Mutagenetix > Incidental Mutation

Incidental Mutation 'R4685:Odf4'

397194

Institutional Source

Beutler Lab

Gene Symbol

Odf4

Ensembl Gene

ENSMUSG00000032921

Gene Name

outer dense fiber of sperm tails 4

Synonyms

Oppo1

MMRRC Submission

041936-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68812661-68817907 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 68813665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038932] [ENSMUST00000125134] [ENSMUST00000130271]

AlphaFold

Q8VI88

Predicted Effect

probably null
Transcript: ENSMUST00000038932

SMART Domains

Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	42	222	1.1e-8	PFAM
low complexity region	272	287	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000125134

SMART Domains

Protein: ENSMUSP00000133636
Gene: ENSMUSG00000032921

Domain	Start	End	E-Value	Type
transmembrane domain	41	63	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000130271

SMART Domains

Protein: ENSMUSP00000134383
Gene: ENSMUSG00000032921

Domain	Start	End	E-Value	Type
transmembrane domain	42	64	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000156828

SMART Domains

Protein: ENSMUSP00000133569
Gene: ENSMUSG00000032921

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,057,185 (GRCm39)	D104G	probably damaging	Het
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
Adcy2	T	C	13: 68,876,024 (GRCm39)	R493G	probably benign	Het
Adcy8	A	G	15: 64,609,287 (GRCm39)	I874T	probably benign	Het
Ano2	G	T	6: 125,957,087 (GRCm39)	E619*	probably null	Het
Apob	A	G	12: 8,056,456 (GRCm39)	K1613R	probably benign	Het
Arhgef10	T	A	8: 15,006,963 (GRCm39)	F476Y	probably damaging	Het
Bmf	G	A	2: 118,377,283 (GRCm39)	A74V	probably damaging	Het
Cadps	T	C	14: 12,467,139 (GRCm38)	E925G	possibly damaging	Het
Ccdc162	T	C	10: 41,557,682 (GRCm39)	D181G	possibly damaging	Het
Ccdc85c	A	T	12: 108,173,434 (GRCm39)	C387S	probably benign	Het
Cntnap5a	T	C	1: 116,374,410 (GRCm39)	V974A	possibly damaging	Het
Cplx3	T	A	9: 57,516,483 (GRCm39)	I407F	probably damaging	Het
Dnah7b	T	C	1: 46,250,488 (GRCm39)	F1703S	probably damaging	Het
Dsg3	C	A	18: 20,672,793 (GRCm39)	D821E	probably benign	Het
Ecel1	G	T	1: 87,080,668 (GRCm39)		probably null	Het
Edn1	A	T	13: 42,458,729 (GRCm39)		probably null	Het
Egfr	G	A	11: 16,808,980 (GRCm39)	C58Y	probably damaging	Het
Fam184a	T	C	10: 53,574,596 (GRCm39)	N282D	probably benign	Het
Fhit	T	A	14: 9,870,091 (GRCm38)	Q63L	probably damaging	Het
Gabarapl2	T	C	8: 112,669,150 (GRCm39)	V36A	probably benign	Het
Glis1	T	C	4: 107,424,842 (GRCm39)	V151A	probably benign	Het
Gm12695	A	G	4: 96,650,217 (GRCm39)	S210P	probably damaging	Het
Gpat4	TAGAAGA	TAGA	8: 23,672,865 (GRCm39)		probably benign	Het
H2-M10.4	G	A	17: 36,772,688 (GRCm39)	A98V	probably benign	Het
Hhat	C	A	1: 192,277,362 (GRCm39)	G366C	probably damaging	Het
Hydin	C	A	8: 111,189,154 (GRCm39)	A1186E	probably damaging	Het
Itgb2	T	A	10: 77,385,937 (GRCm39)		probably null	Het
Kank1	C	T	19: 25,387,398 (GRCm39)	A329V	possibly damaging	Het
Kdm4b	T	A	17: 56,708,675 (GRCm39)	S1070T	probably benign	Het
Kyat1	A	G	2: 30,078,277 (GRCm39)	Y101H	probably damaging	Het
Map4k5	T	C	12: 69,858,140 (GRCm39)	K679R	probably benign	Het
Mill1	A	T	7: 17,989,853 (GRCm39)	D45V	probably damaging	Het
Myo3a	T	A	2: 22,412,233 (GRCm39)	Y743N	probably damaging	Het
Nox4	C	G	7: 86,946,716 (GRCm39)	I137M	probably benign	Het
Ostf1	A	T	19: 18,558,652 (GRCm39)	D210E	probably damaging	Het
Paxip1	A	T	5: 27,966,675 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,578 (GRCm39)	T211A	probably benign	Het
Pla2g4f	A	G	2: 120,135,496 (GRCm39)	S393P	probably damaging	Het
Plppr3	T	C	10: 79,703,359 (GRCm39)	T42A	probably damaging	Het
Plxna4	C	A	6: 32,142,779 (GRCm39)	G1559W	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,308 (GRCm39)		probably null	Het
Prex1	C	T	2: 166,480,252 (GRCm39)	V163M	probably damaging	Het
Prl6a1	A	G	13: 27,500,307 (GRCm39)	T93A	probably benign	Het
Psg16	T	C	7: 16,824,459 (GRCm39)	V81A	probably benign	Het
Rbm33	A	T	5: 28,613,280 (GRCm39)		probably benign	Het
Rest	C	T	5: 77,423,090 (GRCm39)	P298L	possibly damaging	Het
Rhobtb3	G	A	13: 76,027,051 (GRCm39)	R441*	probably null	Het
Rims4	T	A	2: 163,706,914 (GRCm39)	K155*	probably null	Het
Rps6kb1	C	T	11: 86,410,713 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,707,532 (GRCm39)	D2835G	probably damaging	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Sell	A	T	1: 163,893,829 (GRCm39)	I175F	probably damaging	Het
Serpinb6d	A	G	13: 33,855,211 (GRCm39)	D295G	probably damaging	Het
Sphk1	A	G	11: 116,426,106 (GRCm39)	D96G	probably damaging	Het
Spns3	A	T	11: 72,428,096 (GRCm39)	V228D	probably damaging	Het
Sspo	A	G	6: 48,469,828 (GRCm39)	S4500G	probably damaging	Het
Syt9	T	A	7: 107,035,678 (GRCm39)	C232S	possibly damaging	Het
Terf1	A	G	1: 15,889,185 (GRCm39)	I176V	possibly damaging	Het
Tln2	C	T	9: 67,209,854 (GRCm39)	A428T	probably damaging	Het
Tmprss7	T	C	16: 45,499,711 (GRCm39)	N321S	probably benign	Het
Tomm40	A	G	7: 19,435,761 (GRCm39)	I323T	probably benign	Het
Try5	T	A	6: 41,288,233 (GRCm39)	Q240L	possibly damaging	Het
Vmn1r213	A	T	13: 23,195,800 (GRCm39)	I128L	probably benign	Het
Vmn2r80	T	C	10: 79,030,162 (GRCm39)	F663L	possibly damaging	Het
Znfx1	T	A	2: 166,880,950 (GRCm39)	Y278F	probably damaging	Het
Zpbp2	A	G	11: 98,442,117 (GRCm39)		probably benign	Het

Other mutations in Odf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Odf4	APN	11	68,812,778 (GRCm39)	unclassified	probably benign
IGL01782:Odf4	APN	11	68,817,459 (GRCm39)	missense	probably damaging	0.98
BB006:Odf4	UTSW	11	68,813,759 (GRCm39)	missense	possibly damaging	0.80
BB016:Odf4	UTSW	11	68,813,759 (GRCm39)	missense	possibly damaging	0.80
R0030:Odf4	UTSW	11	68,817,767 (GRCm39)	missense	probably benign	0.33
R0030:Odf4	UTSW	11	68,817,767 (GRCm39)	missense	probably benign	0.33
R1945:Odf4	UTSW	11	68,812,983 (GRCm39)	missense	possibly damaging	0.53
R4551:Odf4	UTSW	11	68,812,866 (GRCm39)	missense	probably benign	0.02
R4552:Odf4	UTSW	11	68,812,866 (GRCm39)	missense	probably benign	0.02
R4707:Odf4	UTSW	11	68,817,514 (GRCm39)	missense	probably damaging	1.00
R5163:Odf4	UTSW	11	68,813,672 (GRCm39)	missense	probably damaging	1.00
R6657:Odf4	UTSW	11	68,817,638 (GRCm39)	missense	probably benign	0.12
R7073:Odf4	UTSW	11	68,817,514 (GRCm39)	missense	probably damaging	1.00
R7508:Odf4	UTSW	11	68,813,249 (GRCm39)	missense	possibly damaging	0.71
R7778:Odf4	UTSW	11	68,812,898 (GRCm39)	missense	probably benign	0.01
R7824:Odf4	UTSW	11	68,812,898 (GRCm39)	missense	probably benign	0.01
R7929:Odf4	UTSW	11	68,813,759 (GRCm39)	missense	possibly damaging	0.80
R9425:Odf4	UTSW	11	68,813,810 (GRCm39)	missense	probably benign
X0025:Odf4	UTSW	11	68,817,616 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CACCTAAGAATTGCACAGGGG -3'
(R):5'- TGGTTCCAGACAACCTGAGC -3'

Sequencing Primer
(F):5'- TCATCTGCCGAGCCTACAG -3'
(R):5'- GCTTGCAGAGAATGCCT -3'

Posted On

2016-06-28