Incidental Mutation 'R5501:Dync1li2'
| ID |
430615 |
| 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 |
043062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R5501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105144312-105169679 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 105167104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041769]
[ENSMUST00000212148]
[ENSMUST00000212654]
|
| AlphaFold |
Q6PDL0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041769
|
| SMART Domains |
Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
| 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 |
probably null
Transcript: ENSMUST00000212230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212678
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.3%
|
| 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 |
|---|
| Adam26a |
A |
C |
8: 44,022,941 (GRCm39) |
L183* |
probably null |
Het |
| Alox12e |
G |
T |
11: 70,207,055 (GRCm39) |
Q584K |
probably benign |
Het |
| Atp1a4 |
A |
G |
1: 172,074,399 (GRCm39) |
S285P |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Col25a1 |
A |
G |
3: 130,389,312 (GRCm39) |
T632A |
probably benign |
Het |
| Coro6 |
T |
C |
11: 77,358,622 (GRCm39) |
F227S |
probably damaging |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,389,783 (GRCm39) |
D569G |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,064,800 (GRCm39) |
V508A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,820,061 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,488,471 (GRCm39) |
D452G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,225,565 (GRCm39) |
R1539G |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,941,364 (GRCm39) |
S86G |
probably benign |
Het |
| Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
| Ltb4r1 |
A |
G |
14: 56,005,539 (GRCm39) |
N281D |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,151,948 (GRCm39) |
S638P |
unknown |
Het |
| Mical1 |
G |
A |
10: 41,362,075 (GRCm39) |
A934T |
probably benign |
Het |
| Micu3 |
C |
A |
8: 40,807,341 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
T |
A |
2: 155,640,056 (GRCm39) |
Y129N |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,293,599 (GRCm39) |
Y14N |
probably damaging |
Het |
| Msmo1 |
A |
T |
8: 65,175,523 (GRCm39) |
I169N |
probably damaging |
Het |
| Mtrr |
G |
T |
13: 68,727,766 (GRCm39) |
T60K |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,230 (GRCm39) |
L180* |
probably null |
Het |
| Or5p6 |
G |
T |
7: 107,631,360 (GRCm39) |
Y63* |
probably null |
Het |
| Or7g30 |
T |
A |
9: 19,352,290 (GRCm39) |
I27N |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,768,090 (GRCm39) |
C8* |
probably null |
Het |
| Phrf1 |
T |
G |
7: 140,839,834 (GRCm39) |
S1169A |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,569 (GRCm39) |
T408A |
probably damaging |
Het |
| Plch1 |
G |
T |
3: 63,615,162 (GRCm39) |
Q778K |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,417 (GRCm39) |
V499A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,492,849 (GRCm39) |
S3736I |
possibly damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,909,915 (GRCm39) |
F11L |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Smcp |
A |
G |
3: 92,491,731 (GRCm39) |
C39R |
unknown |
Het |
| Sox9 |
T |
A |
11: 112,674,685 (GRCm39) |
L161Q |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,805,811 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Tmem131l |
G |
T |
3: 83,833,435 (GRCm39) |
N809K |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,032,908 (GRCm39) |
Y285C |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,011,804 (GRCm39) |
N98Y |
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 |
|
|
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'- TCAGGCACCAATAACTATTCTACAG -3'
(R):5'- ATGACTGGCTGTCTTTGCGC -3'
Sequencing Primer
(F):5'- CAGAGTAATATCTCTTGAGCGGTC -3'
(R):5'- GCAGAGCGATACATGGTATACTTTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation