Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Dnal1'

476227

Institutional Source

Beutler Lab

Gene Symbol

Dnal1

Ensembl Gene

ENSMUSG00000042523

Gene Name

dynein, axonemal, light chain 1

Synonyms

Dnal1, 1700010H15Rik, E330027P08Rik, Dnalc1

MMRRC Submission

040383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84161057-84190291 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 84183480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 80 (Q80*)

Ref Sequence

ENSEMBL: ENSMUSP00000121131 (fasta)

Gene Model

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

AlphaFold

Q05A62

Predicted Effect

probably benign
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 benign
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 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: Q80*

SMART Domains

Protein: ENSMUSP00000121131
Gene: ENSMUSG00000042523
AA Change: Q80*

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

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,386,166 (GRCm39)	L1118Q	probably damaging	Het
Adgre4	A	G	17: 56,085,872 (GRCm39)	E57G	probably benign	Het
Alpk2	T	C	18: 65,439,687 (GRCm39)	S1036G	probably benign	Het
Ank3	T	C	10: 69,818,034 (GRCm39)		probably benign	Het
Ankfy1	T	A	11: 72,646,722 (GRCm39)		probably benign	Het
Antxrl	A	G	14: 33,793,646 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,856,585 (GRCm39)	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,609,346 (GRCm39)	T1025S	probably damaging	Het
Arhgef12	A	T	9: 42,912,302 (GRCm39)	C519S	probably damaging	Het
Aspm	G	A	1: 139,416,225 (GRCm39)	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,168,643 (GRCm39)	T449A	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,574,064 (GRCm39)	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,329,103 (GRCm39)		probably benign	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,647,996 (GRCm39)		probably benign	Het
Coq10b	G	A	1: 55,092,136 (GRCm39)	A35T	probably benign	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Creb3l3	T	C	10: 80,927,652 (GRCm39)	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,914,160 (GRCm39)	I15N	probably benign	Het
Dcp1b	A	G	6: 119,192,227 (GRCm39)	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Dtd2	A	G	12: 52,046,638 (GRCm39)	V67A	probably benign	Het
Gart	A	G	16: 91,439,928 (GRCm39)		probably null	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,577,958 (GRCm39)		noncoding transcript	Het
Gm8674	T	C	13: 50,054,699 (GRCm39)		noncoding transcript	Het
Gpr107	G	A	2: 31,075,541 (GRCm39)	G351S	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lenep	G	A	3: 89,309,881 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 40,772,145 (GRCm39)		probably benign	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787 (GRCm39)	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621 (GRCm39)	I2519K	probably damaging	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,432,061 (GRCm39)	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or13a1	T	A	6: 116,470,674 (GRCm39)	C35S	probably benign	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5k8	T	C	16: 58,644,709 (GRCm39)	D121G	probably damaging	Het
Pef1	C	A	4: 130,021,110 (GRCm39)	C221*	probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,732,517 (GRCm39)	I460N	probably benign	Het
Ppfia4	T	C	1: 134,255,138 (GRCm39)	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Prlr	T	A	15: 10,319,343 (GRCm39)	W91R	probably damaging	Het
Psmd2	T	A	16: 20,478,856 (GRCm39)		probably null	Het
Ptprt	T	A	2: 162,119,960 (GRCm39)		probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Rbm12b2	T	C	4: 12,095,127 (GRCm39)	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,163,057 (GRCm39)	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,606,123 (GRCm39)	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,556,646 (GRCm39)		probably benign	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Syt9	G	A	7: 107,035,988 (GRCm39)	R335K	probably benign	Het
Taar7a	T	C	10: 23,868,415 (GRCm39)	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,361,231 (GRCm39)	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyw1	A	T	5: 130,298,101 (GRCm39)	H214L	probably damaging	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vangl2	T	C	1: 171,835,526 (GRCm39)	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Vps13a	T	G	19: 16,737,035 (GRCm39)	I101L	probably benign	Het
Washc4	T	A	10: 83,415,385 (GRCm39)	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,496,041 (GRCm39)	H608Y	probably benign	Het
Wdr48	T	A	9: 119,731,470 (GRCm39)	I56K	probably damaging	Het
Xpo4	T	C	14: 57,866,960 (GRCm39)	D194G	probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp821	T	A	8: 110,436,165 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,769,525 (GRCm39)	Y1237C	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
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

Predicted Primers

Posted On

2017-05-11