Incidental Mutation 'R6567:Dnaaf11'
| ID |
522782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf11
|
| Ensembl Gene |
ENSMUSG00000022375 |
| Gene Name |
dynein axonemal assembly factor 11 |
| Synonyms |
LRTP, Lrrc6 |
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66251707-66372759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66310228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 347
(V347I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023006]
|
| AlphaFold |
O88978 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023006
AA Change: V347I
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: V347I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
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 |
|
|
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 |
|
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'- CATCCTTGTGGTGTGGAAGGAC -3'
(R):5'- TGCCAAGTGTACTCGTATGTC -3'
Sequencing Primer
(F):5'- TGTGGAAGGACATGCCCATC -3'
(R):5'- CCTCTGGACTAGGAATAATTTAAGGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation