Incidental Mutation 'R2519:Chd6'
ID 476607
Institutional Source Beutler Lab
Gene Symbol Chd6
Ensembl Gene ENSMUSG00000057133
Gene Name chromodomain helicase DNA binding protein 6
Synonyms 6330406J24Rik, 5430439G14Rik
MMRRC Submission 040423-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R2519 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 160946978-161109075 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 161029876 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 213 (Y213F)
Ref Sequence ENSEMBL: ENSMUSP00000117075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039782] [ENSMUST00000130265] [ENSMUST00000134178]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039782
SMART Domains Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000130265
AA Change: Y213F

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117075
Gene: ENSMUSG00000057133
AA Change: Y213F

DomainStartEndE-ValueType
low complexity region 1 23 N/A INTRINSIC
Blast:CHROMO 26 210 4e-80 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000134178
SMART Domains Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133

DomainStartEndE-ValueType
low complexity region 86 106 N/A INTRINSIC
low complexity region 113 143 N/A INTRINSIC
low complexity region 213 228 N/A INTRINSIC
CHROMO 288 354 1.35e-4 SMART
CHROMO 371 429 3.48e-7 SMART
DEXDc 455 657 1.73e-39 SMART
HELICc 811 895 3.84e-23 SMART
low complexity region 1079 1093 N/A INTRINSIC
Blast:DEXDc 1107 1152 4e-23 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155066
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (72/73)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408J17Rik G A 10: 93,589,588 (GRCm38) probably benign Het
Actn1 A T 12: 80,192,389 (GRCm38) H247Q probably damaging Het
Adgre1 T C 17: 57,410,956 (GRCm38) C323R probably damaging Het
Adgrf2 T A 17: 42,710,407 (GRCm38) I509F probably damaging Het
Aknad1 A T 3: 108,756,468 (GRCm38) T331S probably damaging Het
Aldh1a3 T C 7: 66,422,299 (GRCm38) D39G probably benign Het
Alms1 C A 6: 85,667,963 (GRCm38) probably benign Het
Ankhd1 T G 18: 36,578,543 (GRCm38) probably null Het
Arfgef2 T C 2: 166,881,244 (GRCm38) S1535P probably benign Het
BC027072 C T 17: 71,751,647 (GRCm38) S345N probably damaging Het
Bicc1 T C 10: 70,930,644 (GRCm38) E916G probably damaging Het
Birc2 A T 9: 7,821,179 (GRCm38) D381E possibly damaging Het
Btbd11 T A 10: 85,651,611 (GRCm38) V981D probably damaging Het
Carnmt1 A G 19: 18,693,711 (GRCm38) I316V probably benign Het
Coq7 A T 7: 118,510,148 (GRCm38) W226R unknown Het
Cyp2d9 G A 15: 82,454,518 (GRCm38) probably null Het
Ddx42 T A 11: 106,245,329 (GRCm38) N635K probably damaging Het
Dmtf1 T C 5: 9,129,323 (GRCm38) T292A possibly damaging Het
Dnajb8 T C 6: 88,222,875 (GRCm38) V131A probably benign Het
Dock6 T C 9: 21,816,333 (GRCm38) E1367G possibly damaging Het
Dvl1 T A 4: 155,855,543 (GRCm38) Y377* probably null Het
Eif4g3 T A 4: 138,097,318 (GRCm38) F278Y probably benign Het
Fancg A T 4: 43,008,787 (GRCm38) L150H probably damaging Het
Fastkd5 T C 2: 130,616,194 (GRCm38) T159A possibly damaging Het
Fkrp G T 7: 16,810,952 (GRCm38) Y328* probably null Het
Fmo3 A T 1: 162,958,305 (GRCm38) V372D probably damaging Het
Gm10639 T G 9: 78,304,439 (GRCm38) L161R probably damaging Het
Gm12184 A G 11: 48,826,123 (GRCm38) I76T probably damaging Het
Gm5065 A T 7: 5,359,834 (GRCm38) I155F probably damaging Het
Gtf2h4 C A 17: 35,670,909 (GRCm38) G143W probably damaging Het
Hivep2 C A 10: 14,128,969 (GRCm38) T437K probably benign Het
Hmcn1 A T 1: 150,773,820 (GRCm38) Y638* probably null Het
Ighv11-2 T A 12: 114,048,292 (GRCm38) Q101L probably damaging Het
Lipf G T 19: 33,965,525 (GRCm38) V78L probably damaging Het
Magi3 T C 3: 104,015,765 (GRCm38) E1212G probably benign Het
Mfap5 T C 6: 122,525,989 (GRCm38) S75P probably damaging Het
Mn1 C A 5: 111,418,552 (GRCm38) H129Q possibly damaging Het
Morc3 A G 16: 93,862,539 (GRCm38) probably null Het
Mrc2 G A 11: 105,348,431 (GRCm38) probably null Het
Myo5c A G 9: 75,250,436 (GRCm38) I224V probably damaging Het
Nupl1 T C 14: 60,223,359 (GRCm38) T486A probably benign Het
Olfr1026 A G 2: 85,923,607 (GRCm38) Y113C probably damaging Het
Olfr910 T A 9: 38,538,985 (GRCm38) V30D probably damaging Het
Parp14 A T 16: 35,858,203 (GRCm38) L465Q possibly damaging Het
Plcd3 A T 11: 103,080,400 (GRCm38) I110N possibly damaging Het
Prx A G 7: 27,518,243 (GRCm38) E862G probably benign Het
Rad50 G A 11: 53,707,185 (GRCm38) probably benign Het
Rbm15 A G 3: 107,330,833 (GRCm38) S750P probably benign Het
Reln C A 5: 22,344,369 (GRCm38) A14S unknown Het
Rph3a T C 5: 120,954,422 (GRCm38) Y372C probably damaging Het
Serpine2 T A 1: 79,799,539 (GRCm38) H187L possibly damaging Het
Slc11a2 T C 15: 100,401,323 (GRCm38) D122G probably damaging Het
Slc25a32 A T 15: 39,096,055 (GRCm38) V289E probably damaging Het
Slc25a46 A T 18: 31,602,761 (GRCm38) S142T probably benign Het
Srm A G 4: 148,591,504 (GRCm38) probably null Het
Srsf5 A G 12: 80,949,096 (GRCm38) D123G probably damaging Het
Stab1 A T 14: 31,154,872 (GRCm38) C832S probably damaging Het
Stab2 A C 10: 86,934,840 (GRCm38) probably benign Het
Suds3 T C 5: 117,094,953 (GRCm38) N282S probably damaging Het
Taar9 A T 10: 24,109,254 (GRCm38) V94E probably damaging Het
Taf2 C A 15: 55,052,247 (GRCm38) A428S probably benign Het
Tbk1 G T 10: 121,557,259 (GRCm38) T462K probably benign Het
Tcaf2 T G 6: 42,629,431 (GRCm38) I530L possibly damaging Het
Tigd4 A G 3: 84,593,914 (GRCm38) Y46C probably damaging Het
Topors G T 4: 40,261,714 (GRCm38) Y523* probably null Het
Tpte T C 8: 22,333,160 (GRCm38) probably benign Het
Trpv5 T A 6: 41,674,350 (GRCm38) Q254L probably damaging Het
Trpv6 G A 6: 41,624,616 (GRCm38) Q457* probably null Het
Ush2a A T 1: 188,267,107 (GRCm38) M205L probably benign Het
Vmn1r90 A T 7: 14,561,718 (GRCm38) Y152N probably damaging Het
Vmn2r124 T A 17: 18,074,018 (GRCm38) V789D probably damaging Het
Vmn2r99 T C 17: 19,378,708 (GRCm38) I218T probably damaging Het
Vstm2b T C 7: 40,902,875 (GRCm38) V248A probably benign Het
Wnk2 T C 13: 49,071,029 (GRCm38) K1019E probably damaging Het
Zfhx4 C T 3: 5,403,358 (GRCm38) P2859S probably benign Het
Zfp229 T A 17: 21,745,587 (GRCm38) F266Y possibly damaging Het
Zfp616 T A 11: 74,084,268 (GRCm38) C454* probably null 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
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
R6247:Chd6 UTSW 2 160,950,048 (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
Posted On 2017-05-11