Incidental Mutation 'IGL02805:Dnaaf3'
ID |
360388 |
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 # |
IGL02805
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4525932-4535452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4526704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 458
(G458R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094897]
[ENSMUST00000098859]
[ENSMUST00000209148]
[ENSMUST00000154913]
[ENSMUST00000140424]
|
AlphaFold |
Q3UYV8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094897
AA Change: G458R
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092498 Gene: ENSMUSG00000055809 AA Change: G458R
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: ENSMUST00000209148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205662
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150166
|
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 |
|
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,113,959 (GRCm39) |
|
probably benign |
Het |
Ankdd1b |
A |
G |
13: 96,580,810 (GRCm39) |
S163P |
probably benign |
Het |
Ap5z1 |
G |
A |
5: 142,456,038 (GRCm39) |
|
probably benign |
Het |
Asb14 |
A |
G |
14: 26,623,144 (GRCm39) |
N172S |
possibly damaging |
Het |
Avil |
G |
A |
10: 126,843,486 (GRCm39) |
V139I |
possibly damaging |
Het |
C130073F10Rik |
A |
T |
4: 101,748,171 (GRCm39) |
M1K |
probably null |
Het |
Ccdc33 |
T |
A |
9: 58,005,874 (GRCm39) |
I37F |
probably benign |
Het |
Ccdc9 |
T |
C |
7: 16,009,199 (GRCm39) |
M550V |
probably benign |
Het |
Cfap119 |
T |
C |
7: 127,185,566 (GRCm39) |
D121G |
possibly damaging |
Het |
Cgn |
T |
A |
3: 94,681,687 (GRCm39) |
L469F |
probably damaging |
Het |
Dscaml1 |
T |
A |
9: 45,359,195 (GRCm39) |
N151K |
probably damaging |
Het |
Dsel |
A |
G |
1: 111,790,046 (GRCm39) |
V163A |
probably damaging |
Het |
Epg5 |
A |
G |
18: 78,073,406 (GRCm39) |
|
probably benign |
Het |
Fanca |
A |
T |
8: 124,016,233 (GRCm39) |
I670N |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,823,839 (GRCm39) |
V6524A |
probably benign |
Het |
Gm10985 |
T |
C |
3: 53,752,514 (GRCm39) |
|
probably null |
Het |
Gm1818 |
C |
T |
12: 48,602,518 (GRCm39) |
|
noncoding transcript |
Het |
Hars2 |
C |
T |
18: 36,920,630 (GRCm39) |
R158* |
probably null |
Het |
Htr5b |
A |
G |
1: 121,455,617 (GRCm39) |
V101A |
probably damaging |
Het |
Ipp |
A |
G |
4: 116,386,885 (GRCm39) |
I356V |
possibly damaging |
Het |
Itga8 |
T |
A |
2: 12,194,291 (GRCm39) |
N703I |
possibly damaging |
Het |
Or8b3 |
T |
A |
9: 38,315,132 (GRCm39) |
|
probably benign |
Het |
Ppp6r3 |
T |
C |
19: 3,542,428 (GRCm39) |
N406D |
probably benign |
Het |
Rbbp6 |
G |
A |
7: 122,600,411 (GRCm39) |
|
probably benign |
Het |
Rgs7 |
T |
C |
1: 174,977,262 (GRCm39) |
Y114C |
probably damaging |
Het |
Ripor1 |
A |
G |
8: 106,344,203 (GRCm39) |
T446A |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,325,892 (GRCm39) |
D1562G |
probably damaging |
Het |
Scaf11 |
A |
T |
15: 96,318,063 (GRCm39) |
D500E |
possibly damaging |
Het |
Spock1 |
A |
G |
13: 58,055,391 (GRCm39) |
I4T |
possibly damaging |
Het |
Srebf2 |
C |
A |
15: 82,054,045 (GRCm39) |
N35K |
probably benign |
Het |
Srgap3 |
G |
T |
6: 112,704,224 (GRCm39) |
H922N |
probably damaging |
Het |
Stk32c |
A |
C |
7: 138,701,762 (GRCm39) |
H112Q |
probably damaging |
Het |
Styxl2 |
T |
C |
1: 165,926,630 (GRCm39) |
E994G |
probably damaging |
Het |
Thumpd3 |
A |
G |
6: 113,043,758 (GRCm39) |
D391G |
probably damaging |
Het |
Vmn2r38 |
T |
A |
7: 9,078,546 (GRCm39) |
H612L |
probably damaging |
Het |
Vsig10l |
T |
G |
7: 43,114,666 (GRCm39) |
I289S |
probably damaging |
Het |
Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
Zscan4d |
T |
G |
7: 10,898,897 (GRCm39) |
|
probably benign |
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 |
IGL02319:Dnaaf3
|
APN |
7 |
4,526,946 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |