Incidental Mutation 'R7111:Dnai3'
ID |
551500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai3
|
Ensembl Gene |
ENSMUSG00000043020 |
Gene Name |
dynein axonemal intermediate chain 3 |
Synonyms |
4931433A13Rik, Wdr63, Ida7, IC140 |
MMRRC Submission |
045203-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R7111 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
145746281-145813855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145803028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 54
(I54M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160285]
|
AlphaFold |
B2RY71 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160285
AA Change: I54M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124475 Gene: ENSMUSG00000043020 AA Change: I54M
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
G |
19: 57,062,309 (GRCm39) |
N384T |
probably benign |
Het |
Agap3 |
A |
G |
5: 24,706,396 (GRCm39) |
Y843C |
probably damaging |
Het |
Aldh9a1 |
T |
A |
1: 167,182,021 (GRCm39) |
V118E |
probably benign |
Het |
Arhgef26 |
T |
A |
3: 62,252,689 (GRCm39) |
S414T |
possibly damaging |
Het |
Armc9 |
T |
C |
1: 86,087,717 (GRCm39) |
Y18H |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
Casp1 |
A |
T |
9: 5,299,816 (GRCm39) |
E96D |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,611,998 (GRCm39) |
I898V |
probably benign |
Het |
Cd79b |
T |
C |
11: 106,205,365 (GRCm39) |
I42M |
possibly damaging |
Het |
Cdca7 |
G |
A |
2: 72,315,575 (GRCm39) |
R346H |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 110,065,638 (GRCm39) |
S176P |
|
Het |
Cdh23 |
T |
A |
10: 60,222,823 (GRCm39) |
D1200V |
probably damaging |
Het |
Cdkn1c |
T |
C |
7: 143,014,326 (GRCm39) |
D40G |
possibly damaging |
Het |
Ckap5 |
G |
A |
2: 91,437,917 (GRCm39) |
R1666H |
probably damaging |
Het |
Cxcl1 |
A |
G |
5: 91,039,182 (GRCm39) |
T5A |
unknown |
Het |
Dnah2 |
A |
C |
11: 69,337,579 (GRCm39) |
|
probably null |
Het |
Ephb3 |
A |
T |
16: 21,037,577 (GRCm39) |
K500* |
probably null |
Het |
Fam13c |
T |
A |
10: 70,390,336 (GRCm39) |
H533Q |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,064,682 (GRCm39) |
D4879E |
probably damaging |
Het |
Grk6 |
G |
T |
13: 55,606,733 (GRCm39) |
W511L |
probably damaging |
Het |
Hivep3 |
G |
C |
4: 119,952,431 (GRCm39) |
S249T |
possibly damaging |
Het |
Iqch |
T |
A |
9: 63,419,599 (GRCm39) |
Y496F |
possibly damaging |
Het |
Itga2 |
T |
C |
13: 115,037,066 (GRCm39) |
I21V |
unknown |
Het |
Itpr2 |
A |
T |
6: 146,226,554 (GRCm39) |
C1397S |
probably damaging |
Het |
Krt86 |
A |
T |
15: 101,374,498 (GRCm39) |
Y297F |
possibly damaging |
Het |
Limch1 |
G |
T |
5: 67,182,519 (GRCm39) |
|
probably null |
Het |
Mfsd6 |
G |
T |
1: 52,748,917 (GRCm39) |
|
probably null |
Het |
Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
Nme8 |
G |
A |
13: 19,859,817 (GRCm39) |
R268W |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or10p1 |
T |
A |
10: 129,443,829 (GRCm39) |
I174F |
possibly damaging |
Het |
Or5d36 |
G |
A |
2: 87,901,000 (GRCm39) |
T242I |
probably damaging |
Het |
Pappa2 |
T |
A |
1: 158,784,096 (GRCm39) |
I305F |
probably benign |
Het |
Pdlim3 |
A |
G |
8: 46,370,539 (GRCm39) |
K232E |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,219,359 (GRCm39) |
E278G |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,057,906 (GRCm39) |
D47G |
probably benign |
Het |
Sema4c |
G |
A |
1: 36,592,160 (GRCm39) |
T229M |
possibly damaging |
Het |
Serpina3j |
T |
A |
12: 104,283,792 (GRCm39) |
W297R |
probably damaging |
Het |
Serpinb11 |
A |
G |
1: 107,304,614 (GRCm39) |
E193G |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,289 (GRCm39) |
I966V |
probably benign |
Het |
Siglece |
T |
C |
7: 43,309,327 (GRCm39) |
D77G |
probably damaging |
Het |
Sqstm1 |
G |
T |
11: 50,093,418 (GRCm39) |
Q327K |
probably benign |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Styxl2 |
T |
C |
1: 165,954,723 (GRCm39) |
E9G |
possibly damaging |
Het |
Svep1 |
A |
T |
4: 58,118,207 (GRCm39) |
D838E |
possibly damaging |
Het |
Tacc2 |
G |
A |
7: 130,330,618 (GRCm39) |
A191T |
probably benign |
Het |
Tnfrsf18 |
T |
A |
4: 156,113,168 (GRCm39) |
W285R |
probably damaging |
Het |
Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
Uaca |
C |
T |
9: 60,779,120 (GRCm39) |
T1169I |
probably benign |
Het |
Umod |
G |
T |
7: 119,076,369 (GRCm39) |
Y132* |
probably null |
Het |
Vmn2r31 |
A |
G |
7: 7,399,480 (GRCm39) |
F159S |
probably damaging |
Het |
Vmn2r82 |
C |
T |
10: 79,214,605 (GRCm39) |
T196I |
probably benign |
Het |
Wrap53 |
A |
T |
11: 69,453,305 (GRCm39) |
W379R |
probably damaging |
Het |
Zfp866 |
A |
T |
8: 70,219,221 (GRCm39) |
V133D |
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 |
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 |
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'- CTGGCAAGTCCCTGAGTTAG -3'
(R):5'- TCAGAAATCCACCTGCCTCTG -3'
Sequencing Primer
(F):5'- GGACTGAGAACAAACAGCTCACTTG -3'
(R):5'- GGATTAGAGGTGTGCGCCAC -3'
|
Posted On |
2019-05-15 |