Incidental Mutation 'R4017:Rnf157'
| ID |
311999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf157
|
| Ensembl Gene |
ENSMUSG00000052949 |
| Gene Name |
ring finger protein 157 |
| Synonyms |
A130073L17Rik, 2610036E23Rik |
| MMRRC Submission |
041611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116227179-116303858 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 116250067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100202]
[ENSMUST00000106398]
[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 |
|
| 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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000148763
|
| 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 |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (36/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
G |
T |
19: 4,917,574 (GRCm39) |
T423N |
possibly damaging |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,896,915 (GRCm39) |
F121L |
probably benign |
Het |
| BC004004 |
T |
C |
17: 29,517,706 (GRCm39) |
S307P |
probably damaging |
Het |
| Cpeb4 |
A |
G |
11: 31,874,671 (GRCm39) |
D484G |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,405,900 (GRCm39) |
Y553C |
probably damaging |
Het |
| Dync1h1 |
G |
T |
12: 110,609,624 (GRCm39) |
R2802I |
probably damaging |
Het |
| Eif2a |
T |
A |
3: 58,452,776 (GRCm39) |
M209K |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,813 (GRCm39) |
K1071E |
probably benign |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Klhl10 |
G |
A |
11: 100,336,500 (GRCm39) |
M162I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,363,539 (GRCm39) |
E828G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,023,448 (GRCm39) |
F643S |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,948,333 (GRCm39) |
D182V |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,846 (GRCm39) |
S272G |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,948,791 (GRCm39) |
V69A |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,636,743 (GRCm39) |
C688F |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Saxo1 |
A |
T |
4: 86,476,233 (GRCm39) |
I7N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,329 (GRCm39) |
I214N |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Suz12 |
G |
T |
11: 79,904,292 (GRCm39) |
V211F |
probably damaging |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Zfp940 |
T |
C |
7: 29,545,359 (GRCm39) |
I183V |
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 |
|
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 |
|
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'- GCAGTGGCCAAAATACTCTGAAAG -3'
(R):5'- CTTCTGAGGGACTGATGAGC -3'
Sequencing Primer
(F):5'- GAGACAGCCTCAGTCCTCTC -3'
(R):5'- GGACTGATGAGCATGCACACAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation