Incidental Mutation 'IGL01678:Dnaaf10'
| ID |
103703 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnaaf10
|
| Ensembl Gene |
ENSMUSG00000078970 |
| Gene Name |
dynein axonemal assembly factor 10 |
| Synonyms |
Wdr92 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
IGL01678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
17161893-17185200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17182790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 317
(V317A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046955]
|
| AlphaFold |
Q8BGF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046955
AA Change: V317A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: V317A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
55 |
96 |
6.88e0 |
SMART |
|
WD40
|
100 |
145 |
5.15e-2 |
SMART |
|
Blast:WD40
|
149 |
196 |
8e-27 |
BLAST |
|
WD40
|
199 |
240 |
2.54e2 |
SMART |
|
WD40
|
246 |
288 |
2.06e0 |
SMART |
|
WD40
|
310 |
350 |
7.7e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151431
|
| 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 a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
| Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,481,803 (GRCm39) |
T180A |
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,523,677 (GRCm39) |
D513G |
possibly damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
| Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,537 (GRCm39) |
D173A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
| Sirpb1a |
G |
T |
3: 15,476,370 (GRCm39) |
S142R |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
| Top6bl |
T |
A |
19: 4,722,193 (GRCm39) |
I76L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
| Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,679,558 (GRCm39) |
|
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,392,064 (GRCm39) |
C7S |
probably damaging |
Het |
|
| Other mutations in Dnaaf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01801:Dnaaf10
|
APN |
11 |
17,169,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02573:Dnaaf10
|
APN |
11 |
17,162,136 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02985:Dnaaf10
|
APN |
11 |
17,179,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03148:Dnaaf10
|
APN |
11 |
17,179,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03147:Dnaaf10
|
UTSW |
11 |
17,179,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Dnaaf10
|
UTSW |
11 |
17,179,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Dnaaf10
|
UTSW |
11 |
17,179,821 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1013:Dnaaf10
|
UTSW |
11 |
17,178,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Dnaaf10
|
UTSW |
11 |
17,177,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2030:Dnaaf10
|
UTSW |
11 |
17,179,832 (GRCm39) |
missense |
probably benign |
|
|
R4663:Dnaaf10
|
UTSW |
11 |
17,182,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4676:Dnaaf10
|
UTSW |
11 |
17,179,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4822:Dnaaf10
|
UTSW |
11 |
17,177,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Dnaaf10
|
UTSW |
11 |
17,172,220 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5439:Dnaaf10
|
UTSW |
11 |
17,162,031 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5473:Dnaaf10
|
UTSW |
11 |
17,174,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5642:Dnaaf10
|
UTSW |
11 |
17,177,263 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5771:Dnaaf10
|
UTSW |
11 |
17,174,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6680:Dnaaf10
|
UTSW |
11 |
17,179,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Dnaaf10
|
UTSW |
11 |
17,172,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Dnaaf10
|
UTSW |
11 |
17,182,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7693:Dnaaf10
|
UTSW |
11 |
17,162,064 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7785:Dnaaf10
|
UTSW |
11 |
17,179,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dnaaf10
|
UTSW |
11 |
17,178,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation