Incidental Mutation 'R4740:Chd6'
ID 359587
Institutional Source Beutler Lab
Gene Symbol Chd6
Ensembl Gene ENSMUSG00000057133
Gene Name chromodomain helicase DNA binding protein 6
Synonyms 5430439G14Rik, 6330406J24Rik
MMRRC Submission 041965-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.745) question?
Stock # R4740 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 160788898-160950995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 160812103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1363 (D1363E)
Ref Sequence ENSEMBL: ENSMUSP00000042291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039782]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039782
AA Change: D1363E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: D1363E

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
Meta Mutation Damage Score 0.0693 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (95/95)
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
2510009E07Rik C T 16: 21,513,146 (GRCm39) A4T probably benign Het
Aacs T C 5: 125,583,316 (GRCm39) S291P probably damaging Het
Abcb1a T C 5: 8,752,280 (GRCm39) probably null Het
Apol10a C T 15: 77,372,841 (GRCm39) T159I possibly damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Atg16l2 A G 7: 100,946,385 (GRCm39) L129P probably damaging Het
Baiap2l2 T A 15: 79,143,951 (GRCm39) Y381F probably benign Het
Ciao3 A T 17: 26,000,283 (GRCm39) H322L probably damaging Het
Cir1 T C 2: 73,142,867 (GRCm39) probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Clec4d T A 6: 123,245,072 (GRCm39) H117Q probably damaging Het
Cntnap2 A T 6: 45,037,251 (GRCm39) R10W possibly damaging Het
Coro6 A G 11: 77,360,025 (GRCm39) E362G possibly damaging Het
Ctr9 T A 7: 110,634,578 (GRCm39) C196S probably benign Het
Cyp2c55 A G 19: 39,007,173 (GRCm39) K190E probably benign Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dnah11 A G 12: 118,084,279 (GRCm39) F1242L probably benign Het
Dnah2 A G 11: 69,348,868 (GRCm39) W2534R probably damaging Het
Dph7 T C 2: 24,853,143 (GRCm39) S86P possibly damaging Het
Dpp9 A C 17: 56,505,970 (GRCm39) probably null Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Eml4 T G 17: 83,717,459 (GRCm39) D10E probably damaging Het
Enpp1 A T 10: 24,555,146 (GRCm39) C67S probably null Het
Epn1 A G 7: 5,093,012 (GRCm39) D108G probably damaging Het
Eps15 A G 4: 109,200,387 (GRCm39) Y2C probably damaging Het
Fam135b C T 15: 71,335,920 (GRCm39) V425I probably benign Het
Frem2 G A 3: 53,443,240 (GRCm39) A2508V probably benign Het
Fzd3 T A 14: 65,473,193 (GRCm39) M192L possibly damaging Het
Gls C T 1: 52,271,947 (GRCm39) A69T probably damaging Het
Gm10051 T A 5: 133,504,113 (GRCm39) noncoding transcript Het
Gm9271 A G 7: 39,013,346 (GRCm39) noncoding transcript Het
Gramd1b T C 9: 40,227,128 (GRCm39) probably null Het
Gvin-ps6 G A 7: 106,022,782 (GRCm39) noncoding transcript Het
H2-T23 A T 17: 36,343,016 (GRCm39) probably benign Het
H2-T5 T A 17: 36,478,448 (GRCm39) I195F probably damaging Het
Hmbox1 G A 14: 65,134,483 (GRCm39) T39I probably damaging Het
Hmx1 A G 5: 35,549,115 (GRCm39) E136G probably damaging Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A G 8: 111,173,071 (GRCm39) N918S probably benign Het
Igkv5-37 T A 6: 69,940,306 (GRCm39) S113C probably damaging Het
Il36rn T C 2: 24,167,503 (GRCm39) probably benign Het
Mab21l4 A C 1: 93,083,890 (GRCm39) M189R probably benign Het
Marco G T 1: 120,422,499 (GRCm39) T61K probably damaging Het
