Mutagenetix > Incidental Mutation

Incidental Mutation 'R7073:Odf4'

549049

Institutional Source

Beutler Lab

Gene Symbol

Odf4

Ensembl Gene

ENSMUSG00000032921

Gene Name

outer dense fiber of sperm tails 4

Synonyms

Oppo1

MMRRC Submission

045169-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68812661-68817907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68817514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 58 (L58P)

Ref Sequence

ENSEMBL: ENSMUSP00000133636 (fasta)

Gene Model

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

AlphaFold

Q8VI88

Predicted Effect

probably damaging
Transcript: ENSMUST00000038932
AA Change: L59P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921
AA Change: L59P

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 damaging
Transcript: ENSMUST00000125134
AA Change: L58P

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

SMART Domains

Protein: ENSMUSP00000133636
Gene: ENSMUSG00000032921
AA Change: L58P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130271
AA Change: L59P

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

SMART Domains

Protein: ENSMUSP00000134383
Gene: ENSMUSG00000032921
AA Change: L59P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156828
AA Change: L43P

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

SMART Domains

Protein: ENSMUSP00000133569
Gene: ENSMUSG00000032921
AA Change: L43P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,709,593 (GRCm39)	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,363,335 (GRCm39)	D505E	probably benign	Het
Ano1	C	T	7: 144,192,289 (GRCm39)	E361K	probably damaging	Het
Arap3	T	A	18: 38,107,495 (GRCm39)	K1341*	probably null	Het
Arhgef17	A	C	7: 100,579,198 (GRCm39)	Y583*	probably null	Het
Ash1l	G	A	3: 88,892,647 (GRCm39)	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,271,681 (GRCm39)	R21S	unknown	Het
Bbof1	A	G	12: 84,473,609 (GRCm39)	E313G	probably damaging	Het
Catsperb	C	T	12: 101,475,497 (GRCm39)	T347I	probably benign	Het
Ccdc24	G	T	4: 117,729,201 (GRCm39)	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,249,073 (GRCm39)	T419A	probably benign	Het
Ccdc7a	C	T	8: 129,618,866 (GRCm39)	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,330 (GRCm39)	D537E	probably benign	Het
Cd276	T	C	9: 58,444,615 (GRCm39)	S119G	probably damaging	Het
Cdkn3	T	C	14: 47,004,647 (GRCm39)	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,861,266 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,581,247 (GRCm39)	F10Y	probably damaging	Het
Cep290	A	T	10: 100,374,865 (GRCm39)	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,176,049 (GRCm39)	I645F	probably damaging	Het
Cul7	T	C	17: 46,969,657 (GRCm39)	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,471,826 (GRCm39)	E324A	probably benign	Het
Diaph1	T	G	18: 38,022,867 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,321,318 (GRCm39)	R3917*	probably null	Het
Dnph1	T	A	17: 46,807,815 (GRCm39)	L27Q	probably damaging	Het
Duox2	A	G	2: 122,119,788 (GRCm39)	F880S	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Enpep	A	T	3: 129,106,319 (GRCm39)	Y302*	probably null	Het
Ergic2	G	T	6: 148,096,707 (GRCm39)	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,453,031 (GRCm39)	D12G	probably benign	Het
Fbxw16	A	T	9: 109,270,123 (GRCm39)	V206D	probably damaging	Het
Fhod1	A	T	8: 106,063,771 (GRCm39)	V278D	unknown	Het
Gba2	G	C	4: 43,573,753 (GRCm39)	Q180E	probably damaging	Het
Grhl3	G	A	4: 135,300,723 (GRCm39)	L5F	probably benign	Het
H2-T15	A	T	17: 36,369,235 (GRCm39)	C7S	unknown	Het
Ifit1bl1	C	T	19: 34,576,667 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,584,230 (GRCm39)	T413A	probably benign	Het
Itga2	A	G	13: 114,996,149 (GRCm39)	F714S	probably damaging	Het
Jmy	A	G	13: 93,577,841 (GRCm39)	S776P	probably benign	Het
Kbtbd8	G	A	6: 95,098,814 (GRCm39)	A108T	probably damaging	Het
Kpna6	G	A	4: 129,548,139 (GRCm39)	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,159,397 (GRCm39)	L439F	possibly damaging	Het
Lrrc1	T	A	9: 77,375,847 (GRCm39)	I147F	probably benign	Het
Lrrc7	C	T	3: 157,832,884 (GRCm39)	G1425R	probably damaging	Het
Madd	T	A	2: 90,992,854 (GRCm39)	I1022F	probably damaging	Het
Map2k2	A	T	10: 80,942,017 (GRCm39)	T13S	probably benign	Het
Mdc1	G	A	17: 36,164,960 (GRCm39)	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,760,719 (GRCm39)	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,845,088 (GRCm39)	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,965,411 (GRCm39)	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,455,177 (GRCm39)	I2574F	probably damaging	Het
Nr1d1	T	G	11: 98,662,892 (GRCm39)	S34R	probably damaging	Het
Nr3c1	A	T	18: 39,619,449 (GRCm39)	D279E	probably benign	Het
Nrde2	T	C	12: 100,098,747 (GRCm39)	D640G	probably benign	Het
Or4k41	A	T	2: 111,279,631 (GRCm39)	I49F	probably benign	Het
Or4p22	A	T	2: 88,317,651 (GRCm39)	I192F	probably benign	Het
Otud6b	A	C	4: 14,811,743 (GRCm39)	M300R	probably damaging	Het
Pamr1	T	A	2: 102,471,280 (GRCm39)	D534E	probably benign	Het
Pcdh7	T	A	5: 57,878,299 (GRCm39)	V618E	probably benign	Het
Pcgf6	A	C	19: 47,031,226 (GRCm39)	N266K	possibly damaging	Het
Plcz1	A	T	6: 139,968,849 (GRCm39)	Y196*	probably null	Het
Plxna1	A	T	6: 89,334,311 (GRCm39)	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,337,701 (GRCm39)	A184V	probably damaging	Het
Rimkla	A	G	4: 119,325,275 (GRCm39)	L378S	probably benign	Het
Rufy1	G	T	11: 50,295,290 (GRCm39)	H472Q	probably benign	Het
Samd7	T	A	3: 30,810,631 (GRCm39)	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856 (GRCm39)	Y468*	probably null	Het
Scn2a	T	G	2: 65,558,787 (GRCm39)	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,056,944 (GRCm39)	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,378,755 (GRCm39)	H642Q	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
St6galnac3	T	A	3: 153,117,274 (GRCm39)	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,911 (GRCm39)	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,224,758 (GRCm39)	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,116,527 (GRCm39)		probably null	Het
Ttc28	T	C	5: 111,371,282 (GRCm39)	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 23,754,926 (GRCm39)	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,261,778 (GRCm39)	T107A	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Zfp516	T	A	18: 83,006,325 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,443,335 (GRCm39)	D56G	probably damaging	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
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'- AGGAACTCACCTTCTCCGTTG -3'
(R):5'- TAGGCCTGTGATGGAACCTG -3'

Sequencing Primer
(F):5'- CTTCTCCGTTGTCTGAGCTGG -3'
(R):5'- CCTGTGATGGAACCTGACTTGAATG -3'

Posted On

2019-05-15