Incidental Mutation 'R0110:Brd8dc'
ID 20422
Institutional Source Beutler Lab
Gene Symbol Brd8dc
Ensembl Gene ENSMUSG00000049357
Gene Name BRD8 domain containing
Synonyms 4933408B17Rik
MMRRC Submission 038396-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R0110 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 18
Chromosomal Location 34712899-34730521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34729204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 42 (D42E)
Ref Sequence ENSEMBL: ENSMUSP00000054234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000056932] [ENSMUST00000097626] [ENSMUST00000115766] [ENSMUST00000129566]
AlphaFold G3X9B4
Predicted Effect probably benign
Transcript: ENSMUST00000003876
SMART Domains Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778

DomainStartEndE-ValueType
Blast:SANT 15 74 4e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 339 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 386 404 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
low complexity region 759 773 N/A INTRINSIC
BROMO 778 886 7.59e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000056932
AA Change: D42E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357
AA Change: D42E

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 47 65 N/A INTRINSIC
low complexity region 77 86 N/A INTRINSIC
BROMO 153 261 8.66e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097626
SMART Domains Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778

DomainStartEndE-ValueType
Blast:SANT 15 74 3e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
low complexity region 290 305 N/A INTRINSIC
low complexity region 313 331 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
low complexity region 686 700 N/A INTRINSIC
BROMO 705 813 7.59e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115766
SMART Domains Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778

DomainStartEndE-ValueType
Blast:SANT 15 74 4e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 337 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
BROMO 708 816 7.59e-40 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000129566
AA Change: D42E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117272
Gene: ENSMUSG00000049357
AA Change: D42E

