Incidental Mutation 'R0379:Dnaaf9'
| ID |
30846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
038585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 130627466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000123049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148924
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
98% (79/81) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
G |
11: 11,539,365 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
C |
19: 23,912,194 (GRCm39) |
N558T |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,702,320 (GRCm39) |
|
probably null |
Het |
| Arsb |
T |
C |
13: 94,077,135 (GRCm39) |
S501P |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,145,141 (GRCm39) |
T1295A |
probably benign |
Het |
| Atp8b5 |
G |
T |
4: 43,361,898 (GRCm39) |
R648L |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,789 (GRCm39) |
I126T |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,090,802 (GRCm39) |
|
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,283,430 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,467,778 (GRCm39) |
K1692R |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,791 (GRCm39) |
T13A |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Clec4g |
A |
G |
8: 3,768,440 (GRCm39) |
V97A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,229,897 (GRCm39) |
R1483K |
possibly damaging |
Het |
| Crem |
A |
T |
18: 3,299,226 (GRCm39) |
V82D |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 77,618,423 (GRCm39) |
T180S |
probably benign |
Het |
| Cybrd1 |
T |
C |
2: 70,960,099 (GRCm39) |
I99T |
probably benign |
Het |
| Cyp4a32 |
G |
A |
4: 115,478,671 (GRCm39) |
V468M |
probably damaging |
Het |
| Dlk1 |
A |
G |
12: 109,420,985 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,179,336 (GRCm39) |
Y1003F |
probably benign |
Het |
| Egfem1 |
A |
C |
3: 29,722,399 (GRCm39) |
E376A |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,812,165 (GRCm39) |
I1416K |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,386,106 (GRCm39) |
T238A |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,420,187 (GRCm39) |
I33M |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,794,049 (GRCm39) |
S830P |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,903,368 (GRCm39) |
R3082* |
probably null |
Het |
| Galnt13 |
T |
C |
2: 54,950,504 (GRCm39) |
V395A |
possibly damaging |
Het |
| Gpd2 |
C |
T |
2: 57,235,275 (GRCm39) |
T335I |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,235,759 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
G |
T |
19: 8,874,497 (GRCm39) |
V819L |
possibly damaging |
Het |
| Klhdc10 |
C |
G |
6: 30,450,669 (GRCm39) |
Q292E |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,149,566 (GRCm39) |
A67T |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,430,838 (GRCm39) |
T404P |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,470 (GRCm39) |
S249P |
probably benign |
Het |
| Mcm10 |
T |
A |
2: 5,013,434 (GRCm39) |
K66M |
probably benign |
Het |
| Mtmr7 |
C |
A |
8: 41,004,642 (GRCm39) |
D645Y |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,216,868 (GRCm39) |
I2602F |
possibly damaging |
Het |
| Myh13 |
G |
A |
11: 67,260,121 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,741,632 (GRCm39) |
V1776I |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,406,695 (GRCm39) |
L957S |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,896,422 (GRCm39) |
S442P |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,079 (GRCm39) |
E2K |
probably benign |
Het |
| Or6x1 |
G |
A |
9: 40,098,729 (GRCm39) |
G106D |
probably damaging |
Het |
| Or7g32 |
T |
A |
9: 19,388,776 (GRCm39) |
T257S |
possibly damaging |
Het |
| Pdcd6 |
G |
T |
13: 74,457,831 (GRCm39) |
N113K |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,856,810 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,024,195 (GRCm39) |
H401R |
probably benign |
Het |
| Phldb2 |
C |
A |
16: 45,601,814 (GRCm39) |
D754Y |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,902,195 (GRCm39) |
M49K |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,573,445 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,077 (GRCm39) |
N64S |
probably benign |
Het |
| Prss3l |
T |
G |
6: 41,422,190 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,864,583 (GRCm39) |
S393P |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,315,973 (GRCm39) |
T15I |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,329,697 (GRCm39) |
L143S |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpinf1 |
T |
G |
11: 75,304,771 (GRCm39) |
I197L |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,916,445 (GRCm39) |
|
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,787,925 (GRCm39) |
V271I |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,853,048 (GRCm39) |
D34G |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,059,161 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,233,211 (GRCm39) |
I51T |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,491,989 (GRCm39) |
R9Q |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,997,344 (GRCm39) |
H470L |
probably damaging |
Het |
| Ttc41 |
T |
A |
10: 86,548,841 (GRCm39) |
Y12N |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,612,105 (GRCm39) |
E69G |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,691,116 (GRCm39) |
T474M |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,019,201 (GRCm39) |
N777K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,184,016 (GRCm39) |
L1440P |
probably damaging |
Het |
| Usp28 |
A |
C |
9: 48,935,367 (GRCm39) |
D458A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,851,665 (GRCm39) |
D1098E |
probably damaging |
Het |
| Vmn1r73 |
C |
T |
7: 11,490,773 (GRCm39) |
T197I |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,344 (GRCm39) |
S787G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,948,401 (GRCm39) |
I549N |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
| Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
Het |
| Zfp974 |
T |
A |
7: 27,610,357 (GRCm39) |
N456I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGTTGCAAGTCCTCAGCC -3'
(R):5'- AGCATCACTTGTCTACGTGTGCTC -3'
Sequencing Primer
(F):5'- TTTTCACAGAGCAGCTAGGC -3'
(R):5'- CTACGTGTGCTCCGTTTTAAGAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation