Incidental Mutation 'R8454:Dnai3'
| ID |
654913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai3
|
| Ensembl Gene |
ENSMUSG00000043020 |
| Gene Name |
dynein axonemal intermediate chain 3 |
| Synonyms |
4931433A13Rik, Wdr63, Ida7, IC140 |
| MMRRC Submission |
067831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8454 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
145746281-145813855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145802982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 70
(K70E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160285]
|
| AlphaFold |
B2RY71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160285
AA Change: K70E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124475
Gene: ENSMUSG00000043020
AA Change: K70E
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,635,103 (GRCm39) |
G300V |
possibly damaging |
Het |
| Adgrg7 |
C |
G |
16: 56,616,045 (GRCm39) |
|
probably benign |
Het |
| Agt |
G |
A |
8: 125,290,842 (GRCm39) |
T155M |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,633 (GRCm39) |
V763A |
probably benign |
Het |
| Btn1a1 |
C |
A |
13: 23,648,420 (GRCm39) |
V138L |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,305,924 (GRCm39) |
N1109I |
probably benign |
Het |
| Cideb |
T |
A |
14: 55,992,598 (GRCm39) |
Q106L |
possibly damaging |
Het |
| Cntn1 |
A |
G |
15: 92,130,130 (GRCm39) |
T126A |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,226 (GRCm39) |
Y77H |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,912,358 (GRCm39) |
H386R |
probably damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,133,479 (GRCm39) |
D413G |
probably damaging |
Het |
| Fkbp8 |
T |
A |
8: 70,984,413 (GRCm39) |
|
probably null |
Het |
| Fzd1 |
T |
C |
5: 4,807,336 (GRCm39) |
Q82R |
probably benign |
Het |
| Gast |
T |
C |
11: 100,227,394 (GRCm39) |
L29P |
probably benign |
Het |
| Glb1l2 |
C |
A |
9: 26,717,713 (GRCm39) |
|
probably benign |
Het |
| Gm1110 |
C |
G |
9: 26,794,576 (GRCm39) |
Q483H |
probably benign |
Het |
| Gm1110 |
T |
A |
9: 26,794,577 (GRCm39) |
Q483L |
probably benign |
Het |
| Gpc6 |
T |
C |
14: 117,163,391 (GRCm39) |
L15P |
probably damaging |
Het |
| Hagh |
C |
A |
17: 25,076,536 (GRCm39) |
S161* |
probably null |
Het |
| Hrh1 |
A |
G |
6: 114,457,814 (GRCm39) |
D365G |
probably benign |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,560 (GRCm39) |
M100K |
probably damaging |
Het |
| Itgb8 |
A |
T |
12: 119,134,513 (GRCm39) |
V518D |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,450,238 (GRCm39) |
Y486C |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,810,357 (GRCm39) |
S85P |
probably damaging |
Het |
| Met |
A |
G |
6: 17,491,768 (GRCm39) |
S177G |
probably damaging |
Het |
| Myl9 |
T |
A |
2: 156,623,048 (GRCm39) |
I162N |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,478,251 (GRCm39) |
N973K |
possibly damaging |
Het |
| Or5p68 |
A |
T |
7: 107,945,889 (GRCm39) |
C100S |
probably damaging |
Het |
| Pcdhga12 |
A |
T |
18: 37,901,190 (GRCm39) |
D674V |
possibly damaging |
Het |
| Phtf1 |
T |
A |
3: 103,911,765 (GRCm39) |
N702K |
probably damaging |
Het |
| Plaa |
A |
T |
4: 94,457,714 (GRCm39) |
I752N |
probably damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,038,011 (GRCm39) |
C194R |
probably damaging |
Het |
| Rnaseh2a |
T |
C |
8: 85,691,776 (GRCm39) |
N133S |
probably benign |
Het |
| Rps6ka1 |
T |
A |
4: 133,575,864 (GRCm39) |
Q685L |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,715,142 (GRCm39) |
G4661C |
unknown |
Het |
| Samd13 |
T |
A |
3: 146,352,157 (GRCm39) |
M65L |
probably benign |
Het |
| Sdr42e2 |
T |
A |
7: 120,430,403 (GRCm39) |
V420E |
possibly damaging |
Het |
| Sec22c |
A |
G |
9: 121,524,721 (GRCm39) |
S21P |
probably damaging |
Het |
| Sh3d19 |
C |
A |
3: 86,014,329 (GRCm39) |
T431K |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,468,108 (GRCm39) |
M277V |
probably benign |
Het |
| Sis |
T |
C |
3: 72,854,834 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,956,513 (GRCm39) |
N753S |
probably benign |
Het |
| Slitrk6 |
C |
A |
14: 110,989,478 (GRCm39) |
L76F |
probably damaging |
Het |
| Stk3 |
C |
T |
15: 34,876,870 (GRCm39) |
A478T |
probably damaging |
Het |
| Styxl2 |
A |
T |
1: 165,935,702 (GRCm39) |
N165K |
probably damaging |
Het |
| Sugp1 |
C |
A |
8: 70,524,247 (GRCm39) |
Y617* |
probably null |
Het |
| Tinag |
T |
C |
9: 76,938,977 (GRCm39) |
D167G |
probably damaging |
Het |
| Tk2 |
A |
G |
8: 104,967,746 (GRCm39) |
|
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,489,308 (GRCm39) |
V514D |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,723,320 (GRCm39) |
H260R |
probably benign |
Het |
| Tnfrsf14 |
T |
A |
4: 155,011,112 (GRCm39) |
Y83F |
possibly damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,014,553 (GRCm39) |
D285E |
probably benign |
Het |
| Togaram2 |
C |
G |
17: 72,004,873 (GRCm39) |
A310G |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,182,448 (GRCm39) |
Y544C |
probably damaging |
Het |
| Ttl |
T |
A |
2: 128,908,104 (GRCm39) |
V13D |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,908,694 (GRCm39) |
D602E |
probably benign |
Het |
| Vamp5 |
A |
G |
6: 72,347,376 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,402 (GRCm39) |
H838L |
possibly damaging |
Het |
| Vps35l |
T |
A |
7: 118,391,795 (GRCm39) |
F493Y |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,461 (GRCm39) |
Y392N |
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 |
|
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 |
|
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'- CAGCGTTGATGCAAAATCTTCC -3'
(R):5'- CCAAGTGCTGGGATTAGAGG -3'
Sequencing Primer
(F):5'- GCAAAATCTTCCTAACTTGTGTTGTG -3'
(R):5'- ATTAGAGGTGTGCGCCAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation