Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02118:Rom1'

280484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rom1

Ensembl Gene

ENSMUSG00000071648

Gene Name

rod outer segment membrane protein 1

Synonyms

M101156, Rgsc1156, Tspan23, Rom-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

8904755-8906720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8906386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 51 (T51N)

Ref Sequence

ENSEMBL: ENSMUSP00000093961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000096242] [ENSMUST00000096243] [ENSMUST00000224272]

AlphaFold

P32958

Predicted Effect

probably benign
Transcript: ENSMUST00000096241

SMART Domains

Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647

Domain	Start	End	E-Value	Type
coiled coil region	12	47	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	118	139	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
Pfam:HELP	215	286	5.3e-30	PFAM
WD40	295	344	6.34e-2	SMART
Blast:WD40	347	392	5e-22	BLAST
WD40	395	434	1.56e-1	SMART
WD40	450	487	2.64e2	SMART
WD40	504	543	3.33e-1	SMART
WD40	587	626	2.69e-5	SMART
WD40	670	709	1.7e-2	SMART
WD40	716	755	1.52e-4	SMART
WD40	829	869	1.29e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096242
AA Change: T51N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093961
Gene: ENSMUSG00000071648
AA Change: T51N

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Tetraspannin	17	291	1e-18	PFAM
low complexity region	331	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096243

SMART Domains

Protein: ENSMUSP00000093962
Gene: ENSMUSG00000071649

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	58	75	N/A	INTRINSIC
Pfam:Glyco_transf_43	96	312	1.8e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224272

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit large retinal discs, disorganized outer segments, gradual loss of rod photoreceptors by apoptosis, and diminished photo responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,758,865 (GRCm39)	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,291,433 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,704,728 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790 (GRCm39)	K243*	probably null	Het
Arfgap1	T	C	2: 180,622,237 (GRCm39)	F274S	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cask	T	C	X: 13,425,634 (GRCm39)	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,942 (GRCm39)	G150S	probably benign	Het
Cpne1	T	G	2: 155,919,563 (GRCm39)	D278A	possibly damaging	Het
Gcn1	A	G	5: 115,748,938 (GRCm39)	E1856G	probably damaging	Het
Gm8362	A	T	14: 18,149,595 (GRCm39)	V159E	probably damaging	Het
Golga5	A	G	12: 102,462,011 (GRCm39)	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,309,334 (GRCm39)	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,760,037 (GRCm39)	K24R	possibly damaging	Het
Morc1	T	C	16: 48,407,467 (GRCm39)	L661P	probably benign	Het
Per2	G	A	1: 91,352,031 (GRCm39)	T825I	probably damaging	Het
Plscr1l1	A	T	9: 92,233,011 (GRCm39)	K45*	probably null	Het
Pramel20	A	T	4: 143,297,726 (GRCm39)	T49S	probably benign	Het
Prkar2b	A	G	12: 32,025,963 (GRCm39)	V19A	probably damaging	Het
Psmb8	T	A	17: 34,420,198 (GRCm39)	D263E	probably damaging	Het
Pum2	T	C	12: 8,779,117 (GRCm39)	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,709 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,486 (GRCm39)	T559A	probably benign	Het
Rnf31	T	G	14: 55,836,569 (GRCm39)	I801S	probably damaging	Het
Sema6b	G	T	17: 56,439,821 (GRCm39)	P7T	probably benign	Het
Stpg1	A	G	4: 135,235,375 (GRCm39)		probably benign	Het
Sugct	A	T	13: 17,627,105 (GRCm39)	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,267,746 (GRCm39)	V317M	probably benign	Het
Tcea2	A	G	2: 181,327,628 (GRCm39)	I125V	probably benign	Het
Ttc39b	T	A	4: 83,216,186 (GRCm39)	D19V	probably damaging	Het
Tti2	T	A	8: 31,645,537 (GRCm39)		probably null	Het
Usp32	A	T	11: 84,923,003 (GRCm39)	Y142*	probably null	Het
Vill	A	G	9: 118,889,466 (GRCm39)	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp398	A	G	6: 47,835,879 (GRCm39)	D14G	probably damaging	Het
Zfp598	T	C	17: 24,896,591 (GRCm39)	Y223H	probably damaging	Het
Znhit6	G	T	3: 145,283,859 (GRCm39)	C43F	probably damaging	Het

Other mutations in Rom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Rom1	APN	19	8,905,368 (GRCm39)	missense	probably benign	0.30
R0800:Rom1	UTSW	19	8,906,272 (GRCm39)	missense	probably damaging	0.99
R4555:Rom1	UTSW	19	8,905,380 (GRCm39)	missense	possibly damaging	0.89
R5802:Rom1	UTSW	19	8,906,188 (GRCm39)	missense	probably damaging	0.99
R6992:Rom1	UTSW	19	8,906,569 (GRCm39)	unclassified	probably benign
R8248:Rom1	UTSW	19	8,906,045 (GRCm39)	missense	probably damaging	1.00
R8403:Rom1	UTSW	19	8,905,244 (GRCm39)	missense	probably benign	0.03
R8515:Rom1	UTSW	19	8,906,465 (GRCm39)	missense	probably damaging	1.00
R8833:Rom1	UTSW	19	8,905,471 (GRCm39)	missense	possibly damaging	0.84
X0067:Rom1	UTSW	19	8,906,500 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16