Incidental Mutation 'R2844:Dnaaf11'
ID |
251465 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf11
|
Ensembl Gene |
ENSMUSG00000022375 |
Gene Name |
dynein axonemal assembly factor 11 |
Synonyms |
LRTP, Lrrc6 |
MMRRC Submission |
040437-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R2844 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
66251707-66372759 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 66319525 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (42/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
G |
A |
3: 59,843,830 (GRCm39) |
V175I |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,736,164 (GRCm39) |
I186F |
probably benign |
Het |
Afg3l1 |
T |
C |
8: 124,221,678 (GRCm39) |
|
probably benign |
Het |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Ccdc50 |
A |
G |
16: 27,225,479 (GRCm39) |
E64G |
probably damaging |
Het |
Celsr3 |
G |
T |
9: 108,706,507 (GRCm39) |
G997W |
probably damaging |
Het |
Chd8 |
C |
T |
14: 52,441,952 (GRCm39) |
E2138K |
possibly damaging |
Het |
Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Fzr1 |
G |
T |
10: 81,205,252 (GRCm39) |
T159K |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gna13 |
T |
C |
11: 109,253,951 (GRCm39) |
I51T |
probably damaging |
Het |
Gorab |
A |
G |
1: 163,224,375 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
Ints6 |
A |
G |
14: 62,942,275 (GRCm39) |
V486A |
probably damaging |
Het |
Irx2 |
A |
G |
13: 72,779,709 (GRCm39) |
K331R |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Med14 |
A |
T |
X: 12,550,235 (GRCm39) |
H684Q |
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
Pde5a |
T |
C |
3: 122,645,357 (GRCm39) |
L755P |
probably damaging |
Het |
Pex14 |
A |
T |
4: 149,047,968 (GRCm39) |
I203N |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,168,657 (GRCm39) |
E691G |
probably damaging |
Het |
Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
Pnoc |
A |
T |
14: 65,642,284 (GRCm39) |
F160I |
probably damaging |
Het |
Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
Ppil6 |
A |
T |
10: 41,377,689 (GRCm39) |
|
probably benign |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Psme4 |
T |
C |
11: 30,795,173 (GRCm39) |
|
probably benign |
Het |
Rfx3 |
T |
C |
19: 27,784,186 (GRCm39) |
|
probably benign |
Het |
Rnase11 |
A |
G |
14: 51,287,227 (GRCm39) |
L109S |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,368,678 (GRCm39) |
T404A |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
G |
16: 35,480,301 (GRCm39) |
N656S |
probably damaging |
Het |
Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
Thbs1 |
C |
T |
2: 117,948,109 (GRCm39) |
T423I |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,206,419 (GRCm39) |
Y243* |
probably null |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zfp648 |
A |
T |
1: 154,080,881 (GRCm39) |
K347* |
probably null |
Het |
Zfp84 |
T |
G |
7: 29,474,758 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTCAACATGTTCTAGTCAAACC -3'
(R):5'- CCCTGGCAAATTGTTTTGGTC -3'
Sequencing Primer
(F):5'- GTTCTAGTCAAACCAAGCCTGTGG -3'
(R):5'- TTAAGGGGACAGACTCTCGATG -3'
|
Posted On |
2014-12-04 |