Incidental Mutation 'IGL01143:Dync1li2'
ID |
51830 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dync1li2
|
Ensembl Gene |
ENSMUSG00000035770 |
Gene Name |
dynein, cytoplasmic 1 light intermediate chain 2 |
Synonyms |
Dnclic2, Dncli2, Dlic2, LIC2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.265)
|
Stock # |
IGL01143
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105144312-105169679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105156085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 252
(D252G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041769]
[ENSMUST00000212654]
|
AlphaFold |
Q6PDL0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041769
AA Change: D252G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000045480 Gene: ENSMUSG00000035770 AA Change: D252G
Domain | Start | End | E-Value | Type |
Pfam:DLIC
|
30 |
491 |
5.8e-264 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212040
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212230
AA Change: D179G
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212654
AA Change: D252G
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
A |
T |
10: 85,490,335 (GRCm39) |
|
probably benign |
Het |
Adgrl4 |
A |
G |
3: 151,205,866 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
C |
13: 81,567,470 (GRCm39) |
D5234E |
probably benign |
Het |
Bmp7 |
G |
T |
2: 172,721,275 (GRCm39) |
H267N |
probably benign |
Het |
Ccdc113 |
T |
C |
8: 96,260,888 (GRCm39) |
V30A |
probably damaging |
Het |
Ccdc185 |
A |
T |
1: 182,575,417 (GRCm39) |
L424Q |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,937,445 (GRCm39) |
D58E |
probably damaging |
Het |
Ces1f |
C |
T |
8: 93,998,458 (GRCm39) |
|
probably null |
Het |
Chaf1a |
T |
A |
17: 56,370,336 (GRCm39) |
D600E |
possibly damaging |
Het |
Cndp2 |
A |
G |
18: 84,695,442 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
A |
12: 117,976,475 (GRCm39) |
D2727V |
probably damaging |
Het |
Ephx2 |
C |
T |
14: 66,326,971 (GRCm39) |
R408Q |
probably damaging |
Het |
Fat1 |
C |
A |
8: 45,488,569 (GRCm39) |
T3427K |
possibly damaging |
Het |
Gal3st4 |
A |
G |
5: 138,269,664 (GRCm39) |
M1T |
probably null |
Het |
Gm5828 |
T |
C |
1: 16,840,172 (GRCm39) |
|
noncoding transcript |
Het |
Gm7694 |
C |
T |
1: 170,130,394 (GRCm39) |
M1I |
probably null |
Het |
Gpatch1 |
A |
G |
7: 35,000,997 (GRCm39) |
|
probably benign |
Het |
Grik1 |
G |
T |
16: 87,754,488 (GRCm39) |
|
probably null |
Het |
Gtf2ird2 |
A |
G |
5: 134,225,394 (GRCm39) |
T161A |
possibly damaging |
Het |
Hk2 |
T |
C |
6: 82,706,533 (GRCm39) |
I790V |
possibly damaging |
Het |
Ints9 |
G |
A |
14: 65,274,870 (GRCm39) |
V609I |
probably benign |
Het |
Kcnq4 |
T |
G |
4: 120,555,820 (GRCm39) |
D585A |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,196,684 (GRCm39) |
Y464C |
probably damaging |
Het |
Lpar6 |
G |
A |
14: 73,476,077 (GRCm39) |
D13N |
probably damaging |
Het |
Morn1 |
T |
C |
4: 155,176,761 (GRCm39) |
Y132H |
probably damaging |
Het |
Nphp1 |
C |
T |
2: 127,622,056 (GRCm39) |
V24I |
probably benign |
Het |
Or5b104 |
A |
T |
19: 13,072,476 (GRCm39) |
F179I |
probably damaging |
Het |
Or5w17 |
T |
C |
2: 87,584,278 (GRCm39) |
N20D |
probably benign |
Het |
Or8b1c |
G |
T |
9: 38,384,338 (GRCm39) |
M98I |
possibly damaging |
Het |
Pcdhb13 |
T |
C |
18: 37,575,690 (GRCm39) |
W23R |
probably benign |
Het |
Plekhg3 |
T |
C |
12: 76,611,756 (GRCm39) |
|
probably null |
Het |
Slx4 |
T |
C |
16: 3,808,752 (GRCm39) |
K396R |
probably benign |
Het |
Snx13 |
A |
G |
12: 35,182,159 (GRCm39) |
D736G |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,846,614 (GRCm39) |
D46G |
probably benign |
Het |
Spata31 |
T |
G |
13: 65,068,630 (GRCm39) |
Y259* |
probably null |
Het |
Synj1 |
T |
C |
16: 90,748,864 (GRCm39) |
E1064G |
probably damaging |
Het |
Tom1 |
A |
G |
8: 75,785,085 (GRCm39) |
T81A |
probably benign |
Het |
Ttc23l |
A |
G |
15: 10,530,775 (GRCm39) |
I279T |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,300,010 (GRCm39) |
|
probably null |
Het |
Vmn2r108 |
C |
A |
17: 20,682,727 (GRCm39) |
A826S |
possibly damaging |
Het |
Zyg11b |
A |
T |
4: 108,102,191 (GRCm39) |
V510E |
possibly damaging |
Het |
|
Other mutations in Dync1li2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00987:Dync1li2
|
APN |
8 |
105,169,130 (GRCm39) |
missense |
possibly damaging |
0.95 |
E0354:Dync1li2
|
UTSW |
8 |
105,152,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R0102:Dync1li2
|
UTSW |
8 |
105,154,757 (GRCm39) |
missense |
probably benign |
0.00 |
R0102:Dync1li2
|
UTSW |
8 |
105,154,757 (GRCm39) |
missense |
probably benign |
0.00 |
R0555:Dync1li2
|
UTSW |
8 |
105,147,297 (GRCm39) |
missense |
probably benign |
|
R0784:Dync1li2
|
UTSW |
8 |
105,169,130 (GRCm39) |
missense |
probably damaging |
0.99 |
R1532:Dync1li2
|
UTSW |
8 |
105,152,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1632:Dync1li2
|
UTSW |
8 |
105,164,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R2877:Dync1li2
|
UTSW |
8 |
105,156,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R2878:Dync1li2
|
UTSW |
8 |
105,156,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Dync1li2
|
UTSW |
8 |
105,149,775 (GRCm39) |
missense |
probably damaging |
0.96 |
R4380:Dync1li2
|
UTSW |
8 |
105,154,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R5050:Dync1li2
|
UTSW |
8 |
105,164,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5218:Dync1li2
|
UTSW |
8 |
105,169,179 (GRCm39) |
nonsense |
probably null |
|
R5501:Dync1li2
|
UTSW |
8 |
105,167,104 (GRCm39) |
critical splice donor site |
probably null |
|
R5628:Dync1li2
|
UTSW |
8 |
105,147,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6542:Dync1li2
|
UTSW |
8 |
105,169,396 (GRCm39) |
missense |
probably benign |
0.09 |
R6727:Dync1li2
|
UTSW |
8 |
105,167,167 (GRCm39) |
missense |
probably damaging |
0.98 |
R7384:Dync1li2
|
UTSW |
8 |
105,169,175 (GRCm39) |
missense |
probably benign |
0.06 |
R7627:Dync1li2
|
UTSW |
8 |
105,156,140 (GRCm39) |
missense |
probably benign |
0.30 |
R7796:Dync1li2
|
UTSW |
8 |
105,157,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Dync1li2
|
UTSW |
8 |
105,152,090 (GRCm39) |
missense |
probably benign |
0.01 |
R9178:Dync1li2
|
UTSW |
8 |
105,150,255 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9468:Dync1li2
|
UTSW |
8 |
105,147,258 (GRCm39) |
missense |
probably benign |
0.25 |
R9594:Dync1li2
|
UTSW |
8 |
105,154,752 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2013-06-21 |