Incidental Mutation 'IGL00487:Rnf157'
| ID |
13838 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf157
|
| Ensembl Gene |
ENSMUSG00000052949 |
| Gene Name |
ring finger protein 157 |
| Synonyms |
A130073L17Rik, 2610036E23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116227179-116303858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116253181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 76
(P76S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100202]
[ENSMUST00000106398]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100202
AA Change: P76S
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949
AA Change: P76S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
277 |
315 |
5.64e-4 |
SMART |
|
low complexity region
|
345 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
562 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106398
AA Change: P76S
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949
AA Change: P76S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
277 |
315 |
5.64e-4 |
SMART |
|
low complexity region
|
345 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
574 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149147
|
| SMART Domains |
Protein: ENSMUSP00000122483
Gene: ENSMUSG00000052949
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
102 |
140 |
5.64e-4 |
SMART |
|
low complexity region
|
170 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
387 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: The gene supports neuronal survival and dendrite growth and maintenance and knockdown with siRNA induces apoptosis in neuronal tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,200,276 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
G |
5: 123,412,240 (GRCm39) |
I84S |
probably damaging |
Het |
| Dusp23 |
T |
C |
1: 172,459,199 (GRCm39) |
|
probably benign |
Het |
| Invs |
C |
T |
4: 48,407,689 (GRCm39) |
Q555* |
probably null |
Het |
| Mak16 |
T |
C |
8: 31,656,778 (GRCm39) |
N9D |
probably benign |
Het |
| Mrps7 |
T |
C |
11: 115,495,684 (GRCm39) |
I74T |
possibly damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,149,410 (GRCm39) |
V339G |
possibly damaging |
Het |
| Nucb1 |
A |
G |
7: 45,151,075 (GRCm39) |
L102P |
probably damaging |
Het |
| Pdp2 |
T |
C |
8: 105,320,829 (GRCm39) |
M226T |
probably benign |
Het |
| Pik3r2 |
T |
C |
8: 71,223,073 (GRCm39) |
D449G |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,021,120 (GRCm39) |
Q267K |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,781,818 (GRCm39) |
E349G |
probably damaging |
Het |
| Snx14 |
G |
T |
9: 88,284,243 (GRCm39) |
S475Y |
probably damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,651,948 (GRCm39) |
H37L |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,921,002 (GRCm39) |
H1371L |
probably benign |
Het |
|
| Other mutations in Rnf157 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Rnf157
|
APN |
11 |
116,240,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01955:Rnf157
|
APN |
11 |
116,250,722 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02010:Rnf157
|
APN |
11 |
116,287,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:Rnf157
|
APN |
11 |
116,237,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03092:Rnf157
|
APN |
11 |
116,238,795 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4362001:Rnf157
|
UTSW |
11 |
116,251,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Rnf157
|
UTSW |
11 |
116,240,276 (GRCm39) |
unclassified |
probably benign |
|
|
R0022:Rnf157
|
UTSW |
11 |
116,240,276 (GRCm39) |
unclassified |
probably benign |
|
|
R0036:Rnf157
|
UTSW |
11 |
116,287,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Rnf157
|
UTSW |
11 |
116,245,636 (GRCm39) |
splice site |
probably benign |
|
|
R1476:Rnf157
|
UTSW |
11 |
116,245,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Rnf157
|
UTSW |
11 |
116,237,921 (GRCm39) |
missense |
probably benign |
|
|
R1544:Rnf157
|
UTSW |
11 |
116,245,188 (GRCm39) |
splice site |
probably null |
|
|
R1654:Rnf157
|
UTSW |
11 |
116,249,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Rnf157
|
UTSW |
11 |
116,245,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Rnf157
|
UTSW |
11 |
116,249,520 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4017:Rnf157
|
UTSW |
11 |
116,250,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4590:Rnf157
|
UTSW |
11 |
116,250,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Rnf157
|
UTSW |
11 |
116,246,298 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4891:Rnf157
|
UTSW |
11 |
116,249,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Rnf157
|
UTSW |
11 |
116,287,146 (GRCm39) |
splice site |
probably null |
|
|
R5870:Rnf157
|
UTSW |
11 |
116,237,900 (GRCm39) |
missense |
probably benign |
|
|
R7171:Rnf157
|
UTSW |
11 |
116,253,199 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7376:Rnf157
|
UTSW |
11 |
116,251,192 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8178:Rnf157
|
UTSW |
11 |
116,238,307 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8356:Rnf157
|
UTSW |
11 |
116,240,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8456:Rnf157
|
UTSW |
11 |
116,240,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8714:Rnf157
|
UTSW |
11 |
116,237,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9312:Rnf157
|
UTSW |
11 |
116,240,158 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9313:Rnf157
|
UTSW |
11 |
116,250,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9579:Rnf157
|
UTSW |
11 |
116,240,822 (GRCm39) |
missense |
probably benign |
|
|
R9641:Rnf157
|
UTSW |
11 |
116,303,576 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0020:Rnf157
|
UTSW |
11 |
116,251,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation