Incidental Mutation 'R7618:Brme1'
ID 589004
Institutional Source Beutler Lab
Gene Symbol Brme1
Ensembl Gene ENSMUSG00000008129
Gene Name break repair meiotic recombinase recruitment factor 1
Synonyms 4930432K21Rik, Mamerr, Meiok21
MMRRC Submission 045685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7618 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84874654-84899219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84893499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 222 (Q222R)
Ref Sequence ENSEMBL: ENSMUSP00000113651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093375] [ENSMUST00000118856] [ENSMUST00000143833]
AlphaFold Q6DIA7
Predicted Effect possibly damaging
Transcript: ENSMUST00000093375
AA Change: Q187R

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: Q187R

DomainStartEndE-ValueType
low complexity region 226 241 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118856
AA Change: Q222R

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: Q222R

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,736,300 (GRCm39) D1830G Het
Alms1 A G 6: 85,655,399 (GRCm39) N2846S probably benign Het
Amt A C 9: 108,177,077 (GRCm39) E228D probably damaging Het
Ankar T C 1: 72,714,925 (GRCm39) M618V probably benign Het
Ankrd60 T C 2: 173,412,834 (GRCm39) probably null Het
Aoc1 A G 6: 48,883,320 (GRCm39) T399A possibly damaging Het
Aqp11 T A 7: 97,386,873 (GRCm39) I108F probably benign Het
Arfgef3 G T 10: 18,522,029 (GRCm39) Q666K probably damaging Het
Bin2 T A 15: 100,542,894 (GRCm39) R430W probably damaging Het
Cdh18 T A 15: 23,367,056 (GRCm39) V254D probably damaging Het
Cfap46 A T 7: 139,183,155 (GRCm39) S159R Het
Clnk A T 5: 38,893,698 (GRCm39) S220T probably benign Het
Col19a1 G T 1: 24,361,165 (GRCm39) H608Q probably benign Het
Cplx1 C T 5: 108,673,395 (GRCm39) E24K possibly damaging Het
Dnah3 A T 7: 119,577,601 (GRCm39) L2031Q probably damaging Het
Dok1 T C 6: 83,009,872 (GRCm39) E79G probably benign Het
Eif4g3 T C 4: 137,898,429 (GRCm39) S902P probably damaging Het
Emilin3 T A 2: 160,751,199 (GRCm39) E183D probably benign Het
Fam124b G A 1: 80,191,554 (GRCm39) probably benign Het
Gm9195 T C 14: 72,690,275 (GRCm39) Y1816C probably damaging Het
Ighv5-9-1 T A 12: 113,699,819 (GRCm39) I98F probably damaging Het
Il31ra G A 13: 112,688,514 (GRCm39) P21L possibly damaging Het
Kat6a A G 8: 23,352,578 (GRCm39) I121V possibly damaging Het
Kif11 T C 19: 37,400,008 (GRCm39) W832R probably benign Het
Klhl9 T C 4: 88,638,772 (GRCm39) T490A possibly damaging Het
Lars1 G T 18: 42,377,956 (GRCm39) A153E probably benign Het
Muc5b A T 7: 141,421,334 (GRCm39) I4275L probably benign Het
Myo10 T A 15: 25,726,561 (GRCm39) C294* probably null Het
Nceh1 T A 3: 27,237,366 (GRCm39) probably null Het
Ncf1 T A 5: 134,256,121 (GRCm39) T93S probably benign Het
Nfatc2 G A 2: 168,376,919 (GRCm39) R545C probably damaging Het
Nos1 C T 5: 118,042,009 (GRCm39) P545S probably benign Het
Ogfod3 C A 11: 121,093,804 (GRCm39) V69F probably damaging Het
Or4a27 A T 2: 88,559,180 (GRCm39) Y254* probably null Het
Phf12 A G 11: 77,916,960 (GRCm39) N272S unknown Het
Prkcz T A 4: 155,346,939 (GRCm39) I581F probably damaging Het
Rasgrf2 T C 13: 92,136,085 (GRCm39) H8R Het
Rb1cc1 T A 1: 6,335,782 (GRCm39) probably null Het
Rcor2 T A 19: 7,248,411 (GRCm39) M186K possibly damaging Het
Rnf111 C A 9: 70,410,614 (GRCm39) probably benign Het
Sanbr A C 11: 23,534,550 (GRCm39) C602W possibly damaging Het
Serinc3 A T 2: 163,472,889 (GRCm39) F247Y possibly damaging Het
Serpina1c T A 12: 103,865,029 (GRCm39) I206F probably damaging Het
Slc25a10 G A 11: 120,387,797 (GRCm39) probably null Het
Syne2 T G 12: 75,992,108 (GRCm39) H1993Q probably benign Het
Tap1 A G 17: 34,407,212 (GRCm39) Y120C possibly damaging Het
Tex30 A T 1: 44,127,410 (GRCm39) probably null Het
Ube2ql1 G T 13: 69,887,066 (GRCm39) Q132K probably benign Het
Unc13d T C 11: 115,957,547 (GRCm39) N803D probably damaging Het
Vcan G A 13: 89,840,342 (GRCm39) S1734F probably damaging Het
Wdfy4 T C 14: 32,707,696 (GRCm39) Y2630C Het
Wdr93 A G 7: 79,435,474 (GRCm39) T668A probably benign Het
Other mutations in Brme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Brme1 APN 8 84,893,400 (GRCm39) missense probably damaging 0.99
IGL00964:Brme1 APN 8 84,893,343 (GRCm39) missense probably benign 0.07
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
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
Predicted Primers PCR Primer
(F):5'- ACAGCCAGATGGAACCCTTTC -3'
(R):5'- CACAGAGGGATCTAAGCTCAC -3'

Sequencing Primer
(F):5'- GCCAGATGGAACCCTTTCAAAGG -3'
(R):5'- CAGAGGGATCTAAGCTCACTTCTG -3'
Posted On 2019-10-24