Incidental Mutation 'R0052:Rmdn2'
| ID |
15251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rmdn2
|
| Ensembl Gene |
ENSMUSG00000036368 |
| Gene Name |
regulator of microtubule dynamics 2 |
| Synonyms |
Fam82a1 |
| MMRRC Submission |
038346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R0052 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79919292-80000621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79957760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 16
(E16G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040368]
[ENSMUST00000224618]
[ENSMUST00000225357]
|
| AlphaFold |
Q8BSE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040368
AA Change: E161G
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368
AA Change: E161G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
Blast:PAS
|
70 |
133 |
4e-16 |
BLAST |
|
low complexity region
|
137 |
149 |
N/A |
INTRINSIC |
|
SCOP:d1hxia_
|
290 |
386 |
4e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086570
|
| SMART Domains |
Protein: ENSMUSP00000083761
Gene: ENSMUSG00000036368
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224618
AA Change: E16G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225357
AA Change: E161G
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0848 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
| Validation Efficiency |
90% (62/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
| Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
| Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
| Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
| St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
| Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
| Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
| Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
| Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
| Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
| Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
probably damaging |
Het |
|
| Other mutations in Rmdn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01628:Rmdn2
|
APN |
17 |
79,979,817 (GRCm39) |
nonsense |
probably null |
|
|
R0052:Rmdn2
|
UTSW |
17 |
79,957,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0127:Rmdn2
|
UTSW |
17 |
79,977,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Rmdn2
|
UTSW |
17 |
79,957,716 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Rmdn2
|
UTSW |
17 |
79,975,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0720:Rmdn2
|
UTSW |
17 |
79,975,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1163:Rmdn2
|
UTSW |
17 |
79,966,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3746:Rmdn2
|
UTSW |
17 |
79,977,981 (GRCm39) |
splice site |
probably null |
|
|
R4966:Rmdn2
|
UTSW |
17 |
79,974,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Rmdn2
|
UTSW |
17 |
79,975,418 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5259:Rmdn2
|
UTSW |
17 |
79,975,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6439:Rmdn2
|
UTSW |
17 |
79,934,971 (GRCm39) |
intron |
probably benign |
|
|
R6991:Rmdn2
|
UTSW |
17 |
79,928,739 (GRCm39) |
start gained |
probably benign |
|
|
R7046:Rmdn2
|
UTSW |
17 |
79,928,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Rmdn2
|
UTSW |
17 |
79,929,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7541:Rmdn2
|
UTSW |
17 |
79,935,297 (GRCm39) |
missense |
|
|
|
R8246:Rmdn2
|
UTSW |
17 |
79,979,966 (GRCm39) |
nonsense |
probably null |
|
|
R8359:Rmdn2
|
UTSW |
17 |
79,935,580 (GRCm39) |
missense |
|
|
|
R8393:Rmdn2
|
UTSW |
17 |
79,975,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8462:Rmdn2
|
UTSW |
17 |
79,978,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Rmdn2
|
UTSW |
17 |
79,989,096 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9496:Rmdn2
|
UTSW |
17 |
79,975,425 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9549:Rmdn2
|
UTSW |
17 |
79,935,339 (GRCm39) |
missense |
|
|
|
R9602:Rmdn2
|
UTSW |
17 |
79,975,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Rmdn2
|
UTSW |
17 |
79,928,790 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9698:Rmdn2
|
UTSW |
17 |
79,957,729 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2012-12-17 |
Incidental Mutation