Incidental Mutation 'R6542:Dync1li2'
ID |
520846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync1li2
|
Ensembl Gene |
ENSMUSG00000035770 |
Gene Name |
dynein, cytoplasmic 1 light intermediate chain 2 |
Synonyms |
Dnclic2, Dncli2, Dlic2, LIC2 |
MMRRC Submission |
044668-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.265)
|
Stock # |
R6542 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105144312-105169679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 105169396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 13
(G13D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041769]
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000161520]
[ENSMUST00000212654]
[ENSMUST00000212148]
|
AlphaFold |
Q6PDL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041769
AA Change: G13D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000045480 Gene: ENSMUSG00000035770 AA Change: G13D
Domain | Start | End | E-Value | Type |
Pfam:DLIC
|
30 |
491 |
5.8e-264 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064576
|
SMART Domains |
Protein: ENSMUSP00000067324 Gene: ENSMUSG00000052616
Domain | Start | End | E-Value | Type |
SCOP:d1ee4a_
|
2 |
368 |
7e-11 |
SMART |
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
low complexity region
|
536 |
545 |
N/A |
INTRINSIC |
SANT
|
711 |
762 |
7.07e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159713
|
SMART Domains |
Protein: ENSMUSP00000124706 Gene: ENSMUSG00000052616
Domain | Start | End | E-Value | Type |
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161520
|
SMART Domains |
Protein: ENSMUSP00000125431 Gene: ENSMUSG00000052616
Domain | Start | End | E-Value | Type |
SCOP:d1qgra_
|
10 |
336 |
2e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162014
|
SMART Domains |
Protein: ENSMUSP00000123925 Gene: ENSMUSG00000052616
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
21 |
370 |
7e-8 |
SMART |
low complexity region
|
382 |
394 |
N/A |
INTRINSIC |
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
low complexity region
|
688 |
695 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211804
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211969
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212654
AA Change: G13D
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212678
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212040
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211988
|
Meta Mutation Damage Score |
0.0621 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
Apbb1ip |
C |
T |
2: 22,764,972 (GRCm39) |
T551I |
probably benign |
Het |
Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,426,915 (GRCm39) |
|
probably benign |
Het |
F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
Mmp10 |
G |
A |
9: 7,506,513 (GRCm39) |
A330T |
probably benign |
Het |
Mto1 |
T |
A |
9: 78,364,510 (GRCm39) |
C281S |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
Septin2 |
T |
A |
1: 93,425,188 (GRCm39) |
|
probably null |
Het |
Setdb1 |
C |
A |
3: 95,247,618 (GRCm39) |
V426L |
probably damaging |
Het |
Slc8b1 |
C |
T |
5: 120,667,582 (GRCm39) |
A405V |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
probably 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 |
IGL01143:Dync1li2
|
APN |
8 |
105,156,085 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACAAGAGTGGTCAGCGC -3'
(R):5'- GTCTAGCTTGAGTTCATTCCAAAGC -3'
Sequencing Primer
(F):5'- ACCGCCTAGGACCGCTC -3'
(R):5'- AAAGCTTGGACTTGCCGCATC -3'
|
Posted On |
2018-06-06 |