DomainStartEndE-ValueType
Blast:BROMO 20 197 5e-25 BLAST
SCOP:d1f68a_ 161 204 1e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152612
Meta Mutation Damage Score 0.0882 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.0%
Validation Efficiency 98% (105/107)
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,320 (GRCm39) probably benign Het
Abcg3 A G 5: 105,125,482 (GRCm39) I67T probably damaging Het
Adam10 T A 9: 70,655,530 (GRCm39) W333R probably damaging Het
Ahnak C T 19: 8,995,596 (GRCm39) R5627* probably null Het
AI606181 A C 19: 41,582,170 (GRCm39) K113N unknown Het
Alms1 A T 6: 85,597,351 (GRCm39) R1195* probably null Het
Ankrd11 T C 8: 123,618,914 (GRCm39) D1646G possibly damaging Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Arpc1b T A 5: 145,064,525 (GRCm39) W361R probably damaging Het
Baiap2l1 T C 5: 144,212,701 (GRCm39) Y438C probably damaging Het
Ccdc110 T A 8: 46,388,194 (GRCm39) N50K probably benign Het
Ccdc168 C A 1: 44,098,384 (GRCm39) V905F probably benign Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Celsr3 G A 9: 108,704,204 (GRCm39) C229Y possibly damaging Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Cntln C T 4: 85,014,994 (GRCm39) T1095I probably damaging Het
Cog2 T C 8: 125,255,797 (GRCm39) probably null Het
Col11a1 A T 3: 113,899,105 (GRCm39) probably benign Het
Cpe T A 8: 65,064,501 (GRCm39) I233F probably damaging Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Defa34 A G 8: 22,155,988 (GRCm39) probably null Het
Dnah12 A G 14: 26,520,856 (GRCm39) R1892G probably damaging Het
Dock4 A G 12: 40,671,311 (GRCm39) probably benign Het
Dync1h1 C A 12: 110,606,378 (GRCm39) Q2483K probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Epyc A G 10: 97,485,625 (GRCm39) T22A probably benign Het
Fam227b T A 2: 125,942,841 (GRCm39) S319C probably damaging Het
Fam83a C A 15: 57,873,322 (GRCm39) Q384K probably benign Het
Fam83b G T 9: 76,400,108 (GRCm39) L332I possibly damaging Het
Gal3st2c C T 1: 93,937,219 (GRCm39) P388L probably benign Het
Ggn C T 7: 28,870,721 (GRCm39) P47S probably damaging Het
Gli3 T G 13: 15,899,370 (GRCm39) L919R probably damaging Het
Gm5134 C A 10: 75,810,079 (GRCm39) T120N probably benign Het
Gmip C T 8: 70,268,259 (GRCm39) probably benign Het
Gpr39 C T 1: 125,605,237 (GRCm39) T55M probably damaging Het
Grk4 A G 5: 34,873,557 (GRCm39) T208A probably damaging Het
Gsdme C A 6: 50,223,107 (GRCm39) probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
Hadhb T C 5: 30,374,483 (GRCm39) probably benign Het
Hectd4 T A 5: 121,419,959 (GRCm39) Y635N possibly damaging Het
Hectd4 G A 5: 121,443,736 (GRCm39) E1319K possibly damaging Het
Ikbkb A T 8: 23,161,651 (GRCm39) C412* probably null Het
Itpa A T 2: 130,521,338 (GRCm39) probably benign Het
Klhl10 A G 11: 100,347,758 (GRCm39) T605A probably benign Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lap3 T C 5: 45,652,632 (GRCm39) probably benign Het
Lrrc10 T A 10: 116,881,695 (GRCm39) L123Q probably damaging Het
Map3k6 T C 4: 132,971,105 (GRCm39) L273P probably damaging Het
Mbl1 A G 14: 40,880,706 (GRCm39) N198S probably damaging Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Mdga2 T C 12: 66,517,700 (GRCm39) K45E possibly damaging Het
Mdn1 A G 4: 32,738,619 (GRCm39) N3524S probably benign Het
Mrc1 T A 2: 14,243,353 (GRCm39) probably benign Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Mtcl1 C T 17: 66,665,109 (GRCm39) E1149K possibly damaging Het
Naca C T 10: 127,880,659 (GRCm39) A1897V probably benign Het
Ncapg T C 5: 45,850,489 (GRCm39) probably benign Het
Neb A T 2: 52,180,755 (GRCm39) probably benign Het
Or5p5 T C 7: 107,413,895 (GRCm39) Y35H probably damaging Het
Or8b12i T C 9: 20,082,561 (GRCm39) Y102C probably benign Het
Or8g27 G A 9: 39,129,024 (GRCm39) V124I possibly damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Parp3 A G 9: 106,348,995 (GRCm39) F466L possibly damaging Het
Pcdh15 A T 10: 74,126,808 (GRCm39) N296Y probably damaging Het
Pcf11 G A 7: 92,307,039 (GRCm39) P1043L probably damaging Het
Pdzrn3 A T 6: 101,128,014 (GRCm39) I884N probably damaging Het
Phf24 G T 4: 42,933,761 (GRCm39) V48L possibly damaging Het
Pla2g4a T A 1: 149,716,398 (GRCm39) M688L possibly damaging Het
Plcl2 T C 17: 50,915,010 (GRCm39) L673P probably damaging Het
Ppp1r3c A T 19: 36,711,617 (GRCm39) F51Y possibly damaging Het
Prmt1 A G 7: 44,628,225 (GRCm39) probably benign Het
Proc G A 18: 32,258,171 (GRCm39) T258I probably benign Het
Prom2 T G 2: 127,373,033 (GRCm39) S679R possibly damaging Het
Psen2 T C 1: 180,066,479 (GRCm39) T153A probably damaging Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Rin2 A G 2: 145,702,953 (GRCm39) K550E probably benign Het
Rtn4 T A 11: 29,683,849 (GRCm39) probably benign Het
Semp2l1 T A 1: 32,584,956 (GRCm39) N318I possibly damaging Het
Ssh1 A T 5: 114,084,766 (GRCm39) D448E probably benign Het
Ssmem1 A T 6: 30,519,547 (GRCm39) probably null Het
Stam2 A T 2: 52,609,998 (GRCm39) probably benign Het
Syne1 A G 10: 5,317,600 (GRCm39) L498P probably damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Taf6l G T 19: 8,755,885 (GRCm39) H254Q probably benign Het
Tas2r123 T C 6: 132,824,295 (GRCm39) V64A probably benign Het
Tnnc1 A G 14: 30,933,365 (GRCm39) D149G probably damaging Het
Tpp2 A G 1: 44,038,853 (GRCm39) D1133G probably damaging Het
Tpp2 T A 1: 44,017,664 (GRCm39) V756E probably benign Het
Traf3ip3 T A 1: 192,860,539 (GRCm39) probably null Het
Tsen15 A G 1: 152,247,548 (GRCm39) V148A probably damaging Het
Ttn T A 2: 76,694,672 (GRCm39) probably benign Het
Ube2u A G 4: 100,343,870 (GRCm39) I90V probably benign Het
Unc79 T A 12: 103,045,329 (GRCm39) probably null Het
Usp47 T C 7: 111,655,787 (GRCm39) S155P possibly damaging Het
Wdr41 T C 13: 95,154,619 (GRCm39) probably benign Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp423 A G 8: 88,508,887 (GRCm39) S486P possibly damaging Het
Zfp628 A T 7: 4,922,732 (GRCm39) Q318L probably benign Het
Other mutations in Brd8dc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Brd8dc APN 18 34,726,068 (GRCm39) missense probably benign 0.01
R0510:Brd8dc UTSW 18 34,729,204 (GRCm39) missense probably damaging 0.96
R0633:Brd8dc UTSW 18 34,719,319 (GRCm39) missense possibly damaging 0.56
R1138:Brd8dc UTSW 18 34,713,297 (GRCm39) missense probably benign 0.09
R4768:Brd8dc UTSW 18 34,714,005 (GRCm39) missense probably damaging 1.00
R6670:Brd8dc UTSW 18 34,719,319 (GRCm39) missense possibly damaging 0.56
R6727:Brd8dc UTSW 18 34,713,894 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TCACCATTACCTCAGAGAGCAGTTCC -3'
(R):5'- ACAGTCAGATATGACCAGAAGGATGCC -3'

Sequencing Primer
(F):5'- AAGCTCGCTACATCCTCTCT -3'
(R):5'- CTGGACCTTTCCTATGAACTTGAAG -3'
Posted On 2013-04-11