Incidental Mutation 'R5783:Dnaaf9'
ID |
447843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf9
|
Ensembl Gene |
ENSMUSG00000027309 |
Gene Name |
dynein axonemal assembly factor 9 |
Synonyms |
4930402H24Rik |
MMRRC Submission |
043380-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5783 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 130581003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 582
(F582L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044766
AA Change: F713L
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046992 Gene: ENSMUSG00000027309 AA Change: F713L
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
low complexity region
|
463 |
473 |
N/A |
INTRINSIC |
low complexity region
|
533 |
545 |
N/A |
INTRINSIC |
coiled coil region
|
1143 |
1171 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119422
AA Change: F582L
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113481 Gene: ENSMUSG00000027309 AA Change: F582L
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
332 |
342 |
N/A |
INTRINSIC |
low complexity region
|
402 |
414 |
N/A |
INTRINSIC |
coiled coil region
|
1012 |
1040 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133132
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145851
AA Change: F222L
|
SMART Domains |
Protein: ENSMUSP00000118946 Gene: ENSMUSG00000027309 AA Change: F222L
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151673
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,468,787 (GRCm39) |
Y48F |
probably damaging |
Het |
Apob |
A |
G |
12: 8,051,022 (GRCm39) |
D1082G |
probably damaging |
Het |
Cald1 |
G |
A |
6: 34,730,468 (GRCm39) |
A236T |
possibly damaging |
Het |
Ccdc88b |
A |
C |
19: 6,831,284 (GRCm39) |
C553G |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,967,341 (GRCm39) |
D2161G |
probably benign |
Het |
Cep78 |
G |
T |
19: 15,933,723 (GRCm39) |
N618K |
probably benign |
Het |
Chka |
A |
G |
19: 3,914,661 (GRCm39) |
N118D |
probably damaging |
Het |
Dennd5a |
A |
C |
7: 109,493,843 (GRCm39) |
I1263S |
probably damaging |
Het |
Dnm3 |
T |
C |
1: 162,183,040 (GRCm39) |
T92A |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,518,655 (GRCm39) |
K50E |
probably damaging |
Het |
Fen1 |
G |
T |
19: 10,178,194 (GRCm39) |
Y83* |
probably null |
Het |
Gm1110 |
A |
G |
9: 26,793,632 (GRCm39) |
I532T |
probably benign |
Het |
H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
Impdh1 |
A |
T |
6: 29,206,342 (GRCm39) |
F140Y |
possibly damaging |
Het |
Kcnc4 |
T |
C |
3: 107,355,188 (GRCm39) |
D420G |
possibly damaging |
Het |
Kctd19 |
A |
G |
8: 106,113,612 (GRCm39) |
V664A |
probably benign |
Het |
Krt80 |
C |
T |
15: 101,257,360 (GRCm39) |
|
probably null |
Het |
Lars2 |
T |
G |
9: 123,290,661 (GRCm39) |
M876R |
probably benign |
Het |
Lrrc9 |
A |
G |
12: 72,502,827 (GRCm39) |
E266G |
possibly damaging |
Het |
Mesd |
T |
A |
7: 83,544,883 (GRCm39) |
V120E |
probably damaging |
Het |
Mogs |
C |
T |
6: 83,095,652 (GRCm39) |
T823I |
probably damaging |
Het |
Mrgprh |
C |
A |
17: 13,096,333 (GRCm39) |
T191N |
probably benign |
Het |
Mtss1 |
C |
T |
15: 58,815,373 (GRCm39) |
S729N |
probably benign |
Het |
Muc5b |
G |
T |
7: 141,412,165 (GRCm39) |
E1704* |
probably null |
Het |
Or2ag13 |
C |
A |
7: 106,472,541 (GRCm39) |
V304F |
probably damaging |
Het |
Or51m1 |
A |
T |
7: 103,578,149 (GRCm39) |
I40F |
probably damaging |
Het |
Or8k30 |
T |
C |
2: 86,338,982 (GRCm39) |
Y60H |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,103,644 (GRCm39) |
L216* |
probably null |
Het |
Pcdha5 |
T |
C |
18: 37,095,534 (GRCm39) |
V681A |
probably benign |
Het |
Pgap3 |
A |
C |
11: 98,281,290 (GRCm39) |
V190G |
probably benign |
Het |
Ppp2r5a |
A |
T |
1: 191,086,837 (GRCm39) |
Y373N |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,535,665 (GRCm39) |
L1675P |
probably damaging |
Het |
Rapgef2 |
T |
G |
3: 78,995,300 (GRCm39) |
I635L |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,995,452 (GRCm39) |
D193G |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,483,343 (GRCm39) |
V4140I |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,353,353 (GRCm39) |
|
probably null |
Het |
Shoc1 |
A |
T |
4: 59,076,239 (GRCm39) |
L568* |
probably null |
Het |
Slc41a3 |
T |
C |
6: 90,596,524 (GRCm39) |
I31T |
probably benign |
Het |
Smad9 |
T |
C |
3: 54,701,863 (GRCm39) |
V368A |
probably benign |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
St8sia1 |
T |
C |
6: 142,909,340 (GRCm39) |
N52S |
possibly damaging |
Het |
Svop |
T |
G |
5: 114,202,996 (GRCm39) |
D72A |
possibly damaging |
Het |
Sybu |
T |
C |
15: 44,609,810 (GRCm39) |
I153V |
probably damaging |
Het |
Tmem266 |
G |
T |
9: 55,305,087 (GRCm39) |
S32I |
probably damaging |
Het |
Trpm4 |
G |
T |
7: 44,959,813 (GRCm39) |
R694S |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,729,187 (GRCm39) |
L15P |
probably damaging |
Het |
Vrtn |
T |
A |
12: 84,697,251 (GRCm39) |
L667Q |
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,723,434 (GRCm39) |
S241R |
probably damaging |
Het |
Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
Zfp617 |
C |
A |
8: 72,686,308 (GRCm39) |
H213N |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,921,829 (GRCm39) |
G652D |
possibly damaging |
Het |
Zmiz2 |
T |
C |
11: 6,355,081 (GRCm39) |
L916P |
probably damaging |
Het |
|
Other mutations in Dnaaf9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00556:Dnaaf9
|
APN |
2 |
130,626,377 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01093:Dnaaf9
|
APN |
2 |
130,619,156 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01111:Dnaaf9
|
APN |
2 |
130,578,518 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01146:Dnaaf9
|
APN |
2 |
130,612,591 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01346:Dnaaf9
|
APN |
2 |
130,633,766 (GRCm39) |
splice site |
probably benign |
|
IGL01548:Dnaaf9
|
APN |
2 |
130,656,179 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02339:Dnaaf9
|
APN |
2 |
130,581,385 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02637:Dnaaf9
|
APN |
2 |
130,656,227 (GRCm39) |
intron |
probably benign |
|
IGL02926:Dnaaf9
|
APN |
2 |
130,554,286 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02978:Dnaaf9
|
APN |
2 |
130,569,082 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03126:Dnaaf9
|
APN |
2 |
130,633,915 (GRCm39) |
splice site |
probably null |
|
IGL03387:Dnaaf9
|
APN |
2 |
130,559,200 (GRCm39) |
missense |
probably damaging |
1.00 |
best_times
|
UTSW |
2 |
130,578,496 (GRCm39) |
missense |
probably damaging |
0.99 |
Hard_times
|
UTSW |
2 |
130,555,390 (GRCm39) |
missense |
probably benign |
0.16 |
worst_times
|
UTSW |
2 |
130,555,334 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Dnaaf9
|
UTSW |
2 |
130,612,668 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Dnaaf9
|
UTSW |
2 |
130,612,662 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Dnaaf9
|
UTSW |
2 |
130,612,672 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Dnaaf9
|
UTSW |
2 |
130,612,665 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Dnaaf9
|
UTSW |
2 |
130,612,672 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Dnaaf9
|
UTSW |
2 |
130,612,673 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Dnaaf9
|
UTSW |
2 |
130,612,662 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Dnaaf9
|
UTSW |
2 |
130,612,659 (GRCm39) |
small insertion |
probably benign |
|
R0034:Dnaaf9
|
UTSW |
2 |
130,578,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Dnaaf9
|
UTSW |
2 |
130,578,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R0357:Dnaaf9
|
UTSW |
2 |
130,554,866 (GRCm39) |
splice site |
probably benign |
|
R0379:Dnaaf9
|
UTSW |
2 |
130,627,466 (GRCm39) |
splice site |
probably benign |
|
R0515:Dnaaf9
|
UTSW |
2 |
130,582,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R0576:Dnaaf9
|
UTSW |
2 |
130,555,390 (GRCm39) |
missense |
probably benign |
0.16 |
R0811:Dnaaf9
|
UTSW |
2 |
130,555,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Dnaaf9
|
UTSW |
2 |
130,555,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R1334:Dnaaf9
|
UTSW |
2 |
130,617,642 (GRCm39) |
splice site |
probably null |
|
R1485:Dnaaf9
|
UTSW |
2 |
130,590,603 (GRCm39) |
critical splice donor site |
probably null |
|
R1486:Dnaaf9
|
UTSW |
2 |
130,579,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1670:Dnaaf9
|
UTSW |
2 |
130,554,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Dnaaf9
|
UTSW |
2 |
130,656,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R1700:Dnaaf9
|
UTSW |
2 |
130,551,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R1742:Dnaaf9
|
UTSW |
2 |
130,582,315 (GRCm39) |
splice site |
probably null |
|
R2046:Dnaaf9
|
UTSW |
2 |
130,652,837 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2374:Dnaaf9
|
UTSW |
2 |
130,662,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R3878:Dnaaf9
|
UTSW |
2 |
130,620,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3907:Dnaaf9
|
UTSW |
2 |
130,578,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R4467:Dnaaf9
|
UTSW |
2 |
130,609,567 (GRCm39) |
missense |
probably damaging |
0.96 |
R4931:Dnaaf9
|
UTSW |
2 |
130,583,793 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5098:Dnaaf9
|
UTSW |
2 |
130,640,101 (GRCm39) |
missense |
probably damaging |
0.99 |
R5191:Dnaaf9
|
UTSW |
2 |
130,579,323 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5313:Dnaaf9
|
UTSW |
2 |
130,551,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R5405:Dnaaf9
|
UTSW |
2 |
130,554,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Dnaaf9
|
UTSW |
2 |
130,606,419 (GRCm39) |
missense |
probably benign |
0.16 |
R5522:Dnaaf9
|
UTSW |
2 |
130,656,222 (GRCm39) |
intron |
probably benign |
|
R5931:Dnaaf9
|
UTSW |
2 |
130,656,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R6145:Dnaaf9
|
UTSW |
2 |
130,620,393 (GRCm39) |
missense |
probably benign |
|
R6732:Dnaaf9
|
UTSW |
2 |
130,652,740 (GRCm39) |
critical splice donor site |
probably null |
|
R6938:Dnaaf9
|
UTSW |
2 |
130,617,673 (GRCm39) |
missense |
probably benign |
0.00 |
R7161:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7193:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7194:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7233:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7234:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7238:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7239:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7268:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7807:Dnaaf9
|
UTSW |
2 |
130,552,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R7904:Dnaaf9
|
UTSW |
2 |
130,633,923 (GRCm39) |
splice site |
probably null |
|
R7999:Dnaaf9
|
UTSW |
2 |
130,579,372 (GRCm39) |
missense |
probably benign |
0.00 |
R8047:Dnaaf9
|
UTSW |
2 |
130,617,019 (GRCm39) |
missense |
probably damaging |
0.98 |
R8286:Dnaaf9
|
UTSW |
2 |
130,559,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8315:Dnaaf9
|
UTSW |
2 |
130,612,655 (GRCm39) |
small deletion |
probably benign |
|
R8439:Dnaaf9
|
UTSW |
2 |
130,612,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R8925:Dnaaf9
|
UTSW |
2 |
130,579,300 (GRCm39) |
nonsense |
probably null |
|
R8927:Dnaaf9
|
UTSW |
2 |
130,579,300 (GRCm39) |
nonsense |
probably null |
|
R9070:Dnaaf9
|
UTSW |
2 |
130,654,793 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9367:Dnaaf9
|
UTSW |
2 |
130,581,380 (GRCm39) |
missense |
probably benign |
0.00 |
R9558:Dnaaf9
|
UTSW |
2 |
130,617,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9565:Dnaaf9
|
UTSW |
2 |
130,648,711 (GRCm39) |
missense |
unknown |
|
R9758:Dnaaf9
|
UTSW |
2 |
130,554,938 (GRCm39) |
missense |
probably damaging |
0.99 |
RF027:Dnaaf9
|
UTSW |
2 |
130,612,664 (GRCm39) |
small insertion |
probably benign |
|
RF038:Dnaaf9
|
UTSW |
2 |
130,612,664 (GRCm39) |
nonsense |
probably null |
|
RF046:Dnaaf9
|
UTSW |
2 |
130,612,654 (GRCm39) |
nonsense |
probably null |
|
RF048:Dnaaf9
|
UTSW |
2 |
130,612,654 (GRCm39) |
nonsense |
probably null |
|
Z1177:Dnaaf9
|
UTSW |
2 |
130,552,787 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGGTGACTCTTAAGAAGCCTAC -3'
(R):5'- GGTAGTCACCTGCCACATAC -3'
Sequencing Primer
(F):5'- CACATGGTGCTCGAATATCCAGG -3'
(R):5'- GTAGTCACCTGCCACATACACTTAC -3'
|
Posted On |
2016-12-15 |