Mutagenetix > Incidental Mutation

Incidental Mutation 'R7824:Odf4'

602080

Institutional Source

Beutler Lab

Gene Symbol

Odf4

Ensembl Gene

ENSMUSG00000032921

Gene Name

outer dense fiber of sperm tails 4

Synonyms

Oppo1

MMRRC Submission

045878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68812661-68817907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68812898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 253 (S253R)

Ref Sequence

ENSEMBL: ENSMUSP00000040050 (fasta)

Gene Model

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

AlphaFold

Q8VI88

Predicted Effect

probably benign
Transcript: ENSMUST00000038932
AA Change: S253R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921
AA Change: S253R

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

probably benign
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

probably benign
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

probably benign
Transcript: ENSMUST00000156828

SMART Domains

Protein: ENSMUSP00000133569
Gene: ENSMUSG00000032921

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	C	15: 77,273,275 (GRCm39)	R396G	probably damaging	Het
Arhgap40	A	T	2: 158,376,666 (GRCm39)	R267S	probably damaging	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,457,448 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Farsb	T	C	1: 78,445,936 (GRCm39)	N148D	probably benign	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ica1l	T	G	1: 60,047,029 (GRCm39)	M241L	probably benign	Het
Ighg3	A	T	12: 113,323,426 (GRCm39)	D283E		Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Ism2	A	C	12: 87,326,634 (GRCm39)	V435G	probably damaging	Het
Klhdc2	A	G	12: 69,354,002 (GRCm39)	H271R	probably damaging	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Map3k21	C	G	8: 126,637,702 (GRCm39)	P96R	probably benign	Het
Mfge8	G	T	7: 78,795,135 (GRCm39)		probably null	Het
Mical2	T	A	7: 112,006,844 (GRCm39)	Y588N	probably damaging	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Mybpc2	G	A	7: 44,154,284 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Or6c5c	A	G	10: 129,298,665 (GRCm39)	N40S	probably damaging	Het
Ovch2	A	G	7: 107,388,295 (GRCm39)		probably null	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rin2	T	A	2: 145,703,037 (GRCm39)	S533T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Speg	T	A	1: 75,360,661 (GRCm39)		probably null	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tpgs2	G	T	18: 25,262,922 (GRCm39)	F232L	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Ubr5	A	T	15: 37,991,566 (GRCm39)	H1992Q	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Vwf	A	G	6: 125,635,778 (GRCm39)	K270E		Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	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
R4685:Odf4	UTSW	11	68,813,665 (GRCm39)	critical splice donor site	probably null
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
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'- GCAAAGCTGGTCCCCAAATC -3'
(R):5'- AGGCAGGCAAACCCTCTCTC -3'

Sequencing Primer
(F):5'- GGTCCCCAAATCCTCCTTTG -3'
(R):5'- AGGTGGTCTTAACCTTCCCTTTGG -3'

Posted On

2019-12-03