Incidental Mutation 'IGL03090:Mbd6'
ID 418340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbd6
Ensembl Gene ENSMUSG00000025409
Gene Name methyl-CpG binding domain protein 6
Synonyms D10Wsu93e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03090
Quality Score
Status
Chromosome 10
Chromosomal Location 127117825-127124887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127123013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 49 (L49W)
Ref Sequence ENSEMBL: ENSMUSP00000114590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026475] [ENSMUST00000026476] [ENSMUST00000119078] [ENSMUST00000156208] [ENSMUST00000230446] [ENSMUST00000172567] [ENSMUST00000139091]
AlphaFold Q3TY92
Predicted Effect probably benign
Transcript: ENSMUST00000026475
SMART Domains Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
BRLZ 94 160 1.23e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000026476
AA Change: L49W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: L49W

DomainStartEndE-ValueType
Blast:MBD 26 79 8e-10 BLAST
low complexity region 80 94 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 212 229 N/A INTRINSIC
low complexity region 247 262 N/A INTRINSIC
low complexity region 269 295 N/A INTRINSIC
low complexity region 311 342 N/A INTRINSIC
low complexity region 347 378 N/A INTRINSIC
low complexity region 383 428 N/A INTRINSIC
low complexity region 442 455 N/A INTRINSIC
low complexity region 461 498 N/A INTRINSIC
low complexity region 500 517 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 566 634 N/A INTRINSIC
low complexity region 636 652 N/A INTRINSIC
low complexity region 653 674 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 733 799 N/A INTRINSIC
low complexity region 815 849 N/A INTRINSIC
low complexity region 853 890 N/A INTRINSIC
low complexity region 949 958 N/A INTRINSIC
low complexity region 978 1002 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119078
AA Change: L49W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: L49W

DomainStartEndE-ValueType
Blast:MBD 26 79 8e-10 BLAST
low complexity region 80 94 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 212 229 N/A INTRINSIC
low complexity region 247 262 N/A INTRINSIC
low complexity region 269 295 N/A INTRINSIC
low complexity region 311 342 N/A INTRINSIC
low complexity region 347 378 N/A INTRINSIC
low complexity region 383 428 N/A INTRINSIC
low complexity region 442 455 N/A INTRINSIC
low complexity region 461 498 N/A INTRINSIC
low complexity region 500 517 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 566 634 N/A INTRINSIC
low complexity region 636 652 N/A INTRINSIC
low complexity region 653 674 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 733 798 N/A INTRINSIC
low complexity region 813 847 N/A INTRINSIC
low complexity region 851 888 N/A INTRINSIC
low complexity region 947 956 N/A INTRINSIC
low complexity region 976 1000 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126243
SMART Domains Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
low complexity region 31 76 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 109 146 N/A INTRINSIC
low complexity region 148 165 N/A INTRINSIC
low complexity region 181 211 N/A INTRINSIC
low complexity region 214 282 N/A INTRINSIC
low complexity region 284 300 N/A INTRINSIC
low complexity region 301 322 N/A INTRINSIC
low complexity region 324 334 N/A INTRINSIC
low complexity region 381 446 N/A INTRINSIC
low complexity region 462 496 N/A INTRINSIC
low complexity region 500 537 N/A INTRINSIC
low complexity region 596 610 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134686
Predicted Effect probably benign
Transcript: ENSMUST00000136169
SMART Domains Protein: ENSMUSP00000122504
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
low complexity region 55 64 N/A INTRINSIC
low complexity region 84 108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000156208
AA Change: L49W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114590
Gene: ENSMUSG00000025409
AA Change: L49W

DomainStartEndE-ValueType
SCOP:d1qk9a_ 22 88 6e-5 SMART
Blast:MBD 26 79 6e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174167
Predicted Effect probably benign
Transcript: ENSMUST00000230446
Predicted Effect probably benign
Transcript: ENSMUST00000154851
SMART Domains Protein: ENSMUSP00000133835
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
low complexity region 2 61 N/A INTRINSIC
low complexity region 72 81 N/A INTRINSIC
low complexity region 101 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172567
SMART Domains Protein: ENSMUSP00000134527
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
low complexity region 1 66 N/A INTRINSIC
low complexity region 81 115 N/A INTRINSIC
low complexity region 119 156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139091
SMART Domains Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
BRLZ 94 160 1.23e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,247,965 (GRCm39) Y25C probably benign Het
Agap3 A C 5: 24,706,204 (GRCm39) T823P possibly damaging Het
Arap3 T C 18: 38,122,165 (GRCm39) E641G probably benign Het
Armc6 C T 8: 70,684,004 (GRCm39) R16Q probably benign Het
Asb15 T A 6: 24,567,185 (GRCm39) I502K possibly damaging Het
Atp8b3 T A 10: 80,366,438 (GRCm39) N275I probably damaging Het
Calr G A 8: 85,573,373 (GRCm39) P19S possibly damaging Het
Cdc6 T A 11: 98,810,122 (GRCm39) L477* probably null Het
Clba1 T C 12: 112,779,340 (GRCm39) probably null Het
Cnnm4 A G 1: 36,510,952 (GRCm39) D60G probably benign Het
Col12a1 G T 9: 79,585,652 (GRCm39) Q1242K probably damaging Het
Dusp18 T A 11: 3,847,466 (GRCm39) I152N probably damaging Het
Eef1akmt1 T C 14: 57,795,543 (GRCm39) T69A probably damaging Het
Efhb T C 17: 53,769,958 (GRCm39) Q117R probably benign Het
Fancd2 T A 6: 113,514,558 (GRCm39) probably null Het
Fat3 C T 9: 16,288,535 (GRCm39) W329* probably null Het
Frem3 A G 8: 81,344,858 (GRCm39) Y1727C probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gatb C A 3: 85,526,330 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,809 (GRCm39) S77T probably damaging Het
Gramd1c A T 16: 43,802,463 (GRCm39) D649E probably benign Het
Herc2 T A 7: 55,854,221 (GRCm39) L3745H probably damaging Het
Klk1b11 T A 7: 43,426,977 (GRCm39) M87K probably benign Het
Krt39 T G 11: 99,409,833 (GRCm39) probably benign Het
Lamc3 T A 2: 31,798,710 (GRCm39) probably benign Het
Lars2 T G 9: 123,285,025 (GRCm39) M786R probably damaging Het
Lmcd1 T A 6: 112,287,460 (GRCm39) S49T probably benign Het
Lrba T C 3: 86,680,448 (GRCm39) Y2689H probably benign Het
Map3k6 T C 4: 132,970,677 (GRCm39) V188A probably benign Het
Myo5a A T 9: 75,028,115 (GRCm39) Y100F probably damaging Het
Myo9a T A 9: 59,801,418 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,538,396 (GRCm39) D663G probably damaging Het
Nup214 A T 2: 31,908,254 (GRCm39) M1075L probably benign Het
Pkd1l3 C A 8: 110,382,165 (GRCm39) Y240* probably null Het
Pomk T A 8: 26,473,338 (GRCm39) N205I probably damaging Het
Sdr16c5 A G 4: 4,006,575 (GRCm39) probably benign Het
Setd1a A G 7: 127,385,672 (GRCm39) E250G possibly damaging Het
Slc26a6 A G 9: 108,737,890 (GRCm39) E541G probably benign Het
Slc4a3 A G 1: 75,531,661 (GRCm39) E876G probably benign Het
Srrm4 A G 5: 116,587,643 (GRCm39) probably benign Het
Stx12 A G 4: 132,590,540 (GRCm39) V119A probably benign Het
Tmem8b T A 4: 43,689,721 (GRCm39) S333T probably damaging Het
Usp31 T C 7: 121,278,753 (GRCm39) probably benign Het
Utp18 T C 11: 93,759,245 (GRCm39) R410G probably damaging Het
Vmn1r172 T C 7: 23,359,463 (GRCm39) I116T probably damaging Het
Vwa8 T A 14: 79,172,041 (GRCm39) L274Q possibly damaging Het
Wdfy3 A T 5: 102,014,142 (GRCm39) F2655I probably damaging Het
Zfp423 A T 8: 88,508,071 (GRCm39) Y737N probably damaging Het
Zyx C A 6: 42,334,276 (GRCm39) S500* probably null Het
Other mutations in Mbd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Mbd6 APN 10 127,119,988 (GRCm39) unclassified probably benign
IGL01685:Mbd6 APN 10 127,120,601 (GRCm39) unclassified probably benign
IGL02741:Mbd6 APN 10 127,123,263 (GRCm39) critical splice donor site probably null
IGL03395:Mbd6 APN 10 127,119,286 (GRCm39) missense probably damaging 1.00
R0041:Mbd6 UTSW 10 127,122,741 (GRCm39) missense probably damaging 1.00
R0480:Mbd6 UTSW 10 127,121,742 (GRCm39) unclassified probably benign
R0507:Mbd6 UTSW 10 127,119,389 (GRCm39) unclassified probably benign
R1686:Mbd6 UTSW 10 127,123,286 (GRCm39) missense probably damaging 0.99
R3418:Mbd6 UTSW 10 127,122,372 (GRCm39) missense probably null 0.83
R3419:Mbd6 UTSW 10 127,122,372 (GRCm39) missense probably null 0.83
R3724:Mbd6 UTSW 10 127,119,760 (GRCm39) unclassified probably benign
R3731:Mbd6 UTSW 10 127,121,637 (GRCm39) unclassified probably benign
R3742:Mbd6 UTSW 10 127,120,812 (GRCm39) unclassified probably benign
R3800:Mbd6 UTSW 10 127,121,036 (GRCm39) unclassified probably benign
R5023:Mbd6 UTSW 10 127,122,310 (GRCm39) missense probably benign 0.16
R5024:Mbd6 UTSW 10 127,122,310 (GRCm39) missense probably benign 0.16
R5053:Mbd6 UTSW 10 127,122,310 (GRCm39) missense probably benign 0.16
R5056:Mbd6 UTSW 10 127,122,310 (GRCm39) missense probably benign 0.16
R5568:Mbd6 UTSW 10 127,119,297 (GRCm39) missense possibly damaging 0.82
R5656:Mbd6 UTSW 10 127,121,155 (GRCm39) unclassified probably benign
R7607:Mbd6 UTSW 10 127,121,099 (GRCm39) missense unknown
R9366:Mbd6 UTSW 10 127,122,304 (GRCm39) nonsense probably null
Posted On 2016-08-02