Mutagenetix > Incidental Mutations

Incidental Mutation 'R6657:Odf4'

526673

Institutional Source

Beutler Lab

Gene Symbol

Odf4

Ensembl Gene

ENSMUSG00000032921

Gene Name

outer dense fiber of sperm tails 4

Synonyms

Oppo1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68921835-68927081 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68926812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 18 (N18D)

Ref Sequence

ENSEMBL: ENSMUSP00000134383 (fasta)

Gene Model

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

AlphaFold

Q8VI88

Predicted Effect

probably benign
Transcript: ENSMUST00000038932
AA Change: N18D

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921
AA Change: N18D

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
AA Change: N17D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133636
Gene: ENSMUSG00000032921
AA Change: N17D

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
AA Change: N18D

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134383
Gene: ENSMUSG00000032921
AA Change: N18D

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

Predicted Effect

unknown
Transcript: ENSMUST00000156828
AA Change: N2D

SMART Domains

Protein: ENSMUSP00000133569
Gene: ENSMUSG00000032921
AA Change: N2D

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

Meta Mutation Damage Score

0.0680

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 105,708,818	L36R	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,416,200	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Chst5	C	T	8: 111,890,274	R238Q	probably benign	Het
Cpxm2	T	C	7: 132,049,077	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,964,994	E405G	possibly damaging	Het
Ctsh	A	T	9: 90,060,502	M37L	probably benign	Het
Eml5	T	G	12: 98,791,405	I1843L	probably damaging	Het
Ep400	C	A	5: 110,693,545		probably benign	Het
Fbln2	A	G	6: 91,259,750	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,370,198	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,758	D230G	possibly damaging	Het
Itga5	T	C	15: 103,350,795	D735G	probably damaging	Het
Kansl2	T	A	15: 98,524,670	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,492,053	M1078K	probably benign	Het
Mmp24	A	T	2: 155,798,179	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,702,500	C743*	probably null	Het
Myh14	T	C	7: 44,637,846	N618D	probably damaging	Het
Myo19	A	T	11: 84,897,196	M324L	probably benign	Het
Nectin2	T	C	7: 19,738,140	N108S	probably benign	Het
Nrg2	A	G	18: 36,196,589	I191T	probably damaging	Het
Olfr1109	T	A	2: 87,093,059	I113F	probably benign	Het
Pcsk2	T	G	2: 143,690,366	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,022	Q894H	probably benign	Het
Pfpl	G	A	19: 12,429,926	V514I	probably benign	Het
Plbd1	A	T	6: 136,617,252	M333K	probably damaging	Het
Plec	A	T	15: 76,178,156	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,614,383	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,759,496	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Sec16a	C	T	2: 26,425,864	W262*	probably null	Het
Sfmbt1	A	G	14: 30,766,096	D8G	possibly damaging	Het
Sptbn5	T	G	2: 120,076,400		probably benign	Het
Sqor	A	G	2: 122,807,594	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,607,261	T139S	probably benign	Het
Tcp11	G	A	17: 28,071,672	P159S	probably damaging	Het
Tmem262	A	G	19: 6,080,512	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 52,043,783	T50N	probably damaging	Het
Ttll9	T	C	2: 152,984,262	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,702,895	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 10,159,163	T683I	probably damaging	Het
Vps53	A	T	11: 76,134,427	I197N	probably damaging	Het
Washc4	T	A	10: 83,558,618	F269L	possibly damaging	Het
Wdfy4	C	T	14: 33,047,251	V2086M	possibly damaging	Het
Zfp592	A	T	7: 81,025,486	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,250,242	F209S	probably damaging	Het

Other mutations in Odf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Odf4	APN	11	68921952	unclassified	probably benign
IGL01782:Odf4	APN	11	68926633	missense	probably damaging	0.98
BB006:Odf4	UTSW	11	68922933	missense	possibly damaging	0.80
BB016:Odf4	UTSW	11	68922933	missense	possibly damaging	0.80
R0030:Odf4	UTSW	11	68926941	missense	probably benign	0.33
R0030:Odf4	UTSW	11	68926941	missense	probably benign	0.33
R1945:Odf4	UTSW	11	68922157	missense	possibly damaging	0.53
R4551:Odf4	UTSW	11	68922040	missense	probably benign	0.02
R4552:Odf4	UTSW	11	68922040	missense	probably benign	0.02
R4685:Odf4	UTSW	11	68922839	critical splice donor site	probably null
R4707:Odf4	UTSW	11	68926688	missense	probably damaging	1.00
R5163:Odf4	UTSW	11	68922846	missense	probably damaging	1.00
R7073:Odf4	UTSW	11	68926688	missense	probably damaging	1.00
R7508:Odf4	UTSW	11	68922423	missense	possibly damaging	0.71
R7778:Odf4	UTSW	11	68922072	missense	probably benign	0.01
R7824:Odf4	UTSW	11	68922072	missense	probably benign	0.01
R7929:Odf4	UTSW	11	68922933	missense	possibly damaging	0.80
R9425:Odf4	UTSW	11	68922984	missense	probably benign
X0025:Odf4	UTSW	11	68926790	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TAGCGCTGATGGAAACGACTC -3'
(R):5'- TCTTGGATCTGGAGCTCAGG -3'

Sequencing Primer
(F):5'- CTTAGAGGGATACAACCATTTCTTGG -3'
(R):5'- ATTCTTGCTCAGACACTAGGC -3'

Posted On

2018-07-23