Incidental Mutation 'IGL02985:Dnaaf10'
| ID |
406683 |
| 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 non essential
(E-score: 0.475)
|
| Stock # |
IGL02985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
17161893-17185200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17179845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 282
(G282E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046955]
|
| AlphaFold |
Q8BGF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046955
AA Change: G282E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: G282E
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| 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 |
|---|
| Actc1 |
T |
C |
2: 113,878,641 (GRCm39) |
E318G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,947,185 (GRCm39) |
V2968A |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,012,906 (GRCm39) |
L1862S |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,118,634 (GRCm39) |
I722F |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,695 (GRCm39) |
V170A |
probably benign |
Het |
| Dph1 |
A |
G |
11: 75,074,419 (GRCm39) |
V131A |
possibly damaging |
Het |
| Galr1 |
A |
T |
18: 82,411,855 (GRCm39) |
M337K |
probably benign |
Het |
| Gm14214 |
G |
T |
2: 154,611,374 (GRCm39) |
T160N |
probably benign |
Het |
| Gpatch8 |
G |
T |
11: 102,372,336 (GRCm39) |
H401N |
unknown |
Het |
| Higd1a |
A |
G |
9: 121,681,596 (GRCm39) |
F20L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,668 (GRCm39) |
I2761K |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,235,114 (GRCm39) |
Y83N |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,414,901 (GRCm39) |
P255S |
probably benign |
Het |
| Kpna2 |
T |
C |
11: 106,880,163 (GRCm39) |
Y495C |
probably benign |
Het |
| Krt36 |
G |
T |
11: 99,994,005 (GRCm39) |
Q327K |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,690,444 (GRCm39) |
M153V |
probably benign |
Het |
| Map9 |
A |
T |
3: 82,267,209 (GRCm39) |
R30* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,013,239 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,599,395 (GRCm39) |
I397K |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,461,637 (GRCm39) |
|
probably null |
Het |
| Mrgprx2 |
C |
T |
7: 48,132,245 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or4c58 |
A |
T |
2: 89,674,684 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,017 (GRCm39) |
V209A |
possibly damaging |
Het |
| Pde7a |
T |
A |
3: 19,365,047 (GRCm39) |
H40L |
probably damaging |
Het |
| Phactr3 |
T |
C |
2: 177,817,250 (GRCm39) |
V22A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,994,842 (GRCm39) |
E1104* |
probably null |
Het |
| Ppp2cb |
A |
G |
8: 34,105,474 (GRCm39) |
|
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,383,370 (GRCm39) |
Y12F |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,993,723 (GRCm39) |
|
probably null |
Het |
| Rfesd |
T |
C |
13: 76,156,331 (GRCm39) |
D25G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,533 (GRCm39) |
M429I |
possibly damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Ube2d2b |
T |
C |
5: 107,978,663 (GRCm39) |
S105P |
probably damaging |
Het |
| Zfp518a |
C |
T |
19: 40,902,111 (GRCm39) |
T680I |
possibly damaging |
Het |
|
| Other mutations in Dnaaf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01678:Dnaaf10
|
APN |
11 |
17,182,790 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation