Mutagenetix > Incidental Mutation

Incidental Mutation 'R5116:Odad3'

394200

Institutional Source

Beutler Lab

Gene Symbol

Odad3

Ensembl Gene

ENSMUSG00000039632

Gene Name

outer dynein arm docking complex subunit 3

Synonyms

Ccdc151, C330001K17Rik, b2b1885Clo

MMRRC Submission

042704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21901167-21913930 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 21901424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 595 (*595Q)

Ref Sequence

ENSEMBL: ENSMUSP00000110993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044926] [ENSMUST00000045726] [ENSMUST00000115336] [ENSMUST00000214026] [ENSMUST00000215851]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000044926
AA Change: *594Q

SMART Domains

Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632
AA Change: *594Q

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
coiled coil region	378	420	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	550	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045726

SMART Domains

Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
RasGEFN	63	201	1.35e-6	SMART
RasGEF	244	504	2.74e-84	SMART
low complexity region	533	579	N/A	INTRINSIC
RA	609	699	3.36e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115336
AA Change: *595Q

SMART Domains

Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632
AA Change: *595Q

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
coiled coil region	379	421	N/A	INTRINSIC
low complexity region	496	515	N/A	INTRINSIC
low complexity region	551	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214713

Predicted Effect

probably benign
Transcript: ENSMUST00000215851

Meta Mutation Damage Score

0.8540

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.5%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,216,930 (GRCm39)	H429R	probably damaging	Het
Adam39	G	T	8: 41,278,038 (GRCm39)	C143F	probably damaging	Het
Adamts19	T	C	18: 59,036,066 (GRCm39)	V417A	possibly damaging	Het
Adcy10	C	A	1: 165,347,069 (GRCm39)	A362E	probably damaging	Het
Akap6	A	G	12: 53,188,298 (GRCm39)	E1904G	probably benign	Het
Aldh18a1	A	G	19: 40,541,949 (GRCm39)	M89T	probably benign	Het
Alyref	G	T	11: 120,488,554 (GRCm39)	F91L	probably benign	Het
Capn3	G	T	2: 120,315,773 (GRCm39)	M248I	probably benign	Het
Catsper4	A	T	4: 133,953,991 (GRCm39)	I56N	probably damaging	Het
Cckbr	T	A	7: 105,082,862 (GRCm39)	I75N	probably damaging	Het
Ccr8	T	C	9: 119,923,095 (GRCm39)	I70T	probably benign	Het
Cdh24	T	C	14: 54,873,870 (GRCm39)	D428G	probably benign	Het
Cdk5rap2	G	T	4: 70,225,475 (GRCm39)	Q557K	possibly damaging	Het
Clip1	C	T	5: 123,768,770 (GRCm39)	A610T	probably benign	Het
Dnajc16	A	T	4: 141,495,280 (GRCm39)	Y479*	probably null	Het
Fpr-rs3	A	G	17: 20,844,562 (GRCm39)	V193A	probably benign	Het
Gm29125	T	C	1: 80,361,690 (GRCm39)		noncoding transcript	Het
H1f4	A	G	13: 23,806,270 (GRCm39)	Y71H	probably damaging	Het
Ifi208	A	G	1: 173,505,549 (GRCm39)		probably benign	Het
Immp1l	G	A	2: 105,795,640 (GRCm39)	R155H	probably benign	Het
Itgad	C	A	7: 127,803,065 (GRCm39)	T7K	probably damaging	Het
Itgb3	T	C	11: 104,531,903 (GRCm39)	V370A	probably benign	Het
Jak1	A	G	4: 101,012,310 (GRCm39)	I1053T	probably benign	Het
Kif21b	A	G	1: 136,080,521 (GRCm39)	R572G	probably damaging	Het
Lama2	A	T	10: 26,994,556 (GRCm39)	D1784E	probably benign	Het
Ltbp2	A	T	12: 84,856,511 (GRCm39)	V651D	probably damaging	Het
Mrpl47	A	G	3: 32,787,750 (GRCm39)	L100S	probably damaging	Het
Mx1	T	G	16: 97,258,679 (GRCm39)	N6T	possibly damaging	Het
Nde1	T	A	16: 14,001,351 (GRCm39)	M133K	probably benign	Het
Nlrc5	T	C	8: 95,208,488 (GRCm39)	L778P	probably damaging	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or5l13	G	A	2: 87,779,873 (GRCm39)	R235C	probably benign	Het
Or6c3b	A	G	10: 129,527,266 (GRCm39)	S215P	probably damaging	Het
Or7g32	A	G	9: 19,389,094 (GRCm39)	S151P	possibly damaging	Het
Or8b38	T	C	9: 37,972,634 (GRCm39)	V6A	probably benign	Het
Otog	T	C	7: 45,923,191 (GRCm39)	V1022A	probably benign	Het
Pcdhac1	G	A	18: 37,224,500 (GRCm39)	V438M	probably damaging	Het
Pcsk5	G	A	19: 17,440,798 (GRCm39)	S1264F	possibly damaging	Het
Pfas	T	C	11: 68,881,816 (GRCm39)		probably benign	Het
Pigr	T	A	1: 130,776,768 (GRCm39)	F648I	probably benign	Het
Pla2r1	A	C	2: 60,279,250 (GRCm39)	Y777D	probably damaging	Het
Pnpla7	G	T	2: 24,911,982 (GRCm39)	G716V	probably damaging	Het
Rab11fip5	C	T	6: 85,325,789 (GRCm39)	E206K	probably damaging	Het
S100a10	A	G	3: 93,468,247 (GRCm39)		probably null	Het
Slc35f1	T	C	10: 52,897,991 (GRCm39)	I134T	probably benign	Het
Smarcd1	C	T	15: 99,600,369 (GRCm39)	A56V	probably benign	Het
Snrk	A	G	9: 121,989,396 (GRCm39)	T247A	probably benign	Het
Srgap1	A	G	10: 121,628,284 (GRCm39)	L896P	possibly damaging	Het
Tmem19	A	T	10: 115,179,651 (GRCm39)	F167I	probably benign	Het
Tmprss11f	T	C	5: 86,687,555 (GRCm39)	S118G	probably benign	Het
Tnc	A	G	4: 63,885,452 (GRCm39)		probably null	Het
Trem3	T	C	17: 48,556,580 (GRCm39)	L17P	probably benign	Het
Upp2	A	G	2: 58,661,554 (GRCm39)	Y67C	probably damaging	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het
Zfp932	T	A	5: 110,157,242 (GRCm39)	D280E	probably benign	Het

Other mutations in Odad3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Odad3	APN	9	21,906,675 (GRCm39)	critical splice acceptor site	probably null
IGL01922:Odad3	APN	9	21,904,826 (GRCm39)	unclassified	probably benign
IGL02223:Odad3	APN	9	21,904,908 (GRCm39)	missense	probably damaging	1.00
IGL03161:Odad3	APN	9	21,913,611 (GRCm39)	missense	probably benign	0.02
IGL03269:Odad3	APN	9	21,909,339 (GRCm39)	critical splice donor site	probably null
R0118:Odad3	UTSW	9	21,906,353 (GRCm39)	missense	probably benign	0.03
R0129:Odad3	UTSW	9	21,904,848 (GRCm39)	missense	probably damaging	0.98
R0279:Odad3	UTSW	9	21,901,543 (GRCm39)	unclassified	probably benign
R0390:Odad3	UTSW	9	21,903,004 (GRCm39)	missense	probably benign	0.00
R1349:Odad3	UTSW	9	21,904,916 (GRCm39)	missense	probably damaging	1.00
R1372:Odad3	UTSW	9	21,904,916 (GRCm39)	missense	probably damaging	1.00
R1891:Odad3	UTSW	9	21,906,677 (GRCm39)	splice site	probably null
R2044:Odad3	UTSW	9	21,903,154 (GRCm39)	missense	possibly damaging	0.95
R5147:Odad3	UTSW	9	21,906,158 (GRCm39)	missense	probably benign	0.21
R5929:Odad3	UTSW	9	21,913,718 (GRCm39)	missense	possibly damaging	0.50
R6182:Odad3	UTSW	9	21,901,698 (GRCm39)	missense	probably damaging	1.00
R7253:Odad3	UTSW	9	21,913,767 (GRCm39)	missense	probably damaging	1.00
R7498:Odad3	UTSW	9	21,913,553 (GRCm39)	missense	probably damaging	1.00
R7742:Odad3	UTSW	9	21,904,193 (GRCm39)	missense	possibly damaging	0.82
R8331:Odad3	UTSW	9	21,903,007 (GRCm39)	missense	probably damaging	1.00
R8976:Odad3	UTSW	9	21,903,334 (GRCm39)	unclassified	probably benign
R9319:Odad3	UTSW	9	21,906,203 (GRCm39)	missense	probably damaging	1.00
R9324:Odad3	UTSW	9	21,903,207 (GRCm39)	missense	probably damaging	1.00
R9422:Odad3	UTSW	9	21,913,628 (GRCm39)	missense	possibly damaging	0.55
R9614:Odad3	UTSW	9	21,904,310 (GRCm39)	missense	probably benign	0.02
Z1176:Odad3	UTSW	9	21,901,720 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TACTGTGGGAACTTCTGGCTC -3'
(R):5'- CGAGGTGGCCTTAAGTCAAG -3'

Sequencing Primer
(F):5'- GGCTCGGCCTTTTCTCTC -3'
(R):5'- CTTAAGTCAAGGCCAAGGAGG -3'

Posted On

2016-06-15