Incidental Mutation 'R1297:Rnf215'
| ID |
158183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf215
|
| Ensembl Gene |
ENSMUSG00000003581 |
| Gene Name |
ring finger protein 215 |
| Synonyms |
0610009J22Rik |
| MMRRC Submission |
039363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1297 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
4085202-4091172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4089806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 273
(V273A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003677]
[ENSMUST00000093381]
[ENSMUST00000101626]
[ENSMUST00000124670]
[ENSMUST00000145705]
|
| AlphaFold |
Q5SPX3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003677
AA Change: V273A
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581
AA Change: V273A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
285 |
N/A |
INTRINSIC |
|
RING
|
327 |
367 |
6.89e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093381
|
| SMART Domains |
Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
414 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
452 |
595 |
4e-5 |
SMART |
|
low complexity region
|
639 |
659 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101626
|
| SMART Domains |
Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
219 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
312 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
350 |
493 |
3e-4 |
SMART |
|
low complexity region
|
537 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124670
|
| SMART Domains |
Protein: ENSMUSP00000114532
Gene: ENSMUSG00000003581
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137060
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145705
|
| SMART Domains |
Protein: ENSMUSP00000117540
Gene: ENSMUSG00000003581
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175339
|
| Meta Mutation Damage Score |
0.2689 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,223,935 (GRCm39) |
W217R |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,887 (GRCm39) |
H109L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
| Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
| Hdac2 |
G |
A |
10: 36,862,370 (GRCm39) |
R78Q |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
| Klrg1 |
T |
A |
6: 122,250,538 (GRCm39) |
I138F |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
| Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
| Pgk2 |
C |
A |
17: 40,519,255 (GRCm39) |
V58L |
probably benign |
Het |
| Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
| Pou6f1 |
T |
A |
15: 100,476,186 (GRCm39) |
T292S |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
| Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,257,187 (GRCm39) |
|
probably benign |
Het |
| Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
| Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
| Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
| Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
probably benign |
Het |
|
| Other mutations in Rnf215 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01958:Rnf215
|
APN |
11 |
4,090,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Rnf215
|
APN |
11 |
4,086,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Rnf215
|
APN |
11 |
4,090,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02724:Rnf215
|
APN |
11 |
4,090,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Rnf215
|
APN |
11 |
4,089,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02988:Rnf215
|
UTSW |
11 |
4,086,785 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0316:Rnf215
|
UTSW |
11 |
4,089,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0693:Rnf215
|
UTSW |
11 |
4,090,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1519:Rnf215
|
UTSW |
11 |
4,085,451 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1584:Rnf215
|
UTSW |
11 |
4,086,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1778:Rnf215
|
UTSW |
11 |
4,085,873 (GRCm39) |
nonsense |
probably null |
|
|
R5444:Rnf215
|
UTSW |
11 |
4,085,843 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5623:Rnf215
|
UTSW |
11 |
4,085,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5964:Rnf215
|
UTSW |
11 |
4,085,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6823:Rnf215
|
UTSW |
11 |
4,086,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Rnf215
|
UTSW |
11 |
4,089,792 (GRCm39) |
nonsense |
probably null |
|
|
R7635:Rnf215
|
UTSW |
11 |
4,089,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Rnf215
|
UTSW |
11 |
4,085,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8739:Rnf215
|
UTSW |
11 |
4,085,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTTAGATGACGGTGAGTGGAG -3'
(R):5'- ACTGGAAGACAGTCCTGGTTGGAG -3'
Sequencing Primer
(F):5'- CCAGTGGCATGGAGACTTCAG -3'
(R):5'- AGGCCAGCTTGTAGCTGAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation