Incidental Mutation 'IGL01801:Dnaaf10'
| ID |
155520 |
| 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 # |
IGL01801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
17161893-17185200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17169015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 62
(I62T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046955]
|
| AlphaFold |
Q8BGF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046955
AA Change: I62T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: I62T
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,870 (GRCm39) |
|
noncoding transcript |
Het |
| Acsm4 |
C |
T |
7: 119,306,486 (GRCm39) |
T308I |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,559 (GRCm39) |
N174S |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,265,918 (GRCm39) |
G281D |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,086 (GRCm39) |
N1027S |
probably null |
Het |
| Cacnb4 |
A |
T |
2: 52,324,723 (GRCm39) |
N446K |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,606,623 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,679,393 (GRCm39) |
D215G |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,257,046 (GRCm39) |
T312A |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,895,279 (GRCm39) |
N467I |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,435,216 (GRCm39) |
T444A |
probably benign |
Het |
| Gabra6 |
A |
C |
11: 42,205,935 (GRCm39) |
I307R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,057,111 (GRCm39) |
R287H |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,574 (GRCm39) |
V127A |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,436,815 (GRCm39) |
T54S |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,572 (GRCm39) |
D283G |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,232,642 (GRCm39) |
R70G |
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Or4n4 |
A |
G |
14: 50,519,665 (GRCm39) |
I15T |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,334,576 (GRCm39) |
|
probably null |
Het |
| Prmt9 |
T |
C |
8: 78,289,069 (GRCm39) |
V257A |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,434,072 (GRCm39) |
V959A |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,225,131 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation