Incidental Mutation 'R3401:Zfp157'
ID |
259184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp157
|
Ensembl Gene |
ENSMUSG00000036898 |
Gene Name |
zinc finger protein 157 |
Synonyms |
2610020C11Rik, Roma, A630094N24Rik |
MMRRC Submission |
040620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R3401 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138439730-138458956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 138455273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 490
(N490K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085856]
[ENSMUST00000100524]
[ENSMUST00000110912]
|
AlphaFold |
Q6PCM4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085856
AA Change: N490K
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000083018 Gene: ENSMUSG00000036898 AA Change: N490K
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (30/30) |
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
Cul5 |
A |
T |
9: 53,532,512 (GRCm39) |
M747K |
probably benign |
Het |
Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
Eif1ad |
T |
C |
19: 5,418,276 (GRCm39) |
V20A |
probably benign |
Het |
Faim2 |
C |
T |
15: 99,418,229 (GRCm39) |
V119I |
probably damaging |
Het |
Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
Htr2a |
T |
C |
14: 74,882,499 (GRCm39) |
S162P |
probably damaging |
Het |
Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
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 |
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 |
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'- TGCAAGTCAACCCTTCGTG -3'
(R):5'- TAGCGTGTCTCACCTGAGTTC -3'
Sequencing Primer
(F):5'- GGCAAGGCTTTCTTCTACAAG -3'
(R):5'- TTCACATTGAATGAGGCATGAG -3'
|
Posted On |
2015-01-23 |