Incidental Mutation 'R7807:Dnaaf9'
ID |
600842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf9
|
Ensembl Gene |
ENSMUSG00000027309 |
Gene Name |
dynein axonemal assembly factor 9 |
Synonyms |
4930402H24Rik |
MMRRC Submission |
045862-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7807 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130552785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1092
(K1092E)
|
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: K1092E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046992 Gene: ENSMUSG00000027309 AA Change: K1092E
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: K961E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113481 Gene: ENSMUSG00000027309 AA Change: K961E
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: ENSMUST00000138758
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139684
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (68/68) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
C |
A |
9: 21,447,276 (GRCm39) |
T146K |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,599,958 (GRCm39) |
S1595T |
possibly damaging |
Het |
Ankrd44 |
A |
T |
1: 54,831,635 (GRCm39) |
I56N |
probably damaging |
Het |
Anln |
C |
A |
9: 22,272,176 (GRCm39) |
V648F |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,807,981 (GRCm39) |
D1053G |
probably benign |
Het |
Baalc |
T |
C |
15: 38,797,412 (GRCm39) |
S68P |
probably benign |
Het |
Begain |
T |
C |
12: 109,004,856 (GRCm39) |
D52G |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,837,040 (GRCm39) |
I41V |
probably benign |
Het |
Bpifc |
T |
A |
10: 85,812,114 (GRCm39) |
I365F |
possibly damaging |
Het |
C2 |
G |
T |
17: 35,095,347 (GRCm39) |
S199R |
possibly damaging |
Het |
Ccbe1 |
T |
A |
18: 66,199,828 (GRCm39) |
H298L |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,423,826 (GRCm39) |
K304I |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,226,678 (GRCm39) |
E432G |
probably benign |
Het |
Cdh13 |
T |
A |
8: 119,010,594 (GRCm39) |
M1K |
probably null |
Het |
Cipc |
T |
C |
12: 87,008,899 (GRCm39) |
S253P |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,287,282 (GRCm39) |
|
probably null |
Het |
Clock |
A |
T |
5: 76,390,982 (GRCm39) |
N273K |
probably benign |
Het |
Cyp19a1 |
T |
C |
9: 54,074,126 (GRCm39) |
D476G |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,253,527 (GRCm39) |
I1811V |
probably benign |
Het |
Fat1 |
C |
A |
8: 45,495,010 (GRCm39) |
T4091K |
probably damaging |
Het |
Gm10340 |
T |
A |
14: 14,826,724 (GRCm39) |
N64K |
probably damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,171 (GRCm39) |
R2523C |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,782,009 (GRCm39) |
H244R |
probably damaging |
Het |
Hgs |
G |
T |
11: 120,370,760 (GRCm39) |
A567S |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,041,077 (GRCm39) |
V1036A |
probably benign |
Het |
Keg1 |
G |
A |
19: 12,691,998 (GRCm39) |
|
probably null |
Het |
Klhl8 |
A |
T |
5: 104,023,932 (GRCm39) |
L156Q |
probably damaging |
Het |
Lmln |
T |
C |
16: 32,927,501 (GRCm39) |
Y521H |
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,866,124 (GRCm39) |
S1206P |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,074,541 (GRCm39) |
I550F |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,971,753 (GRCm39) |
W28* |
probably null |
Het |
Mfsd11 |
T |
G |
11: 116,754,733 (GRCm39) |
S215A |
probably benign |
Het |
Mpped2 |
C |
A |
2: 106,575,085 (GRCm39) |
H57N |
possibly damaging |
Het |
Mslnl |
A |
G |
17: 25,965,751 (GRCm39) |
M542V |
probably benign |
Het |
Myh6 |
G |
T |
14: 55,179,897 (GRCm39) |
H1903Q |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,897,777 (GRCm39) |
T60A |
probably benign |
Het |
Npm2 |
T |
A |
14: 70,889,947 (GRCm39) |
|
probably null |
Het |
Or5b123 |
C |
A |
19: 13,597,285 (GRCm39) |
T210K |
probably damaging |
Het |
Or5d20-ps1 |
T |
C |
2: 87,931,909 (GRCm39) |
S141G |
probably benign |
Het |
Or7a39 |
T |
A |
10: 78,715,043 (GRCm39) |
S12R |
probably benign |
Het |
Pax9 |
A |
T |
12: 56,743,850 (GRCm39) |
I166F |
possibly damaging |
Het |
Pcsk9 |
A |
G |
4: 106,321,092 (GRCm39) |
S6P |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,309,101 (GRCm39) |
Y1893C |
probably damaging |
Het |
Pirb |
T |
C |
7: 3,722,864 (GRCm39) |
T43A |
possibly damaging |
Het |
Pou3f1 |
A |
G |
4: 124,552,074 (GRCm39) |
D192G |
possibly damaging |
Het |
Pus3 |
C |
G |
9: 35,478,021 (GRCm39) |
R418G |
probably damaging |
Het |
Rexo1 |
C |
T |
10: 80,385,970 (GRCm39) |
V363I |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,393,688 (GRCm39) |
T269A |
probably damaging |
Het |
Sele |
T |
C |
1: 163,881,462 (GRCm39) |
V523A |
probably benign |
Het |
Serpinb8 |
T |
A |
1: 107,532,457 (GRCm39) |
M183K |
probably damaging |
Het |
Sh2d4a |
T |
G |
8: 68,735,033 (GRCm39) |
S51A |
probably benign |
Het |
Siglec15 |
A |
G |
18: 78,090,696 (GRCm39) |
S201P |
probably damaging |
Het |
Slc10a5 |
C |
T |
3: 10,400,529 (GRCm39) |
V44I |
probably benign |
Het |
Slc16a13 |
A |
G |
11: 70,111,388 (GRCm39) |
V39A |
probably damaging |
Het |
Slc25a13 |
G |
A |
6: 6,117,164 (GRCm39) |
R184W |
probably damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,278 (GRCm39) |
D359E |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,371,371 (GRCm39) |
E641G |
probably benign |
Het |
Slf1 |
T |
C |
13: 77,194,823 (GRCm39) |
D834G |
probably damaging |
Het |
Spata31f1e |
A |
C |
4: 42,793,885 (GRCm39) |
H82Q |
probably benign |
Het |
Stim1 |
T |
C |
7: 102,076,348 (GRCm39) |
I433T |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,057,444 (GRCm39) |
I418K |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,758,480 (GRCm39) |
N747S |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,192,302 (GRCm39) |
T711A |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,807,220 (GRCm39) |
I988T |
probably benign |
Het |
Ttc41 |
T |
A |
10: 86,612,495 (GRCm39) |
I1256N |
probably benign |
Het |
Uba2 |
T |
C |
7: 33,862,638 (GRCm39) |
D100G |
possibly damaging |
Het |
Vmn1r43 |
A |
G |
6: 89,847,219 (GRCm39) |
I89T |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,521,910 (GRCm39) |
Y62F |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,060,855 (GRCm39) |
Q428* |
probably null |
Het |
Zcrb1 |
T |
C |
15: 93,289,002 (GRCm39) |
D88G |
probably damaging |
Het |
Zmym1 |
A |
C |
4: 126,941,667 (GRCm39) |
I907S |
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 |
|
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 |
|
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'- CCTGAAGCTACAAGGTTAGGCTC -3'
(R):5'- TTTCCTCAGGAACAGAAAAGCC -3'
Sequencing Primer
(F):5'- AAGGTTAGGCTCCTTGACCAC -3'
(R):5'- GCCAAATAGCATGTCCATGAG -3'
|
Posted On |
2019-11-26 |