Incidental Mutation 'IGL02008:Rom1'
ID 183268
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 # IGL02008
Quality Score
Status
Chromosome 19
Chromosomal Location 8904755-8906720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8905368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 271 (I271F)
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 probably benign
Transcript: ENSMUST00000096242
AA Change: I271F

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093961
Gene: ENSMUSG00000071648
AA Change: I271F

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,969,750 (GRCm39) T2252A probably benign Het
Abcc2 C T 19: 43,810,189 (GRCm39) probably benign Het
Abcf1 T C 17: 36,272,954 (GRCm39) E231G probably benign Het
Astn2 T C 4: 65,977,390 (GRCm39) Y379C probably damaging Het
Atp8b1 G T 18: 64,671,766 (GRCm39) probably benign Het
Atr T A 9: 95,763,473 (GRCm39) probably benign Het
Bdp1 A G 13: 100,160,335 (GRCm39) S2349P possibly damaging Het
Bmp2 T C 2: 133,402,886 (GRCm39) S146P probably damaging Het
Cacna1c T C 6: 118,692,885 (GRCm39) S218G probably null Het
Cand2 T C 6: 115,780,599 (GRCm39) V1161A probably damaging Het
Clec16a T C 16: 10,398,824 (GRCm39) V330A probably damaging Het
Cpsf1 A T 15: 76,487,291 (GRCm39) V161D probably damaging Het
Ctsh A G 9: 89,943,600 (GRCm39) Y75C probably damaging Het
Cyp26c1 C A 19: 37,677,371 (GRCm39) L267M probably damaging Het
Cyp26c1 T A 19: 37,677,372 (GRCm39) L267Q probably damaging Het
Cyp2c50 G A 19: 40,079,543 (GRCm39) W212* probably null Het
Dnah5 T A 15: 28,343,698 (GRCm39) M2366K probably damaging Het
Ermp1 A G 19: 29,590,320 (GRCm39) M794T probably damaging Het
F11 G T 8: 45,703,132 (GRCm39) S186Y probably damaging Het
Fam184b A T 5: 45,690,165 (GRCm39) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,706,084 (GRCm39) T114I possibly damaging Het
Gbp7 A C 3: 142,252,211 (GRCm39) D598A probably benign Het
Gm1110 T A 9: 26,794,526 (GRCm39) D500V probably benign Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,081,028 (GRCm39) R218* probably null Het
Ikbip G A 10: 90,929,119 (GRCm39) probably null Het
Kcnb2 C T 1: 15,781,033 (GRCm39) T635M probably benign Het
Krtap29-1 T A 11: 99,869,105 (GRCm39) I259F possibly damaging Het
Lnpep T C 17: 17,791,219 (GRCm39) T442A probably benign Het
Mgat1 T A 11: 49,151,562 (GRCm39) I15N probably damaging Het
Nlrp9c A T 7: 26,084,576 (GRCm39) S334R probably benign Het
Notch2 A T 3: 98,054,612 (GRCm39) D2425V probably damaging Het
Ntn1 C T 11: 68,104,089 (GRCm39) V520M probably damaging Het
Or10d1b A G 9: 39,613,549 (GRCm39) V172A probably damaging Het
Or4p18 T A 2: 88,232,421 (GRCm39) T286S possibly damaging Het
Or5d39 A T 2: 87,979,922 (GRCm39) V147E probably damaging Het
Or6c3b T A 10: 129,527,887 (GRCm39) T8S probably benign Het
Or8g55 A T 9: 39,784,781 (GRCm39) D70V probably damaging Het
Or8k39 A C 2: 86,563,521 (GRCm39) I145R possibly damaging Het
Osr2 A G 15: 35,302,138 (GRCm39) H246R probably damaging Het
Papolg T C 11: 23,829,898 (GRCm39) R224G probably damaging Het
Pax6 T A 2: 105,522,623 (GRCm39) probably null Het
Pcyox1 A G 6: 86,369,250 (GRCm39) V192A probably benign Het
Phf1 C T 17: 27,154,260 (GRCm39) A159V possibly damaging Het
Ppfia4 G A 1: 134,260,129 (GRCm39) R45W probably damaging Het
Psmb9 T A 17: 34,402,653 (GRCm39) K109M probably damaging Het
Ptprt T A 2: 161,769,593 (GRCm39) Y424F probably benign Het
Ptrh2 A G 11: 86,580,592 (GRCm39) I70V probably benign Het
Rnf213 G A 11: 119,309,135 (GRCm39) probably benign Het
Satb2 T A 1: 56,835,952 (GRCm39) D731V possibly damaging Het
Serpinb7 G T 1: 107,375,859 (GRCm39) G159V possibly damaging Het
Slit1 T C 19: 41,634,579 (GRCm39) I393V probably damaging Het
Spata20 T A 11: 94,374,289 (GRCm39) D327V probably damaging Het
Spata31e3 G A 13: 50,400,721 (GRCm39) P535L probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Tbc1d32 G T 10: 56,027,871 (GRCm39) Q744K possibly damaging Het
Tmem108 G T 9: 103,366,439 (GRCm39) N517K possibly damaging Het
Trp63 T A 16: 25,681,211 (GRCm39) N160K probably damaging Het
Ttll5 T C 12: 85,980,385 (GRCm39) S119P probably damaging Het
Ubqln3 T A 7: 103,791,523 (GRCm39) Q189L probably damaging Het
Vwa5a G A 9: 38,649,072 (GRCm39) R638H probably benign Het
Wdr3 A G 3: 100,058,298 (GRCm39) S436P probably damaging Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfp976 A T 7: 42,263,656 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,657,303 (GRCm39) M860V probably damaging Het
Zscan4d T C 7: 10,896,296 (GRCm39) E358G probably benign Het
Other mutations in Rom1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07