Incidental Mutation 'R1670:Dnaaf9'
ID |
187523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf9
|
Ensembl Gene |
ENSMUSG00000027309 |
Gene Name |
dynein axonemal assembly factor 9 |
Synonyms |
4930402H24Rik |
MMRRC Submission |
039706-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1670 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 130554299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 187
(P187S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044766
AA Change: P1048S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046992 Gene: ENSMUSG00000027309 AA Change: P1048S
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: P917S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113481 Gene: ENSMUSG00000027309 AA Change: P917S
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 damaging
Transcript: ENSMUST00000138758
AA Change: P187S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139684
|
Meta Mutation Damage Score |
0.3366 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
Validation Efficiency |
97% (74/76) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,540,448 (GRCm39) |
V1497A |
possibly damaging |
Het |
Adam15 |
T |
C |
3: 89,255,817 (GRCm39) |
|
probably benign |
Het |
Angel2 |
T |
A |
1: 190,674,360 (GRCm39) |
S371T |
probably benign |
Het |
Atr |
T |
A |
9: 95,743,509 (GRCm39) |
N49K |
probably benign |
Het |
Bace2 |
G |
A |
16: 97,213,335 (GRCm39) |
M228I |
probably damaging |
Het |
Bdp1 |
A |
C |
13: 100,163,941 (GRCm39) |
|
probably null |
Het |
Calr |
A |
T |
8: 85,570,748 (GRCm39) |
D302E |
probably benign |
Het |
Camta1 |
T |
C |
4: 151,164,228 (GRCm39) |
D340G |
probably benign |
Het |
Car11 |
C |
T |
7: 45,352,949 (GRCm39) |
T236I |
possibly damaging |
Het |
Cfap69 |
A |
T |
5: 5,636,409 (GRCm39) |
S275T |
probably benign |
Het |
Cib2 |
G |
A |
9: 54,455,653 (GRCm39) |
R104W |
probably damaging |
Het |
CN725425 |
T |
C |
15: 91,130,018 (GRCm39) |
S294P |
possibly damaging |
Het |
Coro7 |
G |
A |
16: 4,446,097 (GRCm39) |
S876F |
possibly damaging |
Het |
Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
Dennd6b |
C |
A |
15: 89,069,540 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,914,341 (GRCm39) |
Y979N |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,944,098 (GRCm39) |
I1772F |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 6,993,942 (GRCm39) |
I3976N |
possibly damaging |
Het |
Ebi3 |
T |
C |
17: 56,261,479 (GRCm39) |
I125T |
probably damaging |
Het |
Elfn2 |
C |
T |
15: 78,556,568 (GRCm39) |
A660T |
probably benign |
Het |
F12 |
C |
T |
13: 55,569,346 (GRCm39) |
C209Y |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgfr2 |
T |
A |
7: 129,782,187 (GRCm39) |
D413V |
probably damaging |
Het |
Gdf10 |
T |
A |
14: 33,654,000 (GRCm39) |
I169N |
possibly damaging |
Het |
Gdnf |
T |
C |
15: 7,845,130 (GRCm39) |
V41A |
probably benign |
Het |
Gm9857 |
A |
T |
3: 108,847,478 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
A |
G |
17: 79,146,529 (GRCm39) |
E58G |
possibly damaging |
Het |
Gpr55 |
A |
G |
1: 85,869,137 (GRCm39) |
V148A |
possibly damaging |
Het |
Gucy1b1 |
A |
G |
3: 81,952,767 (GRCm39) |
I222T |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,404,496 (GRCm39) |
S227P |
probably damaging |
Het |
Hsfy2 |
A |
G |
1: 56,675,548 (GRCm39) |
S330P |
possibly damaging |
Het |
Hycc1 |
T |
A |
5: 24,204,989 (GRCm39) |
M1L |
possibly damaging |
Het |
Ift122 |
T |
C |
6: 115,900,844 (GRCm39) |
V1054A |
probably benign |
Het |
Il27 |
T |
A |
7: 126,188,647 (GRCm39) |
E175D |
probably benign |
Het |
Lactb2 |
A |
T |
1: 13,730,641 (GRCm39) |
S12T |
probably damaging |
Het |
Lrfn2 |
T |
C |
17: 49,403,605 (GRCm39) |
V576A |
probably benign |
Het |
Mansc4 |
C |
G |
6: 146,976,689 (GRCm39) |
R309T |
possibly damaging |
Het |
Med12l |
AACAGCA |
AACAGCAACAGCA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
Mrpl16 |
C |
T |
19: 11,751,959 (GRCm39) |
R240* |
probably null |
Het |
Muc17 |
A |
G |
5: 137,172,843 (GRCm39) |
V70A |
probably benign |
Het |
Ndnf |
A |
G |
6: 65,680,054 (GRCm39) |
D111G |
probably benign |
Het |
Nek4 |
T |
C |
14: 30,704,384 (GRCm39) |
F688S |
probably damaging |
Het |
Nkx2-6 |
T |
A |
14: 69,412,126 (GRCm39) |
M98K |
probably benign |
Het |
Nup188 |
T |
C |
2: 30,230,667 (GRCm39) |
S1402P |
probably benign |
Het |
Or10j2 |
T |
A |
1: 173,098,467 (GRCm39) |
S242T |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,237 (GRCm39) |
S192T |
probably damaging |
Het |
Or4f14b |
C |
T |
2: 111,775,264 (GRCm39) |
C179Y |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,609 (GRCm39) |
T161A |
possibly damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,607 (GRCm39) |
N88K |
probably benign |
Het |
Or5ac24 |
T |
C |
16: 59,165,790 (GRCm39) |
I91M |
possibly damaging |
Het |
Or5m9b |
T |
A |
2: 85,905,594 (GRCm39) |
V170D |
probably benign |
Het |
Parp10 |
A |
T |
15: 76,126,270 (GRCm39) |
V306E |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,723,343 (GRCm39) |
L1284P |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,103,389 (GRCm39) |
I365F |
probably benign |
Het |
Pnisr |
A |
G |
4: 21,865,893 (GRCm39) |
D294G |
probably damaging |
Het |
Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
Ptprn2 |
A |
C |
12: 116,685,792 (GRCm39) |
T84P |
possibly damaging |
Het |
Rln1 |
C |
T |
19: 29,309,468 (GRCm39) |
E104K |
possibly damaging |
Het |
Rnf38 |
A |
G |
4: 44,138,681 (GRCm39) |
S271P |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,368,660 (GRCm39) |
T398A |
probably benign |
Het |
Rprd2 |
G |
T |
3: 95,672,115 (GRCm39) |
T1096K |
probably damaging |
Het |
Sema3e |
C |
T |
5: 14,212,199 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
A |
15: 32,548,945 (GRCm39) |
C140S |
probably damaging |
Het |
Shpk |
A |
C |
11: 73,113,757 (GRCm39) |
D390A |
probably benign |
Het |
Slc22a20 |
C |
T |
19: 6,022,876 (GRCm39) |
|
probably benign |
Het |
Steap2 |
A |
G |
5: 5,727,393 (GRCm39) |
V314A |
possibly damaging |
Het |
Stxbp5l |
A |
G |
16: 37,111,289 (GRCm39) |
|
probably null |
Het |
Tgm3 |
G |
T |
2: 129,883,688 (GRCm39) |
E449* |
probably null |
Het |
Tmem68 |
A |
C |
4: 3,560,627 (GRCm39) |
L186V |
probably damaging |
Het |
Ttc41 |
T |
A |
10: 86,612,116 (GRCm39) |
W1130R |
possibly damaging |
Het |
Ttpal |
T |
C |
2: 163,457,286 (GRCm39) |
F253L |
possibly damaging |
Het |
Vmn2r99 |
G |
T |
17: 19,582,514 (GRCm39) |
V40F |
probably benign |
Het |
Xkr9 |
G |
A |
1: 13,771,167 (GRCm39) |
V228M |
probably damaging |
Het |
Zc3h7b |
C |
T |
15: 81,661,268 (GRCm39) |
A369V |
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 |
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 |
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'- TGGTCATACTCAGGCTCAGCAGTG -3'
(R):5'- TAGGGAATGGTCCAGCTTCTCCTC -3'
Sequencing Primer
(F):5'- ACACAAGGTAGCATTCTGGC -3'
(R):5'- CTAGGTAACAGTGTGTCTGACCAC -3'
|
Posted On |
2014-05-09 |