Incidental Mutation 'IGL01717:Chd6'
ID 104964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chd6
Ensembl Gene ENSMUSG00000057133
Gene Name chromodomain helicase DNA binding protein 6
Synonyms 6330406J24Rik, 5430439G14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # IGL01717
Quality Score
Status
Chromosome 2
Chromosomal Location 160946978-161109075 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160965259 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 2012 (Y2012H)
Ref Sequence ENSEMBL: ENSMUSP00000042291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039782]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039782
AA Change: Y2012H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: Y2012H

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 noncoding transcript
Transcript: ENSMUST00000137152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143081
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging 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
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
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
Posted On 2014-01-21