Incidental Mutation 'IGL02194:Rnf157'
| ID |
284013 |
| 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 # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116227179-116303858 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 116237858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100202]
[ENSMUST00000106398]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100202
|
| SMART Domains |
Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949
| 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: ENSMUST00000137264
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150775
|
| SMART Domains |
Protein: ENSMUSP00000123289
Gene: ENSMUSG00000052949
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
75 |
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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
| Other mutations in Rnf157 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Rnf157
|
APN |
11 |
116,253,181 (GRCm39) |
missense |
probably benign |
0.20 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation