Incidental Mutation 'R0811:Dnaaf9'
| ID |
78509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
038991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0811 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130555334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 858
(F858S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044766
AA Change: F989S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: F989S
| 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 damaging
Transcript: ENSMUST00000119422
AA Change: F858S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: F858S
| 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 |
unknown
Transcript: ENSMUST00000138758
AA Change: F128S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139684
|
| Meta Mutation Damage Score |
0.8829 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,763,229 (GRCm39) |
S586P |
probably damaging |
Het |
| Ap5z1 |
G |
A |
5: 142,461,546 (GRCm39) |
R583H |
probably benign |
Het |
| Arhgap28 |
TCAGCAGCAGCAGCAGCAGCAG |
TCAGCAGCAGCAGCAGCAG |
17: 68,208,294 (GRCm39) |
|
probably benign |
Het |
| Arrb1 |
G |
T |
7: 99,247,708 (GRCm39) |
V346L |
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,661,573 (GRCm39) |
F518I |
probably benign |
Het |
| Bank1 |
T |
A |
3: 135,799,127 (GRCm39) |
I405F |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,607,602 (GRCm39) |
L905P |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,860,465 (GRCm39) |
Y826H |
probably benign |
Het |
| Cenpo |
A |
G |
12: 4,266,643 (GRCm39) |
V155A |
probably benign |
Het |
| Cnmd |
A |
G |
14: 79,898,863 (GRCm39) |
F63S |
probably damaging |
Het |
| Cnn3 |
G |
A |
3: 121,248,600 (GRCm39) |
G72D |
probably damaging |
Het |
| Cox10 |
A |
G |
11: 63,962,539 (GRCm39) |
S101P |
probably benign |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,806 (GRCm39) |
V129A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,807 (GRCm39) |
S140T |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,532,820 (GRCm39) |
H317Y |
possibly damaging |
Het |
| Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
| Enox1 |
T |
A |
14: 77,819,876 (GRCm39) |
D210E |
probably damaging |
Het |
| Fam171a1 |
A |
G |
2: 3,198,464 (GRCm39) |
N190S |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,144,459 (GRCm39) |
K4138N |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,011,623 (GRCm39) |
D2241V |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,245,090 (GRCm39) |
V266I |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,900,857 (GRCm39) |
S3025R |
probably benign |
Het |
| Gba1 |
T |
C |
3: 89,111,307 (GRCm39) |
I24T |
probably benign |
Het |
| Gdpd5 |
A |
G |
7: 99,087,540 (GRCm39) |
D68G |
probably damaging |
Het |
| Grid1 |
G |
A |
14: 34,544,576 (GRCm39) |
S49N |
probably benign |
Het |
| Grtp1 |
T |
C |
8: 13,229,639 (GRCm39) |
T250A |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,945,295 (GRCm39) |
N448D |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,310,383 (GRCm39) |
A3326T |
probably damaging |
Het |
| Ippk |
C |
A |
13: 49,596,947 (GRCm39) |
Q254K |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 115,007,150 (GRCm39) |
L393I |
possibly damaging |
Het |
| Kcna10 |
A |
T |
3: 107,102,575 (GRCm39) |
E402V |
possibly damaging |
Het |
| Kcnab1 |
G |
A |
3: 65,205,141 (GRCm39) |
D119N |
probably damaging |
Het |
| Kcnip4 |
T |
A |
5: 48,567,202 (GRCm39) |
T122S |
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,350,086 (GRCm39) |
P1151L |
probably damaging |
Het |
| Klhl22 |
T |
A |
16: 17,610,453 (GRCm39) |
M568K |
