Incidental Mutation 'R5218:Dync1li2'
| ID |
472451 |
| 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 |
042791-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R5218 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105144312-105169679 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 105169179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 36
(W36*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041769]
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000161520]
[ENSMUST00000212654]
[ENSMUST00000212148]
|
| AlphaFold |
Q6PDL0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041769
AA Change: W36*
|
| SMART Domains |
Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
AA Change: W36*
| 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: ENSMUST00000211804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211988
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212654
AA Change: W36*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212148
AA Change: W17*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212230
|
| Meta Mutation Damage Score |
0.9717 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,628 (GRCm39) |
N230K |
possibly damaging |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| Albfm1 |
A |
G |
5: 90,729,777 (GRCm39) |
K400R |
probably benign |
Het |
| Amigo1 |
A |
G |
3: 108,095,086 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
A |
T |
1: 171,236,328 (GRCm39) |
T901S |
probably benign |
Het |
| Arpp21 |
T |
C |
9: 111,972,499 (GRCm39) |
D264G |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,216,229 (GRCm39) |
G165S |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,816,585 (GRCm39) |
D1786G |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,237,430 (GRCm39) |
L1008P |
unknown |
Het |
| Dclk2 |
T |
A |
3: 86,712,985 (GRCm39) |
D489V |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,177 (GRCm39) |
D259E |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,327,333 (GRCm39) |
S1184G |
possibly damaging |
Het |
| Ece2 |
A |
T |
16: 20,437,290 (GRCm39) |
M211L |
probably benign |
Het |
| Edn3 |
C |
T |
2: 174,603,345 (GRCm39) |
A31V |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,750,982 (GRCm39) |
Q266R |
possibly damaging |
Het |
| Fabp1 |
C |
A |
6: 71,176,944 (GRCm39) |
Q12K |
probably damaging |
Het |
| Flt1 |
G |
A |
5: 147,618,738 (GRCm39) |
T199M |
probably damaging |
Het |
| Galns |
T |
A |
8: 123,325,328 (GRCm39) |
I275F |
probably damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
| Gatb |
A |
G |
3: 85,511,751 (GRCm39) |
I169V |
probably benign |
Het |
| Gpd1 |
T |
A |
15: 99,618,011 (GRCm39) |
I109N |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,121 (GRCm39) |
|
probably null |
Het |
| Hsd17b12 |
T |
C |
2: 93,913,608 (GRCm39) |
N99D |
probably benign |
Het |
| Itga3 |
A |
T |
11: 94,953,574 (GRCm39) |
V256E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,513,253 (GRCm39) |
Y527F |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,384,488 (GRCm39) |
E3580D |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Medag |
A |
T |
5: 149,345,719 (GRCm39) |
|
probably benign |
Het |
| Ncdn |
C |
A |
4: 126,644,603 (GRCm39) |
R73L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,170,034 (GRCm39) |
V339A |
probably benign |
Het |
| Ocln |
G |
T |
13: 100,642,822 (GRCm39) |
P420Q |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,270 (GRCm39) |
S265T |
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,185 (GRCm39) |
T681I |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,388 (GRCm39) |
V103E |
possibly damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,036 (GRCm39) |
F469S |
probably benign |
Het |
| Phrf1 |
A |
G |
7: 140,841,214 (GRCm39) |
N1353S |
possibly damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,326,586 (GRCm39) |
I72T |
probably damaging |
Het |
| Ppig |
T |
C |
2: 69,563,127 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,600,919 (GRCm39) |
S153G |
probably benign |
Het |
| Rab11b |
T |
C |
17: 33,967,924 (GRCm39) |
N91S |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Slc2a9 |
A |
G |
5: 38,610,524 (GRCm39) |
S92P |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,575,002 (GRCm39) |
|
probably null |
Het |
| Sox5 |
T |
C |
6: 143,906,616 (GRCm39) |
I280V |
possibly damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 112,029,909 (GRCm39) |
|
probably benign |
Het |
| Tmem273 |
T |
A |
14: 32,538,793 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,730,640 (GRCm39) |
N134K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl1 |
T |
G |
18: 63,812,538 (GRCm39) |
K85N |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,451,341 (GRCm39) |
M409K |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,274,812 (GRCm39) |
D53G |
probably damaging |
Het |
| Wnt10a |
G |
A |
1: 74,832,754 (GRCm39) |
V116I |
probably benign |
Het |
| Xpot |
T |
A |
10: 121,455,043 (GRCm39) |
D33V |
probably damaging |
Het |
| Znrf3 |
C |
T |
11: 5,231,519 (GRCm39) |
V665M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAGACTCAGCAGCTACC -3'
(R):5'- CTGGATAACGGAGCTTCTGC -3'
Sequencing Primer
(F):5'- AGCTACCCTGCCAGAGTC -3'
(R):5'- GCCCTCTTTGTGGCTGCAG -3'
|
| Posted On |
2017-04-03 |
Incidental Mutation