Incidental Mutation 'R1013:Dnaaf10'
ID |
95894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf10
|
Ensembl Gene |
ENSMUSG00000078970 |
Gene Name |
dynein axonemal assembly factor 10 |
Synonyms |
Wdr92 |
MMRRC Submission |
039117-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.475)
|
Stock # |
R1013 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
17161893-17185200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17178183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 226
(K226E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046955]
|
AlphaFold |
Q8BGF3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046955
AA Change: K226E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040938 Gene: ENSMUSG00000078970 AA Change: K226E
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 |
0.5597 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.4%
|
Validation Efficiency |
98% (39/40) |
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 |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Bclaf1 |
T |
A |
10: 20,207,822 (GRCm39) |
|
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,884,377 (GRCm39) |
|
probably benign |
Het |
C8a |
T |
C |
4: 104,685,236 (GRCm39) |
I336V |
probably benign |
Het |
Calcr |
A |
T |
6: 3,692,621 (GRCm39) |
V374D |
probably damaging |
Het |
Col28a1 |
A |
G |
6: 7,999,452 (GRCm39) |
|
probably benign |
Het |
Cuedc1 |
C |
T |
11: 88,078,853 (GRCm39) |
A327V |
possibly damaging |
Het |
Cul2 |
C |
A |
18: 3,425,535 (GRCm39) |
Y378* |
probably null |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
TG |
TGNG |
19: 11,489,147 (GRCm39) |
|
probably null |
Het |
Hivep1 |
A |
G |
13: 42,310,438 (GRCm39) |
R893G |
probably damaging |
Het |
Il10rb |
A |
G |
16: 91,211,581 (GRCm39) |
N140D |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,150,847 (GRCm39) |
M818V |
probably benign |
Het |
Kyat3 |
T |
C |
3: 142,432,007 (GRCm39) |
I245T |
probably damaging |
Het |
Lck |
C |
T |
4: 129,451,920 (GRCm39) |
C20Y |
probably damaging |
Het |
Mcm6 |
T |
G |
1: 128,276,778 (GRCm39) |
S271R |
probably benign |
Het |
Megf10 |
A |
G |
18: 57,394,291 (GRCm39) |
I472V |
probably benign |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mrpl11 |
T |
C |
19: 5,013,651 (GRCm39) |
I144T |
possibly damaging |
Het |
Or2t26 |
G |
A |
11: 49,039,977 (GRCm39) |
V298M |
probably damaging |
Het |
Or8k25 |
G |
A |
2: 86,244,319 (GRCm39) |
P26S |
possibly damaging |
Het |
Pcdhb17 |
A |
G |
18: 37,619,020 (GRCm39) |
D270G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,597,608 (GRCm39) |
|
probably benign |
Het |
Ppp3cb |
T |
A |
14: 20,574,072 (GRCm39) |
E255D |
probably benign |
Het |
Psenen |
A |
G |
7: 30,261,802 (GRCm39) |
F38S |
possibly damaging |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Sorl1 |
T |
C |
9: 41,913,855 (GRCm39) |
N1358S |
probably benign |
Het |
Trim3 |
G |
A |
7: 105,267,102 (GRCm39) |
P426S |
probably benign |
Het |
Ttc28 |
T |
C |
5: 111,424,831 (GRCm39) |
M1552T |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,840,614 (GRCm39) |
D79G |
probably benign |
Het |
Zcchc14 |
A |
G |
8: 122,333,664 (GRCm39) |
|
probably benign |
Het |
Zfp354a |
T |
C |
11: 50,951,677 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
T |
C |
13: 67,767,626 (GRCm39) |
I868V |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGGGAACCCAGATGGCTTTAC -3'
(R):5'- GATCCCACAAGTACATGGCAGACAG -3'
Sequencing Primer
(F):5'- accatctgtaactccacttcc -3'
(R):5'- TACATGGCAGACAGAGGAAGC -3'
|
Posted On |
2014-01-05 |