Incidental Mutation 'R6473:Zfp157'
| ID |
520334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp157
|
| Ensembl Gene |
ENSMUSG00000036898 |
| Gene Name |
zinc finger protein 157 |
| Synonyms |
2610020C11Rik, Roma, A630094N24Rik |
| MMRRC Submission |
044606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138439730-138458956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138454188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 129
(C129R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085856]
[ENSMUST00000100524]
[ENSMUST00000110912]
|
| AlphaFold |
Q6PCM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085856
AA Change: C129R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083018
Gene: ENSMUSG00000036898
AA Change: C129R
| 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: 99.9%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| Validation Efficiency |
95% (36/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,596,531 (GRCm39) |
D106G |
probably damaging |
Het |
| Adat3 |
A |
G |
10: 80,442,801 (GRCm39) |
D213G |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,628,694 (GRCm39) |
D32G |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,002,962 (GRCm39) |
R61* |
probably null |
Het |
| Ash2l |
T |
A |
8: 26,325,008 (GRCm39) |
T184S |
probably damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Chmp2b |
C |
T |
16: 65,343,758 (GRCm39) |
G96S |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,968 (GRCm39) |
N248S |
probably benign |
Het |
| Cyp46a1 |
G |
T |
12: 108,321,734 (GRCm39) |
R320L |
possibly damaging |
Het |
| Dact1 |
A |
G |
12: 71,364,472 (GRCm39) |
T418A |
probably benign |
Het |
| Ddx3y |
T |
C |
Y: 1,265,971 (GRCm39) |
Y342C |
possibly damaging |
Homo |
| Dnm3 |
T |
A |
1: 162,305,274 (GRCm39) |
Q40L |
probably damaging |
Het |
| Eif2s1 |
T |
C |
12: 78,927,999 (GRCm39) |
I225T |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,456,096 (GRCm39) |
I795N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,687 (GRCm39) |
|
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,025,672 (GRCm39) |
I551T |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,997,404 (GRCm39) |
T755A |
probably benign |
Het |
| Mrps31 |
A |
G |
8: 22,904,881 (GRCm39) |
D90G |
probably benign |
Het |
| Or14j4 |
T |
A |
17: 37,920,887 (GRCm39) |
T252S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,406 (GRCm39) |
L147M |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,124,932 (GRCm39) |
I248F |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,952,955 (GRCm39) |
R760G |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slpi |
T |
C |
2: 164,196,846 (GRCm39) |
Y116C |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,669 (GRCm39) |
E425V |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,906,058 (GRCm39) |
S281P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,317,792 (GRCm39) |
M1V |
probably null |
Het |
| Usp16 |
G |
A |
16: 87,280,023 (GRCm39) |
S741N |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,336,419 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,583 (GRCm39) |
I287K |
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 |
|
R5476:Zfp157
|
UTSW |
5 |
138,455,443 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6128:Zfp157
|
UTSW |
5 |
138,453,281 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- TTTAAGTAACAAGATGCACAGCAGG -3'
(R):5'- TCTGATTTGGAGGAGAAAGCTTTC -3'
Sequencing Primer
(F):5'- CAGGGAAAATTGTGAGTGTACTTCC -3'
(R):5'- GGAGAAAGCTTTCTTGCATTCTGTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation