Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Rom1'

448813

Institutional Source

Beutler Lab

Gene Symbol

Rom1

Ensembl Gene

ENSMUSG00000071648

Gene Name

rod outer segment membrane protein 1

Synonyms

Rgsc1156, Tspan23, Rom-1, M101156

MMRRC Submission

043391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8927382-8929356 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8928824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 117 (L117P)

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

probably damaging
Transcript: ENSMUST00000096242
AA Change: L117P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093961
Gene: ENSMUSG00000071648
AA Change: L117P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,950,964	D383V	probably damaging	Het
Abca4	A	T	3: 122,054,232	L67F	probably damaging	Het
Abcc9	C	A	6: 142,656,676		probably null	Het
Atp2a3	T	C	11: 72,972,882	V175A	probably damaging	Het
B3galt4	T	A	17: 33,950,757	D169V	probably damaging	Het
Bsn	C	T	9: 108,113,009	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,734,244	E90G	probably damaging	Het
Cdon	T	A	9: 35,454,420	I155N	probably damaging	Het
Cep70	A	G	9: 99,296,405	N519D	probably damaging	Het
Clgn	T	C	8: 83,425,614	S582P	probably damaging	Het
Cnga3	T	C	1: 37,260,925	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,811,453	T764M	probably benign	Het
Dis3	A	T	14: 99,099,664	S4T	probably damaging	Het
Dlgap1	T	C	17: 70,766,091		probably null	Het
Dnah17	C	T	11: 118,036,446	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,284,739	Y286H	probably benign	Het
Dynap	T	A	18: 70,241,002	D151V	unknown	Het
Ednrb	A	G	14: 103,821,714	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,479,036	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582	F324S	probably benign	Het
Fbxw11	T	A	11: 32,711,790	S56T	probably benign	Het
Gm13178	T	A	4: 144,703,636	D261V	probably damaging	Het
Gm14409	T	C	2: 177,265,256	T150A	possibly damaging	Het
Gm17535	G	C	9: 3,035,758	V209L	probably benign	Homo
Gm20767	G	A	13: 120,154,913	S96N	possibly damaging	Het
Gm5592	C	T	7: 41,219,105		probably benign	Het
Gm7030	A	G	17: 36,111,287		probably benign	Het
Gpr137	C	T	19: 6,942,005	W51*	probably null	Het
Hbb-bs	T	C	7: 103,826,672	Y146C	probably damaging	Het
Herc1	G	T	9: 66,462,878	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,665,056	N309K	unknown	Het
Hydin	A	T	8: 110,452,060	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,022,894	V133A	probably benign	Het
Lats2	A	T	14: 57,694,418	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,049,289	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,415,681	H664P	probably benign	Het
Lypd6	C	T	2: 50,173,601	T40I	probably benign	Het
Nbeal1	A	T	1: 60,272,221	T1817S	probably benign	Het
Nub1	A	C	5: 24,702,441	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,309,876	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,788,377	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,745,936	Y32H	probably damaging	Het
Raph1	T	C	1: 60,488,673	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,161,433	T859A	probably benign	Het
Senp6	T	C	9: 80,118,644		probably benign	Het
Sirpb1c	T	C	3: 15,832,076	M379V	probably benign	Het
Slc6a4	C	T	11: 77,019,236	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929	R141L	probably damaging	Het
Stk10	C	T	11: 32,596,748	P335L	probably benign	Het
Tecpr1	A	T	5: 144,206,546	N670K	probably benign	Het
Tgds	T	C	14: 118,132,707	E8G	probably benign	Het
Tmem129	A	G	5: 33,657,716	S38P	probably damaging	Het
Trappc9	T	C	15: 72,685,339	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236		probably benign	Het
Wapl	A	G	14: 34,692,320	T380A	probably damaging	Het
Xylt1	A	T	7: 117,656,691	T829S	probably benign	Het
Zc3h6	C	T	2: 129,015,559	P666L	possibly damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Rom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Rom1	APN	19	8928004	missense	probably benign	0.30
IGL02118:Rom1	APN	19	8929022	missense	possibly damaging	0.92
R0800:Rom1	UTSW	19	8928908	missense	probably damaging	0.99
R4555:Rom1	UTSW	19	8928016	missense	possibly damaging	0.89
R6992:Rom1	UTSW	19	8929205	unclassified	probably benign
R8248:Rom1	UTSW	19	8928681	missense	probably damaging	1.00
R8403:Rom1	UTSW	19	8927880	missense	probably benign	0.03
R8515:Rom1	UTSW	19	8929101	missense	probably damaging	1.00
R8833:Rom1	UTSW	19	8928107	missense	possibly damaging	0.84
X0067:Rom1	UTSW	19	8929136	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAATCCTTGTAGCCATGGC -3'
(R):5'- TCACCCTCCTTTGTAGCGGG -3'

Sequencing Primer
(F):5'- CGCCCGCAGCAATGGTAC -3'
(R):5'- TGGCACCTTCCTGGCAC -3'

Posted On

2016-12-15