Incidental Mutation 'IGL00093:Dnai3'
| ID |
1750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnai3
|
| Ensembl Gene |
ENSMUSG00000043020 |
| Gene Name |
dynein axonemal intermediate chain 3 |
| Synonyms |
4931433A13Rik, Wdr63, Ida7, IC140 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
IGL00093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
145746281-145813855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 145788759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 274
(G274E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160285]
|
| AlphaFold |
B2RY71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160285
AA Change: G274E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124475
Gene: ENSMUSG00000043020
AA Change: G274E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
C |
16: 21,472,310 (GRCm39) |
D60G |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,335,975 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
T |
10: 61,065,455 (GRCm39) |
R348H |
probably damaging |
Het |
| Aimp2 |
A |
T |
5: 143,843,524 (GRCm39) |
I22N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,653,405 (GRCm39) |
|
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,860,575 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,022,433 (GRCm39) |
V263A |
probably benign |
Het |
| Cldn6 |
T |
A |
17: 23,900,698 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,450,130 (GRCm39) |
M30V |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,908,503 (GRCm39) |
E243K |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,669,836 (GRCm39) |
Y257H |
probably damaging |
Het |
| Dzank1 |
A |
T |
2: 144,323,645 (GRCm39) |
Y600* |
probably null |
Het |
| Flvcr1 |
T |
A |
1: 190,747,686 (GRCm39) |
R201* |
probably null |
Het |
| Fstl4 |
G |
A |
11: 53,077,102 (GRCm39) |
V620I |
probably benign |
Het |
| Gm21976 |
G |
A |
13: 98,439,069 (GRCm39) |
V20M |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,604 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,263,738 (GRCm39) |
V674A |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,378 (GRCm39) |
Y612* |
probably null |
Het |
| Marco |
A |
G |
1: 120,413,432 (GRCm39) |
V295A |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,150,162 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,779,075 (GRCm39) |
L41P |
probably damaging |
Het |
| Or51a42 |
T |
C |
7: 103,708,623 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or6c217 |
T |
A |
10: 129,738,528 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,911,971 (GRCm39) |
M245T |
unknown |
Het |
| Pomt1 |
A |
G |
2: 32,131,784 (GRCm39) |
I158V |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,646,727 (GRCm39) |
W967R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,875,533 (GRCm39) |
M270K |
possibly damaging |
Het |
| Spats2 |
A |
G |
15: 99,078,474 (GRCm39) |
E179G |
possibly damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,866 (GRCm39) |
V11A |
probably benign |
Het |
| Tasor |
T |
G |
14: 27,170,163 (GRCm39) |
L364R |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,522,696 (GRCm39) |
F185S |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,198 (GRCm39) |
I901V |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,332 (GRCm39) |
N371S |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,854 (GRCm39) |
V433D |
probably damaging |
Het |
| Wasf3 |
G |
A |
5: 146,392,461 (GRCm39) |
R177Q |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,173 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,738 (GRCm39) |
I194T |
probably damaging |
Het |
|
| Other mutations in Dnai3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2011-07-12 |
Incidental Mutation