Incidental Mutation 'IGL00964:Brme1'
ID 28057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brme1
Ensembl Gene ENSMUSG00000008129
Gene Name break repair meiotic recombinase recruitment factor 1
Synonyms 4930432K21Rik, Mamerr, Meiok21
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL00964
Quality Score
Status
Chromosome 8
Chromosomal Location 84874654-84899219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84893343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 170 (I170T)
Ref Sequence ENSEMBL: ENSMUSP00000113651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093375] [ENSMUST00000118856] [ENSMUST00000143833]
AlphaFold Q6DIA7
Predicted Effect probably benign
Transcript: ENSMUST00000093375
AA Change: I135T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: I135T

DomainStartEndE-ValueType
low complexity region 226 241 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118856
AA Change: I170T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: I170T

DomainStartEndE-ValueType
Pfam:DUF4671 1 193 2.1e-62 PFAM
Pfam:DUF4671 181 600 7.3e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143833
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,009,610 (GRCm39) *197C probably null Het
Acsl6 A G 11: 54,216,472 (GRCm39) Y213C probably damaging Het
Agt T C 8: 125,284,634 (GRCm39) probably benign Het
Aifm3 A G 16: 17,318,228 (GRCm39) D144G probably damaging Het
Alad T C 4: 62,432,330 (GRCm39) I32V probably benign Het
Astn2 T A 4: 66,103,424 (GRCm39) M330L unknown Het
AU040320 T A 4: 126,748,199 (GRCm39) C1029* probably null Het
Brca2 T A 5: 150,455,775 (GRCm39) I172N probably damaging Het
Cdk5rap3 A G 11: 96,800,765 (GRCm39) probably null Het
Dusp26 G T 8: 31,584,136 (GRCm39) R81L probably benign Het
Dync2h1 T C 9: 7,174,881 (GRCm39) probably benign Het
Ehd4 A G 2: 119,958,163 (GRCm39) C141R probably benign Het
Ftsj3 G T 11: 106,143,941 (GRCm39) A261D probably benign Het
Gm5431 G A 11: 48,780,094 (GRCm39) T554I probably damaging Het
Hyls1 A G 9: 35,473,408 (GRCm39) probably benign Het
Ifi213 T A 1: 173,421,518 (GRCm39) T124S possibly damaging Het
Ints10 T A 8: 69,264,638 (GRCm39) I457N probably damaging Het
Klk1b1 T G 7: 43,620,593 (GRCm39) S228A possibly damaging Het
Lpar2 T C 8: 70,279,162 (GRCm39) S319P probably benign Het
Lsr T C 7: 30,671,421 (GRCm39) N104S probably damaging Het
Mybpc1 T A 10: 88,391,604 (GRCm39) probably null Het
Nalcn T A 14: 123,532,796 (GRCm39) probably benign Het
Ovol2 G A 2: 144,147,599 (GRCm39) A217V probably damaging Het
Pcdh12 T A 18: 38,415,784 (GRCm39) Q447L probably benign Het
Pdgfra T C 5: 75,335,726 (GRCm39) I453T probably damaging Het
Ptprd C T 4: 75,916,793 (GRCm39) W1037* probably null Het
Rabgef1 T C 5: 130,219,863 (GRCm39) S109P probably damaging Het
Rev3l T C 10: 39,740,802 (GRCm39) I2995T probably benign Het
Slamf6 T A 1: 171,745,347 (GRCm39) C25S probably null Het
Slc28a2b A T 2: 122,347,527 (GRCm39) Q229H probably damaging Het
Sorbs2 A C 8: 46,248,714 (GRCm39) N520T probably damaging Het
Spr-ps1 C A 6: 85,132,016 (GRCm39) noncoding transcript Het
Stx4a A G 7: 127,441,898 (GRCm39) Q92R probably benign Het
Tab2 A C 10: 7,785,837 (GRCm39) V638G probably benign Het
Trim41 C A 11: 48,703,190 (GRCm39) R79S possibly damaging Het
Ttll5 A G 12: 85,896,057 (GRCm39) Y135C possibly damaging Het
Zan T C 5: 137,404,203 (GRCm39) probably benign Het
Zdhhc14 T A 17: 5,762,756 (GRCm39) L220Q probably damaging Het
Other mutations in Brme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Brme1 APN 8 84,893,400 (GRCm39) missense probably damaging 0.99
IGL01826:Brme1 APN 8 84,893,301 (GRCm39) missense probably benign 0.03
IGL02445:Brme1 APN 8 84,886,137 (GRCm39) missense probably benign 0.13
R0113:Brme1 UTSW 8 84,893,871 (GRCm39) missense probably damaging 1.00
R1479:Brme1 UTSW 8 84,889,026 (GRCm39) missense possibly damaging 0.59
R1590:Brme1 UTSW 8 84,893,715 (GRCm39) missense probably benign 0.28
R3011:Brme1 UTSW 8 84,893,539 (GRCm39) nonsense probably null
R4357:Brme1 UTSW 8 84,886,221 (GRCm39) missense probably benign 0.25
R5642:Brme1 UTSW 8 84,894,114 (GRCm39) missense probably damaging 0.99
R5664:Brme1 UTSW 8 84,893,288 (GRCm39) missense probably benign 0.25
R5722:Brme1 UTSW 8 84,898,473 (GRCm39) missense probably damaging 0.96
R7031:Brme1 UTSW 8 84,893,313 (GRCm39) missense possibly damaging 0.83
R7224:Brme1 UTSW 8 84,898,842 (GRCm39) missense probably benign
R7303:Brme1 UTSW 8 84,887,862 (GRCm39) missense probably benign 0.38
R7459:Brme1 UTSW 8 84,893,981 (GRCm39) missense probably benign 0.03
R7618:Brme1 UTSW 8 84,893,499 (GRCm39) missense possibly damaging 0.85
R8414:Brme1 UTSW 8 84,893,952 (GRCm39) missense probably damaging 0.98
R9252:Brme1 UTSW 8 84,898,878 (GRCm39) missense possibly damaging 0.92
RF040:Brme1 UTSW 8 84,894,204 (GRCm39) small insertion probably benign
Posted On 2013-04-17