Incidental Mutation 'IGL02319:Dnaaf3'
| ID |
288162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnaaf3
|
| Ensembl Gene |
ENSMUSG00000055809 |
| Gene Name |
dynein, axonemal assembly factor 3 |
| Synonyms |
6030429G01Rik, b2b1739Clo |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.483)
|
| Stock # |
IGL02319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4525932-4535452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4526946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 403
(E403G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094897]
[ENSMUST00000098859]
[ENSMUST00000140424]
[ENSMUST00000209148]
[ENSMUST00000154913]
|
| AlphaFold |
Q3UYV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094897
AA Change: E403G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809
AA Change: E403G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4470
|
16 |
122 |
1.3e-27 |
PFAM |
|
Pfam:DUF4471
|
154 |
436 |
5.3e-104 |
PFAM |
|
internal_repeat_1
|
467 |
512 |
1.63e-5 |
PROSPERO |
|
internal_repeat_1
|
525 |
568 |
1.63e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098859
|
| SMART Domains |
Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Troponin-I_N
|
1 |
32 |
1e-10 |
PFAM |
|
Pfam:Troponin
|
47 |
178 |
3.6e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132621
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140424
|
| SMART Domains |
Protein: ENSMUSP00000115015
Gene: ENSMUSG00000035458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Troponin-I_N
|
1 |
32 |
1.1e-14 |
PFAM |
|
Pfam:Troponin
|
47 |
125 |
3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154913
|
| SMART Domains |
Protein: ENSMUSP00000122916
Gene: ENSMUSG00000035458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Troponin-I_N
|
1 |
32 |
9e-15 |
PFAM |
|
Pfam:Troponin
|
47 |
112 |
1.8e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,717,265 (GRCm39) |
H854R |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
| Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
| Ctif |
C |
T |
18: 75,654,944 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
| Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
| Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
| Lpcat4 |
G |
A |
2: 112,074,229 (GRCm39) |
V264M |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
| Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
| Or8b47 |
T |
A |
9: 38,435,166 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,550,885 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
| Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
| Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,681,485 (GRCm39) |
M264K |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
| Trmt11 |
A |
T |
10: 30,436,869 (GRCm39) |
D290E |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly damaging |
Het |
|
| Other mutations in Dnaaf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02197:Dnaaf3
|
APN |
7 |
4,530,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02805:Dnaaf3
|
APN |
7 |
4,526,704 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1818:Dnaaf3
|
UTSW |
7 |
4,526,569 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1818:Dnaaf3
|
UTSW |
7 |
4,526,568 (GRCm39) |
splice site |
probably null |
|
|
R2063:Dnaaf3
|
UTSW |
7 |
4,526,798 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2064:Dnaaf3
|
UTSW |
7 |
4,526,798 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2066:Dnaaf3
|
UTSW |
7 |
4,526,798 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2068:Dnaaf3
|
UTSW |
7 |
4,526,798 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2132:Dnaaf3
|
UTSW |
7 |
4,526,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:Dnaaf3
|
UTSW |
7 |
4,535,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4710:Dnaaf3
|
UTSW |
7 |
4,529,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Dnaaf3
|
UTSW |
7 |
4,529,903 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4939:Dnaaf3
|
UTSW |
7 |
4,530,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5487:Dnaaf3
|
UTSW |
7 |
4,526,864 (GRCm39) |
splice site |
probably null |
|
|
R5846:Dnaaf3
|
UTSW |
7 |
4,526,686 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6084:Dnaaf3
|
UTSW |
7 |
4,527,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6218:Dnaaf3
|
UTSW |
7 |
4,526,671 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6576:Dnaaf3
|
UTSW |
7 |
4,526,379 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6916:Dnaaf3
|
UTSW |
7 |
4,530,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Dnaaf3
|
UTSW |
7 |
4,531,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Dnaaf3
|
UTSW |
7 |
4,526,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8678:Dnaaf3
|
UTSW |
7 |
4,533,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Dnaaf3
|
UTSW |
7 |
4,531,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dnaaf3
|
UTSW |
7 |
4,526,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation