Incidental Mutation 'R7194:Dnaaf9'
| ID |
559765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
045335-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 130648708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 258
(R258L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000110243]
[ENSMUST00000119422]
[ENSMUST00000120316]
[ENSMUST00000138990]
|
| 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 |
unknown
Transcript: ENSMUST00000110243
AA Change: R258L
|
| SMART Domains |
Protein: ENSMUSP00000105872
Gene: ENSMUSG00000027309
AA Change: R258L
| 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 |
probably benign
Transcript: ENSMUST00000138990
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
| Abi3bp |
C |
T |
16: 56,382,734 (GRCm39) |
R115C |
probably damaging |
Het |
| Adam18 |
A |
G |
8: 25,141,868 (GRCm39) |
S234P |
possibly damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,449 (GRCm39) |
R520G |
probably benign |
Het |
| Angel2 |
C |
G |
1: 190,677,194 (GRCm39) |
T514R |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
| Ankrd7 |
A |
T |
6: 18,879,342 (GRCm39) |
Y262F |
probably benign |
Het |
| Ano8 |
C |
A |
8: 71,935,007 (GRCm39) |
L398F |
possibly damaging |
Het |
| App |
C |
T |
16: 84,822,319 (GRCm39) |
V356I |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,108,194 (GRCm39) |
E636* |
probably null |
Het |
| Cckbr |
G |
A |
7: 105,084,552 (GRCm39) |
E429K |
possibly damaging |
Het |
| Cfi |
T |
G |
3: 129,648,708 (GRCm39) |
S197R |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,263,162 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
C |
A |
1: 45,370,860 (GRCm39) |
A405D |
unknown |
Het |
| Colec12 |
A |
T |
18: 9,848,248 (GRCm39) |
N142I |
probably benign |
Het |
| Copa |
T |
C |
1: 171,947,511 (GRCm39) |
L1109P |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,152,152 (GRCm39) |
M75L |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,969 (GRCm39) |
Y204C |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,613 (GRCm39) |
T80A |
probably benign |
Het |
| Dppa5a |
C |
T |
9: 78,275,002 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
T |
3: 38,943,033 (GRCm39) |
S642I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,038,044 (GRCm39) |
C3899S |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,482 (GRCm39) |
V1869A |
probably damaging |
Het |
| Gm10308 |
A |
T |
17: 91,396,389 (GRCm39) |
I104L |
unknown |
Het |
| Gpr139 |
C |
T |
7: 118,743,896 (GRCm39) |
A230T |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,486 (GRCm39) |
N452S |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,551 (GRCm39) |
V73A |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,156,765 (GRCm39) |
F641L |
probably damaging |
Het |
| Ifi207 |
T |
G |
1: 173,557,490 (GRCm39) |
H416P |
possibly damaging |
Het |
| Igkv10-96 |
G |
T |
6: 68,609,028 (GRCm39) |
T89K |
possibly damaging |
Het |
| Kmt2d |
A |
C |
15: 98,741,714 (GRCm39) |
V4482G |
unknown |
Het |
| Krt28 |
T |
A |
11: 99,265,230 (GRCm39) |
K146* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,451,191 (GRCm39) |
N406S |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,686,477 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
T |
11: 97,564,394 (GRCm39) |
S370L |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,585,750 (GRCm39) |
L26S |
unknown |
Het |
| Mup12 |
T |
A |
4: 60,696,734 (GRCm39) |
E48V |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,102,183 (GRCm39) |
V825I |
probably benign |
Het |
| Nipal3 |
G |
A |
4: 135,201,732 (GRCm39) |
T152I |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 39,194,435 (GRCm39) |
M108K |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,141,756 (GRCm39) |
E429D |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,387 (GRCm39) |
V122I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,827,792 (GRCm39) |
W122R |
|
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,512 (GRCm39) |
C1616R |
probably damaging |
Het |
| Ppa2 |
T |
A |
3: 133,053,953 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
A |
7: 107,322,187 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
T |
C |
7: 126,385,653 (GRCm39) |
N229D |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,929,570 (GRCm39) |
F96L |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,241,094 (GRCm39) |
V742A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,312,591 (GRCm39) |
T1104A |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,557 (GRCm39) |
A644T |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,810,261 (GRCm39) |
T139S |
possibly damaging |
Het |
| Rfx5 |
T |
A |
3: 94,862,454 (GRCm39) |
I37N |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,683 (GRCm39) |
G374R |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,859,979 (GRCm39) |
I1034V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,447,538 (GRCm39) |
Y3195N |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,215,062 (GRCm39) |
I1243T |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,509,799 (GRCm39) |
C362S |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,276,640 (GRCm39) |
S130T |
probably damaging |
Het |
| Snrnp48 |
A |
C |
13: 38,393,875 (GRCm39) |
Y60S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,060,859 (GRCm39) |
E7260G |
probably damaging |
Het |
| Trbv15 |
C |
T |
6: 41,118,529 (GRCm39) |
T95I |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,771,943 (GRCm39) |
N68K |
probably benign |
Het |
| Ugcg |
A |
G |
4: 59,213,210 (GRCm39) |
Y132C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,304,672 (GRCm39) |
C2391S |
probably damaging |
Het |
| Vmn1r103 |
C |
A |
7: 20,244,438 (GRCm39) |
V8L |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,649 (GRCm39) |
N403I |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,827,551 (GRCm39) |
S1006P |
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 |
|
|
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 |
|
|
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'- TAGGACAAGTCTGGCACCTC -3'
(R):5'- CTCTGTGTCAGTTGCAGGAC -3'
Sequencing Primer
(F):5'- GGACAAGTCTGGCACCTCTCTTC -3'
(R):5'- GTCAGTTGCAGGACGTGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation