Incidental Mutation 'IGL02637:Dnaaf9'
ID |
301588 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnaaf9
|
Ensembl Gene |
ENSMUSG00000027309 |
Gene Name |
dynein axonemal assembly factor 9 |
Synonyms |
4930402H24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02637
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to A
at 130656227 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000110243]
[ENSMUST00000119422]
[ENSMUST00000120316]
[ENSMUST00000138990]
[ENSMUST00000146975]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044766
|
SMART Domains |
Protein: ENSMUSP00000046992 Gene: ENSMUSG00000027309
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 |
probably benign
Transcript: ENSMUST00000110243
|
SMART Domains |
Protein: ENSMUSP00000105872 Gene: ENSMUSG00000027309
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119422
|
SMART Domains |
Protein: ENSMUSP00000113481 Gene: ENSMUSG00000027309
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 |
probably benign
Transcript: ENSMUST00000120316
|
SMART Domains |
Protein: ENSMUSP00000112540 Gene: ENSMUSG00000027309
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138990
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142128
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148924
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146975
|
Coding Region Coverage |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,309,907 (GRCm39) |
Y435C |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,460,143 (GRCm39) |
|
probably benign |
Het |
Ampd1 |
T |
C |
3: 103,002,199 (GRCm39) |
|
probably benign |
Het |
Camk1g |
G |
A |
1: 193,030,696 (GRCm39) |
P338S |
probably benign |
Het |
Cog3 |
T |
C |
14: 75,959,636 (GRCm39) |
|
probably benign |
Het |
Crat |
A |
G |
2: 30,296,401 (GRCm39) |
V355A |
probably benign |
Het |
Ctla2a |
T |
A |
13: 61,083,899 (GRCm39) |
|
probably benign |
Het |
Efhb |
A |
G |
17: 53,756,580 (GRCm39) |
I357T |
probably benign |
Het |
Fh1 |
T |
C |
1: 175,437,332 (GRCm39) |
M256V |
probably benign |
Het |
Gabrg3 |
A |
G |
7: 56,384,775 (GRCm39) |
I262T |
probably damaging |
Het |
Gata2 |
C |
T |
6: 88,181,558 (GRCm39) |
|
probably benign |
Het |
Gm6356 |
A |
G |
14: 6,970,926 (GRCm38) |
V178A |
possibly damaging |
Het |
Hacl1 |
T |
C |
14: 31,362,458 (GRCm39) |
E63G |
probably damaging |
Het |
Hid1 |
A |
T |
11: 115,241,421 (GRCm39) |
I623N |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,452 (GRCm39) |
K1017E |
possibly damaging |
Het |
Ifi208 |
C |
T |
1: 173,506,508 (GRCm39) |
T97I |
probably benign |
Het |
Ighg1 |
T |
C |
12: 113,293,132 (GRCm39) |
H186R |
unknown |
Het |
Igkv8-26 |
T |
C |
6: 70,170,642 (GRCm39) |
S78P |
probably damaging |
Het |
Itih3 |
T |
C |
14: 30,637,617 (GRCm39) |
N514S |
probably benign |
Het |
Kcnj16 |
A |
T |
11: 110,916,439 (GRCm39) |
D367V |
probably benign |
Het |
Klhl23 |
A |
T |
2: 69,659,258 (GRCm39) |
R428* |
probably null |
Het |
Lgmn |
T |
C |
12: 102,366,485 (GRCm39) |
E216G |
probably damaging |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
C |
T |
19: 3,680,269 (GRCm39) |
G405D |
probably benign |
Het |
Lrrc74a |
C |
T |
12: 86,788,521 (GRCm39) |
R53* |
probably null |
Het |
Lsm12 |
G |
A |
11: 102,054,948 (GRCm39) |
R123C |
probably benign |
Het |
Marchf5 |
T |
A |
19: 37,198,033 (GRCm39) |
|
probably benign |
Het |
Mark3 |
C |
A |
12: 111,559,090 (GRCm39) |
A44D |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,685,003 (GRCm39) |
N522I |
possibly damaging |
Het |
Nbeal2 |
G |
T |
9: 110,455,045 (GRCm39) |
R2611S |
possibly damaging |
Het |
Nlrp4d |
T |
C |
7: 10,116,482 (GRCm39) |
|
noncoding transcript |
Het |
Npnt |
T |
A |
3: 132,590,271 (GRCm39) |
I507F |
possibly damaging |
Het |
Or51a7 |
G |
A |
7: 102,622,250 (GRCm39) |
|
probably benign |
Het |
Pde4a |
T |
A |
9: 21,112,628 (GRCm39) |
L91Q |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,385,720 (GRCm39) |
V1017M |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,427,720 (GRCm39) |
N3259S |
probably damaging |
Het |
Plxnb2 |
A |
T |
15: 89,048,260 (GRCm39) |
H683Q |
possibly damaging |
Het |
Reck |
T |
A |
4: 43,898,009 (GRCm39) |
S96T |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,089,704 (GRCm39) |
K347E |
probably benign |
Het |
Ro60 |
A |
G |
1: 143,646,526 (GRCm39) |
V73A |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,979,378 (GRCm39) |
D246G |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 142,080,327 (GRCm39) |
T1273I |
probably damaging |
Het |
Slc12a8 |
A |
T |
16: 33,355,330 (GRCm39) |
M49L |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,859,728 (GRCm39) |
|
probably null |
Het |
Surf2 |
A |
G |
2: 26,809,790 (GRCm39) |
K247E |
probably damaging |
Het |
Sys1 |
G |
A |
2: 164,303,312 (GRCm39) |
V9M |
possibly damaging |
Het |
Tcf4 |
G |
A |
18: 69,480,421 (GRCm39) |
D18N |
probably damaging |
Het |
Tmc6 |
A |
T |
11: 117,658,416 (GRCm39) |
V773D |
possibly damaging |
Het |
Trappc13 |
T |
C |
13: 104,286,570 (GRCm39) |
Q229R |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,984,099 (GRCm39) |
E481G |
probably benign |
Het |
Xpo5 |
C |
A |
17: 46,546,905 (GRCm39) |
D885E |
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 |
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 |
|
R5783:Dnaaf9
|
UTSW |
2 |
130,581,003 (GRCm39) |
missense |
possibly damaging |
0.59 |
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 |
|
Posted On |
2015-04-16 |