Incidental Mutation 'R0589:Dnai3'
ID |
55863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai3
|
Ensembl Gene |
ENSMUSG00000043020 |
Gene Name |
dynein axonemal intermediate chain 3 |
Synonyms |
4931433A13Rik, Wdr63, Ida7, IC140 |
MMRRC Submission |
038779-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R0589 (G1)
|
Quality Score |
186 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
145746281-145813855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145768086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 592
(S592P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160285]
|
AlphaFold |
B2RY71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000160285
AA Change: S592P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000124475 Gene: ENSMUSG00000043020 AA Change: S592P
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 |
0.0675 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.1%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,833,094 (GRCm39) |
A1202E |
probably damaging |
Het |
Abcc12 |
A |
T |
8: 87,287,101 (GRCm39) |
I155N |
possibly damaging |
Het |
Atf4 |
T |
A |
15: 80,140,640 (GRCm39) |
H47Q |
probably damaging |
Het |
Atm |
T |
A |
9: 53,401,492 (GRCm39) |
D1459V |
possibly damaging |
Het |
Bicral |
A |
G |
17: 47,112,522 (GRCm39) |
S893P |
probably benign |
Het |
Camk2a |
G |
A |
18: 61,097,036 (GRCm39) |
|
probably null |
Het |
Cebpz |
G |
A |
17: 79,244,308 (GRCm39) |
T51I |
probably damaging |
Het |
Cers5 |
A |
T |
15: 99,638,837 (GRCm39) |
D208E |
probably damaging |
Het |
Cimip2b |
T |
C |
4: 43,427,355 (GRCm39) |
|
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,586,345 (GRCm39) |
D391G |
possibly damaging |
Het |
Dct |
G |
T |
14: 118,280,682 (GRCm39) |
F111L |
probably benign |
Het |
Ddb1 |
T |
G |
19: 10,599,080 (GRCm39) |
I529S |
probably benign |
Het |
Dhx9 |
G |
T |
1: 153,348,037 (GRCm39) |
Q361K |
probably damaging |
Het |
Erbin |
G |
T |
13: 104,022,795 (GRCm39) |
R15S |
probably damaging |
Het |
F13b |
T |
C |
1: 139,434,671 (GRCm39) |
S146P |
possibly damaging |
Het |
Ggnbp2 |
A |
T |
11: 84,727,277 (GRCm39) |
C520S |
probably damaging |
Het |
Gpx3 |
A |
G |
11: 54,800,329 (GRCm39) |
I208V |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,076,629 (GRCm39) |
|
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,405,516 (GRCm39) |
|
probably benign |
Het |
Heg1 |
T |
G |
16: 33,552,077 (GRCm39) |
I762R |
probably damaging |
Het |
Ints11 |
A |
T |
4: 155,971,343 (GRCm39) |
T264S |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,887,113 (GRCm39) |
L348P |
probably damaging |
Het |
Maco1 |
C |
A |
4: 134,555,528 (GRCm39) |
C315F |
probably benign |
Het |
Marf1 |
C |
A |
16: 13,959,919 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,174,075 (GRCm39) |
Y1808H |
probably damaging |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Mrpl45 |
A |
T |
11: 97,214,714 (GRCm39) |
T134S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,189,453 (GRCm39) |
I1210V |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,131,303 (GRCm39) |
S223P |
probably damaging |
Het |
Or2j6 |
T |
G |
7: 139,980,813 (GRCm39) |
S49R |
possibly damaging |
Het |
Or4c115 |
A |
G |
2: 88,927,606 (GRCm39) |
F222L |
probably benign |
Het |
Or5be3 |
A |
T |
2: 86,864,459 (GRCm39) |
Y35* |
probably null |
Het |
P3h3 |
T |
A |
6: 124,818,644 (GRCm39) |
E731D |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,279,527 (GRCm39) |
R836G |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,376,385 (GRCm39) |
V1250A |
probably benign |
Het |
Pgbd1 |
G |
A |
13: 21,618,600 (GRCm39) |
T19I |
possibly damaging |
Het |
Phtf2 |
T |
A |
5: 21,018,249 (GRCm39) |
R31* |
probably null |
Het |
Plod2 |
T |
A |
9: 92,475,799 (GRCm39) |
V294D |
probably benign |
Het |
Rassf5 |
C |
T |
1: 131,172,720 (GRCm39) |
G50R |
probably damaging |
Het |
Rexo5 |
A |
G |
7: 119,444,606 (GRCm39) |
T694A |
probably benign |
Het |
Rtcb |
A |
C |
10: 85,787,315 (GRCm39) |
S82A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,172,042 (GRCm39) |
L255P |
probably damaging |
Het |
Slc35c1 |
A |
G |
2: 92,284,859 (GRCm39) |
F252L |
probably damaging |
Het |
Slco6d1 |
A |
T |
1: 98,427,472 (GRCm39) |
|
probably benign |
Het |
Sox10 |
T |
G |
15: 79,047,485 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
G |
2: 120,529,028 (GRCm39) |
M1762V |
probably benign |
Het |
Stat3 |
A |
T |
11: 100,798,909 (GRCm39) |
Y94N |
probably damaging |
Het |
Tasor |
T |
C |
14: 27,183,107 (GRCm39) |
I522T |
probably benign |
Het |
Tecta |
T |
A |
9: 42,256,930 (GRCm39) |
Y1582F |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,355,453 (GRCm39) |
D454G |
probably damaging |
Het |
Tle6 |
A |
G |
10: 81,431,253 (GRCm39) |
|
probably benign |
Het |
Tmod2 |
T |
C |
9: 75,484,041 (GRCm39) |
E303G |
probably damaging |
Het |
Trem1 |
A |
G |
17: 48,544,245 (GRCm39) |
D90G |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,284,229 (GRCm39) |
D751E |
probably benign |
Het |
Ttn |
A |
T |
2: 76,795,589 (GRCm39) |
|
probably null |
Het |
Vars2 |
T |
C |
17: 35,970,068 (GRCm39) |
T774A |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACAAGCTGCCTCTCTCGTAAAG -3'
(R):5'- GCCATCCAGTTAAAAGCAAGGTCCC -3'
Sequencing Primer
(F):5'- GCGTGCTCTTACGAATCAG -3'
(R):5'- GGGGTAGTGATACAAGGTGAGTTTC -3'
|
Posted On |
2013-07-11 |