Mutagenetix > Incidental Mutation

Incidental Mutation 'R9425:Odf4'

712582

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9425 (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 68813810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

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: V126A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921
AA Change: V126A

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: V125A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133636
Gene: ENSMUSG00000032921
AA Change: V125A

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: V126A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134383
Gene: ENSMUSG00000032921
AA Change: V126A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,926,344 (GRCm39)	S1260T	probably damaging	Het
Adgra2	A	G	8: 27,576,094 (GRCm39)	I41V	probably benign	Het
Adgrf1	A	G	17: 43,621,274 (GRCm39)	I504V	possibly damaging	Het
Agtrap	A	G	4: 148,165,019 (GRCm39)	I136T	probably damaging	Het
Arhgef7	C	T	8: 11,867,736 (GRCm39)	T601I	probably damaging	Het
Asb7	T	C	7: 66,328,987 (GRCm39)	I18V	possibly damaging	Het
C1rl	T	C	6: 124,485,322 (GRCm39)	V231A	probably benign	Het
Cachd1	A	T	4: 100,832,057 (GRCm39)	T740S	probably benign	Het
Ccdc146	T	A	5: 21,508,135 (GRCm39)	I638F	probably damaging	Het
Ccser2	T	C	14: 36,601,163 (GRCm39)	N407S	probably benign	Het
Clec7a	G	A	6: 129,442,514 (GRCm39)	S126L	probably damaging	Het
Copb1	C	T	7: 113,848,182 (GRCm39)	G118R	probably damaging	Het
Cpne3	A	T	4: 19,525,148 (GRCm39)	M449K	probably damaging	Het
Cttnbp2	A	T	6: 18,423,880 (GRCm39)	C815S	probably damaging	Het
Cyp27b1	T	C	10: 126,886,006 (GRCm39)	L253P	probably damaging	Het
Cyp3a44	C	A	5: 145,740,548 (GRCm39)	G31*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dmgdh	A	T	13: 93,880,813 (GRCm39)	I748L	probably benign	Het
Drc1	T	A	5: 30,502,938 (GRCm39)	W154R	probably benign	Het
E330034G19Rik	T	A	14: 24,358,387 (GRCm39)		probably null	Het
Gbp7	T	A	3: 142,248,718 (GRCm39)	V327E	probably damaging	Het
Gm11564	G	A	11: 99,706,065 (GRCm39)	P122S	unknown	Het
Grid2ip	C	A	5: 143,367,435 (GRCm39)	S615R		Het
Kcp	T	A	6: 29,489,151 (GRCm39)	Q1045L	probably benign	Het
Lgals3bp	T	A	11: 118,284,751 (GRCm39)	E276V	probably damaging	Het
Lrit1	T	C	14: 36,784,208 (GRCm39)	V512A	possibly damaging	Het
Mecom	T	A	3: 30,039,597 (GRCm39)	H154L	probably benign	Het
Mmp14	C	A	14: 54,677,804 (GRCm39)	T475K	probably damaging	Het
Mmp1a	T	G	9: 7,476,210 (GRCm39)	F436V	probably damaging	Het
Notch4	A	G	17: 34,795,801 (GRCm39)	S830G	probably benign	Het
Oas1b	T	C	5: 120,955,693 (GRCm39)	L158P	probably benign	Het
Olfml2a	A	G	2: 38,847,721 (GRCm39)	T427A	probably damaging	Het
Or2b28	A	G	13: 21,531,473 (GRCm39)	Y125C	probably damaging	Het
Or4c102	C	A	2: 88,422,877 (GRCm39)	T243K	probably damaging	Het
Or5b121	C	T	19: 13,507,222 (GRCm39)	L106F	probably damaging	Het
Or6d12	G	A	6: 116,493,574 (GRCm39)	E279K	possibly damaging	Het
Or8b42	A	G	9: 38,342,286 (GRCm39)	K236R	possibly damaging	Het
Panx3	G	A	9: 37,572,393 (GRCm39)	H386Y	probably benign	Het
Papss1	C	A	3: 131,270,708 (GRCm39)	C8*	probably null	Het
Papss2	G	T	19: 32,615,750 (GRCm39)	V161L	possibly damaging	Het
Pcdh18	G	T	3: 49,709,051 (GRCm39)	H755N	possibly damaging	Het
Pilrb2	G	C	5: 137,866,964 (GRCm39)	H180D	probably benign	Het
Pla2g4f	T	C	2: 120,133,264 (GRCm39)	D645G	possibly damaging	Het
Pnlip	A	T	19: 58,669,290 (GRCm39)	K430*	probably null	Het
Ralbp1	C	A	17: 66,171,506 (GRCm39)	A156S	possibly damaging	Het
Rnf4	C	T	5: 34,508,641 (GRCm39)	R168C	probably benign	Het
Slc17a5	C	T	9: 78,484,457 (GRCm39)	G127E	probably damaging	Het
Slc22a27	A	T	19: 7,874,156 (GRCm39)	N306K	probably damaging	Het
Slc5a9	G	A	4: 111,734,803 (GRCm39)	R664C	probably damaging	Het
Slco1b2	T	A	6: 141,603,249 (GRCm39)	I210K	possibly damaging	Het
Snx16	C	T	3: 10,499,520 (GRCm39)	R170H	probably damaging	Het
Speer4e1	T	C	5: 14,987,136 (GRCm39)	I90V	possibly damaging	Het
Stxbp5l	T	C	16: 36,994,706 (GRCm39)	D733G	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,382 (GRCm39)	V254A	probably benign	Het
Tmf1	A	G	6: 97,149,293 (GRCm39)	F485L	probably benign	Het
Tnks	G	A	8: 35,340,819 (GRCm39)	L396F	probably damaging	Het
Trabd	T	C	15: 88,969,496 (GRCm39)	C230R	probably damaging	Het
Trp53rkb	C	T	2: 166,637,542 (GRCm39)	A166V	probably benign	Het
Upf1	A	T	8: 70,792,003 (GRCm39)	D418E	probably benign	Het
Ust	A	C	10: 8,205,873 (GRCm39)	S137A	probably damaging	Het
Zfp513	T	A	5: 31,357,695 (GRCm39)	H228L	possibly damaging	Het
Zfp827	C	A	8: 79,905,588 (GRCm39)	A855E	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
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
X0025:Odf4	UTSW	11	68,817,616 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGAGGAAATCAACCCCTCCTATCTC -3'
(R):5'- AGAGTGCAGTTCCTCACCTG -3'

Sequencing Primer
(F):5'- GGGCTAGGGAATTAAGAACCTTTTTC -3'
(R):5'- TGAATCCTGAGTTCCTCCC -3'

Posted On

2022-05-16