Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Odf2'

89256

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Odf2

Ensembl Gene

ENSMUSG00000026790

Gene Name

outer dense fiber of sperm tails 2

Synonyms

MMTEST29, cenexin

Accession Numbers

Genbank: NM_001113213; MGI: 1098824

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

29889221-29931746 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 29914309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028128] [ENSMUST00000046571] [ENSMUST00000113755] [ENSMUST00000113756] [ENSMUST00000113757] [ENSMUST00000113759] [ENSMUST00000113762] [ENSMUST00000113763] [ENSMUST00000113764] [ENSMUST00000113765] [ENSMUST00000113767] [ENSMUST00000184845]

AlphaFold

A3KGV1

Predicted Effect

probably benign
Transcript: ENSMUST00000028128

SMART Domains

Protein: ENSMUSP00000028128
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	125	197	N/A	INTRINSIC
internal_repeat_1	248	284	1.04e-5	PROSPERO
internal_repeat_1	447	481	1.04e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000046571

SMART Domains

Protein: ENSMUSP00000049272
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
internal_repeat_2	120	138	1.77e-5	PROSPERO
coiled coil region	139	211	N/A	INTRINSIC
internal_repeat_2	218	236	1.77e-5	PROSPERO
internal_repeat_1	262	298	8.12e-7	PROSPERO
internal_repeat_1	461	495	8.12e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113755

SMART Domains

Protein: ENSMUSP00000109384
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	139	211	N/A	INTRINSIC
internal_repeat_1	262	298	2.12e-5	PROSPERO
internal_repeat_1	461	495	2.12e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113756

SMART Domains

Protein: ENSMUSP00000109385
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
internal_repeat_2	120	138	1.77e-5	PROSPERO
coiled coil region	139	211	N/A	INTRINSIC
internal_repeat_2	218	236	1.77e-5	PROSPERO
internal_repeat_1	262	298	8.12e-7	PROSPERO
internal_repeat_1	461	495	8.12e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113757

SMART Domains

Protein: ENSMUSP00000109386
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
internal_repeat_2	101	119	9.13e-6	PROSPERO
coiled coil region	120	192	N/A	INTRINSIC
internal_repeat_2	199	217	9.13e-6	PROSPERO
internal_repeat_1	243	279	3.83e-7	PROSPERO
internal_repeat_1	442	476	3.83e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113759

SMART Domains

Protein: ENSMUSP00000109388
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
internal_repeat_2	120	138	1.82e-5	PROSPERO
coiled coil region	139	211	N/A	INTRINSIC
internal_repeat_2	218	236	1.82e-5	PROSPERO
internal_repeat_1	262	299	1.55e-6	PROSPERO
internal_repeat_1	462	496	1.55e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113762

SMART Domains

Protein: ENSMUSP00000109391
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	144	216	N/A	INTRINSIC
internal_repeat_1	267	303	1.9e-5	PROSPERO
internal_repeat_1	466	500	1.9e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113763

SMART Domains

Protein: ENSMUSP00000109392
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	125	197	N/A	INTRINSIC
internal_repeat_1	248	284	1.04e-5	PROSPERO
internal_repeat_1	447	481	1.04e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113764

SMART Domains

Protein: ENSMUSP00000109393
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	125	197	N/A	INTRINSIC
internal_repeat_1	248	284	1.04e-5	PROSPERO
internal_repeat_1	447	481	1.04e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113765

SMART Domains

Protein: ENSMUSP00000109394
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
internal_repeat_2	125	143	1.66e-5	PROSPERO
coiled coil region	144	216	N/A	INTRINSIC
internal_repeat_2	223	241	1.66e-5	PROSPERO
internal_repeat_1	267	303	7.56e-7	PROSPERO
internal_repeat_1	466	500	7.56e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113767

SMART Domains

Protein: ENSMUSP00000109396
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
coiled coil region	188	260	N/A	INTRINSIC
internal_repeat_1	311	347	3e-5	PROSPERO
internal_repeat_1	510	544	3e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152932

Predicted Effect

probably benign
Transcript: ENSMUST00000184845

SMART Domains

Protein: ENSMUSP00000139390
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	139	211	N/A	INTRINSIC
internal_repeat_1	262	298	3.95e-5	PROSPERO
internal_repeat_1	461	495	3.95e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131165

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality before implantation and transmission ratio distortion while all heterozygous males display normal development and fertility. Males heterozygous for other alleles are either infertile orshow reduced fertility. [provided by MGI curators]

Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	Het

Other mutations in Odf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Odf2	APN	2	29893059	missense	probably damaging	1.00
IGL01760:Odf2	APN	2	29914460	missense	probably damaging	1.00
IGL02487:Odf2	APN	2	29920839	missense	possibly damaging	0.80
IGL03047:Odf2	APN	2	29920895	splice site	probably benign
IGL03057:Odf2	APN	2	29923645	intron	probably benign
IGL03064:Odf2	APN	2	29901079	missense	probably benign	0.28
3-1:Odf2	UTSW	2	29904075	nonsense	probably null
IGL02837:Odf2	UTSW	2	29926713	missense	probably damaging	0.99
R4025:Odf2	UTSW	2	29926815	missense	probably damaging	1.00
R4227:Odf2	UTSW	2	29901284	intron	probably benign
R4357:Odf2	UTSW	2	29892244	missense	probably benign	0.00
R4417:Odf2	UTSW	2	29915321	splice site	probably benign
R4512:Odf2	UTSW	2	29926097	splice site	probably null
R4705:Odf2	UTSW	2	29904034	missense	probably damaging	1.00
R4815:Odf2	UTSW	2	29902240	missense	possibly damaging	0.87
R5325:Odf2	UTSW	2	29912571	missense	probably benign	0.19
R5614:Odf2	UTSW	2	29920867	missense	probably damaging	0.99
R6998:Odf2	UTSW	2	29912617	missense	probably benign	0.43
R7740:Odf2	UTSW	2	29930624	missense	probably damaging	1.00
R7963:Odf2	UTSW	2	29926100	missense	probably benign	0.44
R8548:Odf2	UTSW	2	29893514	critical splice donor site	probably null
R9096:Odf2	UTSW	2	29893496	missense	probably damaging	1.00
R9157:Odf2	UTSW	2	29926803	missense	probably benign	0.05
R9313:Odf2	UTSW	2	29926803	missense	probably benign	0.05
R9383:Odf2	UTSW	2	29901237	missense	probably damaging	1.00
R9658:Odf2	UTSW	2	29889801	missense	probably benign	0.01
R9722:Odf2	UTSW	2	29923582	missense	possibly damaging	0.81

Posted On

2013-12-03