probably benign |
Het |
| Krt6a |
C |
T |
15: 101,601,183 (GRCm39) |
V257M |
probably damaging |
Het |
| Ksr2 |
A |
C |
5: 117,693,290 (GRCm39) |
H246P |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,281,806 (GRCm39) |
D326G |
possibly damaging |
Het |
| Lcp1 |
A |
G |
14: 75,451,928 (GRCm39) |
E393G |
probably benign |
Het |
| Leo1 |
G |
A |
9: 75,352,831 (GRCm39) |
E125K |
probably benign |
Het |
| Lipt1 |
T |
A |
1: 37,914,382 (GRCm39) |
V146E |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,062,968 (GRCm39) |
|
probably null |
Het |
| Mga |
C |
T |
2: 119,778,442 (GRCm39) |
L1996F |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,569,387 (GRCm39) |
N913S |
probably damaging |
Het |
| Mphosph9 |
A |
C |
5: 124,436,822 (GRCm39) |
D507E |
probably damaging |
Het |
| Mvp |
G |
A |
7: 126,586,728 (GRCm39) |
A801V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,182,707 (GRCm39) |
D1053G |
possibly damaging |
Het |
| Nubp1 |
C |
A |
16: 10,231,585 (GRCm39) |
L79I |
probably benign |
Het |
| Or1e1f |
G |
A |
11: 73,856,246 (GRCm39) |
E271K |
probably benign |
Het |
| Or1o2 |
A |
C |
17: 37,543,223 (GRCm39) |
L13V |
probably benign |
Het |
| Or8d2 |
G |
A |
9: 38,759,805 (GRCm39) |
V132I |
probably benign |
Het |
| Pithd1 |
A |
G |
4: 135,704,445 (GRCm39) |
|
probably benign |
Het |
| Pnpla8 |
G |
A |
12: 44,330,188 (GRCm39) |
V29M |
probably benign |
Het |
| Psmb2 |
T |
A |
4: 126,601,350 (GRCm39) |
I151N |
possibly damaging |
Het |
| Ptgs2 |
C |
T |
1: 149,977,105 (GRCm39) |
T104I |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,345,077 (GRCm39) |
T28A |
probably benign |
Het |
| Raf1 |
A |
G |
6: 115,603,671 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,301,351 (GRCm39) |
M668T |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,641,760 (GRCm39) |
|
probably null |
Het |
| Rhag |
A |
T |
17: 41,142,469 (GRCm39) |
T225S |
possibly damaging |
Het |
| Rhof |
A |
C |
5: 123,269,950 (GRCm39) |
L69R |
probably damaging |
Het |
| Slc22a1 |
T |
C |
17: 12,885,505 (GRCm39) |
|
probably benign |
Het |
| Slc24a5 |
T |
C |
2: 124,910,724 (GRCm39) |
S52P |
probably damaging |
Het |
| Slc8a2 |
T |
C |
7: 15,875,039 (GRCm39) |
V429A |
probably damaging |
Het |
| Spam1 |
G |
A |
6: 24,796,886 (GRCm39) |
R279H |
probably damaging |
Het |
| Spata16 |
T |
A |
3: 26,967,487 (GRCm39) |
|
probably benign |
Het |
| Srfbp1 |
A |
G |
18: 52,620,588 (GRCm39) |
D102G |
probably damaging |
Het |
| Srrm3 |
A |
C |
5: 135,902,136 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,254,751 (GRCm39) |
|
probably benign |
Het |
| Tk1 |
T |
C |
11: 117,712,933 (GRCm39) |
E98G |
probably damaging |
Het |
| Trim13 |
G |
A |
14: 61,843,149 (GRCm39) |
V389I |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,383,366 (GRCm39) |
Y1289F |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,904 (GRCm39) |
V234D |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,814,575 (GRCm39) |
G306E |
probably benign |
Het |
| Vmn2r86 |
C |
T |
10: 130,289,497 (GRCm39) |
V133I |
probably benign |
Het |
| Vps13c |
C |
A |
9: 67,841,758 (GRCm39) |
Q1927K |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp219 |
T |
A |
14: 52,244,395 (GRCm39) |
T550S |
probably benign |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
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 |
|
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'- TTGAGAAAACACCGAGGACACTGAC -3'
(R):5'- GCTCATCCAAAGGGAGCAGCATAG -3'
Sequencing Primer
(F):5'- CCGAGGACACTGACTGAAATG -3'
(R):5'- GCAAAAGGGACTACAGCTTACTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation