Incidental Mutation 'R2185:Dnai3'
| ID |
237810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai3
|
| Ensembl Gene |
ENSMUSG00000043020 |
| Gene Name |
dynein axonemal intermediate chain 3 |
| Synonyms |
4931433A13Rik, Wdr63, Ida7, IC140 |
| MMRRC Submission |
040187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R2185 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
145746281-145813855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145772619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 476
(S476P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160285]
|
| AlphaFold |
B2RY71 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160285
AA Change: S476P
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124475
Gene: ENSMUSG00000043020
AA Change: S476P
| 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 |
0.0800 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
| Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
| Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
| Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
| Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
| Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
| Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
| Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
| Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
| Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
| Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
| Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
| Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
| Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
| Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
| Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
| Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
| Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
| Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
| Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
| Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
| Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
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 |
|
|
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 |
|
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'- GAAGCTAGAGCGAACTCCTAAAGC -3'
(R):5'- TGGTATAGGGAAACACGAATTTGTG -3'
Sequencing Primer
(F):5'- TTAGTACAGCGCTTGCCAAG -3'
(R):5'- CACGAATTTGTGTTTTACCTTAACTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation