Incidental Mutation 'IGL00755:Rmdn1'
ID |
12615 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rmdn1
|
Ensembl Gene |
ENSMUSG00000028229 |
Gene Name |
regulator of microtubule dynamics 1 |
Synonyms |
5033415E11Rik, Fam82b, 6430576D04Rik, 2410005O16Rik, 5730501K14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
IGL00755
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
19575162-19606932 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19580401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 42
(N42K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029888]
[ENSMUST00000108253]
|
AlphaFold |
Q9DCV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029888
AA Change: N42K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000029888 Gene: ENSMUSG00000028229 AA Change: N42K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
SCOP:d1a17__
|
140 |
281 |
2e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108253
AA Change: N42K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000103888 Gene: ENSMUSG00000028229 AA Change: N42K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,492,102 (GRCm39) |
Y4381C |
possibly damaging |
Het |
Card6 |
G |
A |
15: 5,128,423 (GRCm39) |
T991I |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,295,616 (GRCm39) |
N684S |
possibly damaging |
Het |
Cep290 |
A |
G |
10: 100,366,966 (GRCm39) |
T1106A |
probably damaging |
Het |
Cplx4 |
T |
A |
18: 66,090,166 (GRCm39) |
|
probably benign |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,189,417 (GRCm39) |
|
probably null |
Het |
Dock8 |
A |
G |
19: 25,028,873 (GRCm39) |
K26E |
probably benign |
Het |
Fancl |
G |
A |
11: 26,420,916 (GRCm39) |
V349I |
probably benign |
Het |
Gsg1l |
A |
G |
7: 125,522,598 (GRCm39) |
F210S |
possibly damaging |
Het |
Mboat2 |
T |
A |
12: 25,007,645 (GRCm39) |
V419E |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,432,057 (GRCm39) |
V2327A |
possibly damaging |
Het |
Ndnf |
C |
T |
6: 65,680,242 (GRCm39) |
P174S |
probably damaging |
Het |
Nlrp9b |
A |
T |
7: 19,757,447 (GRCm39) |
D228V |
probably damaging |
Het |
Prps2 |
A |
T |
X: 166,157,138 (GRCm39) |
I56N |
possibly damaging |
Het |
Reln |
A |
G |
5: 22,265,378 (GRCm39) |
V438A |
probably damaging |
Het |
Sass6 |
G |
A |
3: 116,411,977 (GRCm39) |
E312K |
probably damaging |
Het |
Scrn1 |
T |
A |
6: 54,497,694 (GRCm39) |
D299V |
possibly damaging |
Het |
Slk |
T |
A |
19: 47,597,449 (GRCm39) |
C86S |
probably damaging |
Het |
Veph1 |
C |
T |
3: 66,162,431 (GRCm39) |
E76K |
probably damaging |
Het |
Zfp282 |
C |
T |
6: 47,857,324 (GRCm39) |
P186S |
probably damaging |
Het |
|
Other mutations in Rmdn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00702:Rmdn1
|
APN |
4 |
19,605,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00816:Rmdn1
|
APN |
4 |
19,595,119 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02547:Rmdn1
|
APN |
4 |
19,605,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5027:Rmdn1
|
UTSW |
4 |
19,588,533 (GRCm39) |
nonsense |
probably null |
|
R7341:Rmdn1
|
UTSW |
4 |
19,586,837 (GRCm39) |
nonsense |
probably null |
|
R8231:Rmdn1
|
UTSW |
4 |
19,586,853 (GRCm39) |
missense |
probably benign |
0.00 |
R8311:Rmdn1
|
UTSW |
4 |
19,575,329 (GRCm39) |
critical splice donor site |
probably null |
|
R9225:Rmdn1
|
UTSW |
4 |
19,601,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R9592:Rmdn1
|
UTSW |
4 |
19,599,660 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Posted On |
2012-12-06 |