Incidental Mutation 'R6776:Bmerb1'
ID 531322
Institutional Source Beutler Lab
Gene Symbol Bmerb1
Ensembl Gene ENSMUSG00000044117
Gene Name bMERB domain containing 1
Synonyms MINP, 2900011O08Rik
MMRRC Submission 044892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R6776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 13804468-13919364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13804670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 6 (S6T)
Ref Sequence ENSEMBL: ENSMUSP00000112435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056521] [ENSMUST00000117803] [ENSMUST00000118412] [ENSMUST00000131608] [ENSMUST00000178021]
AlphaFold Q8R1Y2
Predicted Effect probably benign
Transcript: ENSMUST00000056521
AA Change: S6T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062758
Gene: ENSMUSG00000044117
AA Change: S6T

DomainStartEndE-ValueType
DUF3585 10 149 5.68e-39 SMART
low complexity region 170 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117803
SMART Domains Protein: ENSMUSP00000113641
Gene: ENSMUSG00000065968

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Dispanin 46 128 5.6e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118412
AA Change: S6T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112435
Gene: ENSMUSG00000044117
AA Change: S6T

DomainStartEndE-ValueType
DUF3585 10 112 1.07e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131608
SMART Domains Protein: ENSMUSP00000122790
Gene: ENSMUSG00000044117

DomainStartEndE-ValueType
DUF3585 1 81 2.82e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178021
SMART Domains Protein: ENSMUSP00000136512
Gene: ENSMUSG00000065968

DomainStartEndE-ValueType
Pfam:Dispanin 18 100 7.2e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 A G 8: 10,038,075 (GRCm39) H224R probably benign Het
Anapc10 T C 8: 80,446,374 (GRCm39) F68S probably damaging Het
Arid2 A G 15: 96,268,830 (GRCm39) N981S probably benign Het
Cfap73 A G 5: 120,772,276 (GRCm39) F9L probably damaging Het
Chd3 A C 11: 69,245,296 (GRCm39) L1141V probably damaging Het
Daam1 C T 12: 72,036,582 (GRCm39) L1052F possibly damaging Het
Dmxl1 C T 18: 50,027,041 (GRCm39) R2050C probably damaging Het
Dpp10 G A 1: 123,295,385 (GRCm39) Q552* probably null Het
Dysf A G 6: 84,041,876 (GRCm39) D160G possibly damaging Het
Ecrg4 C A 1: 43,781,551 (GRCm39) N144K probably damaging Het
Firrm T C 1: 163,804,318 (GRCm39) I338M probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Ftcd T C 10: 76,425,073 (GRCm39) I518T probably benign Het
Gapdh A G 6: 125,139,236 (GRCm39) S248P probably damaging Het
Gm5592 C G 7: 40,939,153 (GRCm39) P812A probably damaging Het
Grik2 G A 10: 49,232,085 (GRCm39) L482F probably damaging Het
Gzmg C T 14: 56,394,288 (GRCm39) G202D probably damaging Het
Hectd4 G A 5: 121,491,574 (GRCm39) A3671T possibly damaging Het
Hexa G T 9: 59,465,355 (GRCm39) W203C probably damaging Het
Igdcc4 A T 9: 65,042,700 (GRCm39) T1217S probably benign Het
Ipo7 A G 7: 109,646,272 (GRCm39) D557G probably damaging Het
Irx3 T A 8: 92,526,463 (GRCm39) T414S probably benign Het
Jakmip1 G A 5: 37,344,498 (GRCm39) E1313K probably damaging Het
Kbtbd12 T C 6: 88,595,248 (GRCm39) D194G probably damaging Het
Klk6 T C 7: 43,476,298 (GRCm39) L46P probably damaging Het
Krt86 T C 15: 101,374,817 (GRCm39) I329T probably benign Het
Mroh5 A G 15: 73,661,817 (GRCm39) probably null Het
Mtrf1 T C 14: 79,650,521 (GRCm39) V323A probably damaging Het
Oas3 A T 5: 120,896,939 (GRCm39) I894N probably damaging Het
Oplah C T 15: 76,185,053 (GRCm39) V887I possibly damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pcnx1 C T 12: 82,009,496 (GRCm39) A1181V possibly damaging Het
Pkdrej G T 15: 85,701,510 (GRCm39) Y1475* probably null Het
Pla2g5 A G 4: 138,527,964 (GRCm39) S101P probably benign Het
Plekha4 C A 7: 45,184,241 (GRCm39) A76E probably damaging Het
Plk2 T C 13: 110,536,325 (GRCm39) I592T probably benign Het
Ppp2r3c T A 12: 55,345,252 (GRCm39) R79* probably null Het
Ppp2r3d A T 9: 101,090,061 (GRCm39) H87Q probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prrt4 G T 6: 29,176,551 (GRCm39) T258K possibly damaging Het
Rhpn2 T A 7: 35,083,194 (GRCm39) probably null Het
Slc11a1 T A 1: 74,423,244 (GRCm39) I365N probably damaging Het
Slc7a7 C T 14: 54,612,108 (GRCm39) G265D possibly damaging Het
Thsd7a T A 6: 12,555,636 (GRCm39) T83S possibly damaging Het
Tln2 A G 9: 67,170,187 (GRCm39) S1989P probably damaging Het
Tnfaip3 T G 10: 18,881,324 (GRCm39) T321P probably benign Het
Tnrc6b C T 15: 80,808,320 (GRCm39) P1623L possibly damaging Het
Trpa1 T C 1: 14,982,601 (GRCm39) N85S probably benign Het
Trrap C T 5: 144,788,066 (GRCm39) R3544* probably null Het
Ttf2 A T 3: 100,859,869 (GRCm39) V695E probably benign Het
Ttll4 A G 1: 74,720,512 (GRCm39) E509G probably damaging Het
Vdr T C 15: 97,767,709 (GRCm39) I94V probably damaging Het
Wdfy3 G T 5: 102,031,911 (GRCm39) Q2304K possibly damaging Het
Zfp663 T C 2: 165,200,935 (GRCm39) Y33C probably damaging Het
Other mutations in Bmerb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0071:Bmerb1 UTSW 16 13,906,818 (GRCm39) missense probably damaging 1.00
R0071:Bmerb1 UTSW 16 13,906,818 (GRCm39) missense probably damaging 1.00
R0483:Bmerb1 UTSW 16 13,913,803 (GRCm39) makesense probably null
R0518:Bmerb1 UTSW 16 13,804,676 (GRCm39) missense possibly damaging 0.94
R0521:Bmerb1 UTSW 16 13,804,676 (GRCm39) missense possibly damaging 0.94
R0834:Bmerb1 UTSW 16 13,911,795 (GRCm39) missense probably damaging 1.00
R4092:Bmerb1 UTSW 16 13,867,346 (GRCm39) missense probably damaging 1.00
R4622:Bmerb1 UTSW 16 13,911,786 (GRCm39) missense possibly damaging 0.91
R4922:Bmerb1 UTSW 16 13,804,683 (GRCm39) missense possibly damaging 0.68
R8056:Bmerb1 UTSW 16 13,856,180 (GRCm39) intron probably benign
R8353:Bmerb1 UTSW 16 13,855,877 (GRCm39) splice site probably null
R9101:Bmerb1 UTSW 16 13,867,259 (GRCm39) missense probably damaging 0.98
Z1176:Bmerb1 UTSW 16 13,867,345 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TACCAGTTGGGAGCTTTCAGG -3'
(R):5'- TTGTGCAACACTGGAAGCCC -3'

Sequencing Primer
(F):5'- CTTTCAGGTGCTGGAGATTGAAGAG -3'
(R):5'- GTCTGCCAGCCTGCGTTC -3'
Posted On 2018-08-29