Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01826:Odad1'

154672

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Odad1

Ensembl Gene

ENSMUSG00000040189

Gene Name

outer dynein arm docking complex subunit 1

Synonyms

Ccdc114

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01826

Quality Score

Status

Chromosome

Chromosomal Location

45573496-45598387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45597810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 573 (S573R)

Ref Sequence

ENSEMBL: ENSMUSP00000042772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038720] [ENSMUST00000210867]

AlphaFold

Q3UX62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038720
AA Change: S573R

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: S573R

Domain	Start	End	E-Value	Type
coiled coil region	11	94	N/A	INTRINSIC
coiled coil region	137	156	N/A	INTRINSIC
low complexity region	174	185	N/A	INTRINSIC
coiled coil region	195	229	N/A	INTRINSIC
coiled coil region	303	380	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	504	519	N/A	INTRINSIC
low complexity region	558	588	N/A	INTRINSIC
low complexity region	592	604	N/A	INTRINSIC
low complexity region	621	656	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210867

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 a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	A	7: 45,774,273 (GRCm39)	D769V	probably benign	Het
Afm	T	A	5: 90,672,787 (GRCm39)		probably benign	Het
Ago3	A	G	4: 126,297,075 (GRCm39)	S181P	probably damaging	Het
Brme1	T	C	8: 84,893,301 (GRCm39)	V156A	probably benign	Het
Ccm2l	C	A	2: 152,909,853 (GRCm39)		probably benign	Het
Clhc1	A	G	11: 29,503,765 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,722 (GRCm39)	I90V	probably benign	Het
Fsip2	T	G	2: 82,812,983 (GRCm39)	S3101A	probably benign	Het
Gpsm1	C	A	2: 26,216,314 (GRCm39)	H384N	probably damaging	Het
Itgal	A	G	7: 126,901,318 (GRCm39)	I235V	probably benign	Het
Lrp1b	C	A	2: 41,339,246 (GRCm39)	G752C	probably damaging	Het
Ltbp1	A	G	17: 75,599,835 (GRCm39)	D659G	possibly damaging	Het
Plb1	A	C	5: 32,438,489 (GRCm39)	D208A	probably damaging	Het
Plce1	T	A	19: 38,727,682 (GRCm39)		probably benign	Het
Stim1	A	G	7: 102,076,282 (GRCm39)		probably benign	Het
Sult4a1	A	T	15: 83,974,247 (GRCm39)	S141T	probably damaging	Het
Tas2r119	A	T	15: 32,177,548 (GRCm39)	K38M	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Zfp451	G	A	1: 33,821,243 (GRCm39)	T203M	probably damaging	Het

Other mutations in Odad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Odad1	APN	7	45,592,080 (GRCm39)	missense	probably damaging	1.00
IGL01383:Odad1	APN	7	45,589,124 (GRCm39)	missense	probably damaging	1.00
R0865:Odad1	UTSW	7	45,591,512 (GRCm39)	missense	probably benign	0.17
R1061:Odad1	UTSW	7	45,591,179 (GRCm39)	missense	probably damaging	0.96
R1217:Odad1	UTSW	7	45,592,182 (GRCm39)	splice site	probably benign
R1533:Odad1	UTSW	7	45,592,282 (GRCm39)	missense	probably benign	0.00
R2863:Odad1	UTSW	7	45,597,736 (GRCm39)	missense	probably benign	0.04
R3954:Odad1	UTSW	7	45,591,100 (GRCm39)	missense	probably damaging	1.00
R4774:Odad1	UTSW	7	45,597,804 (GRCm39)	missense	probably damaging	0.99
R4861:Odad1	UTSW	7	45,592,297 (GRCm39)	missense	probably damaging	0.98
R4861:Odad1	UTSW	7	45,592,297 (GRCm39)	missense	probably damaging	0.98
R4952:Odad1	UTSW	7	45,591,615 (GRCm39)	missense	probably damaging	1.00
R5074:Odad1	UTSW	7	45,578,514 (GRCm39)	missense	probably benign	0.05
R5187:Odad1	UTSW	7	45,578,540 (GRCm39)	missense	probably damaging	1.00
R5265:Odad1	UTSW	7	45,596,859 (GRCm39)	missense	probably damaging	1.00
R5364:Odad1	UTSW	7	45,585,756 (GRCm39)	missense	probably damaging	0.99
R5377:Odad1	UTSW	7	45,591,506 (GRCm39)	nonsense	probably null
R6221:Odad1	UTSW	7	45,596,903 (GRCm39)	missense	probably damaging	1.00
R6246:Odad1	UTSW	7	45,585,788 (GRCm39)	missense	probably damaging	1.00
R6324:Odad1	UTSW	7	45,591,134 (GRCm39)	missense	probably damaging	1.00
R6389:Odad1	UTSW	7	45,597,940 (GRCm39)	missense	probably benign	0.32
R6542:Odad1	UTSW	7	45,597,814 (GRCm39)	missense	probably benign	0.00
R6593:Odad1	UTSW	7	45,596,808 (GRCm39)	missense	probably damaging	0.96
R7215:Odad1	UTSW	7	45,586,046 (GRCm39)	missense	probably damaging	1.00
R7401:Odad1	UTSW	7	45,592,189 (GRCm39)	missense	probably damaging	1.00
R7431:Odad1	UTSW	7	45,578,670 (GRCm39)	missense	probably damaging	0.99
R7725:Odad1	UTSW	7	45,597,835 (GRCm39)	missense	probably damaging	0.98
R7878:Odad1	UTSW	7	45,573,984 (GRCm39)	missense	possibly damaging	0.91
R8036:Odad1	UTSW	7	45,592,276 (GRCm39)	missense	probably benign	0.06
R8681:Odad1	UTSW	7	45,591,263 (GRCm39)	missense	probably damaging	0.96
R8686:Odad1	UTSW	7	45,597,116 (GRCm39)	missense	probably benign	0.20
R9016:Odad1	UTSW	7	45,585,988 (GRCm39)	missense	probably damaging	1.00
R9093:Odad1	UTSW	7	45,596,965 (GRCm39)	missense	possibly damaging	0.53
R9254:Odad1	UTSW	7	45,597,116 (GRCm39)	missense	probably benign	0.20
R9379:Odad1	UTSW	7	45,597,116 (GRCm39)	missense	probably benign	0.20
R9410:Odad1	UTSW	7	45,597,821 (GRCm39)	missense	probably benign	0.00
R9713:Odad1	UTSW	7	45,578,562 (GRCm39)	missense	probably damaging	0.96
X0064:Odad1	UTSW	7	45,597,817 (GRCm39)	missense	possibly damaging	0.91

Posted On

2014-02-04