Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Odad1'

94473

Institutional Source

Beutler Lab

Gene Symbol

Odad1

Ensembl Gene

ENSMUSG00000040189

Gene Name

outer dynein arm docking complex subunit 1

Synonyms

Ccdc114

MMRRC Submission

039147-MU

Accession Numbers

Essential gene?

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

Stock #

R1061 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

45573496-45598387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45591179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 218 (I218T)

Ref Sequence

ENSEMBL: ENSMUSP00000042772 (fasta)

Gene Model

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

AlphaFold

Q3UX62

Predicted Effect

probably damaging
Transcript: ENSMUST00000038720
AA Change: I218T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: I218T

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

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,108,153 (GRCm39)	A715T	probably benign	Het
Ampd2	A	G	3: 107,983,005 (GRCm39)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,531,248 (GRCm39)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,121,729 (GRCm39)	S381R	probably damaging	Het
Armc8	T	G	9: 99,419,784 (GRCm39)	N51H	probably damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,114,069 (GRCm39)	K471*	probably null	Het
Birc6	A	G	17: 74,996,307 (GRCm39)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,746,409 (GRCm39)	I139T	probably benign	Het
Ccdc60	C	A	5: 116,310,527 (GRCm39)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,286,128 (GRCm39)	A226V	probably benign	Het
Cibar2	C	A	8: 120,896,443 (GRCm39)		probably null	Het
Cog1	T	G	11: 113,542,863 (GRCm39)	S170A	probably benign	Het
Cwc15	T	C	9: 14,419,211 (GRCm39)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,923,643 (GRCm39)	D333E	probably benign	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Dlc1	T	A	8: 37,325,205 (GRCm39)	T367S	probably benign	Het
Dnah17	T	C	11: 117,943,514 (GRCm39)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,452,486 (GRCm39)	Y165*	probably null	Het
Eml6	T	C	11: 29,727,267 (GRCm39)	D1285G	probably damaging	Het
Fasn	T	C	11: 120,713,008 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,187,883 (GRCm39)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 190,740,370 (GRCm39)	V550E	probably benign	Het
Gcm2	A	G	13: 41,259,347 (GRCm39)	W41R	probably damaging	Het
Gli2	A	T	1: 118,782,247 (GRCm39)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,057,623 (GRCm39)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,181,135 (GRCm39)	S66T	probably benign	Het
Hsph1	A	T	5: 149,541,883 (GRCm39)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,929,915 (GRCm39)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,516,268 (GRCm39)	Y391*	probably null	Het
Mc2r	A	T	18: 68,540,880 (GRCm39)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,074,821 (GRCm39)	D106E	probably benign	Het
Nup43	G	T	10: 7,543,435 (GRCm39)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,237,663 (GRCm39)	E197D	probably damaging	Het
Or10d1c	C	A	9: 38,893,779 (GRCm39)	C187F	probably damaging	Het
Or55b4	T	A	7: 102,133,321 (GRCm39)	*335C	probably null	Het
Or5p60	T	C	7: 107,723,663 (GRCm39)	Y269C	probably damaging	Het
Or8h8	A	T	2: 86,753,126 (GRCm39)	V250D	possibly damaging	Het
Pitrm1	A	G	13: 6,605,611 (GRCm39)	H186R	probably damaging	Het
Pklr	C	T	3: 89,052,188 (GRCm39)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,326,401 (GRCm39)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,558,682 (GRCm39)		probably null	Het
R3hcc1l	C	T	19: 42,571,865 (GRCm39)	R135*	probably null	Het
Ralyl	A	C	3: 14,180,761 (GRCm39)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
S100a1	T	C	3: 90,418,619 (GRCm39)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,624,729 (GRCm39)	M531K	probably damaging	Het
Slc5a5	T	A	8: 71,342,865 (GRCm39)	M232L	probably benign	Het
Tet3	A	T	6: 83,350,305 (GRCm39)	N1054K	probably damaging	Het
Tg	A	G	15: 66,570,408 (GRCm39)	N1427D	probably benign	Het
Tns1	A	C	1: 73,956,831 (GRCm39)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,153,156 (GRCm39)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,468,131 (GRCm39)	E40G	probably damaging	Het
Usp34	T	C	11: 23,334,420 (GRCm39)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,038,603 (GRCm39)	T726I	probably benign	Het
Vmn2r97	A	T	17: 19,148,440 (GRCm39)	R112*	probably null	Het
Vwa2	G	T	19: 56,897,426 (GRCm39)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,196,511 (GRCm39)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,958,725 (GRCm39)		probably null	Het
Wrap53	A	G	11: 69,453,226 (GRCm39)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,211,161 (GRCm39)	W216L	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
IGL01826:Odad1	APN	7	45,597,810 (GRCm39)	missense	possibly damaging	0.62
R0865:Odad1	UTSW	7	45,591,512 (GRCm39)	missense	probably benign	0.17
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

Predicted Primers

PCR Primer
(F):5'- GTGTACCCTGTGTGTCCACCAATC -3'
(R):5'- CCTCATAACGCAGCACTAGCTTCTC -3'

Sequencing Primer
(F):5'- TGAGCATCCTTGGGAAGC -3'
(R):5'- TTGCATCCTGGATAAGGCCC -3'

Posted On

2014-01-05