Incidental Mutation 'R2394:Dync2li1'
| ID |
247933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2li1
|
| Ensembl Gene |
ENSMUSG00000024253 |
| Gene Name |
dynein cytoplasmic 2 light intermediate chain 1 |
| Synonyms |
4933404O11Rik, mD2LIC, LIC3, CGI-60, D2lic |
| MMRRC Submission |
040362-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84933924-84963016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84952175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 202
(I202K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025101]
|
| AlphaFold |
Q8K0T2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025101
AA Change: I202K
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253
AA Change: I202K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DLIC
|
2 |
179 |
3.3e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.8958 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (41/41) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
| Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
| Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
| Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
| Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
| Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
| Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
| Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
| Other mutations in Dync2li1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Dync2li1
|
APN |
17 |
84,952,154 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCTCTCCAGATGTGAACG -3'
(R):5'- CCTGGGCTTACAGACACAAG -3'
Sequencing Primer
(F):5'- CTCTCCAGATGTGAACGTGGAG -3'
(R):5'- CACAAGCCGTGGAAGGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation