Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Ropn1'

278594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ropn1

Ensembl Gene

ENSMUSG00000022832

Gene Name

ropporin, rhophilin associated protein 1

Synonyms

ODF6, 1700008N21Rik, ropporin, RHPNAP1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

34470291-34498988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34487141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 26 (I26F)

Ref Sequence

ENSEMBL: ENSMUSP00000122122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023530] [ENSMUST00000148562]

AlphaFold

Q9ESG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023530
AA Change: I26F

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

SMART Domains

Protein: ENSMUSP00000023530
Gene: ENSMUSG00000022832
AA Change: I26F

Domain	Start	End	E-Value	Type
PDB:2KYG\|B	6	41	3e-6	PDB
SCOP:d1r2aa_	10	44	5e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000148562
AA Change: I26F

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

SMART Domains

Protein: ENSMUSP00000122122
Gene: ENSMUSG00000022832
AA Change: I26F

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	43	2.9e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231612

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced sperm motility and reduced male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,332,633 (GRCm39)		probably benign	Het
4921524J17Rik	T	C	8: 86,138,871 (GRCm39)	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,669,429 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,939,867 (GRCm39)	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,781 (GRCm39)	Y320C	probably damaging	Het
Acp6	T	A	3: 97,083,036 (GRCm39)	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,235,978 (GRCm39)	Q478K	probably damaging	Het
Akap13	A	G	7: 75,369,928 (GRCm39)	I1843V	possibly damaging	Het
Akap13	A	T	7: 75,397,353 (GRCm39)	I2528F	probably damaging	Het
Akap9	G	A	5: 4,082,839 (GRCm39)	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,390,508 (GRCm39)	V490M	probably damaging	Het
Aspm	C	T	1: 139,417,408 (GRCm39)	R1537*	probably null	Het
Bmf	G	A	2: 118,379,639 (GRCm39)	P46S	probably benign	Het
Brf1	T	A	12: 112,951,703 (GRCm39)	H92L	probably benign	Het
Chchd1	A	G	14: 20,753,245 (GRCm39)	N35S	probably benign	Het
Cntnap3	C	T	13: 64,905,115 (GRCm39)	G889S	probably damaging	Het
Col6a4	T	C	9: 105,924,906 (GRCm39)		probably benign	Het
Crispld1	A	G	1: 17,816,949 (GRCm39)		probably null	Het
Ddx27	T	C	2: 166,863,964 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 139,097,504 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,814,166 (GRCm39)	V1461A	probably damaging	Het
Drc7	C	T	8: 95,804,430 (GRCm39)	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,935,742 (GRCm39)	E13G	probably damaging	Het
Egf	A	G	3: 129,499,909 (GRCm39)		probably benign	Het
Hpse2	T	C	19: 43,373,228 (GRCm39)	S134G	probably benign	Het
Hydin	A	G	8: 111,284,345 (GRCm39)	T3206A	probably benign	Het
Ier5l	T	A	2: 30,363,966 (GRCm39)	S20C	probably damaging	Het
Il1r1	A	G	1: 40,341,560 (GRCm39)	E324G	probably benign	Het
Kdm4b	C	T	17: 56,660,522 (GRCm39)		probably benign	Het
Lztfl1	T	A	9: 123,529,156 (GRCm39)	E298D	probably benign	Het
Myo1b	A	T	1: 51,815,405 (GRCm39)	M647K	probably damaging	Het
Or13a25	C	T	7: 140,247,584 (GRCm39)	A128V	probably damaging	Het
Or52z14	A	T	7: 103,253,274 (GRCm39)	T138S	probably benign	Het
Or5j1	G	T	2: 86,878,632 (GRCm39)		probably benign	Het
Parvb	A	T	15: 84,187,666 (GRCm39)	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pcnx2	C	A	8: 126,566,372 (GRCm39)	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,122,646 (GRCm39)		probably benign	Het
Pgr	A	T	9: 8,903,692 (GRCm39)	H571L	possibly damaging	Het
Phf20	G	T	2: 156,144,809 (GRCm39)	E806*	probably null	Het
Pilra	T	A	5: 137,833,803 (GRCm39)	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,480,622 (GRCm39)	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,318,705 (GRCm39)	N708S	probably benign	Het
Resf1	C	T	6: 149,230,449 (GRCm39)	T1165M	probably benign	Het
Rnase4	A	T	14: 51,342,378 (GRCm39)	Y34F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,443,699 (GRCm39)	T85S	probably benign	Het
Scaf8	C	T	17: 3,246,124 (GRCm39)	P738S	probably damaging	Het
Sec31a	A	T	5: 100,550,217 (GRCm39)		probably benign	Het
Sel1l	C	T	12: 91,784,064 (GRCm39)	V459I	probably damaging	Het
Senp7	A	T	16: 55,996,186 (GRCm39)	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,381,985 (GRCm39)	K151N	probably benign	Het
Slc8a3	A	G	12: 81,362,576 (GRCm39)	F81S	probably damaging	Het
Spire2	T	A	8: 124,083,502 (GRCm39)	L162Q	probably damaging	Het
Syt17	A	G	7: 118,033,216 (GRCm39)	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,923,018 (GRCm39)	V379D	probably damaging	Het
Tenm3	A	T	8: 48,707,512 (GRCm39)	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,630,501 (GRCm39)		noncoding transcript	Het
Ttc13	T	C	8: 125,403,083 (GRCm39)	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,255,529 (GRCm39)	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 23,011,977 (GRCm39)	V103E	probably damaging	Het
Vmn1r80	A	G	7: 11,927,307 (GRCm39)	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,940,670 (GRCm39)	F141Y	probably damaging	Het
Zfp143	T	A	7: 109,673,333 (GRCm39)	Y143*	probably null	Het
Zfp207	T	A	11: 80,276,796 (GRCm39)	C26S	probably damaging	Het

Other mutations in Ropn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Ropn1	APN	16	34,498,790 (GRCm39)	missense	probably damaging	1.00
IGL01487:Ropn1	APN	16	34,498,839 (GRCm39)	missense	probably damaging	1.00
IGL01634:Ropn1	APN	16	34,487,141 (GRCm39)	missense	probably damaging	1.00
IGL01634:Ropn1	APN	16	34,487,148 (GRCm39)	missense	possibly damaging	0.95
IGL02125:Ropn1	APN	16	34,487,147 (GRCm39)	missense	probably benign	0.32
IGL02312:Ropn1	APN	16	34,497,647 (GRCm39)	missense	probably benign	0.01
R0411:Ropn1	UTSW	16	34,490,334 (GRCm39)	missense	probably benign	0.19
R4249:Ropn1	UTSW	16	34,498,826 (GRCm39)	nonsense	probably null
R4680:Ropn1	UTSW	16	34,497,675 (GRCm39)	missense	possibly damaging	0.56
R5078:Ropn1	UTSW	16	34,487,161 (GRCm39)	missense	probably damaging	1.00
R5440:Ropn1	UTSW	16	34,491,542 (GRCm39)	missense	probably benign	0.00
R5441:Ropn1	UTSW	16	34,487,167 (GRCm39)	missense	probably damaging	0.99
R6895:Ropn1	UTSW	16	34,497,668 (GRCm39)	missense	possibly damaging	0.82

Posted On

2015-04-16