Incidental Mutation 'IGL01146:Rnf157'
| ID |
52393 |
| 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 # |
IGL01146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116227179-116303858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116240912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 393
(H393R)
|
| 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: H393R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949
AA Change: H393R
| 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: H393R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949
AA Change: H393R
| 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 |
noncoding transcript
Transcript: ENSMUST00000141229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148763
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149147
AA Change: H217R
|
| SMART Domains |
Protein: ENSMUSP00000122483
Gene: ENSMUSG00000052949
AA Change: H217R
| 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 benign
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
C |
6: 40,943,217 (GRCm39) |
I54T |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,403,957 (GRCm39) |
V701A |
possibly damaging |
Het |
| Adam6a |
A |
T |
12: 113,507,840 (GRCm39) |
Y71F |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,651,081 (GRCm39) |
I148N |
possibly damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,901 (GRCm39) |
S282P |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,403,220 (GRCm39) |
Q257L |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,770 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,700,144 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,797,749 (GRCm39) |
E274G |
probably damaging |
Het |
| Cdc34b |
G |
T |
11: 94,633,420 (GRCm39) |
D207Y |
probably benign |
Het |
| Chst5 |
C |
T |
8: 112,617,314 (GRCm39) |
C102Y |
probably damaging |
Het |
| Cnbd2 |
T |
A |
2: 156,154,534 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,612,591 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
C |
16: 16,132,189 (GRCm39) |
D549G |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,462,521 (GRCm39) |
D323V |
probably damaging |
Het |
| Gm9843 |
G |
A |
16: 76,200,255 (GRCm39) |
|
noncoding transcript |
Het |
| Gopc |
A |
G |
10: 52,234,963 (GRCm39) |
V120A |
probably benign |
Het |
| Kmt2c |
T |
G |
5: 25,513,510 (GRCm39) |
M3095L |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,783,615 (GRCm39) |
E629G |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,112,460 (GRCm39) |
S12T |
possibly damaging |
Het |
| Phf2 |
A |
T |
13: 48,973,083 (GRCm39) |
L391Q |
unknown |
Het |
| Phf8-ps |
A |
G |
17: 33,284,357 (GRCm39) |
L815S |
possibly damaging |
Het |
| Plekha7 |
G |
A |
7: 115,756,708 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
A |
5: 21,945,476 (GRCm39) |
|
probably benign |
Het |
| Poc1a |
T |
C |
9: 106,182,503 (GRCm39) |
Y285H |
probably benign |
Het |
| Polr1e |
T |
C |
4: 45,031,369 (GRCm39) |
L387S |
probably damaging |
Het |
| Prr9 |
A |
T |
3: 92,030,504 (GRCm39) |
C45* |
probably null |
Het |
| Rps6ka4 |
A |
G |
19: 6,808,496 (GRCm39) |
F554L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,576,275 (GRCm39) |
S861P |
probably damaging |
Het |
| Sh3tc2 |
G |
T |
18: 62,122,582 (GRCm39) |
D448Y |
probably damaging |
Het |
| Smg6 |
T |
G |
11: 74,821,254 (GRCm39) |
Y508* |
probably null |
Het |
| Sult6b2 |
C |
T |
6: 142,750,034 (GRCm39) |
G28D |
probably benign |
Het |
| Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
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 |
|
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 |
2013-06-21 |
Incidental Mutation