Incidental Mutation 'R4931:Dnaaf9'
ID |
380542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf9
|
Ensembl Gene |
ENSMUSG00000027309 |
Gene Name |
dynein axonemal assembly factor 9 |
Synonyms |
4930402H24Rik |
MMRRC Submission |
042532-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4931 (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 130583793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 496
(F496L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044766
AA Change: F627L
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046992 Gene: ENSMUSG00000027309 AA Change: F627L
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 |
possibly damaging
Transcript: ENSMUST00000119422
AA Change: F496L
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113481 Gene: ENSMUSG00000027309 AA Change: F496L
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: ENSMUST00000133132
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145851
AA Change: F169L
|
SMART Domains |
Protein: ENSMUSP00000118946 Gene: ENSMUSG00000027309 AA Change: F169L
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151673
|
Meta Mutation Damage Score |
0.0755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
95% (78/82) |
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 |
2410004B18Rik |
A |
G |
3: 145,643,875 (GRCm39) |
D21G |
probably benign |
Het |
4930562C15Rik |
T |
C |
16: 4,678,910 (GRCm39) |
L68P |
possibly damaging |
Het |
Ache |
A |
G |
5: 137,290,176 (GRCm39) |
I414V |
probably benign |
Het |
Acy1 |
G |
A |
9: 106,310,390 (GRCm39) |
H308Y |
probably damaging |
Het |
Aldh1b1 |
A |
C |
4: 45,803,661 (GRCm39) |
I400L |
probably benign |
Het |
Ankrd40 |
T |
A |
11: 94,225,647 (GRCm39) |
L226Q |
probably benign |
Het |
B3gnt9 |
T |
C |
8: 105,980,876 (GRCm39) |
T171A |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,977,134 (GRCm39) |
Y289C |
probably damaging |
Het |
Cd209f |
A |
T |
8: 4,153,688 (GRCm39) |
I187N |
probably damaging |
Het |
Cers6 |
T |
G |
2: 68,935,456 (GRCm39) |
S319A |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,665 (GRCm39) |
S364P |
probably benign |
Het |
Chrnb3 |
T |
C |
8: 27,884,258 (GRCm39) |
S317P |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,908,774 (GRCm39) |
V1129A |
probably benign |
Het |
Dhx9 |
G |
A |
1: 153,348,419 (GRCm39) |
P302L |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Duox2 |
T |
C |
2: 122,127,236 (GRCm39) |
N147S |
probably benign |
Het |
Dytn |
T |
G |
1: 63,672,837 (GRCm39) |
E522A |
probably benign |
Het |
E130114P18Rik |
T |
C |
4: 97,608,524 (GRCm39) |
D27G |
unknown |
Het |
Egf |
A |
G |
3: 129,505,117 (GRCm39) |
F118S |
probably damaging |
Het |
Eif2d |
T |
A |
1: 131,082,128 (GRCm39) |
F73L |
probably damaging |
Het |
Eps8l1 |
A |
G |
7: 4,474,240 (GRCm39) |
E237G |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,214,165 (GRCm39) |
E664G |
probably benign |
Het |
Fbrsl1 |
A |
T |
5: 110,526,895 (GRCm39) |
S373T |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,784,699 (GRCm39) |
F894Y |
probably benign |
Het |
Gpatch8 |
T |
C |
11: 102,372,050 (GRCm39) |
E496G |
unknown |
Het |
Gucy1a2 |
A |
G |
9: 3,759,588 (GRCm39) |
K465E |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,031,297 (GRCm39) |
T459A |
possibly damaging |
Het |
Itgad |
A |
T |
7: 127,803,797 (GRCm39) |
I64F |
probably damaging |
Het |
Itgb2l |
T |
A |
16: 96,238,649 (GRCm39) |
N50I |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,962,531 (GRCm39) |
I478T |
probably damaging |
Het |
Krt31 |
G |
A |
11: 99,940,983 (GRCm39) |
T109I |
probably benign |
Het |
Ltbr |
G |
T |
6: 125,284,437 (GRCm39) |
|
probably null |
Het |
Magel2 |
A |
G |
7: 62,030,372 (GRCm39) |
D1092G |
unknown |
Het |
Minar1 |
T |
C |
9: 89,483,705 (GRCm39) |
H564R |
probably benign |
Het |
Mindy3 |
A |
T |
2: 12,401,024 (GRCm39) |
N231K |
probably damaging |
Het |
Mpnd |
T |
G |
17: 56,319,362 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
C |
T |
5: 148,014,226 (GRCm39) |
L340F |
probably benign |
Het |
Nanog |
G |
A |
6: 122,684,865 (GRCm39) |
A17T |
possibly damaging |
Het |
Ndufa9 |
G |
T |
6: 126,813,283 (GRCm39) |
A181E |
probably damaging |
Het |
Or52z14 |
T |
G |
7: 103,253,581 (GRCm39) |
L240R |
probably benign |
Het |
Or7e175 |
A |
T |
9: 20,048,858 (GRCm39) |
I149F |
probably benign |
Het |
Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
Pramel18 |
T |
C |
4: 101,766,367 (GRCm39) |
V17A |
possibly damaging |
Het |
Prkacb |
T |
C |
3: 146,453,732 (GRCm39) |
I211V |
possibly damaging |
Het |
Ptpn14 |
C |
G |
1: 189,583,474 (GRCm39) |
L774V |
probably benign |
Het |
Rad1 |
T |
C |
15: 10,492,848 (GRCm39) |
|
probably benign |
Het |
Rims1 |
G |
T |
1: 22,573,028 (GRCm39) |
P391Q |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Sf3b3 |
C |
T |
8: 111,542,961 (GRCm39) |
R832Q |
probably benign |
Het |
Slc12a2 |
A |
G |
18: 58,068,035 (GRCm39) |
D975G |
possibly damaging |
Het |
Slitrk6 |
A |
G |
14: 110,987,811 (GRCm39) |
L632P |
probably damaging |
Het |
Spire2 |
A |
G |
8: 124,095,523 (GRCm39) |
D542G |
possibly damaging |
Het |
Sppl3 |
A |
T |
5: 115,220,373 (GRCm39) |
Q95L |
probably damaging |
Het |
Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
Tcl1 |
G |
T |
12: 105,188,872 (GRCm39) |
H14N |
probably damaging |
Het |
Ten1 |
T |
C |
11: 116,096,555 (GRCm39) |
F70L |
probably benign |
Het |
Tnfrsf13b |
A |
T |
11: 61,031,763 (GRCm39) |
T35S |
possibly damaging |
Het |
Tpcn2 |
G |
A |
7: 144,821,046 (GRCm39) |
P336L |
probably benign |
Het |
Trf |
C |
A |
9: 103,105,247 (GRCm39) |
D22Y |
probably damaging |
Het |
Ttyh1 |
A |
G |
7: 4,136,943 (GRCm39) |
|
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,032,031 (GRCm39) |
I602F |
probably benign |
Het |
Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,112,541 (GRCm39) |
Y227C |
probably damaging |
Het |
Zfp599 |
A |
T |
9: 22,169,419 (GRCm39) |
W18R |
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 |
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'- GATAATCCTCTGCTGGCCTT -3'
(R):5'- GTGGGAAAGCATGTCTGTTTCTAAA -3'
Sequencing Primer
(F):5'- GCTGGCCTTTTATCATCATTAGTTTG -3'
(R):5'- TTAACTACAACTGTGGAAACAACGG -3'
|
Posted On |
2016-04-15 |