Incidental Mutation 'R7963:Dnaaf11'
ID |
650237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf11
|
Ensembl Gene |
ENSMUSG00000022375 |
Gene Name |
dynein axonemal assembly factor 11 |
Synonyms |
LRTP, Lrrc6 |
MMRRC Submission |
046006-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R7963 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
66251707-66372759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 66252366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 433
(D433E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023006
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023006]
|
AlphaFold |
O88978 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023006
AA Change: D433E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023006 Gene: ENSMUSG00000022375 AA Change: D433E
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
G |
13: 77,340,673 (GRCm39) |
K101E |
probably benign |
Het |
4930407I10Rik |
A |
G |
15: 81,948,137 (GRCm39) |
K678R |
possibly damaging |
Het |
Akr1b10 |
G |
C |
6: 34,364,643 (GRCm39) |
A35P |
possibly damaging |
Het |
Arhgef10l |
T |
C |
4: 140,306,736 (GRCm39) |
E106G |
probably damaging |
Het |
Atp9a |
T |
C |
2: 168,516,732 (GRCm39) |
Y445C |
probably damaging |
Het |
Btbd18 |
T |
C |
2: 84,498,239 (GRCm39) |
S626P |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,171,967 (GRCm39) |
N1738K |
probably damaging |
Het |
Cdv3 |
T |
C |
9: 103,241,210 (GRCm39) |
D119G |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,244,737 (GRCm39) |
F1240L |
possibly damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Ctsr |
C |
A |
13: 61,310,276 (GRCm39) |
V127L |
probably damaging |
Het |
Dlg1 |
G |
A |
16: 31,609,119 (GRCm39) |
R271Q |
probably null |
Het |
Dnajc1 |
G |
A |
2: 18,227,535 (GRCm39) |
T377I |
possibly damaging |
Het |
F2rl3 |
T |
C |
8: 73,489,333 (GRCm39) |
Y187H |
probably damaging |
Het |
Fgf1 |
A |
T |
18: 38,980,167 (GRCm39) |
V69E |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,281,844 (GRCm39) |
K171E |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Il2ra |
G |
A |
2: 11,679,235 (GRCm39) |
R65H |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,817,947 (GRCm39) |
I2428V |
|
Het |
Lrp3 |
G |
A |
7: 34,902,404 (GRCm39) |
Q579* |
probably null |
Het |
Ncoa6 |
G |
A |
2: 155,247,916 (GRCm39) |
T1796I |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,225,359 (GRCm39) |
I747V |
probably benign |
Het |
Nfkb2 |
C |
T |
19: 46,298,358 (GRCm39) |
T554M |
possibly damaging |
Het |
Nrde2 |
T |
C |
12: 100,116,127 (GRCm39) |
D119G |
probably damaging |
Het |
Odf2 |
C |
A |
2: 29,816,112 (GRCm39) |
Q720K |
probably benign |
Het |
Or4c52 |
T |
C |
2: 89,846,003 (GRCm39) |
V243A |
possibly damaging |
Het |
Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
Or5w1b |
C |
T |
2: 87,475,769 (GRCm39) |
E233K |
probably benign |
Het |
Or8k33 |
T |
C |
2: 86,383,639 (GRCm39) |
I276M |
possibly damaging |
Het |
Pcx |
T |
C |
19: 4,652,034 (GRCm39) |
V94A |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,694,030 (GRCm39) |
Y131N |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Plod2 |
A |
G |
9: 92,487,499 (GRCm39) |
H606R |
probably benign |
Het |
Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,330,173 (GRCm39) |
E207G |
probably damaging |
Het |
Slc28a3 |
A |
G |
13: 58,724,580 (GRCm39) |
Y225H |
probably damaging |
Het |
Spag17 |
T |
A |
3: 99,929,954 (GRCm39) |
M551K |
probably benign |
Het |
Ssh2 |
C |
A |
11: 77,312,182 (GRCm39) |
A231D |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,683,887 (GRCm39) |
|
probably null |
Het |
Stac2 |
T |
C |
11: 97,932,403 (GRCm39) |
T197A |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,067,174 (GRCm39) |
L4291Q |
probably benign |
Het |
Vmn2r38 |
A |
T |
7: 9,095,854 (GRCm39) |
D179E |
probably benign |
Het |
Zfp597 |
T |
C |
16: 3,689,022 (GRCm39) |
D51G |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,793,538 (GRCm39) |
F69L |
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 |
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 |
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'- TGAATGACACATAGCCACTGTC -3'
(R):5'- AAACCAAGGACAGTGTTTCTTTGC -3'
Sequencing Primer
(F):5'- GTCAACACCAAGCAACATGAGTCTG -3'
(R):5'- CAAGGACAGTGTTTCTTTGCAATCTC -3'
|
Posted On |
2020-09-15 |