Mutagenetix > Incidental Mutation

Incidental Mutation 'R4705:Odf2'

355085

Institutional Source

Beutler Lab

Gene Symbol

Odf2

Ensembl Gene

ENSMUSG00000026790

Gene Name

outer dense fiber of sperm tails 2

Synonyms

cenexin, MMTEST29

MMRRC Submission

041953-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29779233-29821758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29794046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 301 (L301Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109396 (fasta)

Gene Model

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

AlphaFold

A3KGV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028128
AA Change: L238Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028128
Gene: ENSMUSG00000026790
AA Change: L238Q

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 damaging
Transcript: ENSMUST00000046571
AA Change: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049272
Gene: ENSMUSG00000026790
AA Change: L252Q

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 damaging
Transcript: ENSMUST00000113755
AA Change: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109384
Gene: ENSMUSG00000026790
AA Change: L252Q

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 damaging
Transcript: ENSMUST00000113756
AA Change: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109385
Gene: ENSMUSG00000026790
AA Change: L252Q

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 damaging
Transcript: ENSMUST00000113757
AA Change: L233Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109386
Gene: ENSMUSG00000026790
AA Change: L233Q

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 damaging
Transcript: ENSMUST00000113759
AA Change: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109388
Gene: ENSMUSG00000026790
AA Change: L252Q

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 damaging
Transcript: ENSMUST00000113762
AA Change: L257Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109391
Gene: ENSMUSG00000026790
AA Change: L257Q

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

noncoding transcript
Transcript: ENSMUST00000152932

Predicted Effect

probably damaging
Transcript: ENSMUST00000113765
AA Change: L257Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109394
Gene: ENSMUSG00000026790
AA Change: L257Q

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 damaging
Transcript: ENSMUST00000184845
AA Change: L252Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139390
Gene: ENSMUSG00000026790
AA Change: L252Q

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

probably damaging
Transcript: ENSMUST00000137558
AA Change: L256Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117887
Gene: ENSMUSG00000026790
AA Change: L256Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113767
AA Change: L301Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109396
Gene: ENSMUSG00000026790
AA Change: L301Q

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

probably damaging
Transcript: ENSMUST00000113764
AA Change: L238Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109393
Gene: ENSMUSG00000026790
AA Change: L238Q

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 damaging
Transcript: ENSMUST00000113763
AA Change: L238Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109392
Gene: ENSMUSG00000026790
AA Change: L238Q

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

noncoding transcript
Transcript: ENSMUST00000126103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130899

