Incidental Mutation 'R6727:Dync1li2'
| ID |
529910 |
| 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 |
044845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R6727 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105144312-105169679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105167167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 79
(H79Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041769]
[ENSMUST00000212148]
[ENSMUST00000212654]
|
| AlphaFold |
Q6PDL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041769
AA Change: H79Q
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
AA Change: H79Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DLIC
|
30 |
491 |
5.8e-264 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212148
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212230
AA Change: H6Q
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212654
AA Change: H79Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212678
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
A |
G |
5: 93,354,434 (GRCm39) |
|
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,896,760 (GRCm39) |
V283I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Allc |
T |
A |
12: 28,607,388 (GRCm39) |
H288L |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,576 (GRCm39) |
I279T |
possibly damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,728,857 (GRCm39) |
|
probably benign |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Brd8dc |
T |
A |
18: 34,713,894 (GRCm39) |
M244L |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,943,856 (GRCm39) |
D352V |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,781 (GRCm39) |
K122* |
probably null |
Het |
| Dnai1 |
G |
T |
4: 41,625,308 (GRCm39) |
R424L |
probably benign |
Het |
| Fem1b |
A |
G |
9: 62,704,015 (GRCm39) |
V415A |
possibly damaging |
Het |
| Fgb |
C |
T |
3: 82,954,094 (GRCm39) |
S48N |
possibly damaging |
Het |
| Gm5624 |
T |
C |
14: 44,799,332 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,403,432 (GRCm39) |
I226F |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,622 (GRCm39) |
V284E |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,683,902 (GRCm39) |
S184G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,193 (GRCm39) |
S272G |
probably damaging |
Het |
| Kcnk16 |
C |
T |
14: 20,312,997 (GRCm39) |
A106T |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,283,984 (GRCm39) |
V876A |
probably damaging |
Het |
| Large2 |
G |
T |
2: 92,201,215 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,847 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,464,851 (GRCm39) |
L533P |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,477,986 (GRCm39) |
|
probably null |
Het |
| Nova2 |
C |
A |
7: 18,692,419 (GRCm39) |
T516K |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,118 (GRCm39) |
N288K |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,285,094 (GRCm39) |
I71T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Ppp2r1a |
T |
A |
17: 21,176,087 (GRCm39) |
V103E |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,341,147 (GRCm39) |
|
probably null |
Het |
| Rhbdf1 |
G |
T |
11: 32,164,042 (GRCm39) |
A288E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,321,147 (GRCm39) |
S1202P |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,222,154 (GRCm39) |
V106A |
probably benign |
Het |
| Slc4a4 |
T |
G |
5: 89,318,624 (GRCm39) |
S640A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
| Tek |
G |
T |
4: 94,741,732 (GRCm39) |
G830* |
probably null |
Het |
| Tgfb1 |
A |
T |
7: 25,388,587 (GRCm39) |
|
probably benign |
Het |
| Themis |
T |
C |
10: 28,657,903 (GRCm39) |
I157T |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,514 (GRCm39) |
|
probably benign |
Het |
| Trrap |
T |
C |
5: 144,793,760 (GRCm39) |
W3654R |
probably damaging |
Het |
| Tspan3 |
C |
T |
9: 56,054,724 (GRCm39) |
G108S |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,979 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,770,829 (GRCm39) |
K2091E |
probably benign |
Het |
| Wdr62 |
A |
T |
7: 29,971,045 (GRCm39) |
V184D |
probably damaging |
Het |
| Zfp958 |
C |
A |
8: 4,678,247 (GRCm39) |
Q90K |
probably benign |
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 |
|
R6542:Dync1li2
|
UTSW |
8 |
105,169,396 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- AATGACATACATTTCACCCACTGTC -3'
(R):5'- AGTCACTCTTAAAAGCAGGTCTC -3'
Sequencing Primer
(F):5'- CCACTGTCTTTGGGTGTACC -3'
(R):5'- AAAAGCAGGTCTCCTTTGTTGATGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation