Incidental Mutation 'R6247:Chd6'
ID 505665
Institutional Source Beutler Lab
Gene Symbol Chd6
Ensembl Gene ENSMUSG00000057133
Gene Name chromodomain helicase DNA binding protein 6
Synonyms 6330406J24Rik, 5430439G14Rik
MMRRC Submission 044366-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R6247 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 160946978-161109075 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160950048 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 2463 (M2463T)
Ref Sequence ENSEMBL: ENSMUSP00000042291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039782]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039782
AA Change: M2463T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: M2463T

DomainStartEndE-ValueType
low complexity region 86 106 N/A INTRINSIC
low complexity region 113 143 N/A INTRINSIC
low complexity region 214 229 N/A INTRINSIC
CHROMO 289 355 1.35e-4 SMART
CHROMO 372 430 3.48e-7 SMART
DEXDc 456 658 1.73e-39 SMART
HELICc 812 896 3.84e-23 SMART
low complexity region 1080 1094 N/A INTRINSIC
Blast:DEXDc 1108 1153 4e-23 BLAST
SANT 1445 1504 1.51e0 SMART
low complexity region 1866 1875 N/A INTRINSIC
low complexity region 2048 2057 N/A INTRINSIC
low complexity region 2130 2140 N/A INTRINSIC
low complexity region 2277 2290 N/A INTRINSIC
low complexity region 2333 2349 N/A INTRINSIC
low complexity region 2437 2446 N/A INTRINSIC
low complexity region 2539 2563 N/A INTRINSIC
low complexity region 2652 2659 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the chromodomain/helicase/DNA-binding domain family of chromatin remodeling enzymes. This protein has been found to be specifically involved in transcription initiation and elongation. Homozygous knockout mice exhibit impaired motor coordination. A pseudogene has been identified on chromosome 8. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,158,942 (GRCm38) D871G probably benign Het
A4galt G T 15: 83,227,819 (GRCm38) H254Q probably damaging Het
AA986860 C A 1: 130,743,043 (GRCm38) T334K possibly damaging Het
Abca13 T C 11: 9,403,874 (GRCm38) I3732T probably benign Het
Abcf1 C T 17: 35,961,064 (GRCm38) D353N probably damaging Het
Adssl1 A G 12: 112,628,356 (GRCm38) H83R probably damaging Het
Amer2 C A 14: 60,378,872 (GRCm38) A172E probably damaging Het
Ankhd1 A G 18: 36,654,146 (GRCm38) T2300A probably benign Het
Ano5 G A 7: 51,566,131 (GRCm38) probably null Het
Apob G A 12: 8,001,801 (GRCm38) G1109D probably damaging Het
Arhgef26 A T 3: 62,380,960 (GRCm38) N484Y probably damaging Het
C6 A G 15: 4,763,541 (GRCm38) D376G probably damaging Het
Caml T C 13: 55,625,173 (GRCm38) probably null Het
Capn12 T C 7: 28,888,652 (GRCm38) L473S probably benign Het
Cdk6 G A 5: 3,344,553 (GRCm38) probably null Het
Cers5 A T 15: 99,745,924 (GRCm38) C153S probably benign Het
Cfap206 T C 4: 34,692,530 (GRCm38) M499V probably benign Het
Chn1 T C 2: 73,707,006 (GRCm38) E58G possibly damaging Het
Clec4a1 T C 6: 122,928,042 (GRCm38) V100A probably benign Het
Col7a1 G C 9: 108,981,062 (GRCm38) probably benign Het
Csmd1 A G 8: 16,196,235 (GRCm38) V1050A possibly damaging Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dennd5a A T 7: 109,898,682 (GRCm38) C1044S probably damaging Het
Dnah7b A G 1: 46,225,888 (GRCm38) T2181A probably benign Het
Dnaic1 T C 4: 41,605,775 (GRCm38) V255A probably benign Het
Dync2h1 A G 9: 7,135,078 (GRCm38) C1518R probably damaging Het
Dysf T C 6: 84,066,999 (GRCm38) V273A probably damaging Het
Eif1 C T 11: 100,320,397 (GRCm38) probably benign Het
Eml3 T C 19: 8,930,949 (GRCm38) I58T probably benign Het
Fam171b T A 2: 83,879,208 (GRCm38) I408N probably damaging Het
Fchsd2 A G 7: 101,253,540 (GRCm38) E351G probably benign Het
Focad G A 4: 88,407,140 (GRCm38) A81T possibly damaging Het
Fpr-rs4 G A 17: 18,022,486 (GRCm38) V252I probably benign Het
Fryl A G 5: 73,065,481 (GRCm38) L1919P probably damaging Het
Gm12185 C T 11: 48,915,908 (GRCm38) R152H probably damaging Het
Gm14410 C T 2: 177,193,724 (GRCm38) G249E probably damaging Het
Gm3854 T C 7: 6,353,946 (GRCm38) C253R probably damaging Het
Gm6685 A T 11: 28,339,706 (GRCm38) S37T possibly damaging Het
Greb1 G A 12: 16,716,675 (GRCm38) P374L probably damaging Het
Hdac4 A T 1: 92,012,838 (GRCm38) probably null Het
Hecw1 A T 13: 14,234,425 (GRCm38) L1099* probably null Het
Hivep1 T C 13: 42,157,490 (GRCm38) S1069P probably benign Het
Itgad T C 7: 128,185,787 (GRCm38) I288T possibly damaging Het
Kif9 A G 9: 110,488,544 (GRCm38) M96V possibly damaging Het
Kncn T A 4: 115,884,790 (GRCm38) V18E probably damaging Het
Lrrc74a G A 12: 86,758,556 (GRCm38) G384D probably damaging Het
Ltb4r2 T C 14: 55,762,651 (GRCm38) V243A probably damaging Het
Mtnr1b T A 9: 15,862,786 (GRCm38) I326L probably benign Het
Mylip C T 13: 45,408,481 (GRCm38) T253I probably damaging Het
Necap1 T A 6: 122,880,652 (GRCm38) probably null Het
Nedd4 C T 9: 72,726,438 (GRCm38) P409S probably damaging Het
Npat A T 9: 53,545,238 (GRCm38) E36D probably damaging Het
Ovch2 C T 7: 107,785,441 (GRCm38) V490M probably damaging Het
Pax9 T C 12: 56,709,695 (GRCm38) S273P probably benign Het
Plce1 A G 19: 38,745,845 (GRCm38) E1563G probably damaging Het
Podxl2 C A 6: 88,849,317 (GRCm38) G336* probably null Het
Prdm1 A G 10: 44,446,786 (GRCm38) probably null Het
Psme4 T C 11: 30,853,245 (GRCm38) I29T possibly damaging Het
Ptprd A T 4: 76,066,291 (GRCm38) D780E probably benign Het
Retsat T C 6: 72,604,935 (GRCm38) M294T probably benign Het
Robo2 A T 16: 73,967,784 (GRCm38) V652D probably damaging Het
Rptn C G 3: 93,398,130 (GRCm38) H923Q possibly damaging Het
Serpinb3d G T 1: 107,082,760 (GRCm38) T66K probably benign Het
Setd1b A T 5: 123,158,398 (GRCm38) probably benign Het
Slc7a10 G T 7: 35,186,587 (GRCm38) A36S possibly damaging Het
Sstr3 T A 15: 78,539,588 (GRCm38) I320F probably damaging Het
Syne1 G T 10: 5,349,071 (GRCm38) A1005E probably damaging Het
Syngap1 C A 17: 26,962,957 (GRCm38) S975* probably null Het
Tinagl1 C T 4: 130,172,932 (GRCm38) C124Y probably null Het
Tm9sf1 C T 14: 55,636,370 (GRCm38) R557H probably damaging Het
Tmed2 T A 5: 124,546,992 (GRCm38) I68K possibly damaging Het
Tmem104 A G 11: 115,243,993 (GRCm38) T451A probably benign Het
Tmem141 T C 2: 25,621,681 (GRCm38) probably null Het
Tmem184a C A 5: 139,813,072 (GRCm38) V41L probably benign Het
Tmem39b C T 4: 129,686,791 (GRCm38) V303I possibly damaging Het
Tsn T C 1: 118,305,209 (GRCm38) I122V probably benign Het
Ttc41 G T 10: 86,776,663 (GRCm38) V1267L probably benign Het
Uggt1 A T 1: 36,163,228 (GRCm38) L1096Q probably damaging Het
Usp50 A T 2: 126,775,793 (GRCm38) I244N probably benign Het
Vil1 A G 1: 74,432,339 (GRCm38) S760G probably benign Het
Wasf1 T A 10: 40,937,745 (GRCm38) V541E unknown Het
Zc3h13 G T 14: 75,343,736 (GRCm38) S1721I probably benign Het
Zfp180 G T 7: 24,105,105 (GRCm38) K316N probably damaging Het
Zfp709 TCGACG TCG 8: 71,890,708 (GRCm38) probably benign Het
Zfp759 A G 13: 67,140,460 (GRCm38) T692A probably benign Het
Zfyve26 A G 12: 79,282,984 (GRCm38) V476A probably benign Het
Other mutations in Chd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Chd6 APN 2 161,042,079 (GRCm38) missense probably benign 0.01
IGL00899:Chd6 APN 2 161,029,298 (GRCm38) splice site probably benign
IGL01104:Chd6 APN 2 160,961,927 (GRCm38) missense probably damaging 1.00
IGL01295:Chd6 APN 2 160,988,370 (GRCm38) splice site probably benign
IGL01717:Chd6 APN 2 160,965,259 (GRCm38) missense possibly damaging 0.96
IGL01795:Chd6 APN 2 160,961,374 (GRCm38) missense probably benign 0.00
IGL01814:Chd6 APN 2 161,059,929 (GRCm38) missense probably benign 0.25
IGL02016:Chd6 APN 2 160,983,678 (GRCm38) missense probably damaging 1.00
IGL02104:Chd6 APN 2 160,977,512 (GRCm38) missense probably benign
IGL02158:Chd6 APN 2 161,026,292 (GRCm38) missense possibly damaging 0.73
IGL02313:Chd6 APN 2 160,965,675 (GRCm38) missense probably damaging 1.00
IGL02472:Chd6 APN 2 160,984,452 (GRCm38) splice site probably benign
IGL02522:Chd6 APN 2 160,965,796 (GRCm38) missense probably benign 0.30
IGL02626:Chd6 APN 2 161,039,350 (GRCm38) splice site probably benign
IGL02727:Chd6 APN 2 160,969,463 (GRCm38) missense probably damaging 0.96
IGL02738:Chd6 APN 2 160,965,698 (GRCm38) missense probably benign 0.45
IGL02743:Chd6 APN 2 160,960,263 (GRCm38) missense probably damaging 1.00
IGL02800:Chd6 APN 2 160,984,632 (GRCm38) missense probably damaging 1.00
IGL02811:Chd6 APN 2 160,990,301 (GRCm38) missense probably damaging 1.00
IGL02850:Chd6 APN 2 161,019,616 (GRCm38) nonsense probably null
IGL02979:Chd6 APN 2 160,966,170 (GRCm38) missense possibly damaging 0.48
IGL02993:Chd6 APN 2 161,052,384 (GRCm38) splice site probably benign
IGL03277:Chd6 APN 2 160,983,061 (GRCm38) missense probably null 1.00
IGL03346:Chd6 APN 2 160,960,362 (GRCm38) missense probably benign 0.00
IGL03357:Chd6 APN 2 161,018,016 (GRCm38) splice site probably benign
IGL03134:Chd6 UTSW 2 160,965,483 (GRCm38) missense possibly damaging 0.88
R0106:Chd6 UTSW 2 160,967,902 (GRCm38) missense probably damaging 1.00
R0106:Chd6 UTSW 2 160,967,902 (GRCm38) missense probably damaging 1.00
R0212:Chd6 UTSW 2 161,052,847 (GRCm38) missense probably damaging 0.99
R0363:Chd6 UTSW 2 161,014,324 (GRCm38) missense probably damaging 1.00
R0399:Chd6 UTSW 2 161,052,688 (GRCm38) missense probably damaging 1.00
R0511:Chd6 UTSW 2 160,992,191 (GRCm38) missense probably damaging 0.99
R0771:Chd6 UTSW 2 161,019,580 (GRCm38) missense probably damaging 1.00
R1147:Chd6 UTSW 2 160,990,271 (GRCm38) missense probably damaging 1.00
R1147:Chd6 UTSW 2 160,990,271 (GRCm38) missense probably damaging 1.00
R1184:Chd6 UTSW 2 161,030,802 (GRCm38) missense probably damaging 1.00
R1277:Chd6 UTSW 2 160,967,815 (GRCm38) missense probably damaging 1.00
R1396:Chd6 UTSW 2 160,983,103 (GRCm38) missense probably damaging 1.00
R1647:Chd6 UTSW 2 161,042,058 (GRCm38) missense probably damaging 1.00
R1648:Chd6 UTSW 2 161,042,058 (GRCm38) missense probably damaging 1.00
R1745:Chd6 UTSW 2 160,981,667 (GRCm38) missense probably damaging 0.96
R1766:Chd6 UTSW 2 160,966,639 (GRCm38) missense probably damaging 1.00
R1871:Chd6 UTSW 2 160,990,256 (GRCm38) missense probably damaging 1.00
R1928:Chd6 UTSW 2 160,968,000 (GRCm38) splice site probably benign
R1973:Chd6 UTSW 2 160,966,387 (GRCm38) missense probably damaging 0.99
R2200:Chd6 UTSW 2 160,983,753 (GRCm38) missense probably damaging 1.00
R2340:Chd6 UTSW 2 160,965,759 (GRCm38) frame shift probably null
R2341:Chd6 UTSW 2 160,965,759 (GRCm38) frame shift probably null
R2519:Chd6 UTSW 2 161,029,876 (GRCm38) missense possibly damaging 0.66
R2919:Chd6 UTSW 2 160,967,880 (GRCm38) missense possibly damaging 0.89
R3025:Chd6 UTSW 2 160,966,552 (GRCm38) small deletion probably benign
R3426:Chd6 UTSW 2 160,990,255 (GRCm38) missense probably damaging 1.00
R3427:Chd6 UTSW 2 160,990,255 (GRCm38) missense probably damaging 1.00
R4042:Chd6 UTSW 2 160,988,333 (GRCm38) missense probably damaging 1.00
R4273:Chd6 UTSW 2 160,961,291 (GRCm38) missense probably benign 0.04
R4360:Chd6 UTSW 2 160,949,856 (GRCm38) missense possibly damaging 0.48
R4399:Chd6 UTSW 2 160,965,318 (GRCm38) missense probably benign
R4458:Chd6 UTSW 2 161,029,876 (GRCm38) missense possibly damaging 0.66
R4583:Chd6 UTSW 2 161,014,194 (GRCm38) missense probably damaging 1.00
R4625:Chd6 UTSW 2 160,969,492 (GRCm38) missense probably damaging 1.00
R4740:Chd6 UTSW 2 160,970,183 (GRCm38) missense probably benign
R4765:Chd6 UTSW 2 160,966,244 (GRCm38) nonsense probably null
R4779:Chd6 UTSW 2 160,949,557 (GRCm38) missense probably damaging 1.00
R4877:Chd6 UTSW 2 161,029,299 (GRCm38) splice site probably benign
R5068:Chd6 UTSW 2 160,966,369 (GRCm38) missense possibly damaging 0.54
R5215:Chd6 UTSW 2 160,949,953 (GRCm38) missense probably damaging 1.00
R5275:Chd6 UTSW 2 160,969,363 (GRCm38) missense probably benign
R5405:Chd6 UTSW 2 160,965,390 (GRCm38) missense probably benign
R5598:Chd6 UTSW 2 161,014,112 (GRCm38) missense probably damaging 1.00
R5693:Chd6 UTSW 2 160,965,265 (GRCm38) missense probably benign
R5697:Chd6 UTSW 2 161,018,051 (GRCm38) missense probably damaging 1.00
R5715:Chd6 UTSW 2 160,949,878 (GRCm38) missense probably benign 0.00
R5759:Chd6 UTSW 2 160,983,762 (GRCm38) missense possibly damaging 0.91
R5761:Chd6 UTSW 2 160,957,079 (GRCm38) missense probably damaging 1.00
R5761:Chd6 UTSW 2 160,957,078 (GRCm38) missense probably damaging 1.00
R5954:Chd6 UTSW 2 160,965,827 (GRCm38) missense probably benign 0.00
R6025:Chd6 UTSW 2 160,965,582 (GRCm38) missense probably benign
R6104:Chd6 UTSW 2 161,014,132 (GRCm38) missense probably damaging 1.00
R6393:Chd6 UTSW 2 160,979,487 (GRCm38) missense probably damaging 1.00
R6452:Chd6 UTSW 2 160,965,498 (GRCm38) missense possibly damaging 0.76
R6468:Chd6 UTSW 2 161,013,067 (GRCm38) missense probably damaging 1.00
R6784:Chd6 UTSW 2 160,966,254 (GRCm38) missense probably damaging 1.00
R6803:Chd6 UTSW 2 160,960,359 (GRCm38) missense possibly damaging 0.64
R6869:Chd6 UTSW 2 160,965,730 (GRCm38) missense probably benign
R6895:Chd6 UTSW 2 160,988,340 (GRCm38) missense probably damaging 1.00
R6925:Chd6 UTSW 2 161,013,127 (GRCm38) missense probably damaging 0.98
R7061:Chd6 UTSW 2 161,025,965 (GRCm38) nonsense probably null
R7064:Chd6 UTSW 2 160,950,063 (GRCm38) missense probably damaging 1.00
R7248:Chd6 UTSW 2 160,961,279 (GRCm38) nonsense probably null
R7287:Chd6 UTSW 2 161,008,392 (GRCm38) missense probably benign 0.07
R7431:Chd6 UTSW 2 161,026,328 (GRCm38) missense possibly damaging 0.92
R7486:Chd6 UTSW 2 160,950,003 (GRCm38) missense probably damaging 1.00
R7509:Chd6 UTSW 2 161,013,154 (GRCm38) missense probably damaging 1.00
R7699:Chd6 UTSW 2 161,025,943 (GRCm38) missense probably benign 0.13
R7748:Chd6 UTSW 2 160,966,619 (GRCm38) missense probably benign 0.37
R7785:Chd6 UTSW 2 160,970,175 (GRCm38) missense possibly damaging 0.51
R8002:Chd6 UTSW 2 160,990,321 (GRCm38) missense probably damaging 1.00
R8261:Chd6 UTSW 2 160,957,082 (GRCm38) missense probably damaging 1.00
R8317:Chd6 UTSW 2 160,990,321 (GRCm38) missense probably damaging 1.00
R8388:Chd6 UTSW 2 161,019,651 (GRCm38) missense probably damaging 1.00
R8865:Chd6 UTSW 2 161,021,069 (GRCm38) missense probably benign 0.10
R8867:Chd6 UTSW 2 161,021,069 (GRCm38) missense probably benign 0.10
R8996:Chd6 UTSW 2 160,981,623 (GRCm38) missense probably damaging 1.00
R9091:Chd6 UTSW 2 161,029,873 (GRCm38) nonsense probably null
R9270:Chd6 UTSW 2 161,029,873 (GRCm38) nonsense probably null
R9310:Chd6 UTSW 2 161,039,261 (GRCm38) missense probably damaging 1.00
R9367:Chd6 UTSW 2 161,029,864 (GRCm38) missense possibly damaging 0.83
R9438:Chd6 UTSW 2 160,957,158 (GRCm38) missense probably benign 0.01
R9756:Chd6 UTSW 2 160,960,339 (GRCm38) missense probably benign
Z1088:Chd6 UTSW 2 160,966,488 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAACTCCAAACATCTGGG -3'
(R):5'- GATAAGCTATGCCAGGACACAG -3'

Sequencing Primer
(F):5'- TGCCTGGCAGCATCATG -3'
(R):5'- CTATGCCAGGACACAGCTGTAG -3'
Posted On 2018-02-28