Incidental Mutation 'PIT4283001:Dnaaf5'
| ID |
554359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf5
|
| Ensembl Gene |
ENSMUSG00000025857 |
| Gene Name |
dynein, axonemal assembly factor 5 |
| Synonyms |
Heatr2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
PIT4283001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139135978-139172265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139151917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 523
(T523A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026975]
[ENSMUST00000196441]
|
| AlphaFold |
B9EJR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026975
AA Change: T523A
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: T523A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
|
Pfam:Vac14_Fab1_bd
|
673 |
770 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196441
AA Change: T228A
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: T228A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vac14_Fab1_bd
|
378 |
475 |
4.1e-5 |
PFAM |
|
Pfam:HEAT
|
447 |
477 |
1.7e-3 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.1%
- 10x: 86.5%
- 20x: 76.2%
|
| 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 essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
C |
10: 76,285,093 (GRCm39) |
M1L |
probably benign |
Het |
| Aacs |
C |
A |
5: 125,561,719 (GRCm39) |
A119D |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,693 (GRCm39) |
V216D |
probably damaging |
Het |
| Adap2 |
T |
A |
11: 80,068,089 (GRCm39) |
L367H |
probably damaging |
Het |
| Adcy7 |
T |
A |
8: 89,042,120 (GRCm39) |
M373K |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,429,354 (GRCm39) |
L507P |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,521,953 (GRCm39) |
D1718G |
probably damaging |
Het |
| Cacna2d1 |
A |
C |
5: 16,507,292 (GRCm39) |
Y347S |
probably benign |
Het |
| Carf |
C |
A |
1: 60,167,161 (GRCm39) |
P165T |
probably benign |
Het |
| Cplx3 |
T |
C |
9: 57,523,359 (GRCm39) |
E66G |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,161,739 (GRCm39) |
S326P |
probably benign |
Het |
| Eif4enif1 |
A |
T |
11: 3,184,464 (GRCm39) |
E528D |
probably damaging |
Het |
| Elp2 |
G |
A |
18: 24,755,187 (GRCm39) |
D392N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,482,577 (GRCm39) |
S3079P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,490,244 (GRCm39) |
V3719F |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,917,897 (GRCm39) |
S1509C |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,614,064 (GRCm39) |
V693A |
probably benign |
Het |
| Frmpd4 |
C |
T |
X: 166,512,030 (GRCm39) |
R8H |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,058,129 (GRCm39) |
I380N |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,366,752 (GRCm39) |
G72D |
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,622,735 (GRCm39) |
E299V |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,187,864 (GRCm39) |
R544H |
probably damaging |
Het |
| Ifitm7 |
A |
T |
16: 13,801,471 (GRCm39) |
V96E |
probably damaging |
Het |
| Lsm14b |
T |
A |
2: 179,674,336 (GRCm39) |
M293K |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,946,432 (GRCm39) |
T1230S |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,355,042 (GRCm39) |
H910L |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,560,110 (GRCm39) |
N247S |
possibly damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,696 (GRCm39) |
I116T |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,420,572 (GRCm39) |
M296V |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,323,068 (GRCm39) |
S264G |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,701,774 (GRCm39) |
R802W |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,864 (GRCm39) |
E41G |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,990,489 (GRCm39) |
I112T |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,020,921 (GRCm39) |
M1T |
probably null |
Het |
| Rtel1 |
T |
C |
2: 180,988,683 (GRCm39) |
I417T |
probably benign |
Het |
| Sirt1 |
A |
T |
10: 63,157,565 (GRCm39) |
N616K |
probably benign |
Het |
| Sirt6 |
T |
C |
10: 81,458,252 (GRCm39) |
S334G |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,205,788 (GRCm39) |
Y827C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,597,594 (GRCm39) |
Y385H |
possibly damaging |
Het |
| Tgm5 |
T |
C |
2: 120,902,066 (GRCm39) |
E201G |
possibly damaging |
Het |
| Thbd |
G |
C |
2: 148,249,003 (GRCm39) |
N288K |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,169,064 (GRCm39) |
N1068K |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,904,756 (GRCm39) |