Predicted Effect

probably benign
Transcript: ENSMUST00000133233

Predicted Effect

probably benign
Transcript: ENSMUST00000123335

Meta Mutation Damage Score

0.3547

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,369 (GRCm39)	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,056,631 (GRCm39)	T123A	possibly damaging	Het
Abca4	T	C	3: 121,899,019 (GRCm39)	V667A	probably damaging	Het
Abcb5	A	G	12: 118,929,040 (GRCm39)	S4P	possibly damaging	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Ahnak	C	A	19: 8,994,270 (GRCm39)	H5185N	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,538,192 (GRCm39)	P483L	probably damaging	Het
Atp11a	C	G	8: 12,863,118 (GRCm39)	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bag6	C	A	17: 35,361,319 (GRCm39)	P476H	probably damaging	Het
Bltp1	C	T	3: 37,096,038 (GRCm39)	T1108I	probably benign	Het
C2cd3	A	G	7: 100,044,395 (GRCm39)	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204 (GRCm39)	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,024,840 (GRCm39)	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,372,586 (GRCm39)	I107T	probably benign	Het
Cela2a	T	C	4: 141,548,722 (GRCm39)	N138S	probably benign	Het
Cfap61	A	C	2: 145,877,122 (GRCm39)	R460S	probably damaging	Het
Clstn2	T	C	9: 97,345,612 (GRCm39)	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,685,944 (GRCm39)	G683W	unknown	Het
Col4a2	G	A	8: 11,363,504 (GRCm39)	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,551,283 (GRCm39)	S164P	probably benign	Het
Cpq	A	G	15: 33,497,484 (GRCm39)	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579 (GRCm39)	T690A	probably benign	Het
Cx3cl1	A	T	8: 95,506,835 (GRCm39)	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,456,717 (GRCm39)	R36C	probably benign	Het
Ddx51	T	C	5: 110,803,174 (GRCm39)	V269A	probably damaging	Het
Dipk2a	T	C	9: 94,402,688 (GRCm39)	N325D	possibly damaging	Het
Dlst	G	T	12: 85,165,616 (GRCm39)		probably null	Het
Dmkn	G	C	7: 30,463,406 (GRCm39)	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,304,948 (GRCm39)	I330T	probably damaging	Het
Dock3	G	A	9: 106,902,535 (GRCm39)	H292Y	probably damaging	Het
Ell	A	G	8: 71,031,584 (GRCm39)	D94G	possibly damaging	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Fam3d	T	C	14: 8,349,347 (GRCm38)	E201G	probably benign	Het
Fcgbp	A	G	7: 27,806,721 (GRCm39)	K2230E	probably benign	Het
Frmd5	G	T	2: 121,393,344 (GRCm39)		probably benign	Het
Gas2l1	G	A	11: 5,010,867 (GRCm39)	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,410,966 (GRCm39)	E86*	probably null	Het
Glyat	T	C	19: 12,628,661 (GRCm39)	L152P	possibly damaging	Het
Gm17330	T	C	12: 24,018,783 (GRCm39)	T22A	probably damaging	Het
Gm9931	T	A	1: 147,157,591 (GRCm39)		noncoding transcript	Het
Gpatch1	A	T	7: 34,998,730 (GRCm39)		probably null	Het
Gpr4	T	C	7: 18,956,819 (GRCm39)	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,943,758 (GRCm39)	E214K	probably benign	Het
Hdac7	G	T	15: 97,709,468 (GRCm39)	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,729,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,716,631 (GRCm39)	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,322,899 (GRCm39)	Y71C	probably damaging	Het
Il36b	T	C	2: 24,044,630 (GRCm39)	V10A	probably benign	Het
Inpp5f	G	T	7: 128,265,711 (GRCm39)	S152I	probably damaging	Het
Jag1	C	A	2: 136,938,229 (GRCm39)	W257L	probably damaging	Het
Jak2	T	A	19: 29,272,315 (GRCm39)	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,690,046 (GRCm39)	D247G	probably benign	Het
Kif15	A	G	9: 122,789,058 (GRCm39)		probably null	Het
Kndc1	A	G	7: 139,510,036 (GRCm39)	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,059,170 (GRCm39)	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,539,138 (GRCm39)		probably benign	Het
Lypd10	T	A	7: 24,412,934 (GRCm39)	L114Q	probably damaging	Het
Mfsd4a	A	T	1: 131,981,309 (GRCm39)	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,550 (GRCm39)	V313A	probably benign	Het
Mrpl19	A	T	6: 81,941,266 (GRCm39)	D98E	probably damaging	Het
Mybl1	A	G	1: 9,760,340 (GRCm39)	I86T	probably damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628 (GRCm39)	T117A	probably damaging	Het
Nol11	A	G	11: 107,075,544 (GRCm39)		probably benign	Het
Nucb2	G	A	7: 116,139,262 (GRCm39)		probably null	Het
Nup58	G	T	14: 60,488,664 (GRCm39)	P19T	unknown	Het
Oog4	T	C	4: 143,165,445 (GRCm39)	Y234C	probably benign	Het
Or11j4	A	G	14: 50,630,257 (GRCm39)	I15V	probably benign	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Papln	T	C	12: 83,823,982 (GRCm39)		probably null	Het
Paqr6	C	T	3: 88,273,236 (GRCm39)	A76V	probably benign	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,333,743 (GRCm39)	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,705,368 (GRCm39)	Y189*	probably null	Het
Pknox2	A	T	9: 36,834,934 (GRCm39)	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plxnd1	A	C	6: 115,935,581 (GRCm39)	L1735R	probably damaging	Het
Polm	T	A	11: 5,787,663 (GRCm39)	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,328,265 (GRCm39)	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,869,294 (GRCm39)	W414R	probably benign	Het
Rassf1	A	G	9: 107,435,066 (GRCm39)	D187G	probably benign	Het
Rhag	T	C	17: 41,147,329 (GRCm39)	I397T	probably benign	Het
Rnft2	A	G	5: 118,366,928 (GRCm39)	F269S	probably damaging	Het
Rnmt	T	C	18: 68,447,196 (GRCm39)	F360S	probably damaging	Het
Ror2	C	T	13: 53,271,333 (GRCm39)	A329T	probably benign	Het
Slc4a1	T	A	11: 102,247,084 (GRCm39)	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856 (GRCm38)	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,050,660 (GRCm39)	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,031,289 (GRCm39)	N103K	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tmem100	C	T	11: 89,926,389 (GRCm39)	T72I	probably damaging	Het
Ttc38	A	G	15: 85,737,164 (GRCm39)	T350A	probably benign	Het
Ubr4	C	T	4: 139,177,840 (GRCm39)	T3241M	probably damaging	Het
Unc13d	A	T	11: 115,964,214 (GRCm39)	M350K	possibly damaging	Het
Vit	T	C	17: 78,932,543 (GRCm39)	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Zbtb12	T	A	17: 35,115,377 (GRCm39)	H387Q	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
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
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'- TCACACGCATTTCAGGACCC -3'
(R):5'- TGCCTTCTGAGACTGCTCTG -3'

Sequencing Primer
(F):5'- CAGTGCCTCTAGTCTTGGC -3'
(R):5'- GAGACTGCTCTGTTCCTTCTG -3'

Posted On

2015-10-21