Incidental Mutation 'R0014:Dnai3'
ID |
8171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai3
|
Ensembl Gene |
ENSMUSG00000043020 |
Gene Name |
dynein axonemal intermediate chain 3 |
Synonyms |
4931433A13Rik, Wdr63, Ida7, IC140 |
MMRRC Submission |
038309-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R0014 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
145746281-145813855 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 145787178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160285]
|
AlphaFold |
B2RY71 |
Predicted Effect |
probably null
Transcript: ENSMUST00000160285
|
SMART Domains |
Protein: ENSMUSP00000124475 Gene: ENSMUSG00000043020
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
low complexity region
|
26 |
35 |
N/A |
INTRINSIC |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
165 |
180 |
N/A |
INTRINSIC |
Blast:WD40
|
321 |
367 |
6e-19 |
BLAST |
low complexity region
|
375 |
383 |
N/A |
INTRINSIC |
WD40
|
390 |
429 |
6.34e-2 |
SMART |
WD40
|
470 |
527 |
1.15e-4 |
SMART |
low complexity region
|
536 |
553 |
N/A |
INTRINSIC |
WD40
|
693 |
732 |
1.07e1 |
SMART |
WD40
|
737 |
776 |
1.1e2 |
SMART |
coiled coil region
|
867 |
902 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 75.1%
- 3x: 61.1%
- 10x: 30.7%
- 20x: 14.1%
|
Validation Efficiency |
90% (62/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
C |
T |
12: 21,386,645 (GRCm39) |
E445K |
probably benign |
Het |
Als2 |
A |
G |
1: 59,250,547 (GRCm39) |
V399A |
possibly damaging |
Het |
Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
Clcc1 |
T |
A |
3: 108,568,712 (GRCm39) |
C10* |
probably null |
Het |
Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
Dpyd |
T |
C |
3: 118,935,584 (GRCm39) |
S670P |
probably damaging |
Het |
Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
Exog |
T |
C |
9: 119,281,344 (GRCm39) |
I218T |
probably damaging |
Het |
F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,165,603 (GRCm39) |
Y108* |
probably null |
Het |
Fhad1 |
A |
T |
4: 141,655,719 (GRCm39) |
L795Q |
probably damaging |
Het |
Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,947,168 (GRCm39) |
D347G |
probably damaging |
Het |
Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
Khdrbs3 |
A |
G |
15: 68,896,684 (GRCm39) |
T115A |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
A |
C |
2: 155,279,963 (GRCm39) |
S18A |
possibly damaging |
Het |
Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
Nek6 |
T |
C |
2: 38,448,856 (GRCm39) |
|
probably benign |
Het |
Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
Pi4kb |
T |
G |
3: 94,906,208 (GRCm39) |
I612S |
probably damaging |
Het |
Pitx2 |
T |
G |
3: 129,012,148 (GRCm39) |
S193A |
possibly damaging |
Het |
Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
|
Other mutations in Dnai3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Dnai3
|
APN |
3 |
145,788,759 (GRCm39) |
missense |
probably benign |
|
IGL00565:Dnai3
|
APN |
3 |
145,750,674 (GRCm39) |
splice site |
probably benign |
|
IGL01339:Dnai3
|
APN |
3 |
145,748,591 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01952:Dnai3
|
APN |
3 |
145,802,918 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02663:Dnai3
|
APN |
3 |
145,760,312 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02710:Dnai3
|
APN |
3 |
145,753,903 (GRCm39) |
missense |
possibly damaging |
0.96 |
P0041:Dnai3
|
UTSW |
3 |
145,786,997 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0014:Dnai3
|
UTSW |
3 |
145,787,178 (GRCm39) |
splice site |
probably null |
|
R0498:Dnai3
|
UTSW |
3 |
145,787,119 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0589:Dnai3
|
UTSW |
3 |
145,768,086 (GRCm39) |
missense |
probably benign |
0.01 |
R1484:Dnai3
|
UTSW |
3 |
145,802,996 (GRCm39) |
missense |
probably benign |
0.02 |
R1537:Dnai3
|
UTSW |
3 |
145,748,504 (GRCm39) |
missense |
probably damaging |
0.98 |
R1611:Dnai3
|
UTSW |
3 |
145,801,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R1743:Dnai3
|
UTSW |
3 |
145,803,017 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1861:Dnai3
|
UTSW |
3 |
145,788,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Dnai3
|
UTSW |
3 |
145,769,235 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2185:Dnai3
|
UTSW |
3 |
145,772,619 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4299:Dnai3
|
UTSW |
3 |
145,774,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R4620:Dnai3
|
UTSW |
3 |
145,748,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R4649:Dnai3
|
UTSW |
3 |
145,753,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R4914:Dnai3
|
UTSW |
3 |
145,772,582 (GRCm39) |
missense |
probably damaging |
0.98 |
R4948:Dnai3
|
UTSW |
3 |
145,788,820 (GRCm39) |
nonsense |
probably null |
|
R5578:Dnai3
|
UTSW |
3 |
145,802,983 (GRCm39) |
nonsense |
probably null |
|
R6130:Dnai3
|
UTSW |
3 |
145,748,559 (GRCm39) |
missense |
probably benign |
0.25 |
R6162:Dnai3
|
UTSW |
3 |
145,750,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R6291:Dnai3
|
UTSW |
3 |
145,772,648 (GRCm39) |
missense |
probably benign |
0.00 |
R6390:Dnai3
|
UTSW |
3 |
145,801,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6560:Dnai3
|
UTSW |
3 |
145,801,161 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6893:Dnai3
|
UTSW |
3 |
145,786,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R7090:Dnai3
|
UTSW |
3 |
145,746,582 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7102:Dnai3
|
UTSW |
3 |
145,761,459 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7111:Dnai3
|
UTSW |
3 |
145,803,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R7260:Dnai3
|
UTSW |
3 |
145,752,295 (GRCm39) |
missense |
probably benign |
0.01 |
R7288:Dnai3
|
UTSW |
3 |
145,787,007 (GRCm39) |
missense |
probably damaging |
0.97 |
R7411:Dnai3
|
UTSW |
3 |
145,802,900 (GRCm39) |
missense |
probably damaging |
0.98 |
R7417:Dnai3
|
UTSW |
3 |
145,798,835 (GRCm39) |
splice site |
probably null |
|
R7466:Dnai3
|
UTSW |
3 |
145,761,373 (GRCm39) |
missense |
probably benign |
0.01 |
R7860:Dnai3
|
UTSW |
3 |
145,772,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R7964:Dnai3
|
UTSW |
3 |
145,774,531 (GRCm39) |
missense |
probably benign |
0.09 |
R8013:Dnai3
|
UTSW |
3 |
145,787,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Dnai3
|
UTSW |
3 |
145,752,428 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8191:Dnai3
|
UTSW |
3 |
145,800,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Dnai3
|
UTSW |
3 |
145,802,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R8454:Dnai3
|
UTSW |
3 |
145,802,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R8770:Dnai3
|
UTSW |
3 |
145,752,298 (GRCm39) |
missense |
probably benign |
0.01 |
R8967:Dnai3
|
UTSW |
3 |
145,761,395 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9135:Dnai3
|
UTSW |
3 |
145,772,589 (GRCm39) |
missense |
probably benign |
0.39 |
R9310:Dnai3
|
UTSW |
3 |
145,802,895 (GRCm39) |
critical splice donor site |
probably null |
|
R9664:Dnai3
|
UTSW |
3 |
145,748,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-11-20 |