E361G |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,835,158 (GRCm39) |
N2736S |
|
Het |
| Vwa5b1 |
A |
G |
4: 138,327,574 (GRCm39) |
L334P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,355 (GRCm39) |
S4226P |
unknown |
Het |
| Zdhhc24 |
T |
C |
19: 4,928,778 (GRCm39) |
M1T |
probably null |
Het |
|
| Other mutations in Dnaaf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Dnaaf5
|
APN |
5 |
139,163,701 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL00730:Dnaaf5
|
APN |
5 |
139,137,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01468:Dnaaf5
|
APN |
5 |
139,137,235 (GRCm39) |
splice site |
probably null |
|
|
IGL02106:Dnaaf5
|
APN |
5 |
139,137,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02273:Dnaaf5
|
APN |
5 |
139,163,671 (GRCm39) |
nonsense |
probably null |
|
|
IGL02514:Dnaaf5
|
APN |
5 |
139,159,872 (GRCm39) |
splice site |
probably benign |
|
|
IGL02572:Dnaaf5
|
APN |
5 |
139,170,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02699:Dnaaf5
|
APN |
5 |
139,139,105 (GRCm39) |
splice site |
probably benign |
|
|
PIT4142001:Dnaaf5
|
UTSW |
5 |
139,171,273 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0458:Dnaaf5
|
UTSW |
5 |
139,147,633 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2060:Dnaaf5
|
UTSW |
5 |
139,163,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Dnaaf5
|
UTSW |
5 |
139,167,320 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3833:Dnaaf5
|
UTSW |
5 |
139,167,320 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3944:Dnaaf5
|
UTSW |
5 |
139,138,679 (GRCm39) |
start gained |
probably benign |
|
|
R4438:Dnaaf5
|
UTSW |
5 |
139,149,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4534:Dnaaf5
|
UTSW |
5 |
139,137,282 (GRCm39) |
nonsense |
probably null |
|
|
R4576:Dnaaf5
|
UTSW |
5 |
139,171,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4581:Dnaaf5
|
UTSW |
5 |
139,170,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Dnaaf5
|
UTSW |
5 |
139,163,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4791:Dnaaf5
|
UTSW |
5 |
139,170,405 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4868:Dnaaf5
|
UTSW |
5 |
139,155,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5011:Dnaaf5
|
UTSW |
5 |
139,149,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Dnaaf5
|
UTSW |
5 |
139,159,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Dnaaf5
|
UTSW |
5 |
139,167,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Dnaaf5
|
UTSW |
5 |
139,147,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5309:Dnaaf5
|
UTSW |
5 |
139,138,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5312:Dnaaf5
|
UTSW |
5 |
139,138,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6632:Dnaaf5
|
UTSW |
5 |
139,156,088 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6863:Dnaaf5
|
UTSW |
5 |
139,137,351 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7292:Dnaaf5
|
UTSW |
5 |
139,136,072 (GRCm39) |
missense |
unknown |
|
|
R7439:Dnaaf5
|
UTSW |
5 |
139,151,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Dnaaf5
|
UTSW |
5 |
139,155,963 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7679:Dnaaf5
|
UTSW |
5 |
139,136,392 (GRCm39) |
missense |
unknown |
|
|
R7706:Dnaaf5
|
UTSW |
5 |
139,138,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Dnaaf5
|
UTSW |
5 |
139,147,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Dnaaf5
|
UTSW |
5 |
139,167,250 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8354:Dnaaf5
|
UTSW |
5 |
139,147,614 (GRCm39) |
frame shift |
probably null |
|
|
R8355:Dnaaf5
|
UTSW |
5 |
139,147,614 (GRCm39) |
frame shift |
probably null |
|
|
R8990:Dnaaf5
|
UTSW |
5 |
139,155,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Dnaaf5
|
UTSW |
5 |
139,138,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Dnaaf5
|
UTSW |
5 |
139,163,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9646:Dnaaf5
|
UTSW |
5 |
139,151,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9649:Dnaaf5
|
UTSW |
5 |
139,159,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Dnaaf5
|
UTSW |
5 |
139,149,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Dnaaf5
|
UTSW |
5 |
139,171,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dnaaf5
|
UTSW |
5 |
139,171,297 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Dnaaf5
|
UTSW |
5 |
139,163,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACTTCTCTGGCTCTTG -3'
(R):5'- CCACCTTGTGAGAGACTCCTTC -3'
Sequencing Primer
(F):5'- CTCTGGCTCTTGCTGCGTG -3'
(R):5'- CCTTTGCTAGTCAAGCCT -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation