Incidental Mutation 'R5608:Rnf157'
ID |
439400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf157
|
Ensembl Gene |
ENSMUSG00000052949 |
Gene Name |
ring finger protein 157 |
Synonyms |
A130073L17Rik, 2610036E23Rik |
MMRRC Submission |
043272-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5608 (G1)
|
Quality Score |
216 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
116227179-116303858 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 116287146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102006
(fasta)
|
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 null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
95% (54/57) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
T |
C |
10: 80,178,781 (GRCm39) |
D199G |
probably benign |
Het |
Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,303,395 (GRCm39) |
E117G |
probably damaging |
Het |
Alkbh7 |
A |
T |
17: 57,305,446 (GRCm39) |
I88F |
probably damaging |
Het |
Ankrd26 |
C |
A |
6: 118,488,583 (GRCm39) |
D1359Y |
probably damaging |
Het |
Apoo-ps |
T |
C |
13: 107,550,709 (GRCm39) |
|
noncoding transcript |
Het |
Arfgap2 |
G |
A |
2: 91,100,547 (GRCm39) |
R298H |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,920,539 (GRCm39) |
V2109I |
probably damaging |
Het |
Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
Bpifa1 |
T |
C |
2: 153,989,495 (GRCm39) |
|
probably benign |
Het |
Capn7 |
A |
G |
14: 31,092,664 (GRCm39) |
Y737C |
probably damaging |
Het |
Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
Colec12 |
T |
A |
18: 9,848,267 (GRCm39) |
D148E |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
Dpysl4 |
T |
C |
7: 138,678,459 (GRCm39) |
V473A |
probably damaging |
Het |
Dyrk3 |
T |
C |
1: 131,056,452 (GRCm39) |
S574G |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
Helq |
C |
T |
5: 100,938,085 (GRCm39) |
G454S |
probably damaging |
Het |
Incenp |
CGCTGCTGCTGC |
CGCTGCTGCTGCTGC |
19: 9,871,232 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
A |
C |
12: 84,834,238 (GRCm39) |
|
probably null |
Het |
Marcks |
A |
T |
10: 37,012,912 (GRCm39) |
V41E |
probably damaging |
Het |
Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
Nhlrc3 |
C |
T |
3: 53,369,732 (GRCm39) |
|
probably null |
Het |
Or1n1b |
A |
G |
2: 36,780,527 (GRCm39) |
F111S |
probably damaging |
Het |
Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
Or8b8 |
G |
A |
9: 37,809,078 (GRCm39) |
C126Y |
probably damaging |
Het |
Pcdhga6 |
A |
G |
18: 37,840,514 (GRCm39) |
N78S |
possibly damaging |
Het |
Plag1 |
T |
A |
4: 3,905,463 (GRCm39) |
K76* |
probably null |
Het |
Ptpn21 |
T |
A |
12: 98,655,036 (GRCm39) |
T644S |
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
Serpina5 |
A |
C |
12: 104,070,003 (GRCm39) |
Y300S |
probably damaging |
Het |
Slc41a3 |
A |
G |
6: 90,617,889 (GRCm39) |
K279R |
probably benign |
Het |
Smndc1 |
A |
G |
19: 53,372,084 (GRCm39) |
V110A |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,722,129 (GRCm39) |
Q1017R |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,547,581 (GRCm39) |
S1620T |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,741,603 (GRCm39) |
|
probably benign |
Het |
Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
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 |
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 |
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'- CTGCCACATCAGCAAACTTG -3'
(R):5'- GAACAGAAATGGCCTCTTTGTTTG -3'
Sequencing Primer
(F):5'- CAAACTTGATTTTAACAGGGCTGGG -3'
(R):5'- AAATGGCCTCTTTGTTTGTCGTTTC -3'
|
Posted On |
2016-10-26 |