Incidental Mutation 'R5487:Dnaaf3'
| ID |
430408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf3
|
| Ensembl Gene |
ENSMUSG00000055809 |
| Gene Name |
dynein, axonemal assembly factor 3 |
| Synonyms |
6030429G01Rik, b2b1739Clo |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.483)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4525932-4535452 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 4526864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094897]
[ENSMUST00000098859]
[ENSMUST00000140424]
[ENSMUST00000209148]
[ENSMUST00000154913]
|
| AlphaFold |
Q3UYV8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094897
|
| SMART Domains |
Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGATTCCACAGCTGAGTC -3'
(R):5'- AAGCTTTGCAGTCTCCATCCTG -3'
Sequencing Primer
(F):5'- ATTCCACAGCTGAGTCTCCGC -3'
(R):5'- ACCTGTGTATCTCAGCTCCTAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation