Mutagenetix > Incidental Mutation

Incidental Mutation 'R8548:Odf2'

659724

Institutional Source

Beutler Lab

Gene Symbol

Odf2

Ensembl Gene

ENSMUSG00000026790

Gene Name

outer dense fiber of sperm tails 2

Synonyms

cenexin, MMTEST29

MMRRC Submission

068513-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29779233-29821758 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 29783526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028128] [ENSMUST00000028128] [ENSMUST00000028128] [ENSMUST00000046571] [ENSMUST00000113755] [ENSMUST00000113756] [ENSMUST00000113757] [ENSMUST00000113757] [ENSMUST00000113757] [ENSMUST00000113759] [ENSMUST00000113762] [ENSMUST00000113767] [ENSMUST00000113763] [ENSMUST00000113763] [ENSMUST00000113763] [ENSMUST00000113764] [ENSMUST00000113764] [ENSMUST00000113764] [ENSMUST00000113765] [ENSMUST00000123335] [ENSMUST00000123335] [ENSMUST00000123335] [ENSMUST00000133233] [ENSMUST00000133233] [ENSMUST00000133233] [ENSMUST00000184845]

AlphaFold

A3KGV1

Predicted Effect

probably null
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 null
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 null
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
AA Change: V60A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049272
Gene: ENSMUSG00000026790
AA Change: V60A

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
AA Change: V60A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109384
Gene: ENSMUSG00000026790
AA Change: V60A

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
AA Change: V60A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109385
Gene: ENSMUSG00000026790
AA Change: V60A

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 null
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 null
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 null
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
AA Change: V60A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109388
Gene: ENSMUSG00000026790
AA Change: V60A

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
AA Change: V65A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109391
Gene: ENSMUSG00000026790
AA Change: V65A

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: ENSMUST00000113767
AA Change: V109A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109396
Gene: ENSMUSG00000026790
AA Change: V109A

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

probably null
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 null
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 null
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 null
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 null
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 null
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
AA Change: V65A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109394
Gene: ENSMUSG00000026790
AA Change: V65A

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 null
Transcript: ENSMUST00000123335

Predicted Effect

probably null
Transcript: ENSMUST00000123335

Predicted Effect

probably null
Transcript: ENSMUST00000123335

Predicted Effect

probably null
Transcript: ENSMUST00000133233

Predicted Effect

probably null
Transcript: ENSMUST00000133233

Predicted Effect

probably null
Transcript: ENSMUST00000133233

Predicted Effect

probably null
Transcript: ENSMUST00000137558

SMART Domains

Protein: ENSMUSP00000117887
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	143	215	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000137558

SMART Domains

Protein: ENSMUSP00000117887
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	143	215	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000137558

SMART Domains

Protein: ENSMUSP00000117887
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	143	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184845
AA Change: V60A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139390
Gene: ENSMUSG00000026790
AA Change: V60A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	T	5: 121,658,165 (GRCm39)	L376Q	probably damaging	Het
Akirin1	A	G	4: 123,631,831 (GRCm39)	M179T	possibly damaging	Het
Ap5b1	G	T	19: 5,621,123 (GRCm39)	V848L	possibly damaging	Het
Apoa2	T	A	1: 171,053,798 (GRCm39)	M91K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cdc20	A	C	4: 118,293,535 (GRCm39)	S160A	possibly damaging	Het
Cftr	G	T	6: 18,273,698 (GRCm39)	V839L	possibly damaging	Het
Ctf1	A	T	7: 127,316,564 (GRCm39)	H171L	probably benign	Het
Dmac2	T	A	7: 25,324,217 (GRCm39)	M225K	probably damaging	Het
Dmbx1	A	T	4: 115,777,512 (GRCm39)	V112E	probably damaging	Het
Eloa	T	C	4: 135,732,988 (GRCm39)	K754R	probably damaging	Het
Ern2	G	A	7: 121,777,062 (GRCm39)	T286I	probably damaging	Het
Fam135b	T	C	15: 71,334,659 (GRCm39)	D845G	probably damaging	Het
Fbxl6	T	A	15: 76,421,542 (GRCm39)	M232L	possibly damaging	Het
Gpr171	A	T	3: 59,005,400 (GRCm39)	I125K	probably damaging	Het
Hoxa2	G	A	6: 52,140,098 (GRCm39)	T296I	probably damaging	Het
Hspa8	A	G	9: 40,713,767 (GRCm39)	M87V	probably benign	Het
Ilkap	G	T	1: 91,318,882 (GRCm39)	D31E	possibly damaging	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Macc1	T	A	12: 119,414,091 (GRCm39)	S756T	probably benign	Het
Map2	A	G	1: 66,452,499 (GRCm39)	D545G	probably damaging	Het
Mapkbp1	A	G	2: 119,854,572 (GRCm39)	N1390D	probably benign	Het
Mgat5	G	A	1: 127,248,409 (GRCm39)	V104M	possibly damaging	Het
Myoz2	T	A	3: 122,827,916 (GRCm39)	M1L	possibly damaging	Het
Nmt1	A	G	11: 102,934,052 (GRCm39)	K64E	possibly damaging	Het
Nr6a1	C	A	2: 38,619,550 (GRCm39)	Q448H	probably damaging	Het
Nr6a1	T	G	2: 38,619,551 (GRCm39)	Q448P	probably damaging	Het
Or8g37	T	A	9: 39,731,537 (GRCm39)	C201S	probably benign	Het
Osbpl6	A	G	2: 76,409,566 (GRCm39)	N476S	possibly damaging	Het
Pclo	A	G	5: 14,732,268 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,934,558 (GRCm39)	D1792N	probably damaging	Het
Prdm11	C	T	2: 92,843,103 (GRCm39)	V119M	probably damaging	Het
Prss23	A	G	7: 89,159,416 (GRCm39)	F218L	probably benign	Het
Rflnb	A	G	11: 75,913,047 (GRCm39)	Y114H	probably damaging	Het
Skor2	T	A	18: 76,946,581 (GRCm39)	I101N	unknown	Het
Sp8	A	C	12: 118,812,910 (GRCm39)	Y255S	possibly damaging	Het
Srfbp1	G	A	18: 52,621,463 (GRCm39)	V175I	probably benign	Het
Stxbp5	C	T	10: 9,693,050 (GRCm39)	D359N	probably null	Het
Thnsl1	A	G	2: 21,217,733 (GRCm39)	I496V	possibly damaging	Het
Usp32	G	A	11: 84,908,653 (GRCm39)	P1018S	possibly damaging	Het
Usp7	A	T	16: 8,529,939 (GRCm39)	V142E	possibly damaging	Het

Other mutations in Odf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Odf2	APN	2	29,783,071 (GRCm39)	missense	probably damaging	1.00
IGL01511:Odf2	APN	2	29,804,321 (GRCm39)	splice site	probably benign
IGL01760:Odf2	APN	2	29,804,472 (GRCm39)	missense	probably damaging	1.00
IGL02487:Odf2	APN	2	29,810,851 (GRCm39)	missense	possibly damaging	0.80
IGL03047:Odf2	APN	2	29,810,907 (GRCm39)	splice site	probably benign
IGL03057:Odf2	APN	2	29,813,657 (GRCm39)	intron	probably benign
IGL03064:Odf2	APN	2	29,791,091 (GRCm39)	missense	probably benign	0.28
3-1:Odf2	UTSW	2	29,794,087 (GRCm39)	nonsense	probably null
IGL02837:Odf2	UTSW	2	29,816,725 (GRCm39)	missense	probably damaging	0.99
R4025:Odf2	UTSW	2	29,816,827 (GRCm39)	missense	probably damaging	1.00
R4227:Odf2	UTSW	2	29,791,296 (GRCm39)	intron	probably benign
R4357:Odf2	UTSW	2	29,782,256 (GRCm39)	missense	probably benign	0.00
R4417:Odf2	UTSW	2	29,805,333 (GRCm39)	splice site	probably benign
R4512:Odf2	UTSW	2	29,816,109 (GRCm39)	splice site	probably null
R4705:Odf2	UTSW	2	29,794,046 (GRCm39)	missense	probably damaging	1.00
R4815:Odf2	UTSW	2	29,792,252 (GRCm39)	missense	possibly damaging	0.87
R5325:Odf2	UTSW	2	29,802,583 (GRCm39)	missense	probably benign	0.19
R5614:Odf2	UTSW	2	29,810,879 (GRCm39)	missense	probably damaging	0.99
R6998:Odf2	UTSW	2	29,802,629 (GRCm39)	missense	probably benign	0.43
R7740:Odf2	UTSW	2	29,820,636 (GRCm39)	missense	probably damaging	1.00
R7963:Odf2	UTSW	2	29,816,112 (GRCm39)	missense	probably benign	0.44
R9096:Odf2	UTSW	2	29,783,508 (GRCm39)	missense	probably damaging	1.00
R9157:Odf2	UTSW	2	29,816,815 (GRCm39)	missense	probably benign	0.05
R9313:Odf2	UTSW	2	29,816,815 (GRCm39)	missense	probably benign	0.05
R9383:Odf2	UTSW	2	29,791,249 (GRCm39)	missense	probably damaging	1.00
R9658:Odf2	UTSW	2	29,779,813 (GRCm39)	missense	probably benign	0.01
R9722:Odf2	UTSW	2	29,813,594 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CATTACTCAGAAGAGGCCCC -3'
(R):5'- GTGGAACAGCAGGATCTACCAC -3'

Sequencing Primer
(F):5'- CTCTGCAAAGGTGGCATATGC -3'
(R):5'- GTTACAGGGTTTACAAAGGCACCC -3'

Posted On

2021-01-18