Incidental Mutation 'R8365:Dnal1'
| ID |
646150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnal1
|
| Ensembl Gene |
ENSMUSG00000042523 |
| Gene Name |
dynein, axonemal, light chain 1 |
| Synonyms |
Dnal1, 1700010H15Rik, E330027P08Rik, Dnalc1 |
| MMRRC Submission |
067736-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84161057-84190291 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 84178163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046340]
[ENSMUST00000123491]
[ENSMUST00000136159]
[ENSMUST00000140812]
[ENSMUST00000156138]
|
| AlphaFold |
Q05A62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046340
|
| SMART Domains |
Protein: ENSMUSP00000037076
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_1
|
32 |
52 |
8.1e-2 |
PFAM |
|
Pfam:LRR_4
|
54 |
96 |
3.4e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123491
|
| SMART Domains |
Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
93 |
135 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136159
|
| SMART Domains |
Protein: ENSMUSP00000123497
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DS9|A
|
1 |
98 |
3e-28 |
PDB |
|
SCOP:d1h6ta2
|
11 |
88 |
5e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140812
|
| SMART Domains |
Protein: ENSMUSP00000121131
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DS9|A
|
1 |
55 |
9e-8 |
PDB |
|
SCOP:d1dcea3
|
1 |
56 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156138
|
| SMART Domains |
Protein: ENSMUSP00000118584
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1M9L|A
|
1 |
50 |
1e-11 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,557,918 (GRCm39) |
C79* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,544,798 (GRCm39) |
S1430T |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,398,378 (GRCm39) |
K1724R |
possibly damaging |
Het |
| Brf2 |
A |
G |
8: 27,618,566 (GRCm39) |
S13P |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,263,000 (GRCm39) |
K18* |
probably null |
Het |
| Cym |
T |
G |
3: 107,120,182 (GRCm39) |
I306L |
probably benign |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,048 (GRCm39) |
H343L |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,874 (GRCm39) |
Y62C |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,570 (GRCm39) |
S533P |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,902 (GRCm39) |
Y619C |
probably damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,502,277 (GRCm39) |
M914K |
probably damaging |
Het |
| Epb41l2 |
C |
A |
10: 25,317,584 (GRCm39) |
Q34K |
probably benign |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,980,739 (GRCm39) |
I238S |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,307,727 (GRCm39) |
K204E |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,303,434 (GRCm39) |
S279L |
probably benign |
Het |
| Hhatl |
A |
G |
9: 121,618,931 (GRCm39) |
M67T |
probably damaging |
Het |
| Itpkc |
C |
A |
7: 26,911,777 (GRCm39) |
R598L |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,329 (GRCm39) |
N73K |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 57,998,311 (GRCm39) |
I263N |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,138,528 (GRCm39) |
M3002K |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,709 (GRCm39) |
S588T |
possibly damaging |
Het |
| Pcdh8 |
T |
A |
14: 80,008,426 (GRCm39) |
I46F |
probably damaging |
Het |
| Prdm6 |
T |
C |
18: 53,685,137 (GRCm39) |
V392A |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,743,451 (GRCm39) |
I497F |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,282,366 (GRCm39) |
H22R |
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,246,241 (GRCm39) |
I777V |
possibly damaging |
Het |
| Shroom1 |
A |
T |
11: 53,356,468 (GRCm39) |
R444* |
probably null |
Het |
| Srcap |
C |
T |
7: 127,148,869 (GRCm39) |
T2030I |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,793,695 (GRCm39) |
S94P |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,054,669 (GRCm39) |
T325I |
probably damaging |
Het |
| Ucp1 |
A |
C |
8: 84,020,628 (GRCm39) |
H146P |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,200 (GRCm39) |
I272N |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,034 (GRCm39) |
S127P |
possibly damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,791,145 (GRCm39) |
D61G |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,227 (GRCm39) |
C241S |
probably damaging |
Het |
|
| Other mutations in Dnal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02683:Dnal1
|
APN |
12 |
84,185,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02811:Dnal1
|
APN |
12 |
84,178,166 (GRCm39) |
splice site |
probably null |
|
|
IGL03412:Dnal1
|
APN |
12 |
84,182,441 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R2421:Dnal1
|
UTSW |
12 |
84,183,480 (GRCm39) |
nonsense |
probably null |
|
|
R4591:Dnal1
|
UTSW |
12 |
84,180,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4667:Dnal1
|
UTSW |
12 |
84,183,474 (GRCm39) |
intron |
probably benign |
|
|
R5352:Dnal1
|
UTSW |
12 |
84,183,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5922:Dnal1
|
UTSW |
12 |
84,173,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7334:Dnal1
|
UTSW |
12 |
84,173,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Dnal1
|
UTSW |
12 |
84,171,297 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7529:Dnal1
|
UTSW |
12 |
84,178,117 (GRCm39) |
missense |
probably benign |
|
|
R7585:Dnal1
|
UTSW |
12 |
84,171,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8169:Dnal1
|
UTSW |
12 |
84,171,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGTCAATTAGCCTTCAAAC -3'
(R):5'- TCCTGGTTACAAAGCACTGG -3'
Sequencing Primer
(F):5'- GAACTCAGGTCTTCAAGCTTGGC -3'
(R):5'- CACTGGGAATATAAGTGGCCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation