Incidental Mutation 'R5055:Chd4'
ID 390771
Institutional Source Beutler Lab
Gene Symbol Chd4
Ensembl Gene ENSMUSG00000063870
Gene Name chromodomain helicase DNA binding protein 4
Synonyms D6Ertd380e, 9530019N15Rik, Mi-2beta
MMRRC Submission 042645-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5055 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125073144-125107554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125077949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 137 (D137G)
Ref Sequence ENSEMBL: ENSMUSP00000108011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056889] [ENSMUST00000112390] [ENSMUST00000112392] [ENSMUST00000155261]
AlphaFold Q6PDQ2
Predicted Effect probably benign
Transcript: ENSMUST00000056889
AA Change: D137G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870
AA Change: D137G

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
low complexity region 107 144 N/A INTRINSIC
Pfam:CHDNT 156 210 7.7e-35 PFAM
low complexity region 217 249 N/A INTRINSIC
low complexity region 271 291 N/A INTRINSIC
low complexity region 296 318 N/A INTRINSIC
low complexity region 321 347 N/A INTRINSIC
PHD 365 408 7.17e-15 SMART
RING 366 407 7.46e-1 SMART
low complexity region 424 443 N/A INTRINSIC
PHD 444 487 4.41e-15 SMART
RING 445 486 2.63e0 SMART
CHROMO 492 572 8.11e-17 SMART
CHROMO 613 670 1.98e-11 SMART
low complexity region 675 694 N/A INTRINSIC
DEXDc 715 927 2.73e-37 SMART
low complexity region 1044 1056 N/A INTRINSIC
HELICc 1073 1157 7.61e-27 SMART
DUF1087 1282 1346 5.56e-33 SMART
DUF1086 1359 1516 4.05e-108 SMART
low complexity region 1526 1540 N/A INTRINSIC
low complexity region 1560 1578 N/A INTRINSIC
low complexity region 1590 1633 N/A INTRINSIC
low complexity region 1635 1653 N/A INTRINSIC
low complexity region 1661 1674 N/A INTRINSIC
Pfam:CHDCT2 1727 1899 1.9e-98 PFAM
low complexity region 1903 1915 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112390
AA Change: D144G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870
AA Change: D144G

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 114 151 N/A INTRINSIC
Pfam:CHDNT 164 217 2e-28 PFAM
low complexity region 224 256 N/A INTRINSIC
low complexity region 278 298 N/A INTRINSIC
low complexity region 303 325 N/A INTRINSIC
low complexity region 328 354 N/A INTRINSIC
PHD 372 415 7.17e-15 SMART
RING 373 414 7.46e-1 SMART
low complexity region 431 450 N/A INTRINSIC
PHD 451 494 4.41e-15 SMART
RING 452 493 2.63e0 SMART
CHROMO 499 579 8.11e-17 SMART
CHROMO 620 677 1.98e-11 SMART
low complexity region 682 701 N/A INTRINSIC
DEXDc 722 934 2.73e-37 SMART
low complexity region 1051 1063 N/A INTRINSIC
HELICc 1080 1164 7.61e-27 SMART
DUF1087 1289 1353 5.56e-33 SMART
DUF1086 1366 1523 4.05e-108 SMART
low complexity region 1533 1547 N/A INTRINSIC
low complexity region 1567 1585 N/A INTRINSIC
low complexity region 1597 1640 N/A INTRINSIC
low complexity region 1642 1660 N/A INTRINSIC
low complexity region 1668 1681 N/A INTRINSIC
Pfam:CHDCT2 1735 1906 4.3e-90 PFAM
low complexity region 1910 1922 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112392
AA Change: D137G

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870
AA Change: D137G

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
low complexity region 107 144 N/A INTRINSIC
Pfam:CHDNT 156 210 1.1e-34 PFAM
low complexity region 217 249 N/A INTRINSIC
low complexity region 271 291 N/A INTRINSIC
low complexity region 296 318 N/A INTRINSIC
low complexity region 321 347 N/A INTRINSIC
PHD 352 395 7.17e-15 SMART
RING 353 394 7.46e-1 SMART
low complexity region 411 430 N/A INTRINSIC
PHD 431 474 4.41e-15 SMART
RING 432 473 2.63e0 SMART
CHROMO 479 559 8.11e-17 SMART
CHROMO 600 657 1.98e-11 SMART
low complexity region 662 681 N/A INTRINSIC
DEXDc 702 914 2.73e-37 SMART
low complexity region 1031 1043 N/A INTRINSIC
HELICc 1060 1144 7.61e-27 SMART
DUF1087 1269 1333 5.56e-33 SMART
DUF1086 1346 1503 4.05e-108 SMART
low complexity region 1513 1527 N/A INTRINSIC
low complexity region 1547 1565 N/A INTRINSIC
low complexity region 1577 1620 N/A INTRINSIC
low complexity region 1622 1640 N/A INTRINSIC
low complexity region 1648 1661 N/A INTRINSIC
Pfam:CHDCT2 1714 1886 2.8e-98 PFAM
low complexity region 1890 1902 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155261
SMART Domains Protein: ENSMUSP00000122806
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
Blast:DEXDc 4 25 1e-5 BLAST
low complexity region 29 45 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183346
Meta Mutation Damage Score 0.0961 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 98% (84/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E3.5 and E4.5, absent blastocoele failure of trophectoderm function and increased apoptosis in blastocysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 G A 11: 46,013,996 (GRCm39) V329I probably damaging Het
Adgrl3 C A 5: 81,794,398 (GRCm39) A541E possibly damaging Het
Agbl1 A T 7: 76,063,325 (GRCm39) I263F probably damaging Het
Ash1l T C 3: 88,930,519 (GRCm39) probably null Het
Bccip A G 7: 133,316,652 (GRCm39) T91A probably benign Het
Bnc1 A T 7: 81,624,163 (GRCm39) F355I probably damaging Het
Bpifa2 A T 2: 153,855,630 (GRCm39) D185V probably damaging Het
Capn8 T A 1: 182,399,526 (GRCm39) V89D probably damaging Het
Cfap46 A T 7: 139,241,106 (GRCm39) M421K probably damaging Het
Chd2 A T 7: 73,130,256 (GRCm39) L800M probably damaging Het
Crtap A G 9: 114,219,208 (GRCm39) Y154H probably benign Het
Ctdp1 T A 18: 80,499,303 (GRCm39) Q213L probably damaging Het
Cts6 T C 13: 61,344,164 (GRCm39) Y296C probably damaging Het
Daxx G T 17: 34,131,134 (GRCm39) V354F probably benign Het
Dnah2 A G 11: 69,411,599 (GRCm39) I341T possibly damaging Het
Epha2 A G 4: 141,036,380 (GRCm39) D272G probably benign Het
Etfa A G 9: 55,407,417 (GRCm39) V24A probably damaging Het
Fbxl7 C A 15: 26,553,022 (GRCm39) G82W probably damaging Het
Fcamr G A 1: 130,739,174 (GRCm39) C158Y probably damaging Het
Fyb1 A C 15: 6,614,630 (GRCm39) probably benign Het
Gars1 G A 6: 55,045,077 (GRCm39) R454H probably damaging Het
Ghsr T C 3: 27,426,421 (GRCm39) V159A probably benign Het
Glp1r A T 17: 31,137,861 (GRCm39) Q97H probably benign Het
Gm27047 T C 6: 130,606,909 (GRCm39) noncoding transcript Het
Igkv3-3 A C 6: 70,664,223 (GRCm39) I22L probably benign Het
Inpp5b G T 4: 124,636,824 (GRCm39) probably null Het
Ipo9 C A 1: 135,330,097 (GRCm39) E448* probably null Het
Itgb2l A T 16: 96,229,003 (GRCm39) I400N probably damaging Het
Kat6b T A 14: 21,567,062 (GRCm39) H40Q probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnq2 G T 2: 180,728,554 (GRCm39) probably benign Het
Klf7 T C 1: 64,118,439 (GRCm39) T53A probably benign Het
Kmt2a A G 9: 44,729,649 (GRCm39) probably benign Het
Lrp10 C T 14: 54,705,802 (GRCm39) R331C probably benign Het
Map4k5 A T 12: 69,878,332 (GRCm39) D289E probably benign Het
Mfsd4b2 A T 10: 39,799,773 (GRCm39) M43K possibly damaging Het
Msr1 T G 8: 40,076,997 (GRCm39) R138S possibly damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Myh9 G A 15: 77,648,723 (GRCm39) A1711V probably benign Het
Myo18b A G 5: 113,023,083 (GRCm39) probably benign Het
Nampt A T 12: 32,883,120 (GRCm39) N102Y possibly damaging Het
Nell2 T C 15: 95,371,460 (GRCm39) I92V probably benign Het
Nes A G 3: 87,884,521 (GRCm39) N883D probably benign Het
Neurl3 T A 1: 36,312,463 (GRCm39) probably benign Het
Ocln T A 13: 100,675,930 (GRCm39) T188S probably benign Het
Or2ag20 T A 7: 106,464,937 (GRCm39) M250K probably damaging Het
Or5m10 T C 2: 85,717,585 (GRCm39) F147S probably benign Het
Parp14 T A 16: 35,664,733 (GRCm39) Q1305L probably benign Het
Pde3a C T 6: 141,433,682 (GRCm39) Q855* probably null Het
Pde4b T C 4: 102,052,311 (GRCm39) probably benign Het
Pdk2 T C 11: 94,930,242 (GRCm39) M65V probably benign Het
Phf21a T C 2: 92,182,201 (GRCm39) S377P probably damaging Het
Plcb2 T A 2: 118,548,703 (GRCm39) T408S probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ppp6r2 A G 15: 89,167,152 (GRCm39) D789G probably benign Het
Prdm16 T C 4: 154,419,719 (GRCm39) M897V possibly damaging Het
Prss57 A G 10: 79,620,178 (GRCm39) probably null Het
Psd G T 19: 46,310,907 (GRCm39) L381I probably benign Het
Ptprq A T 10: 107,370,540 (GRCm39) D2050E probably benign Het
Rfc1 G T 5: 65,423,505 (GRCm39) N1034K probably damaging Het
Ryr3 C T 2: 112,661,504 (GRCm39) G1829S probably benign Het
Scaper T C 9: 55,767,003 (GRCm39) probably null Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Slc28a1 A G 7: 80,818,796 (GRCm39) N583S possibly damaging Het
Slc35e3 C T 10: 117,580,884 (GRCm39) G140D probably damaging Het
Slc6a9 G A 4: 117,725,347 (GRCm39) probably null Het
Sptlc1 A G 13: 53,496,218 (GRCm39) S376P probably benign Het
Sspo G A 6: 48,441,729 (GRCm39) C1913Y probably damaging Het
Taar7b A T 10: 23,876,845 (GRCm39) I337F possibly damaging Het
Tdpoz2 T A 3: 93,559,235 (GRCm39) I246F probably damaging Het
Trpa1 C T 1: 14,946,183 (GRCm39) V983M probably damaging Het
Trpm5 A T 7: 142,626,521 (GRCm39) M1112K probably benign Het
Tsbp1 G A 17: 34,667,770 (GRCm39) C154Y possibly damaging Het
Uso1 A T 5: 92,340,594 (GRCm39) K670I probably benign Het
Washc4 A G 10: 83,392,771 (GRCm39) D257G probably damaging Het
Wdr41 T A 13: 95,151,725 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,860 (GRCm39) Q668R possibly damaging Het
Other mutations in Chd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Chd4 APN 6 125,086,860 (GRCm39) missense probably damaging 1.00
IGL00917:Chd4 APN 6 125,081,909 (GRCm39) missense possibly damaging 0.95
IGL01088:Chd4 APN 6 125,099,431 (GRCm39) unclassified probably benign
IGL02005:Chd4 APN 6 125,105,779 (GRCm39) missense possibly damaging 0.71
IGL02405:Chd4 APN 6 125,074,190 (GRCm39) missense probably benign 0.06
IGL02707:Chd4 APN 6 125,085,730 (GRCm39) missense probably damaging 1.00
IGL02976:Chd4 APN 6 125,098,331 (GRCm39) missense probably damaging 1.00
IGL03001:Chd4 APN 6 125,078,529 (GRCm39) missense possibly damaging 0.93
FR4304:Chd4 UTSW 6 125,099,107 (GRCm39) unclassified probably benign
FR4589:Chd4 UTSW 6 125,099,102 (GRCm39) unclassified probably benign
FR4589:Chd4 UTSW 6 125,099,096 (GRCm39) missense probably benign 0.02
FR4737:Chd4 UTSW 6 125,099,094 (GRCm39) unclassified probably benign
FR4976:Chd4 UTSW 6 125,099,094 (GRCm39) unclassified probably benign
R0311:Chd4 UTSW 6 125,078,628 (GRCm39) missense probably benign 0.15
R0414:Chd4 UTSW 6 125,084,443 (GRCm39) missense probably damaging 1.00
R0647:Chd4 UTSW 6 125,086,086 (GRCm39) missense probably damaging 1.00
R0656:Chd4 UTSW 6 125,079,930 (GRCm39) missense probably damaging 0.98
R1342:Chd4 UTSW 6 125,074,151 (GRCm39) missense probably benign 0.40
R1651:Chd4 UTSW 6 125,100,547 (GRCm39) missense possibly damaging 0.92
R1850:Chd4 UTSW 6 125,098,619 (GRCm39) missense probably damaging 1.00
R2190:Chd4 UTSW 6 125,091,260 (GRCm39) missense probably benign 0.18
R2192:Chd4 UTSW 6 125,082,320 (GRCm39) missense probably damaging 0.99
R2858:Chd4 UTSW 6 125,081,849 (GRCm39) missense probably damaging 0.99
R3406:Chd4 UTSW 6 125,098,970 (GRCm39) missense probably benign 0.09
R3431:Chd4 UTSW 6 125,097,523 (GRCm39) splice site probably benign
R4330:Chd4 UTSW 6 125,078,565 (GRCm39) missense probably benign 0.29
R4394:Chd4 UTSW 6 125,098,581 (GRCm39) missense probably damaging 0.99
R4538:Chd4 UTSW 6 125,097,649 (GRCm39) missense probably damaging 0.99
R4664:Chd4 UTSW 6 125,078,465 (GRCm39) missense possibly damaging 0.58
R4805:Chd4 UTSW 6 125,105,908 (GRCm39) missense possibly damaging 0.86
R5050:Chd4 UTSW 6 125,084,443 (GRCm39) missense probably damaging 1.00
R5232:Chd4 UTSW 6 125,098,273 (GRCm39) missense probably damaging 1.00
R5314:Chd4 UTSW 6 125,077,551 (GRCm39) missense probably damaging 0.96
R5343:Chd4 UTSW 6 125,097,326 (GRCm39) missense probably damaging 1.00
R5502:Chd4 UTSW 6 125,082,239 (GRCm39) missense possibly damaging 0.83
R5613:Chd4 UTSW 6 125,097,509 (GRCm39) missense probably damaging 0.99
R6211:Chd4 UTSW 6 125,078,248 (GRCm39) missense possibly damaging 0.82
R6606:Chd4 UTSW 6 125,086,389 (GRCm39) missense probably damaging 0.99
R6753:Chd4 UTSW 6 125,091,263 (GRCm39) missense probably benign 0.01
R6808:Chd4 UTSW 6 125,099,086 (GRCm39) missense possibly damaging 0.53
R6939:Chd4 UTSW 6 125,083,501 (GRCm39) missense probably damaging 0.99
R6968:Chd4 UTSW 6 125,085,281 (GRCm39) missense probably damaging 1.00
R6973:Chd4 UTSW 6 125,099,825 (GRCm39) missense possibly damaging 0.53
R6992:Chd4 UTSW 6 125,091,339 (GRCm39) missense probably benign 0.14
R7058:Chd4 UTSW 6 125,085,405 (GRCm39) missense possibly damaging 0.74
R7081:Chd4 UTSW 6 125,106,948 (GRCm39) missense unknown
R7253:Chd4 UTSW 6 125,083,555 (GRCm39) splice site probably null
R7423:Chd4 UTSW 6 125,105,822 (GRCm39) missense possibly damaging 0.92
R7535:Chd4 UTSW 6 125,105,836 (GRCm39) missense probably benign 0.32
R7566:Chd4 UTSW 6 125,078,866 (GRCm39) missense possibly damaging 0.86
R8053:Chd4 UTSW 6 125,105,779 (GRCm39) nonsense probably null
R8155:Chd4 UTSW 6 125,082,287 (GRCm39) missense probably benign 0.00
R8711:Chd4 UTSW 6 125,100,485 (GRCm39) unclassified probably benign
R8783:Chd4 UTSW 6 125,100,347 (GRCm39) missense possibly damaging 0.53
R9020:Chd4 UTSW 6 125,084,469 (GRCm39) missense probably damaging 1.00
R9093:Chd4 UTSW 6 125,090,974 (GRCm39) missense probably benign 0.13
R9417:Chd4 UTSW 6 125,097,688 (GRCm39) missense probably damaging 0.99
R9509:Chd4 UTSW 6 125,099,485 (GRCm39) missense possibly damaging 0.96
RF046:Chd4 UTSW 6 125,099,094 (GRCm39) unclassified probably benign
RF052:Chd4 UTSW 6 125,099,108 (GRCm39) unclassified probably benign
RF058:Chd4 UTSW 6 125,099,094 (GRCm39) unclassified probably benign
RF060:Chd4 UTSW 6 125,099,108 (GRCm39) unclassified probably benign
X0025:Chd4 UTSW 6 125,083,430 (GRCm39) nonsense probably null
X0027:Chd4 UTSW 6 125,079,127 (GRCm39) missense probably damaging 0.98
X0063:Chd4 UTSW 6 125,090,978 (GRCm39) missense probably damaging 1.00
Z1176:Chd4 UTSW 6 125,078,561 (GRCm39) missense probably benign 0.36
Z1176:Chd4 UTSW 6 125,077,823 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TTACTCTTATGCCGGCAGC -3'
(R):5'- TGCTCACTGGCTAAGACAACC -3'

Sequencing Primer
(F):5'- TTATGCCGGCAGCTGGGG -3'
(R):5'- CTGGCTAAGACAACCGACTGG -3'
Posted On 2016-06-06