Incidental Mutation 'IGL01548:Dnaaf9'
| ID |
93215 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01548
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130656179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 110
(N110D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000110243]
[ENSMUST00000119422]
[ENSMUST00000120316]
[ENSMUST00000138990]
[ENSMUST00000146975]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044766
AA Change: N110D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: N110D
| 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: ENSMUST00000110243
AA Change: N110D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105872
Gene: ENSMUSG00000027309
AA Change: N110D
| 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 |
noncoding transcript
Transcript: ENSMUST00000123049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146975
|
| Coding Region Coverage |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
C |
T |
12: 84,103,863 (GRCm39) |
T224I |
probably benign |
Het |
| Adamts18 |
C |
T |
8: 114,490,931 (GRCm39) |
G512E |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,679 (GRCm39) |
I181T |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,346 (GRCm39) |
I230V |
probably benign |
Het |
| Cenpj |
C |
A |
14: 56,769,776 (GRCm39) |
V1138L |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,958,564 (GRCm39) |
|
probably benign |
Het |
| Clec2j |
T |
A |
6: 128,632,941 (GRCm39) |
|
noncoding transcript |
Het |
| Col5a3 |
T |
C |
9: 20,714,296 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,750,183 (GRCm39) |
T105S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,338,660 (GRCm39) |
Y482* |
probably null |
Het |
| Ctrl |
C |
A |
8: 106,659,890 (GRCm39) |
|
probably benign |
Het |
| Dhcr24 |
T |
A |
4: 106,431,068 (GRCm39) |
C252* |
probably null |
Het |
| Dnah17 |
G |
A |
11: 117,989,438 (GRCm39) |
P1261S |
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,643,768 (GRCm39) |
L466P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,071,922 (GRCm39) |
F3036Y |
probably damaging |
Het |
| Eef1akmt2 |
A |
C |
7: 132,433,134 (GRCm39) |
S191A |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,063,406 (GRCm39) |
C4454Y |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,941,907 (GRCm39) |
S267P |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,678,834 (GRCm39) |
C219R |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,850 (GRCm39) |
Q207L |
probably damaging |
Het |
| Gm19668 |
A |
T |
10: 77,634,242 (GRCm39) |
C242* |
probably null |
Het |
| Gm2840 |
G |
A |
5: 96,322,136 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1p1 |
G |
A |
X: 3,078,226 (GRCm39) |
G423S |
probably benign |
Het |
| Golim4 |
C |
T |
3: 75,815,432 (GRCm39) |
|
probably null |
Het |
| Gucy1b1 |
G |
T |
3: 81,942,169 (GRCm39) |
T530K |
probably damaging |
Het |
| Hacl1 |
A |
T |
14: 31,362,553 (GRCm39) |
D31E |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,502,723 (GRCm39) |
T4276A |
possibly damaging |
Het |
| Henmt1 |
T |
C |
3: 108,850,095 (GRCm39) |
I26T |
probably damaging |
Het |
| Hspa1l |
G |
A |
17: 35,197,367 (GRCm39) |
A469T |
probably damaging |
Het |
| Htra3 |
T |
A |
5: 35,821,420 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Mfhas1 |
T |
C |
8: 36,057,613 (GRCm39) |
L696P |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,234,252 (GRCm39) |
K808E |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,496 (GRCm39) |
Y188H |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,408,215 (GRCm39) |
|
probably benign |
Het |
| Naca |
A |
T |
10: 127,876,773 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,371,147 (GRCm39) |
V213D |
probably benign |
Het |
| Ndufa6 |
C |
T |
15: 82,238,282 (GRCm39) |
V50M |
possibly damaging |
Het |
| Or4c35 |
T |
A |
2: 89,808,883 (GRCm39) |
F254I |
possibly damaging |
Het |
| Or5b111 |
A |
G |
19: 13,291,350 (GRCm39) |
F100L |
possibly damaging |
Het |
| Or5g23 |
A |
G |
2: 85,439,105 (GRCm39) |
W50R |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,646 (GRCm39) |
T220A |
probably benign |
Het |
| Or8k53 |
T |
A |
2: 86,178,077 (GRCm39) |
Y11F |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,896,632 (GRCm39) |
Y311C |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,468,562 (GRCm39) |
Y204S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,808,407 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,073,458 (GRCm39) |
R519G |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,534,261 (GRCm39) |
Y375N |
probably benign |
Het |
| Prss35 |
C |
A |
9: 86,637,327 (GRCm39) |
S32R |
probably benign |
Het |
| Prss57 |
C |
T |
10: 79,621,581 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
A |
C |
1: 138,027,219 (GRCm39) |
|
probably null |
Het |
| Rims1 |
A |
G |
1: 22,577,683 (GRCm39) |
C188R |
probably damaging |
Het |
| Ripk4 |
G |
T |
16: 97,552,696 (GRCm39) |
Y144* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,363,728 (GRCm39) |
|
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,691 (GRCm39) |
V378A |
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,542,589 (GRCm39) |
K298E |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,071,520 (GRCm39) |
F1237L |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,938,238 (GRCm39) |
I227T |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,782,607 (GRCm39) |
I1041F |
possibly damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,854,414 (GRCm39) |
T91A |
probably benign |
Het |
| Spata31f3 |
T |
C |
4: 42,868,564 (GRCm39) |
E353G |
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,410,262 (GRCm39) |
M818T |
probably benign |
Het |
| Tas2r119 |
T |
A |
15: 32,178,123 (GRCm39) |
F230I |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,420,385 (GRCm39) |
D716G |
probably damaging |
Het |
| Tfg |
A |
G |
16: 56,521,465 (GRCm39) |
S58P |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,943 (GRCm39) |
I45V |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,088,955 (GRCm39) |
L96P |
probably damaging |
Het |
| Tmem260 |
A |
C |
14: 48,717,782 (GRCm39) |
S276R |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,600,643 (GRCm39) |
S24P |
probably damaging |
Het |
| Vcam1 |
T |
C |
3: 115,909,600 (GRCm39) |
I576V |
probably benign |
Het |
| Vmn1r27 |
G |
T |
6: 58,192,538 (GRCm39) |
N105K |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,240,893 (GRCm39) |
Y73* |
probably null |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,151 (GRCm39) |
I822V |
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,452,096 (GRCm39) |
V596I |
possibly damaging |
Het |
| Zfp946 |
A |
T |
17: 22,673,643 (GRCm39) |
K132N |
possibly 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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation