Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03412:Dnal1'

421857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnal1

Ensembl Gene

ENSMUSG00000042523

Gene Name

dynein, axonemal, light chain 1

Synonyms

Dnal1, 1700010H15Rik, E330027P08Rik, Dnalc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03412

Quality Score

Status

Chromosome

Chromosomal Location

84161057-84190291 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 84182441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000121131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046340] [ENSMUST00000123491] [ENSMUST00000136159] [ENSMUST00000140812] [ENSMUST00000156138]

AlphaFold

Q05A62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046340
AA Change: M83K

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037076
Gene: ENSMUSG00000042523
AA Change: M83K

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 benign
Transcript: ENSMUST00000123491
AA Change: M122K

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523
AA Change: M122K

Domain	Start	End	E-Value	Type
Pfam:LRR_4	93	135	1.4e-8	PFAM

Predicted Effect

probably benign
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 null
Transcript: ENSMUST00000140812
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121131
Gene: ENSMUSG00000042523
AA Change: M1K

Domain	Start	End	E-Value	Type
PDB:1DS9\|A	1	55	9e-8	PDB
SCOP:d1dcea3	1	56	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143753

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,390 (GRCm39)	R736*	probably null	Het
Agpat2	T	C	2: 26,483,673 (GRCm39)	T255A	probably benign	Het
Akap3	G	A	6: 126,841,688 (GRCm39)	M102I	probably benign	Het
Cd300lb	C	A	11: 114,819,206 (GRCm39)	R5M	probably damaging	Het
Chrna5	A	T	9: 54,911,719 (GRCm39)	D69V	probably damaging	Het
Col9a1	G	A	1: 24,249,508 (GRCm39)		probably null	Het
Dnajb12	A	T	10: 59,725,895 (GRCm39)	H60L	probably benign	Het
Exoc7	C	T	11: 116,180,101 (GRCm39)	V655M	possibly damaging	Het
Fastkd3	A	G	13: 68,731,840 (GRCm39)	R54G	probably benign	Het
Fbln2	G	A	6: 91,248,763 (GRCm39)	D1143N	probably damaging	Het
Flii	C	T	11: 60,613,466 (GRCm39)	V174M	probably damaging	Het
Gtf2h4	T	C	17: 35,979,375 (GRCm39)	I388M	probably damaging	Het
Il20rb	A	G	9: 100,357,049 (GRCm39)	V27A	probably benign	Het
Kidins220	T	C	12: 25,049,344 (GRCm39)	S320P	probably damaging	Het
Kif1b	T	C	4: 149,359,396 (GRCm39)	S114G	probably benign	Het
Lama3	T	C	18: 12,552,239 (GRCm39)	V397A	probably damaging	Het
Man2a2	A	T	7: 80,016,746 (GRCm39)	V356D	probably damaging	Het
Mcpt9	T	G	14: 56,265,484 (GRCm39)	T72P	probably damaging	Het
Mmd	T	C	11: 90,148,429 (GRCm39)		probably null	Het
Mroh2b	G	A	15: 4,973,854 (GRCm39)	R1124Q	probably benign	Het
Mvp	T	C	7: 126,592,735 (GRCm39)	D392G	probably damaging	Het
Mycbpap	T	A	11: 94,398,927 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,080,395 (GRCm39)	H1203R	probably benign	Het
Nbeal1	T	A	1: 60,281,726 (GRCm39)	C816*	probably null	Het
Or4a70	T	A	2: 89,324,555 (GRCm39)	I34F	probably benign	Het
Or5an6	A	T	19: 12,371,743 (GRCm39)	T39S	probably damaging	Het
Pcdh12	C	T	18: 38,416,568 (GRCm39)	V186M	probably benign	Het
Pik3c2a	C	T	7: 116,017,074 (GRCm39)	E228K	probably benign	Het
Plcz1	A	C	6: 139,961,823 (GRCm39)	Y243D	probably damaging	Het
Rspo3	T	A	10: 29,411,270 (GRCm39)	I19F	possibly damaging	Het
Slc2a12	T	C	10: 22,540,868 (GRCm39)	L241P	probably damaging	Het
Slc4a10	G	A	2: 62,080,887 (GRCm39)		probably benign	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Sorcs2	T	C	5: 36,203,848 (GRCm39)	D549G	probably damaging	Het
Srsf12	G	A	4: 33,230,929 (GRCm39)	R141Q	probably damaging	Het
Stab1	T	G	14: 30,876,364 (GRCm39)	E908D	probably benign	Het
Stat6	A	T	10: 127,494,074 (GRCm39)	M634L	probably benign	Het
Tex21	A	G	12: 76,291,780 (GRCm39)		probably null	Het
Tsc2	C	A	17: 24,816,042 (GRCm39)	R1715L	probably damaging	Het
Ttll4	A	G	1: 74,726,480 (GRCm39)	I693V	probably benign	Het
Vmn1r5	A	T	6: 56,962,918 (GRCm39)	M198L	possibly damaging	Het
Vmn1r50	T	C	6: 90,085,007 (GRCm39)	Y251H	probably damaging	Het
Vmn2r59	A	G	7: 41,661,862 (GRCm39)	I651T	probably benign	Het
Wdr3	G	T	3: 100,059,293 (GRCm39)	T342K	probably benign	Het
Zbtb44	A	G	9: 30,964,763 (GRCm39)	T58A	probably benign	Het
Zeb2	A	G	2: 44,892,720 (GRCm39)		probably benign	Het
Zmym2	C	T	14: 57,197,176 (GRCm39)	Q1315*	probably null	Het
Zmym6	T	C	4: 126,986,731 (GRCm39)	I137T	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
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
R8365:Dnal1	UTSW	12	84,178,163 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02