Incidental Mutation 'R1145:Dnali1'
ID |
165060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnali1
|
Ensembl Gene |
ENSMUSG00000042707 |
Gene Name |
dynein, axonemal, light intermediate polypeptide 1 |
Synonyms |
1700023A09Rik |
MMRRC Submission |
039218-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1145 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
124949131-124959443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124959340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 18
(S18G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036383]
[ENSMUST00000052183]
|
AlphaFold |
Q8BVN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036383
AA Change: S18G
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047783 Gene: ENSMUSG00000042707 AA Change: S18G
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
Pfam:Ax_dynein_light
|
66 |
252 |
1.2e-96 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052183
|
SMART Domains |
Protein: ENSMUSP00000060721 Gene: ENSMUSG00000050213
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
low complexity region
|
62 |
89 |
N/A |
INTRINSIC |
low complexity region
|
132 |
146 |
N/A |
INTRINSIC |
FHA
|
267 |
331 |
1.52e-14 |
SMART |
low complexity region
|
370 |
378 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145733
|
Meta Mutation Damage Score |
0.0896 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 88.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
AC159637.1 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
Agk |
T |
C |
6: 40,329,372 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
C1s1 |
C |
A |
6: 124,517,759 (GRCm39) |
D74Y |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,659,377 (GRCm39) |
S497P |
probably damaging |
Het |
Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
Gm11143 |
T |
G |
6: 69,594,392 (GRCm39) |
V60G |
unknown |
Het |
Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
Loxl4 |
A |
T |
19: 42,596,994 (GRCm39) |
|
probably benign |
Het |
Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,035,329 (GRCm39) |
Y44H |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,289,169 (GRCm39) |
R884H |
probably damaging |
Het |
Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
Vwa3a |
T |
C |
7: 120,392,566 (GRCm39) |
Y802H |
probably damaging |
Het |
Zc3h4 |
G |
A |
7: 16,150,838 (GRCm39) |
R60Q |
possibly damaging |
Het |
Zfp385a |
A |
T |
15: 103,226,370 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dnali1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02624:Dnali1
|
APN |
4 |
124,952,791 (GRCm39) |
missense |
probably benign |
0.05 |
R0841:Dnali1
|
UTSW |
4 |
124,959,340 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1145:Dnali1
|
UTSW |
4 |
124,959,340 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2035:Dnali1
|
UTSW |
4 |
124,952,903 (GRCm39) |
missense |
probably damaging |
0.97 |
R4076:Dnali1
|
UTSW |
4 |
124,953,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R5699:Dnali1
|
UTSW |
4 |
124,952,843 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7584:Dnali1
|
UTSW |
4 |
124,959,331 (GRCm39) |
missense |
probably benign |
0.17 |
R8022:Dnali1
|
UTSW |
4 |
124,959,323 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8359:Dnali1
|
UTSW |
4 |
124,957,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R8843:Dnali1
|
UTSW |
4 |
124,957,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R9644:Dnali1
|
UTSW |
4 |
124,950,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACTTTCAGTGGCCGAGCCTAAG -3'
(R):5'- ACGCTAGGGGTCCAGTCTTCTTTAC -3'
Sequencing Primer
(F):5'- GTCCTCTAAGGTCATAGCTAGGC -3'
(R):5'- GGGTCCAGTCTTCTTTACTAAGAAAC -3'
|
Posted On |
2014-03-28 |