Med1 T A 11: 98,071,090 (GRCm39) R86* probably null Het
Mertk A G 2: 128,593,914 (GRCm39) Y306C probably damaging Het
Mgat4c T C 10: 102,224,265 (GRCm39) F160L probably damaging Het
Midn A T 10: 79,987,238 (GRCm39) E88V probably null Het
Muc4 G A 16: 32,596,277 (GRCm39) R3163H possibly damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nhlrc4 T C 17: 26,162,577 (GRCm39) T57A probably benign Het
Nlrp1a T C 11: 71,004,466 (GRCm39) probably null Het
Npffr2 A T 5: 89,730,879 (GRCm39) K270* probably null Het
Or10a3 T G 7: 108,480,689 (GRCm39) E41D probably benign Het
Or2b6 T A 13: 21,823,340 (GRCm39) M118L possibly damaging Het
Or51e1 T A 7: 102,359,378 (GRCm39) I304N probably damaging Het
Or8g26 T A 9: 39,095,664 (GRCm39) Y60* probably null Het
Or8k40 C T 2: 86,584,155 (GRCm39) C309Y probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pabpc4l C G 3: 46,400,570 (GRCm39) G358A possibly damaging Het
Pabpc4l C T 3: 46,400,579 (GRCm39) R355H probably benign Het
Parp1 T C 1: 180,417,033 (GRCm39) S606P probably damaging Het
Pkhd1 A G 1: 20,594,354 (GRCm39) V1253A probably benign Het
Psg29 G A 7: 16,942,458 (GRCm39) R153H probably benign Het
Rbm25 A G 12: 83,691,181 (GRCm39) M58V possibly damaging Het
Rbm28 T C 6: 29,125,353 (GRCm39) probably benign Het
Ryr2 A G 13: 11,671,933 (GRCm39) S3436P possibly damaging Het
Slc3a1 A G 17: 85,354,181 (GRCm39) I335V probably benign Het
Slc4a4 T C 5: 89,373,753 (GRCm39) F953S probably damaging Het
Spata20 A G 11: 94,375,404 (GRCm39) I130T possibly damaging Het
Spata31h1 T C 10: 82,119,481 (GRCm39) T4510A possibly damaging Het
Srcap T C 7: 127,148,471 (GRCm39) S1879P probably damaging Het
St18 G C 1: 6,887,828 (GRCm39) V466L probably benign Het
Stard3nl A T 13: 19,551,948 (GRCm39) M166K probably benign Het
Stard3nl G A 13: 19,560,736 (GRCm39) T13M probably damaging Het
Stil A G 4: 114,863,979 (GRCm39) T74A probably benign Het
Syt6 T G 3: 103,532,972 (GRCm39) M367R probably damaging Het
Tacc1 T C 8: 25,672,581 (GRCm39) T125A possibly damaging Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tcaf1 A G 6: 42,663,809 (GRCm39) S24P probably benign Het
Trim75 T G 8: 65,435,199 (GRCm39) Y417S probably damaging Het
Ttll12 T C 15: 83,464,321 (GRCm39) Y503C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Zfp593 T C 4: 133,972,077 (GRCm39) probably benign Het
Zfp956 T C 6: 47,939,476 (GRCm39) S175P probably damaging Het
Other mutations in Chd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Chd6 APN 2 160,883,999 (GRCm39) missense probably benign 0.01
IGL00899:Chd6 APN 2 160,871,218 (GRCm39) splice site probably benign
IGL01104:Chd6 APN 2 160,803,847 (GRCm39) missense probably damaging 1.00
IGL01295:Chd6 APN 2 160,830,290 (GRCm39) splice site probably benign
IGL01717:Chd6 APN 2 160,807,179 (GRCm39) missense possibly damaging 0.96
IGL01795:Chd6 APN 2 160,803,294 (GRCm39) missense probably benign 0.00
IGL01814:Chd6 APN 2 160,901,849 (GRCm39) missense probably benign 0.25
IGL02016:Chd6 APN 2 160,825,598 (GRCm39) missense probably damaging 1.00
IGL02104:Chd6 APN 2 160,819,432 (GRCm39) missense probably benign
IGL02158:Chd6 APN 2 160,868,212 (GRCm39) missense possibly damaging 0.73
IGL02313:Chd6 APN 2 160,807,595 (GRCm39) missense probably damaging 1.00
IGL02472:Chd6 APN 2 160,826,372 (GRCm39) splice site probably benign
IGL02522:Chd6 APN 2 160,807,716 (GRCm39) missense probably benign 0.30
IGL02626:Chd6 APN 2 160,881,270 (GRCm39) splice site probably benign
IGL02727:Chd6 APN 2 160,811,383 (GRCm39) missense probably damaging 0.96
IGL02738:Chd6 APN 2 160,807,618 (GRCm39) missense probably benign 0.45
IGL02743:Chd6 APN 2 160,802,183 (GRCm39) missense probably damaging 1.00
IGL02800:Chd6 APN 2 160,826,552 (GRCm39) missense probably damaging 1.00
IGL02811:Chd6 APN 2 160,832,221 (GRCm39) missense probably damaging 1.00
IGL02850:Chd6 APN 2 160,861,536 (GRCm39) nonsense probably null
IGL02979:Chd6 APN 2 160,808,090 (GRCm39) missense possibly damaging 0.48
IGL02993:Chd6 APN 2 160,894,304 (GRCm39) splice site probably benign
IGL03277:Chd6 APN 2 160,824,981 (GRCm39) missense probably null 1.00
IGL03346:Chd6 APN 2 160,802,282 (GRCm39) missense probably benign 0.00
IGL03357:Chd6 APN 2 160,859,936 (GRCm39) splice site probably benign
IGL03134:Chd6 UTSW 2 160,807,403 (GRCm39) missense possibly damaging 0.88
R0106:Chd6 UTSW 2 160,809,822 (GRCm39) missense probably damaging 1.00
R0106:Chd6 UTSW 2 160,809,822 (GRCm39) missense probably damaging 1.00
R0212:Chd6 UTSW 2 160,894,767 (GRCm39) missense probably damaging 0.99
R0363:Chd6 UTSW 2 160,856,244 (GRCm39) missense probably damaging 1.00
R0399:Chd6 UTSW 2 160,894,608 (GRCm39) missense probably damaging 1.00
R0511:Chd6 UTSW 2 160,834,111 (GRCm39) missense probably damaging 0.99
R0771:Chd6 UTSW 2 160,861,500 (GRCm39) missense probably damaging 1.00
R1147:Chd6 UTSW 2 160,832,191 (GRCm39) missense probably damaging 1.00
R1147:Chd6 UTSW 2 160,832,191 (GRCm39) missense probably damaging 1.00
R1184:Chd6 UTSW 2 160,872,722 (GRCm39) missense probably damaging 1.00
R1277:Chd6 UTSW 2 160,809,735 (GRCm39) missense probably damaging 1.00
R1396:Chd6 UTSW 2 160,825,023 (GRCm39) missense probably damaging 1.00
R1647:Chd6 UTSW 2 160,883,978 (GRCm39) missense probably damaging 1.00
R1648:Chd6 UTSW 2 160,883,978 (GRCm39) missense probably damaging 1.00
R1745:Chd6 UTSW 2 160,823,587 (GRCm39) missense probably damaging 0.96
R1766:Chd6 UTSW 2 160,808,559 (GRCm39) missense probably damaging 1.00
R1871:Chd6 UTSW 2 160,832,176 (GRCm39) missense probably damaging 1.00
R1928:Chd6 UTSW 2 160,809,920 (GRCm39) splice site probably benign
R1973:Chd6 UTSW 2 160,808,307 (GRCm39) missense probably damaging 0.99
R2200:Chd6 UTSW 2 160,825,673 (GRCm39) missense probably damaging 1.00
R2340:Chd6 UTSW 2 160,807,679 (GRCm39) frame shift probably null
R2341:Chd6 UTSW 2 160,807,679 (GRCm39) frame shift probably null
R2519:Chd6 UTSW 2 160,871,796 (GRCm39) missense possibly damaging 0.66
R2919:Chd6 UTSW 2 160,809,800 (GRCm39) missense possibly damaging 0.89
R3025:Chd6 UTSW 2 160,808,472 (GRCm39) small deletion probably benign
R3426:Chd6 UTSW 2 160,832,175 (GRCm39) missense probably damaging 1.00
R3427:Chd6 UTSW 2 160,832,175 (GRCm39) missense probably damaging 1.00
R4042:Chd6 UTSW 2 160,830,253 (GRCm39) missense probably damaging 1.00
R4273:Chd6 UTSW 2 160,803,211 (GRCm39) missense probably benign 0.04
R4360:Chd6 UTSW 2 160,791,776 (GRCm39) missense possibly damaging 0.48
R4399:Chd6 UTSW 2 160,807,238 (GRCm39) missense probably benign
R4458:Chd6 UTSW 2 160,871,796 (GRCm39) missense possibly damaging 0.66
R4583:Chd6 UTSW 2 160,856,114 (GRCm39) missense probably damaging 1.00
R4625:Chd6 UTSW 2 160,811,412 (GRCm39) missense probably damaging 1.00
R4765:Chd6 UTSW 2 160,808,164 (GRCm39) nonsense probably null
R4779:Chd6 UTSW 2 160,791,477 (GRCm39) missense probably damaging 1.00
R4877:Chd6 UTSW 2 160,871,219 (GRCm39) splice site probably benign
R5068:Chd6 UTSW 2 160,808,289 (GRCm39) missense possibly damaging 0.54
R5215:Chd6 UTSW 2 160,791,873 (GRCm39) missense probably damaging 1.00
R5275:Chd6 UTSW 2 160,811,283 (GRCm39) missense probably benign
R5405:Chd6 UTSW 2 160,807,310 (GRCm39) missense probably benign
R5598:Chd6 UTSW 2 160,856,032 (GRCm39) missense probably damaging 1.00
R5693:Chd6 UTSW 2 160,807,185 (GRCm39) missense probably benign
R5697:Chd6 UTSW 2 160,859,971 (GRCm39) missense probably damaging 1.00
R5715:Chd6 UTSW 2 160,791,798 (GRCm39) missense probably benign 0.00
R5759:Chd6 UTSW 2 160,825,682 (GRCm39) missense possibly damaging 0.91
R5761:Chd6 UTSW 2 160,798,999 (GRCm39) missense probably damaging 1.00
R5761:Chd6 UTSW 2 160,798,998 (GRCm39) missense probably damaging 1.00
R5954:Chd6 UTSW 2 160,807,747 (GRCm39) missense probably benign 0.00
R6025:Chd6 UTSW 2 160,807,502 (GRCm39) missense probably benign
R6104:Chd6 UTSW 2 160,856,052 (GRCm39) missense probably damaging 1.00
R6247:Chd6 UTSW 2 160,791,968 (GRCm39) missense probably damaging 1.00
R6393:Chd6 UTSW 2 160,821,407 (GRCm39) missense probably damaging 1.00
R6452:Chd6 UTSW 2 160,807,418 (GRCm39) missense possibly damaging 0.76
R6468:Chd6 UTSW 2 160,854,987 (GRCm39) missense probably damaging 1.00
R6784:Chd6 UTSW 2 160,808,174 (GRCm39) missense probably damaging 1.00
R6803:Chd6 UTSW 2 160,802,279 (GRCm39) missense possibly damaging 0.64
R6869:Chd6 UTSW 2 160,807,650 (GRCm39) missense probably benign
R6895:Chd6 UTSW 2 160,830,260 (GRCm39) missense probably damaging 1.00
R6925:Chd6 UTSW 2 160,855,047 (GRCm39) missense probably damaging 0.98
R7061:Chd6 UTSW 2 160,867,885 (GRCm39) nonsense probably null
R7064:Chd6 UTSW 2 160,791,983 (GRCm39) missense probably damaging 1.00
R7248:Chd6 UTSW 2 160,803,199 (GRCm39) nonsense probably null
R7287:Chd6 UTSW 2 160,850,312 (GRCm39) missense probably benign 0.07
R7431:Chd6 UTSW 2 160,868,248 (GRCm39) missense possibly damaging 0.92
R7486:Chd6 UTSW 2 160,791,923 (GRCm39) missense probably damaging 1.00
R7509:Chd6 UTSW 2 160,855,074 (GRCm39) missense probably damaging 1.00
R7699:Chd6 UTSW 2 160,867,863 (GRCm39) missense probably benign 0.13
R7748:Chd6 UTSW 2 160,808,539 (GRCm39) missense probably benign 0.37
R7785:Chd6 UTSW 2 160,812,095 (GRCm39) missense possibly damaging 0.51
R8002:Chd6 UTSW 2 160,832,241 (GRCm39) missense probably damaging 1.00
R8261:Chd6 UTSW 2 160,799,002 (GRCm39) missense probably damaging 1.00
R8317:Chd6 UTSW 2 160,832,241 (GRCm39) missense probably damaging 1.00
R8388:Chd6 UTSW 2 160,861,571 (GRCm39) missense probably damaging 1.00
R8865:Chd6 UTSW 2 160,862,989 (GRCm39) missense probably benign 0.10
R8867:Chd6 UTSW 2 160,862,989 (GRCm39) missense probably benign 0.10
R8996:Chd6 UTSW 2 160,823,543 (GRCm39) missense probably damaging 1.00
R9091:Chd6 UTSW 2 160,871,793 (GRCm39) nonsense probably null
R9270:Chd6 UTSW 2 160,871,793 (GRCm39) nonsense probably null
R9310:Chd6 UTSW 2 160,881,181 (GRCm39) missense probably damaging 1.00
R9367:Chd6 UTSW 2 160,871,784 (GRCm39) missense possibly damaging 0.83
R9438:Chd6 UTSW 2 160,799,078 (GRCm39) missense probably benign 0.01
R9756:Chd6 UTSW 2 160,802,259 (GRCm39) missense probably benign
Z1088:Chd6 UTSW 2 160,808,408 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGTGTCACTCTAGGGAAGC -3'
(R):5'- TAACCTGATTCTCTGTGGGAAG -3'

Sequencing Primer
(F):5'- CACTCTAGGGAAGCTTAATACAGGTC -3'
(R):5'- CCTGATTCTCTGTGGGAAGAAGCTC -3'
Posted On 2015-11-11