Incidental Mutation 'R9758:Dnaaf9'
| ID |
732834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130554938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 998
(S998P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046992
(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: S998P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: S998P
| 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: S867P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: S867P
| 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 |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,879,799 (GRCm39) |
Y220C |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,896,655 (GRCm39) |
S73P |
possibly damaging |
Het |
| Bmper |
G |
A |
9: 23,286,902 (GRCm39) |
G276D |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,984,613 (GRCm39) |
M549K |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,606,283 (GRCm39) |
V319A |
possibly damaging |
Het |
| Cchcr1 |
G |
A |
17: 35,839,285 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
A |
T |
12: 111,265,783 (GRCm39) |
V1383E |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,770,433 (GRCm39) |
E1819G |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,869,054 (GRCm39) |
E163G |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,792 (GRCm39) |
R50* |
probably null |
Het |
| Cntn3 |
A |
G |
6: 102,183,511 (GRCm39) |
S715P |
probably damaging |
Het |
| Creb1 |
A |
T |
1: 64,598,909 (GRCm39) |
R95S |
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,492,710 (GRCm39) |
Y595C |
probably damaging |
Het |
| Cts7 |
C |
T |
13: 61,504,223 (GRCm39) |
E86K |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,440 (GRCm39) |
N113S |
unknown |
Het |
| Dhdds |
T |
C |
4: 133,727,706 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
C |
14: 30,985,395 (GRCm39) |
D3832G |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,182 (GRCm39) |
L344P |
probably damaging |
Het |
| Fam135b |
G |
A |
15: 71,324,199 (GRCm39) |
T1256I |
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,627 (GRCm39) |
D507E |
probably benign |
Het |
| Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,877,670 (GRCm39) |
W177R |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,961 (GRCm39) |
S288G |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,789,519 (GRCm39) |
H275R |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,206,366 (GRCm39) |
T17A |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,800,894 (GRCm39) |
Y433* |
probably null |
Het |
| Gm6408 |
C |
A |
5: 146,420,628 (GRCm39) |
D169E |
probably benign |
Het |
| Gramd2b |
T |
A |
18: 56,611,972 (GRCm39) |
V145E |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hcn1 |
GCA |
GCAACA |
13: 118,112,305 (GRCm39) |
|
probably benign |
Het |
| Hif1an |
G |
A |
19: 44,558,378 (GRCm39) |
V293M |
probably damaging |
Het |
| Hyal3 |
A |
G |
9: 107,462,347 (GRCm39) |
D127G |
probably damaging |
Het |
| Ighg1 |
T |
A |
12: 113,293,252 (GRCm39) |
D146V |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,216,347 (GRCm39) |
D362E |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,080,961 (GRCm39) |
E601K |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,620 (GRCm39) |
P662T |
possibly damaging |
Het |
| Krtap13-1 |
C |
T |
16: 88,526,229 (GRCm39) |
T151I |
probably benign |
Het |
| Ndufa10 |
A |
T |
1: 92,379,752 (GRCm39) |
I327N |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,082,439 (GRCm39) |
I53V |
possibly damaging |
Het |
| Or10z1 |
A |
G |
1: 174,077,902 (GRCm39) |
L197P |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,040 (GRCm39) |
V382A |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,685,876 (GRCm39) |
I1206F |
probably damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,918,331 (GRCm39) |
D386E |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,945,427 (GRCm39) |
F1460L |
probably damaging |
Het |
| Plcb2 |
A |
C |
2: 118,545,921 (GRCm39) |
M588R |
probably damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,893,260 (GRCm39) |
R216L |
possibly damaging |
Het |
| Psg28 |
G |
T |
7: 18,156,887 (GRCm39) |
Y449* |
probably null |
Het |
| Psg28 |
T |
A |
7: 18,164,602 (GRCm39) |
T37S |
probably benign |
Het |
| Psmd9 |
G |
T |
5: 123,372,745 (GRCm39) |
R76M |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,459,391 (GRCm39) |
D189G |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,397,666 (GRCm39) |
S363P |
probably benign |
Het |
| Sco1 |
T |
A |
11: 66,949,250 (GRCm39) |
D239E |
probably damaging |
Het |
| Sec24d |
C |
T |
3: 123,136,803 (GRCm39) |
T512M |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,046,442 (GRCm39) |
K441E |
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,959,322 (GRCm39) |
I338F |
probably damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,534,319 (GRCm39) |
I1161F |
probably damaging |
Het |
| Spmip11 |
T |
A |
15: 98,483,264 (GRCm39) |
L65I |
probably damaging |
Het |
| Tnfsf9 |
T |
A |
17: 57,414,355 (GRCm39) |
L261M |
probably damaging |
Het |
| Trim55 |
C |
T |
3: 19,699,498 (GRCm39) |
R77C |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,168,637 (GRCm39) |
I831T |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,081,438 (GRCm39) |
I60V |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,603,230 (GRCm39) |
N860S |
|
Het |
| Zfp54 |
T |
A |
17: 21,654,149 (GRCm39) |
N214K |
probably benign |
Het |
| Zfp707 |
T |
C |
15: 75,845,418 (GRCm39) |
I94T |
|
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 |
|
|
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 |
|
|
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'- TTCTTCAGAATATGGGAGCTGG -3'
(R):5'- ACACTTGGGTCACTCCATGG -3'
Sequencing Primer
(F):5'- TCTTCAGAATATGGGAGCTGGAGATG -3'
(R):5'- CACTTGGGTCACTCCATGGGAATAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation