Incidental Mutation 'IGL01628:Rmdn2'
ID |
92828 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rmdn2
|
Ensembl Gene |
ENSMUSG00000036368 |
Gene Name |
regulator of microtubule dynamics 2 |
Synonyms |
Fam82a1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
IGL01628
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
79919292-80000621 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 79979817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 361
(Y361*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040368]
[ENSMUST00000225357]
|
AlphaFold |
Q8BSE0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040368
AA Change: Y361*
|
SMART Domains |
Protein: ENSMUSP00000044543 Gene: ENSMUSG00000036368 AA Change: Y361*
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 null
Transcript: ENSMUST00000225357
AA Change: Y361*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226004
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430005L14Rik |
T |
C |
4: 154,045,436 (GRCm39) |
V155A |
probably damaging |
Het |
Agtpbp1 |
T |
A |
13: 59,655,877 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
T |
G |
3: 37,062,634 (GRCm39) |
V3382G |
probably damaging |
Het |
Cd300ld |
A |
G |
11: 114,876,999 (GRCm39) |
I144T |
probably benign |
Het |
Cmc1 |
A |
T |
9: 117,944,452 (GRCm39) |
I22K |
probably benign |
Het |
Cyp3a59 |
A |
G |
5: 146,036,629 (GRCm39) |
N277S |
possibly damaging |
Het |
Edil3 |
G |
T |
13: 89,467,945 (GRCm39) |
|
probably benign |
Het |
Glipr2 |
C |
A |
4: 43,977,565 (GRCm39) |
A136E |
probably damaging |
Het |
Gm8297 |
G |
A |
14: 16,164,995 (GRCm39) |
M1I |
probably null |
Het |
Insrr |
C |
A |
3: 87,708,099 (GRCm39) |
C180* |
probably null |
Het |
Kat2b |
A |
G |
17: 53,917,925 (GRCm39) |
N95D |
possibly damaging |
Het |
Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
Or2h2 |
A |
T |
17: 37,396,192 (GRCm39) |
Y288* |
probably null |
Het |
Parp9 |
A |
G |
16: 35,777,285 (GRCm39) |
T177A |
possibly damaging |
Het |
Rusc2 |
A |
C |
4: 43,425,729 (GRCm39) |
Q1278P |
probably damaging |
Het |
Setbp1 |
A |
T |
18: 78,899,992 (GRCm39) |
L1225Q |
probably damaging |
Het |
Slc39a10 |
A |
T |
1: 46,874,683 (GRCm39) |
H206Q |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,099,010 (GRCm39) |
Y586C |
probably damaging |
Het |
Sos1 |
C |
T |
17: 80,730,106 (GRCm39) |
|
probably benign |
Het |
Tnn |
A |
G |
1: 159,975,172 (GRCm39) |
I85T |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,769,036 (GRCm39) |
|
probably null |
Het |
Wdr33 |
G |
T |
18: 32,021,363 (GRCm39) |
G638C |
unknown |
Het |
Zfp976 |
T |
C |
7: 42,261,935 (GRCm39) |
Y634C |
unknown |
Het |
|
Other mutations in Rmdn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0052:Rmdn2
|
UTSW |
17 |
79,957,760 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2013-12-09 |