Incidental Mutation 'R0720:Rmdn2'
| ID |
63533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rmdn2
|
| Ensembl Gene |
ENSMUSG00000036368 |
| Gene Name |
regulator of microtubule dynamics 2 |
| Synonyms |
Fam82a1 |
| MMRRC Submission |
038902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R0720 (G1)
|
| Quality Score |
148 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79919292-80000621 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 79975458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040368]
[ENSMUST00000225357]
|
| AlphaFold |
Q8BSE0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040368
|
| SMART Domains |
Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226004
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,024,063 (GRCm39) |
I136T |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,646,572 (GRCm39) |
D416G |
probably damaging |
Het |
| Commd4 |
G |
T |
9: 57,062,718 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,327,213 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,314,007 (GRCm39) |
N1941S |
probably null |
Het |
| Dynap |
T |
C |
18: 70,374,055 (GRCm39) |
D157G |
unknown |
Het |
| Entrep2 |
A |
G |
7: 64,469,658 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,410,242 (GRCm39) |
|
probably null |
Het |
| Fbxo25 |
A |
G |
8: 13,985,222 (GRCm39) |
Y305C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,530,241 (GRCm39) |
D36G |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,805 (GRCm39) |
T438A |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,971,923 (GRCm39) |
Y288F |
possibly damaging |
Het |
| Gm3164 |
C |
A |
14: 4,442,719 (GRCm38) |
S218R |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,811,453 (GRCm39) |
I392M |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,515 (GRCm39) |
M262V |
possibly damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,104,344 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,326,718 (GRCm39) |
N4926K |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,201,406 (GRCm39) |
S631P |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,781,220 (GRCm39) |
H139R |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,688 (GRCm39) |
N170I |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,013 (GRCm39) |
T157S |
probably benign |
Het |
| Ptger2 |
T |
C |
14: 45,226,590 (GRCm39) |
C57R |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,114,769 (GRCm39) |
V59A |
probably damaging |
Het |
| Rxfp2 |
G |
T |
5: 149,967,584 (GRCm39) |
K148N |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,018,057 (GRCm39) |
T623M |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,269 (GRCm39) |
L139P |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,584,960 (GRCm39) |
|
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,971 (GRCm39) |
I223T |
probably damaging |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,156 (GRCm39) |
Y102C |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,964,740 (GRCm39) |
L1297P |
probably benign |
Het |
| Txndc8 |
C |
T |
4: 57,984,245 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,235 (GRCm39) |
N2622S |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,305 (GRCm39) |
F330I |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,925,948 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACTTACTCAAGCATGGCCTC -3'
(R):5'- CCCAAAGTATGACTTCTGCCGTTCC -3'
Sequencing Primer
(F):5'- ACAGCTTCAGTTCCACGG -3'
(R):5'- cacacacacacacacacacac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation