Incidental Mutation 'IGL00329:Dync2li1'
| ID |
3411 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dync2li1
|
| Ensembl Gene |
ENSMUSG00000024253 |
| Gene Name |
dynein cytoplasmic 2 light intermediate chain 1 |
| Synonyms |
4933404O11Rik, mD2LIC, LIC3, CGI-60, D2lic |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
84933924-84963016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84952154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 195
(D195G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025101]
|
| AlphaFold |
Q8K0T2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025101
AA Change: D195G
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253
AA Change: D195G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DLIC
|
2 |
179 |
3.3e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for disruptions in this allele die before embryonic day 11.5. They display neural tube defects in addition to a variety developmental patterning abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,123,911 (GRCm39) |
N72S |
probably benign |
Het |
| Aopep |
T |
A |
13: 63,338,977 (GRCm39) |
I623N |
probably damaging |
Het |
| Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
| Arcn1 |
C |
A |
9: 44,670,333 (GRCm39) |
E98* |
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Col28a1 |
G |
T |
6: 8,175,425 (GRCm39) |
T141K |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,802,222 (GRCm39) |
F811S |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,269 (GRCm39) |
I186K |
probably damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,855 (GRCm39) |
V276A |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,313,070 (GRCm39) |
E704G |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,829,301 (GRCm39) |
|
probably benign |
Het |
| Gm2178 |
C |
A |
14: 26,235,767 (GRCm39) |
|
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Herc2 |
T |
A |
7: 55,774,047 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,759 (GRCm39) |
E290G |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,595,725 (GRCm39) |
V157A |
probably benign |
Het |
| Krt72 |
T |
A |
15: 101,693,434 (GRCm39) |
Q160L |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,081 (GRCm39) |
K129E |
possibly damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,379 (GRCm39) |
Y200C |
probably damaging |
Het |
| Mme |
G |
A |
3: 63,287,749 (GRCm39) |
W750* |
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,761 (GRCm39) |
P139L |
probably damaging |
Het |
| Nrtn |
C |
A |
17: 57,058,569 (GRCm39) |
R144L |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,299 (GRCm39) |
P58T |
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,198 (GRCm39) |
|
probably benign |
Het |
| Pdgfa |
T |
A |
5: 138,974,216 (GRCm39) |
|
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,666 (GRCm39) |
V233A |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,078,474 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
T |
10: 78,039,711 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,216,288 (GRCm39) |
T380A |
probably benign |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,049 (GRCm39) |
S132T |
probably benign |
Het |
|
| Other mutations in Dync2li1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Dync2li1
|
APN |
17 |
84,956,668 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01450:Dync2li1
|
APN |
17 |
84,940,984 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01610:Dync2li1
|
APN |
17 |
84,935,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Dync2li1
|
UTSW |
17 |
84,962,768 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0883:Dync2li1
|
UTSW |
17 |
84,956,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1499:Dync2li1
|
UTSW |
17 |
84,954,667 (GRCm39) |
splice site |
probably benign |
|
|
R1823:Dync2li1
|
UTSW |
17 |
84,957,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2164:Dync2li1
|
UTSW |
17 |
84,943,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Dync2li1
|
UTSW |
17 |
84,952,175 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2443:Dync2li1
|
UTSW |
17 |
84,955,093 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3901:Dync2li1
|
UTSW |
17 |
84,939,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4151:Dync2li1
|
UTSW |
17 |
84,935,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4934:Dync2li1
|
UTSW |
17 |
84,956,683 (GRCm39) |
missense |
probably benign |
|
|
R4960:Dync2li1
|
UTSW |
17 |
84,940,969 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5340:Dync2li1
|
UTSW |
17 |
84,957,130 (GRCm39) |
splice site |
probably null |
|
|
R5841:Dync2li1
|
UTSW |
17 |
84,940,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Dync2li1
|
UTSW |
17 |
84,955,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7331:Dync2li1
|
UTSW |
17 |
84,955,086 (GRCm39) |
nonsense |
probably null |
|
|
R7447:Dync2li1
|
UTSW |
17 |
84,955,141 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8492:Dync2li1
|
UTSW |
17 |
84,957,134 (GRCm39) |
splice site |
probably null |
|
|
R8827:Dync2li1
|
UTSW |
17 |
84,955,079 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9228:Dync2li1
|
UTSW |
17 |
84,957,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9231:Dync2li1
|
UTSW |
17 |
84,935,819 (GRCm39) |
missense |
probably null |
0.19 |
|
| Posted On |
2012-04-20 |
Incidental Mutation