Incidental Mutation 'R8462:Rmdn2'
| ID |
656627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rmdn2
|
| Ensembl Gene |
ENSMUSG00000036368 |
| Gene Name |
regulator of microtubule dynamics 2 |
| Synonyms |
Fam82a1 |
| MMRRC Submission |
067906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R8462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79919292-80000621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79978053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 338
(T338M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040368]
[ENSMUST00000225357]
|
| AlphaFold |
Q8BSE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040368
AA Change: T338M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368
AA Change: T338M
| 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 damaging
Transcript: ENSMUST00000225357
AA Change: T338M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226004
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,930,074 (GRCm39) |
V103A |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,104,499 (GRCm39) |
N729S |
probably benign |
Het |
| Ap2a2 |
T |
A |
7: 141,210,394 (GRCm39) |
N883K |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,749,579 (GRCm39) |
I464T |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,777,504 (GRCm39) |
H184Q |
probably damaging |
Het |
| Bmp5 |
A |
G |
9: 75,746,874 (GRCm39) |
D244G |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,320,167 (GRCm39) |
E882* |
probably null |
Het |
| Cfap58 |
T |
A |
19: 47,972,089 (GRCm39) |
V673E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,706,130 (GRCm39) |
N1155S |
probably benign |
Het |
| Colgalt2 |
C |
A |
1: 152,378,823 (GRCm39) |
H416Q |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,561,404 (GRCm39) |
L230F |
probably benign |
Het |
| Dixdc1 |
G |
T |
9: 50,622,079 (GRCm39) |
S84* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,875,603 (GRCm39) |
D475G |
probably damaging |
Het |
| Egr2 |
T |
A |
10: 67,374,173 (GRCm39) |
N54K |
probably null |
Het |
| Grm3 |
T |
C |
5: 9,562,365 (GRCm39) |
D495G |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,266,797 (GRCm39) |
T1629I |
probably benign |
Het |
| Klf2 |
A |
T |
8: 73,073,373 (GRCm39) |
N59I |
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,377,284 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,680 (GRCm39) |
V838A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,620,069 (GRCm39) |
S786P |
probably damaging |
Het |
| Matk |
C |
G |
10: 81,097,859 (GRCm39) |
R315G |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,290,666 (GRCm39) |
V249A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,090,654 (GRCm39) |
R273G |
probably benign |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,446,189 (GRCm39) |
|
probably null |
Het |
| Pitpnm1 |
A |
T |
19: 4,155,135 (GRCm39) |
H321L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,130 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,303 (GRCm39) |
D2197G |
possibly damaging |
Het |
| Rps10 |
A |
G |
17: 27,853,208 (GRCm39) |
S54P |
probably damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,422 (GRCm39) |
S89P |
probably benign |
Het |
| Sh3yl1 |
T |
C |
12: 30,992,072 (GRCm39) |
Y176H |
probably damaging |
Het |
| Sppl2c |
G |
T |
11: 104,077,532 (GRCm39) |
A111S |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,598 (GRCm39) |
E317G |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,076,324 (GRCm39) |
E425G |
probably damaging |
Het |
| Stxbp1 |
C |
T |
2: 32,707,293 (GRCm39) |
|
probably null |
Het |
| Traf6 |
G |
A |
2: 101,527,801 (GRCm39) |
R517Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,387 (GRCm39) |
V295A |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,941,091 (GRCm39) |
D383E |
possibly damaging |
Het |
| Zfp984 |
A |
G |
4: 147,839,796 (GRCm39) |
C352R |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGAAAGCACTGACTCGG -3'
(R):5'- GTTTCAGAGTAAGGCAGAGACC -3'
Sequencing Primer
(F):5'- GCAGGCTGTGTGTTTATCAACATC -3'
(R):5'- TAAGGCAGAGACCAGGTGACTAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation