Incidental Mutation 'R4555:Rom1'
ID 341852
Institutional Source Beutler Lab
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 # R4555 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8904755-8906720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8905380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 267 (T267A)
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

DomainStartEndE-ValueType
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: T267A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093961
Gene: ENSMUSG00000071648
AA Change: T267A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,667,937 (GRCm39) probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Afp T G 5: 90,654,546 (GRCm39) I528S possibly damaging Het
Cul9 T C 17: 46,812,755 (GRCm39) D2407G possibly damaging Het
Cyp19a1 T C 9: 54,074,105 (GRCm39) E483G probably damaging Het
Dennd2c G A 3: 103,039,202 (GRCm39) V117I probably benign Het
Inha C T 1: 75,486,227 (GRCm39) P174L possibly damaging Het
Myo15a A G 11: 60,387,763 (GRCm39) R746G probably damaging Het
Ndufaf7 T C 17: 79,249,516 (GRCm39) S138P probably benign Het
Osmr T C 15: 6,845,201 (GRCm39) Q855R possibly damaging Het
Pip4k2a C T 2: 18,877,103 (GRCm39) D211N probably damaging Het
Pitpnm1 A G 19: 4,153,085 (GRCm39) Q135R probably benign Het
Plxna1 G T 6: 89,300,310 (GRCm39) T1591K probably damaging Het
Rdh19 T A 10: 127,686,020 (GRCm39) L44Q probably benign Het
Smad3 C T 9: 63,562,070 (GRCm39) V108I possibly damaging Het
Sptb A C 12: 76,659,625 (GRCm39) S1092A probably benign Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmc5 T C 7: 118,269,956 (GRCm39) I902T probably benign Het
Ugt1a6a C T 1: 88,066,349 (GRCm39) R52* probably null Het
Usp54 C T 14: 20,611,090 (GRCm39) R1242H probably benign Het
Vps16 T C 2: 130,285,496 (GRCm39) V813A probably damaging Het
Other mutations in Rom1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Rom1 APN 19 8,905,368 (GRCm39) missense probably benign 0.30
IGL02118:Rom1 APN 19 8,906,386 (GRCm39) missense possibly damaging 0.92
R0800:Rom1 UTSW 19 8,906,272 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- TATGTCTTTCAGCCCACCAG -3'
(R):5'- TGATTGATGGCGTCCCCTTC -3'

Sequencing Primer
(F):5'- GTCTTTCAGCCCACCAGGAAAAAG -3'
(R):5'- GATGGCGTCCCCTTCTCCTG -3'
Posted On 2015-09-24