Incidental Mutation 'R2912:Dync1li1'
| ID |
261311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1li1
|
| Ensembl Gene |
ENSMUSG00000032435 |
| Gene Name |
dynein cytoplasmic 1 light intermediate chain 1 |
| Synonyms |
1110053F02Rik, LIC-1, Dlic1, Dnclic1 |
| MMRRC Submission |
040499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R2912 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114517899-114552856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 114544743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 348
(N348K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047404]
|
| AlphaFold |
Q8R1Q8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047404
AA Change: N348K
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: N348K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DLIC
|
43 |
519 |
2.7e-258 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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 belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit increased anxiety-related response, increased dendrite length, increased neuron migration, and decreased lysosome trafficking. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
T |
11: 69,020,866 (GRCm39) |
K197M |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,524,517 (GRCm39) |
K182E |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,999,201 (GRCm39) |
D4643G |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,586,139 (GRCm39) |
D41G |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
T |
C |
2: 91,817,398 (GRCm39) |
T372A |
possibly damaging |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,072,109 (GRCm39) |
E251G |
probably damaging |
Het |
| Dnajc27 |
C |
T |
12: 4,146,280 (GRCm39) |
S103L |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,092,571 (GRCm39) |
S504P |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,488 (GRCm39) |
D1321G |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,425 (GRCm39) |
N406S |
probably benign |
Het |
| Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
| Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
| Kcnq2 |
A |
G |
2: 180,723,567 (GRCm39) |
V603A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,876,799 (GRCm39) |
S2716G |
probably benign |
Het |
| Lax1 |
A |
G |
1: 133,611,791 (GRCm39) |
V48A |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,187,210 (GRCm39) |
L188P |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,743 (GRCm39) |
T372A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,817,815 (GRCm39) |
S307G |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
| Nherf2 |
C |
T |
17: 24,861,215 (GRCm39) |
G71S |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,308,595 (GRCm39) |
S474P |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,003,956 (GRCm39) |
D644A |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,898 (GRCm39) |
I47T |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
| Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,512 (GRCm39) |
Y259H |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,954,024 (GRCm39) |
I660V |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,215,654 (GRCm39) |
P52S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,106,177 (GRCm39) |
S206P |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,594,226 (GRCm39) |
D382G |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,221,551 (GRCm39) |
S2763P |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,821,688 (GRCm39) |
M294V |
probably benign |
Het |
| Zfp467 |
C |
A |
6: 48,416,010 (GRCm39) |
R214L |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,403,153 (GRCm39) |
A532S |
probably benign |
Het |
| Zscan4d |
G |
A |
7: 10,896,614 (GRCm39) |
P252L |
probably benign |
Het |
|
| Other mutations in Dync1li1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Dync1li1
|
APN |
9 |
114,549,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1510:Dync1li1
|
UTSW |
9 |
114,518,278 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1824:Dync1li1
|
UTSW |
9 |
114,538,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1955:Dync1li1
|
UTSW |
9 |
114,550,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2000:Dync1li1
|
UTSW |
9 |
114,542,631 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2520:Dync1li1
|
UTSW |
9 |
114,518,074 (GRCm39) |
missense |
probably null |
0.17 |
|
R4418:Dync1li1
|
UTSW |
9 |
114,535,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Dync1li1
|
UTSW |
9 |
114,538,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Dync1li1
|
UTSW |
9 |
114,538,237 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4693:Dync1li1
|
UTSW |
9 |
114,535,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4817:Dync1li1
|
UTSW |
9 |
114,534,162 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5027:Dync1li1
|
UTSW |
9 |
114,542,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5274:Dync1li1
|
UTSW |
9 |
114,544,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5363:Dync1li1
|
UTSW |
9 |
114,544,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5902:Dync1li1
|
UTSW |
9 |
114,546,929 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6359:Dync1li1
|
UTSW |
9 |
114,542,638 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7235:Dync1li1
|
UTSW |
9 |
114,544,231 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7757:Dync1li1
|
UTSW |
9 |
114,538,345 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8161:Dync1li1
|
UTSW |
9 |
114,535,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Dync1li1
|
UTSW |
9 |
114,538,253 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8703:Dync1li1
|
UTSW |
9 |
114,552,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8733:Dync1li1
|
UTSW |
9 |
114,534,178 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9211:Dync1li1
|
UTSW |
9 |
114,518,012 (GRCm39) |
nonsense |
probably null |
|
|
R9307:Dync1li1
|
UTSW |
9 |
114,535,076 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCGCTGTACCTAGTGCTC -3'
(R):5'- TGTCTGCAAAGATGGACGTGC -3'
Sequencing Primer
(F):5'- GCTGTACCTAGTGCTCTGCTC -3'
(R):5'- GACTGAGTAGTCGCCTGATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation