Incidental Mutation 'IGL01292:Dnaaf11'
| ID |
72960 |
| 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: 0.193)
|
| Stock # |
IGL01292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
66251707-66372759 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 66353082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023006]
|
| AlphaFold |
O88978 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023006
|
| SMART Domains |
Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,831 (GRCm39) |
S1045G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,926,520 (GRCm39) |
|
probably benign |
Het |
| Car15 |
A |
G |
16: 17,653,393 (GRCm39) |
F258S |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,737,071 (GRCm39) |
I241T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,410,098 (GRCm39) |
D1758G |
probably damaging |
Het |
| Eogt |
T |
A |
6: 97,120,988 (GRCm39) |
N75I |
possibly damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,919 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,664,161 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,533 (GRCm39) |
E304K |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,618,696 (GRCm39) |
V234A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,141,387 (GRCm39) |
I334N |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,638,175 (GRCm39) |
A967D |
probably damaging |
Het |
| Mtrf1l |
A |
T |
10: 5,764,090 (GRCm39) |
M291K |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,778,470 (GRCm39) |
|
noncoding transcript |
Het |
| Myl3 |
A |
T |
9: 110,597,045 (GRCm39) |
D135V |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,446,805 (GRCm39) |
L537M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,232,403 (GRCm39) |
D324G |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,640,229 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
A |
T |
5: 116,162,169 (GRCm39) |
F47Y |
probably damaging |
Het |
| Prkag2 |
C |
T |
5: 25,226,963 (GRCm39) |
S98N |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,344 (GRCm39) |
V15D |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,051 (GRCm39) |
C67* |
probably null |
Het |
| Slc25a15 |
T |
C |
8: 22,880,052 (GRCm39) |
D31G |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,752 (GRCm39) |
|
probably null |
Het |
| Snx15 |
A |
T |
19: 6,169,915 (GRCm39) |
M331K |
probably benign |
Het |
| Tsks |
T |
C |
7: 44,601,982 (GRCm39) |
Y224H |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,639,864 (GRCm39) |
S123P |
probably damaging |
Het |
| Xpnpep3 |
T |
G |
15: 81,311,699 (GRCm39) |
V135G |
probably damaging |
Het |
|
| Other mutations in Dnaaf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02074:Dnaaf11
|
APN |
15 |
66,361,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation