Mutagenetix > Incidental Mutation

Incidental Mutation 'R9157:Odf2'

695413

Institutional Source

Beutler Lab

Gene Symbol

Odf2

Ensembl Gene

ENSMUSG00000026790

Gene Name

outer dense fiber of sperm tails 2

Synonyms

cenexin, MMTEST29

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29779233-29821758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29816815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 754 (G754C)

Ref Sequence

ENSEMBL: ENSMUSP00000109385 (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
AA Change: G754C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000049272
Gene: ENSMUSG00000026790
AA Change: G754C

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
AA Change: G754C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109385
Gene: ENSMUSG00000026790
AA Change: G754C

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
AA Change: G735C

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109386
Gene: ENSMUSG00000026790
AA Change: G735C

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: G755C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109388
Gene: ENSMUSG00000026790
AA Change: G755C

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
AA Change: G759C

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109394
Gene: ENSMUSG00000026790
AA Change: G759C

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Adam9	A	T	8: 25,493,331 (GRCm39)	F92L	probably damaging	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Aff3	A	C	1: 38,249,559 (GRCm39)	I516S	probably benign	Het
Bdp1	C	T	13: 100,186,436 (GRCm39)	S1672N	probably benign	Het
Btc	A	T	5: 91,513,980 (GRCm39)	I94N	probably damaging	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Ccdc47	A	T	11: 106,093,208 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,493,419 (GRCm39)	Y814F	possibly damaging	Het
Celsr3	A	T	9: 108,707,185 (GRCm39)	R1223W	probably damaging	Het
Cenpc1	A	G	5: 86,166,316 (GRCm39)	M779T	probably benign	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Depdc5	T	C	5: 33,102,452 (GRCm39)	I986T	probably damaging	Het
Dhx40	A	T	11: 86,662,050 (GRCm39)	I669N	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dzip3	C	T	16: 48,748,124 (GRCm39)	G918D	probably benign	Het
Fam185a	T	G	5: 21,660,837 (GRCm39)	V284G	probably damaging	Het
Fhod3	T	C	18: 25,218,651 (GRCm39)	S805P	probably damaging	Het
Filip1l	A	G	16: 57,391,980 (GRCm39)	N856S	probably benign	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Gm9195	A	G	14: 72,692,038 (GRCm39)	I1616T	unknown	Het
Grm4	T	A	17: 27,653,956 (GRCm39)	I665F	probably benign	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hic1	A	G	11: 75,057,053 (GRCm39)	L612P	possibly damaging	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hspa12a	A	T	19: 58,789,292 (GRCm39)	M448K	possibly damaging	Het
Htt	T	G	5: 34,987,171 (GRCm39)	I1130S	probably null	Het
Irx3	A	G	8: 92,527,694 (GRCm39)	Y59H	probably damaging	Het
Klc4	A	G	17: 46,950,361 (GRCm39)	L280P	probably damaging	Het
Lrp1	G	T	10: 127,410,209 (GRCm39)	N1512K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Msi2	A	C	11: 88,608,889 (GRCm39)	S10A	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Ngfr	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 95,478,316 (GRCm39)		probably benign	Het
Nradd	A	G	9: 110,451,188 (GRCm39)	L60P	probably damaging	Het
Nup188	A	G	2: 30,188,456 (GRCm39)	Y39C	probably benign	Het
Or10a2	A	T	7: 106,673,214 (GRCm39)	M60L	probably damaging	Het
Or12d15	A	G	17: 37,694,183 (GRCm39)	M242V	probably benign	Het
Or13d1	A	G	4: 52,971,419 (GRCm39)	Y266C	possibly damaging	Het
Or4b1	A	G	2: 89,979,522 (GRCm39)	I276T	possibly damaging	Het
Osbpl6	C	T	2: 76,382,468 (GRCm39)	P222S	probably benign	Het
Pcdhga3	T	C	18: 37,809,229 (GRCm39)	Y561H	probably benign	Het
Phykpl	G	A	11: 51,490,375 (GRCm39)	V419I	probably benign	Het
Pskh1	A	G	8: 106,640,142 (GRCm39)	Y274C	possibly damaging	Het
Rap1gap	G	T	4: 137,444,742 (GRCm39)	V219F	probably damaging	Het
Rapgef4	C	A	2: 72,005,212 (GRCm39)	H220N	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Reg3d	T	C	6: 78,354,422 (GRCm39)	T60A	possibly damaging	Het
Rgs9	T	A	11: 109,116,549 (GRCm39)	D644V	probably damaging	Het
Rhob	T	A	12: 8,549,319 (GRCm39)	H105L	probably benign	Het
Rph3a	T	C	5: 121,101,892 (GRCm39)	K115E	probably damaging	Het
Rsf1	GG	GGGGACGGCCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Slc15a1	T	C	14: 121,702,389 (GRCm39)	I586V	probably benign	Het
Slc15a5	A	T	6: 137,961,456 (GRCm39)	V213E		Het
Stard13	C	A	5: 151,157,152 (GRCm39)	A10S	probably benign	Het
Taf6	C	A	5: 138,179,221 (GRCm39)	V406F	possibly damaging	Het
Tap2	G	T	17: 34,431,004 (GRCm39)	R368L	possibly damaging	Het
Tmem236	T	C	2: 14,223,889 (GRCm39)	V226A	probably benign	Het
Tmem87a	T	A	2: 120,210,093 (GRCm39)	I287F	possibly damaging	Het
Ttll13	A	T	7: 79,904,428 (GRCm39)	K351I	possibly damaging	Het
Ttn	T	A	2: 76,581,245 (GRCm39)	Y23216F	probably damaging	Het
Vmn2r27	T	C	6: 124,201,244 (GRCm39)	T238A	probably benign	Het
Vmn2r54	T	C	7: 12,366,055 (GRCm39)	Y293C	possibly damaging	Het
Vsig10l	T	C	7: 43,112,948 (GRCm39)	S69P		Het
Wdr83	G	A	8: 85,806,432 (GRCm39)	T122I	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp354a	C	T	11: 50,960,788 (GRCm39)	S332F	probably damaging	Het
Zfp354b	T	C	11: 50,813,887 (GRCm39)	N346S	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
R8548:Odf2	UTSW	2	29,783,526 (GRCm39)	critical splice donor site	probably null
R9096:Odf2	UTSW	2	29,783,508 (GRCm39)	missense	probably damaging	1.00
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'- ATGACTGTGACTGATCAGTGG -3'
(R):5'- ACCCCATGATTTTATCCCTAACAGG -3'

Sequencing Primer
(F):5'- ACTGATCAGTGGGTGTGGCC -3'
(R):5'- CCATAGCTCAGTAGTAGCAGTTTGC -3'

Posted On

2022-01-20