Incidental Mutation 'IGL02074:Dnaaf11'
| ID |
185932 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnaaf11
|
| Ensembl Gene |
ENSMUSG00000022375 |
| Gene Name |
dynein axonemal assembly factor 11 |
| Synonyms |
LRTP, Lrrc6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
IGL02074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
66251707-66372759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66361339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 54
(N54S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023006]
|
| AlphaFold |
O88978 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023006
AA Change: N54S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: N54S
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
23 |
65 |
8.03e-6 |
PROSPERO |
|
internal_repeat_1
|
68 |
109 |
8.03e-6 |
PROSPERO |
|
LRRcap
|
128 |
146 |
2.42e-2 |
SMART |
|
low complexity region
|
178 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
471 |
N/A |
INTRINSIC |
|
| 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 contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,184,176 (GRCm39) |
S974G |
probably benign |
Het |
| Abi2 |
T |
C |
1: 60,486,466 (GRCm39) |
V209A |
probably damaging |
Het |
| Ankrd33b |
C |
A |
15: 31,297,807 (GRCm39) |
V317F |
probably damaging |
Het |
| Arcn1 |
A |
G |
9: 44,670,309 (GRCm39) |
C106R |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,296,980 (GRCm39) |
H695R |
probably benign |
Het |
| Bag4 |
G |
T |
8: 26,259,383 (GRCm39) |
T272K |
possibly damaging |
Het |
| Cnot6 |
T |
C |
11: 49,580,070 (GRCm39) |
H74R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,585,051 (GRCm39) |
A397D |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,742,580 (GRCm39) |
Q91K |
probably benign |
Het |
| Dixdc1 |
C |
T |
9: 50,613,317 (GRCm39) |
V212M |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,873,349 (GRCm39) |
E1137G |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,295,318 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,963,297 (GRCm39) |
I1132F |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,188,514 (GRCm39) |
V432I |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,265 (GRCm39) |
S2449G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,737,192 (GRCm39) |
|
probably benign |
Het |
| L1cam |
A |
G |
X: 72,906,619 (GRCm39) |
W275R |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,722,579 (GRCm39) |
V660A |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,673,463 (GRCm39) |
D633G |
possibly damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,497 (GRCm39) |
M140K |
probably damaging |
Het |
| Or55b3 |
G |
T |
7: 102,126,679 (GRCm39) |
H133N |
probably benign |
Het |
| Or7g33 |
A |
T |
9: 19,449,148 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or8d23 |
A |
T |
9: 38,841,979 (GRCm39) |
T171S |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,096,775 (GRCm39) |
T146A |
possibly damaging |
Het |
| Rnf123 |
A |
T |
9: 107,944,088 (GRCm39) |
L508Q |
probably damaging |
Het |
| Scaf4 |
G |
T |
16: 90,039,808 (GRCm39) |
P812T |
unknown |
Het |
| Slc45a2 |
A |
G |
15: 11,000,903 (GRCm39) |
M1V |
probably null |
Het |
| Ttr |
T |
C |
18: 20,799,580 (GRCm39) |
V46A |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,113,206 (GRCm39) |
K216R |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,603 (GRCm39) |
I251V |
probably benign |
Het |
| Xlr |
A |
T |
X: 52,798,101 (GRCm39) |
|
probably benign |
Het |
| Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
|
| Other mutations in Dnaaf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Dnaaf11
|
APN |
15 |
66,353,082 (GRCm39) |
splice site |
probably benign |
|
|
IGL01313:Dnaaf11
|
APN |
15 |
66,252,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01739:Dnaaf11
|
APN |
15 |
66,321,326 (GRCm39) |
missense |
probably benign |
|
|
IGL01863:Dnaaf11
|
APN |
15 |
66,268,823 (GRCm39) |
splice site |
probably benign |
|
|
IGL02146:Dnaaf11
|
APN |
15 |
66,361,375 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02146:Dnaaf11
|
APN |
15 |
66,361,374 (GRCm39) |
nonsense |
probably null |
|
|
IGL03194:Dnaaf11
|
APN |
15 |
66,314,048 (GRCm39) |
missense |
probably benign |
0.03 |
|
droopy
|
UTSW |
15 |
66,319,525 (GRCm39) |
splice site |
probably benign |
|
|
R0087:Dnaaf11
|
UTSW |
15 |
66,341,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0178:Dnaaf11
|
UTSW |
15 |
66,325,950 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0463:Dnaaf11
|
UTSW |
15 |
66,252,323 (GRCm39) |
missense |
probably benign |
|
|
R0539:Dnaaf11
|
UTSW |
15 |
66,319,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0608:Dnaaf11
|
UTSW |
15 |
66,252,323 (GRCm39) |
missense |
probably benign |
|
|
R1124:Dnaaf11
|
UTSW |
15 |
66,310,264 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2209:Dnaaf11
|
UTSW |
15 |
66,321,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2257:Dnaaf11
|
UTSW |
15 |
66,309,436 (GRCm39) |
splice site |
probably benign |
|
|
R2844:Dnaaf11
|
UTSW |
15 |
66,319,525 (GRCm39) |
splice site |
probably benign |
|
|
R2867:Dnaaf11
|
UTSW |
15 |
66,310,257 (GRCm39) |
nonsense |
probably null |
|
|
R2867:Dnaaf11
|
UTSW |
15 |
66,310,257 (GRCm39) |
nonsense |
probably null |
|
|
R4281:Dnaaf11
|
UTSW |
15 |
66,252,378 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5163:Dnaaf11
|
UTSW |
15 |
66,314,067 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5636:Dnaaf11
|
UTSW |
15 |
66,372,665 (GRCm39) |
splice site |
probably null |
|
|
R6365:Dnaaf11
|
UTSW |
15 |
66,325,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6567:Dnaaf11
|
UTSW |
15 |
66,310,228 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7751:Dnaaf11
|
UTSW |
15 |
66,321,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7774:Dnaaf11
|
UTSW |
15 |
66,321,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7963:Dnaaf11
|
UTSW |
15 |
66,252,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Dnaaf11
|
UTSW |
15 |
66,321,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9499:Dnaaf11
|
UTSW |
15 |
66,361,483 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Dnaaf11
|
UTSW |
15 |
66,341,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-05-07 |
Incidental Mutation