Incidental Mutation 'IGL01090:Rmi1'
ID 52556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmi1
Ensembl Gene ENSMUSG00000035367
Gene Name RecQ mediated genome instability 1
Synonyms 4932432N11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # IGL01090
Quality Score
Status
Chromosome 13
Chromosomal Location 58550062-58558962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58557208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 486 (S486P)
Ref Sequence ENSEMBL: ENSMUSP00000153675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042450] [ENSMUST00000224479] [ENSMUST00000225815] [ENSMUST00000225828]
AlphaFold Q9D4G9
Predicted Effect probably damaging
Transcript: ENSMUST00000042450
AA Change: S486P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041035
Gene: ENSMUSG00000035367
AA Change: S486P

DomainStartEndE-ValueType
DUF1767 11 104 1.62e-34 SMART
low complexity region 243 259 N/A INTRINSIC
low complexity region 271 285 N/A INTRINSIC
Pfam:RMI1_C 479 614 4.2e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224479
AA Change: S486P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224758
Predicted Effect probably damaging
Transcript: ENSMUST00000225815
AA Change: S486P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225828
AA Change: S486P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased weight and increased resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,896,099 (GRCm39) S316P possibly damaging Het
Actn1 A T 12: 80,245,846 (GRCm39) probably null Het
Agbl3 T C 6: 34,776,822 (GRCm39) Y443H probably benign Het
Akap13 T A 7: 75,316,279 (GRCm39) D578E probably benign Het
Aldoa A T 7: 126,395,207 (GRCm39) H292Q probably benign Het
Als2 T C 1: 59,254,775 (GRCm39) K194R possibly damaging Het
Bivm C A 1: 44,168,451 (GRCm39) H244N probably damaging Het
Cabp5 G A 7: 13,139,412 (GRCm39) E146K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap251 A C 5: 123,418,052 (GRCm39) probably benign Het
Clcn4 A G 7: 7,297,035 (GRCm39) V129A probably benign Het
Clec4g A G 8: 3,769,482 (GRCm39) S54P probably damaging Het
Crim1 G T 17: 78,654,658 (GRCm39) V645L probably damaging Het
Csta1 T C 16: 35,945,421 (GRCm39) T31A probably damaging Het
D930048N14Rik T C 11: 51,544,610 (GRCm39) probably benign Het
Dhx34 G T 7: 15,950,181 (GRCm39) P329Q probably damaging Het
Dusp16 T C 6: 134,702,912 (GRCm39) N193S probably benign Het
Fbn1 A G 2: 125,236,696 (GRCm39) probably benign Het
Fbxo46 A G 7: 18,870,728 (GRCm39) Y449C probably damaging Het
Fmo4 C A 1: 162,637,354 (GRCm39) probably null Het
Foxi3 C A 6: 70,937,729 (GRCm39) N320K probably damaging Het
Gm9964 A G 11: 79,187,210 (GRCm39) L79P unknown Het
Gpr161 T C 1: 165,134,149 (GRCm39) I137T probably damaging Het
Herc1 C T 9: 66,376,457 (GRCm39) Q3426* probably null Het
Hps5 C T 7: 46,437,751 (GRCm39) R108H probably benign Het
Itch T A 2: 155,048,256 (GRCm39) V540E probably damaging Het
L3mbtl1 C A 2: 162,807,925 (GRCm39) P520H probably damaging Het
Mvp A G 7: 126,588,859 (GRCm39) V636A probably benign Het
Odf4 A G 11: 68,812,778 (GRCm39) probably benign Het
Or7g18 A G 9: 18,787,538 (GRCm39) K305R probably benign Het
Pld1 T C 3: 28,142,816 (GRCm39) S675P probably benign Het
Plod3 A G 5: 137,019,090 (GRCm39) D325G probably benign Het
Prss12 T C 3: 123,276,388 (GRCm39) V339A possibly damaging Het
Ptpn13 T A 5: 103,689,180 (GRCm39) L991Q probably null Het
Ptpn3 T A 4: 57,240,833 (GRCm39) I261F probably damaging Het
Rab3gap1 T C 1: 127,858,124 (GRCm39) probably benign Het
Rasa4 A G 5: 136,130,847 (GRCm39) R373G possibly damaging Het
Slc25a23 A G 17: 57,354,233 (GRCm39) I139T probably benign Het
Sspo T A 6: 48,467,059 (GRCm39) S4017T probably benign Het
Tcaf1 C A 6: 42,663,556 (GRCm39) C108F probably benign Het
Tnc T C 4: 63,918,317 (GRCm39) Q1198R probably damaging Het
Tnni3k G T 3: 154,645,320 (GRCm39) Q522K possibly damaging Het
Trio T A 15: 27,773,093 (GRCm39) E713V probably damaging Het
Ugt2b34 C A 5: 87,041,679 (GRCm39) V338F probably damaging Het
Usp40 T A 1: 87,890,187 (GRCm39) M892L probably benign Het
Usp54 A T 14: 20,636,225 (GRCm39) probably benign Het
Vmn2r53 T C 7: 12,334,835 (GRCm39) E275G possibly damaging Het
Vmn2r87 A G 10: 130,333,247 (GRCm39) M1T probably null Het
Wdr83os A T 8: 85,808,476 (GRCm39) D76V probably damaging Het
Other mutations in Rmi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02304:Rmi1 APN 13 58,557,290 (GRCm39) nonsense probably null
R2046:Rmi1 UTSW 13 58,555,772 (GRCm39) missense probably benign
R2144:Rmi1 UTSW 13 58,555,797 (GRCm39) missense probably damaging 0.99
R4624:Rmi1 UTSW 13 58,556,950 (GRCm39) missense probably benign 0.03
R4625:Rmi1 UTSW 13 58,556,950 (GRCm39) missense probably benign 0.03
R4626:Rmi1 UTSW 13 58,556,950 (GRCm39) missense probably benign 0.03
R4627:Rmi1 UTSW 13 58,556,950 (GRCm39) missense probably benign 0.03
R4628:Rmi1 UTSW 13 58,556,950 (GRCm39) missense probably benign 0.03
R4629:Rmi1 UTSW 13 58,556,950 (GRCm39) missense probably benign 0.03
R5288:Rmi1 UTSW 13 58,557,280 (GRCm39) missense probably damaging 1.00
R6939:Rmi1 UTSW 13 58,557,169 (GRCm39) missense probably benign
R7337:Rmi1 UTSW 13 58,557,393 (GRCm39) nonsense probably null
R7741:Rmi1 UTSW 13 58,557,067 (GRCm39) missense probably benign
R8871:Rmi1 UTSW 13 58,557,156 (GRCm39) missense probably benign 0.04
R9248:Rmi1 UTSW 13 58,556,899 (GRCm39) missense probably benign 0.04
R9268:Rmi1 UTSW 13 58,555,853 (GRCm39) missense probably damaging 0.99
R9269:Rmi1 UTSW 13 58,556,840 (GRCm39) missense probably benign 0.12
R9627:Rmi1 UTSW 13 58,557,366 (GRCm39) missense possibly damaging 0.88
Posted On 2013-06-21