Mutagenetix > Incidental Mutation

Incidental Mutation 'R4551:Odf4'

333969

Institutional Source

Beutler Lab

Gene Symbol

Odf4

Ensembl Gene

ENSMUSG00000032921

Gene Name

outer dense fiber of sperm tails 4

Synonyms

Oppo1

MMRRC Submission

041782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68812661-68817907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68812866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 264 (S264N)

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: S264N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921
AA Change: S264N

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (71/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	G	11: 119,902,395 (GRCm39)	E610A	probably benign	Het
Abhd17b	T	C	19: 21,658,290 (GRCm39)	S176P	possibly damaging	Het
Adgrg7	A	G	16: 56,568,375 (GRCm39)	Y427H	probably damaging	Het
Alox15	T	A	11: 70,235,422 (GRCm39)	I647L	probably benign	Het
Ankhd1	C	A	18: 36,788,560 (GRCm39)		probably null	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Armcx5	T	A	X: 134,647,256 (GRCm39)	V444D	probably damaging	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Cog6	T	A	3: 52,905,741 (GRCm39)	E96V	probably damaging	Het
Cox20	A	C	1: 178,150,114 (GRCm39)	N96T	probably benign	Het
Cpa3	T	C	3: 20,273,934 (GRCm39)	I351V	probably benign	Het
Cpd	C	T	11: 76,702,712 (GRCm39)	G552D	probably damaging	Het
Cyld	A	G	8: 89,433,762 (GRCm39)	K184E	possibly damaging	Het
Dab2	G	A	15: 6,464,775 (GRCm39)	G324D	probably damaging	Het
Depdc1a	T	A	3: 159,228,221 (GRCm39)	D324E	probably damaging	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dync1i1	T	A	6: 5,923,206 (GRCm39)	D275E	probably benign	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Farp2	T	A	1: 93,546,314 (GRCm39)	L868Q	possibly damaging	Het
Gpr45	A	G	1: 43,071,950 (GRCm39)	T198A	probably benign	Het
Grk2	C	T	19: 4,336,084 (GRCm39)	V402M	possibly damaging	Het
Gsap	A	T	5: 21,495,569 (GRCm39)	D79V	probably damaging	Het
Gtf2h3	A	G	5: 124,728,482 (GRCm39)		probably benign	Het
Hus1b	C	A	13: 31,131,059 (GRCm39)	S200I	probably damaging	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ikbke	T	C	1: 131,185,770 (GRCm39)		probably benign	Het
Kat6b	A	G	14: 21,711,516 (GRCm39)	E670G	probably damaging	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Lhx3	G	A	2: 26,091,202 (GRCm39)	P369L	probably damaging	Het
Man2c1	T	C	9: 57,038,445 (GRCm39)	L35P	probably damaging	Het
Mical2	T	A	7: 111,981,123 (GRCm39)	S366T	possibly damaging	Het
Mroh9	A	T	1: 162,871,662 (GRCm39)	I607N	probably damaging	Het
Mybphl	T	C	3: 108,281,479 (GRCm39)	I65T	possibly damaging	Het
Myo1g	A	G	11: 6,467,874 (GRCm39)	I187T	probably damaging	Het
Myo7b	T	C	18: 32,118,161 (GRCm39)	S822G	probably benign	Het
Nkx2-4	C	A	2: 146,926,842 (GRCm39)	A142S	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or12k7	G	T	2: 36,958,355 (GRCm39)	V13L	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or56b1	A	T	7: 104,285,631 (GRCm39)	H250L	probably damaging	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pcdhb16	T	C	18: 37,612,887 (GRCm39)	F616L	probably damaging	Het
Pdk3	A	T	X: 92,825,846 (GRCm39)	M253K	probably damaging	Het
Pgap2	C	A	7: 101,875,674 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,414,281 (GRCm39)	N2849K	probably damaging	Het
Pprc1	A	G	19: 46,055,664 (GRCm39)		probably benign	Het
Psma2	A	G	13: 14,791,430 (GRCm39)	Y25C	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptpn5	C	A	7: 46,740,600 (GRCm39)		probably benign	Het
Pxn	G	T	5: 115,690,779 (GRCm39)		probably benign	Het
Scd3	C	A	19: 44,203,878 (GRCm39)	A22E	probably benign	Het
Sdr42e1	T	C	8: 118,390,347 (GRCm39)	E98G	probably benign	Het
Slc14a2	A	C	18: 78,239,068 (GRCm39)	S184A	probably benign	Het
Tmem236	A	T	2: 14,223,964 (GRCm39)	Q251L	probably benign	Het
Trappc8	T	C	18: 21,007,729 (GRCm39)	T129A	probably benign	Het
Vmn1r90	A	C	7: 14,295,894 (GRCm39)	M68R	possibly damaging	Het
Vmn2r105	A	G	17: 20,446,613 (GRCm39)	V462A	probably benign	Het
Vmn2r7	T	C	3: 64,598,110 (GRCm39)	T816A	possibly damaging	Het
Vmn2r81	T	A	10: 79,104,241 (GRCm39)	I288K	possibly damaging	Het
Zfp180	A	C	7: 23,803,998 (GRCm39)	K139T	possibly damaging	Het
Zfp932	T	C	5: 110,157,505 (GRCm39)	V401A	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
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
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'- TTCCACATCACCTGAGCCA -3'
(R):5'- ACCTTCCATGCCACTTTCAG -3'

Sequencing Primer
(F):5'- CCACAGACAAAGCCAAGTTGAGG -3'
(R):5'- ATGCCACTTTCAGATTCCCC -3'

Posted On

2015-08-18