSW |
5 |
138,453,281 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6473:Zfp157
|
UTSW |
5 |
138,454,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6572:Zfp157
|
UTSW |
5 |
138,455,313 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6990:Zfp157
|
UTSW |
5 |
138,454,772 (GRCm39) |
nonsense |
probably null |
|
|
R7638:Zfp157
|
UTSW |
5 |
138,454,172 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7966:Zfp157
|
UTSW |
5 |
138,445,833 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7994:Zfp157
|
UTSW |
5 |
138,453,450 (GRCm39) |
splice site |
probably null |
|
|
R8057:Zfp157
|
UTSW |
5 |
138,454,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Zfp157
|
UTSW |
5 |
138,454,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Zfp157
|
UTSW |
5 |
138,455,461 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGAACTCATACACATGG -3'
(R):5'- TTTCCAGACAAAACGGTCTTCTG -3'
Sequencing Primer
(F):5'- GGAACTCATACACATGGTACTAATAC -3'
(R):5'- AAACGGTCTTCTGATACTGAGAGGTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation