Incidental Mutation 'R5922:Dnal1'
| ID |
461644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnal1
|
| Ensembl Gene |
ENSMUSG00000042523 |
| Gene Name |
dynein, axonemal, light chain 1 |
| Synonyms |
Dnal1, 1700010H15Rik, E330027P08Rik, Dnalc1 |
| MMRRC Submission |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84161057-84190291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84173746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 55
(L55M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046340]
[ENSMUST00000123491]
[ENSMUST00000136159]
[ENSMUST00000156138]
|
| AlphaFold |
Q05A62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046340
AA Change: L16M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037076
Gene: ENSMUSG00000042523
AA Change: L16M
| 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 damaging
Transcript: ENSMUST00000123491
AA Change: L55M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523
AA Change: L55M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
93 |
135 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136159
AA Change: L55M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123497
Gene: ENSMUSG00000042523
AA Change: L55M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DS9|A
|
1 |
98 |
3e-28 |
PDB |
|
SCOP:d1h6ta2
|
11 |
88 |
5e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143753
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156138
AA Change: P68H
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118584
Gene: ENSMUSG00000042523
AA Change: P68H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1M9L|A
|
1 |
50 |
1e-11 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
probably benign |
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 |
|
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 |
|
R8365:Dnal1
|
UTSW |
12 |
84,178,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAATTGCCCTTTAGTGGTTTG -3'
(R):5'- GTTTACATACAGACTCCATCACCTG -3'
Sequencing Primer
(F):5'- GCCCTTTAGTGGTTTGTTTTTAATTC -3'
(R):5'- CCTGACATTTACTGTGGTCACAACAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation