Incidental Mutation 'R1820:Rnf157'
ID |
204800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf157
|
Ensembl Gene |
ENSMUSG00000052949 |
Gene Name |
ring finger protein 157 |
Synonyms |
A130073L17Rik, 2610036E23Rik |
MMRRC Submission |
039848-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1820 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116227179-116303858 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 116245477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 313
(P313T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102006
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100202]
[ENSMUST00000106398]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100202
AA Change: P313T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097776 Gene: ENSMUSG00000052949 AA Change: P313T
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 damaging
Transcript: ENSMUST00000106398
AA Change: P313T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102006 Gene: ENSMUSG00000052949 AA Change: P313T
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: ENSMUST00000148763
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149147
AA Change: P137T
|
SMART Domains |
Protein: ENSMUSP00000122483 Gene: ENSMUSG00000052949 AA Change: P137T
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 |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
Chtf18 |
C |
A |
17: 25,944,913 (GRCm39) |
G211C |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
Dcun1d1 |
A |
T |
3: 35,973,153 (GRCm39) |
L114* |
probably null |
Het |
Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
Prag1 |
A |
G |
8: 36,570,958 (GRCm39) |
T514A |
probably benign |
Het |
Psmd5 |
T |
C |
2: 34,760,758 (GRCm39) |
|
probably null |
Het |
Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
Scai |
A |
T |
2: 38,996,990 (GRCm39) |
M268K |
possibly damaging |
Het |
Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
Sp1 |
T |
A |
15: 102,317,511 (GRCm39) |
S343R |
possibly damaging |
Het |
Spata31d1a |
A |
T |
13: 59,849,069 (GRCm39) |
C1020S |
possibly damaging |
Het |
Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAAGCTGCTTGGGGACAGAG -3'
(R):5'- TGATGAGCTGTGTCTCCTCC -3'
Sequencing Primer
(F):5'- TCCTCATGGCTCGGATCTGAAG -3'
(R):5'- GTGTCTCCTCCTGGCCAG -3'
|
Posted On |
2014-06-23 |