Incidental Mutation 'R1126:Rmdn3'
ID |
96130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rmdn3
|
Ensembl Gene |
ENSMUSG00000070730 |
Gene Name |
regulator of microtubule dynamics 3 |
Synonyms |
Fam82a2, 1200015F23Rik |
MMRRC Submission |
039199-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1126 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
118967482-118987515 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118984476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 92
(D92G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094695]
[ENSMUST00000129351]
[ENSMUST00000135419]
[ENSMUST00000139519]
|
AlphaFold |
Q3UJU9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094695
AA Change: D92G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000092283 Gene: ENSMUSG00000070730 AA Change: D92G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
coiled coil region
|
91 |
122 |
N/A |
INTRINSIC |
low complexity region
|
135 |
148 |
N/A |
INTRINSIC |
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
SCOP:d1hxia_
|
354 |
445 |
1e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129351
|
SMART Domains |
Protein: ENSMUSP00000119498 Gene: ENSMUSG00000070730
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135419
|
SMART Domains |
Protein: ENSMUSP00000123373 Gene: ENSMUSG00000070730
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139519
|
SMART Domains |
Protein: ENSMUSP00000115973 Gene: ENSMUSG00000070730
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,759,062 (GRCm39) |
E1226G |
probably damaging |
Het |
Arhgef40 |
G |
T |
14: 52,234,583 (GRCm39) |
S962I |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,822,169 (GRCm39) |
M477K |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,770,222 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,041,226 (GRCm39) |
M727K |
possibly damaging |
Het |
Exo5 |
A |
T |
4: 120,779,322 (GRCm39) |
I181N |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,163,112 (GRCm39) |
|
probably null |
Het |
Gas6 |
T |
C |
8: 13,533,700 (GRCm39) |
N103S |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,699 (GRCm39) |
C140* |
probably null |
Het |
Il6st |
T |
C |
13: 112,640,266 (GRCm39) |
Y681H |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,918 (GRCm39) |
|
probably null |
Het |
Kdm5b |
C |
T |
1: 134,541,729 (GRCm39) |
A768V |
possibly damaging |
Het |
Krt87 |
A |
T |
15: 101,385,363 (GRCm39) |
N336K |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,748,670 (GRCm39) |
V65A |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,081 (GRCm39) |
N90S |
probably benign |
Het |
Nlrp9a |
C |
A |
7: 26,260,166 (GRCm39) |
D640E |
probably benign |
Het |
Or11h4b |
C |
T |
14: 50,918,720 (GRCm39) |
A124T |
possibly damaging |
Het |
Or1l4 |
A |
T |
2: 37,092,113 (GRCm39) |
M287L |
probably benign |
Het |
Or2j3 |
A |
G |
17: 38,615,579 (GRCm39) |
C258R |
probably damaging |
Het |
Or5p53 |
A |
C |
7: 107,533,578 (GRCm39) |
M284L |
possibly damaging |
Het |
Parp9 |
G |
A |
16: 35,768,110 (GRCm39) |
V97I |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,458,306 (GRCm39) |
T12A |
possibly damaging |
Het |
Penk |
T |
C |
4: 4,138,119 (GRCm39) |
T9A |
probably benign |
Het |
Pilrb2 |
T |
C |
5: 137,869,222 (GRCm39) |
D126G |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,700,515 (GRCm39) |
V1807E |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 4,906,795 (GRCm39) |
E450G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,034 (GRCm39) |
R703G |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rp1l1 |
G |
A |
14: 64,267,918 (GRCm39) |
G1168D |
probably damaging |
Het |
Saxo1 |
T |
A |
4: 86,397,224 (GRCm39) |
T105S |
probably benign |
Het |
Slc39a2 |
G |
A |
14: 52,131,602 (GRCm39) |
G58R |
probably damaging |
Het |
Tbx6 |
C |
T |
7: 126,383,891 (GRCm39) |
T315I |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,907,715 (GRCm39) |
M99T |
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,718,210 (GRCm39) |
D197G |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,936,357 (GRCm39) |
N193S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,680,347 (GRCm39) |
|
probably benign |
Het |
Vmn1r225 |
A |
G |
17: 20,722,588 (GRCm39) |
I10V |
probably benign |
Het |
Zp3r |
A |
G |
1: 130,546,079 (GRCm39) |
L77P |
probably damaging |
Het |
|
Other mutations in Rmdn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01374:Rmdn3
|
APN |
2 |
118,984,428 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01684:Rmdn3
|
APN |
2 |
118,978,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02892:Rmdn3
|
APN |
2 |
118,984,561 (GRCm39) |
missense |
probably benign |
0.00 |
R0534:Rmdn3
|
UTSW |
2 |
118,976,851 (GRCm39) |
missense |
probably benign |
0.00 |
R2332:Rmdn3
|
UTSW |
2 |
118,984,008 (GRCm39) |
unclassified |
probably benign |
|
R3850:Rmdn3
|
UTSW |
2 |
118,986,903 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5034:Rmdn3
|
UTSW |
2 |
118,978,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5221:Rmdn3
|
UTSW |
2 |
118,986,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R5942:Rmdn3
|
UTSW |
2 |
118,978,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R6049:Rmdn3
|
UTSW |
2 |
118,983,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R6188:Rmdn3
|
UTSW |
2 |
118,969,831 (GRCm39) |
critical splice donor site |
probably null |
|
R7011:Rmdn3
|
UTSW |
2 |
118,968,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7181:Rmdn3
|
UTSW |
2 |
118,969,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R8277:Rmdn3
|
UTSW |
2 |
118,976,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R8721:Rmdn3
|
UTSW |
2 |
118,969,846 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9144:Rmdn3
|
UTSW |
2 |
118,969,847 (GRCm39) |
missense |
probably benign |
0.21 |
R9172:Rmdn3
|
UTSW |
2 |
118,968,863 (GRCm39) |
missense |
probably benign |
0.00 |
R9317:Rmdn3
|
UTSW |
2 |
118,986,991 (GRCm39) |
missense |
unknown |
|
R9727:Rmdn3
|
UTSW |
2 |
118,968,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCAATAGGCCAAAGGGCACAGC -3'
(R):5'- AGGAAATGGCCCAGCTCATGTCTC -3'
Sequencing Primer
(F):5'- TGGGCTTGTTTAGAACCACAAAG -3'
(R):5'- gtccaatcccagccccc -3'
|
Posted On |
2014-01-05 |