Incidental Mutation 'R5502:Chd4'
ID 430666
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 043063-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5502 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125073144-125107554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125082239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 576 (R576Q)
Ref Sequence ENSEMBL: ENSMUSP00000108011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056889] [ENSMUST00000112390] [ENSMUST00000112392] [ENSMUST00000155261]
AlphaFold Q6PDQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000056889
AA Change: R589Q

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870
AA Change: R589Q

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 possibly damaging
Transcript: ENSMUST00000112390
AA Change: R596Q

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870
AA Change: R596Q

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: R576Q

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870
AA Change: R576Q

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
Meta Mutation Damage Score 0.0734 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.0%
  • 20x: 90.2%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abcc8 A G 7: 45,758,262 (GRCm39) I1268T probably benign Het
Accsl C T 2: 93,687,289 (GRCm39) probably null Het
Actmap A G 7: 26,896,542 (GRCm39) D35G possibly damaging Het
Ank3 A T 10: 69,756,291 (GRCm39) I842F probably benign Het
Bbs9 T A 9: 22,415,370 (GRCm39) L98Q probably damaging Het
Bin2 A G 15: 100,543,286 (GRCm39) V299A probably benign Het
Cabp4 G A 19: 4,181,228 (GRCm39) probably benign Het
Ces2f A T 8: 105,679,155 (GRCm39) H324L possibly damaging Het
Cndp1 A G 18: 84,650,138 (GRCm39) V185A possibly damaging Het
Cntn3 A C 6: 102,242,295 (GRCm39) V450G possibly damaging Het
Col5a2 C A 1: 45,419,286 (GRCm39) G1265W probably damaging Het
Corin G A 5: 72,473,449 (GRCm39) Q754* probably null Het
Cyp4a10 A G 4: 115,382,702 (GRCm39) N291S probably benign Het
Dap3 T C 3: 88,832,633 (GRCm39) Y353C probably damaging Het
Disp1 A G 1: 182,869,450 (GRCm39) V990A probably damaging Het
Dock9 A T 14: 121,847,594 (GRCm39) probably null Het
Dop1b T A 16: 93,590,114 (GRCm39) V179E probably benign Het
Eps15l1 A T 8: 73,132,836 (GRCm39) probably null Het
Fyb2 A T 4: 104,802,521 (GRCm39) Q141L probably damaging Het
Gemin4 A T 11: 76,104,227 (GRCm39) L178* probably null Het
Gm15446 A T 5: 110,088,364 (GRCm39) K25* probably null Het
Gm17067 A T 7: 42,357,843 (GRCm39) C220S probably damaging Het
Gm4868 A G 5: 125,925,042 (GRCm39) noncoding transcript Het
Golga4 GT GTT 9: 118,388,125 (GRCm39) probably null Het
Gria2 T C 3: 80,614,252 (GRCm39) N596S probably damaging Het
Hoxb4 A G 11: 96,211,057 (GRCm39) D219G probably damaging Het
Htr1b T A 9: 81,513,854 (GRCm39) Q251L possibly damaging Het
Ibtk A C 9: 85,602,916 (GRCm39) S696R probably benign Het
Ide C A 19: 37,307,855 (GRCm39) K52N unknown Het
Incenp C A 19: 9,870,728 (GRCm39) L300F unknown Het
Ino80 T C 2: 119,232,877 (GRCm39) Y1147C probably damaging Het
Mme T A 3: 63,207,702 (GRCm39) Y49* probably null Het
Mmp15 A T 8: 96,094,812 (GRCm39) T229S possibly damaging Het
Mtmr4 A T 11: 87,504,904 (GRCm39) N1133I probably damaging Het
Mycbp2 C T 14: 103,411,250 (GRCm39) G284R probably damaging Het
Myo3a T C 2: 22,448,381 (GRCm39) I52T probably damaging Het
Nat8f5 G T 6: 85,794,635 (GRCm39) F108L probably damaging Het
Nbeal1 T A 1: 60,350,158 (GRCm39) H2402Q probably damaging Het
Nexn T A 3: 151,943,941 (GRCm39) E331D probably damaging Het
Nktr C T 9: 121,577,672 (GRCm39) probably benign Het
Oaz3 T C 3: 94,342,392 (GRCm39) D88G probably damaging Het
Or1n1 T C 2: 36,750,282 (GRCm39) Y26C probably damaging Het
Or4l1 A G 14: 50,166,993 (GRCm39) Y3H probably benign Het
Pcdhb9 A T 18: 37,534,656 (GRCm39) T217S possibly damaging Het
Pcdhga2 A T 18: 37,803,605 (GRCm39) D483V possibly damaging Het
Pde5a G T 3: 122,596,681 (GRCm39) G456V probably damaging Het
Qser1 T C 2: 104,616,919 (GRCm39) T1298A probably benign Het
Rapgef5 T C 12: 117,685,064 (GRCm39) V303A probably damaging Het
Rbbp6 T G 7: 122,587,947 (GRCm39) M267R probably damaging Het
Rfx8 C A 1: 39,722,113 (GRCm39) V291F probably damaging Het
Rnf121 T C 7: 101,672,555 (GRCm39) K276R probably null Het
Rtca G T 3: 116,282,931 (GRCm39) Y352* probably null Het
Rusf1 C T 7: 127,884,308 (GRCm39) V225M probably damaging Het
Sacs T C 14: 61,443,549 (GRCm39) V1865A probably damaging Het
Sclt1 C T 3: 41,611,710 (GRCm39) E521K probably benign Het
Setd1a T C 7: 127,396,420 (GRCm39) probably null Het
Slc37a4 G T 9: 44,313,394 (GRCm39) V337L probably benign Het
Slc5a9 G T 4: 111,750,366 (GRCm39) S79* probably null Het
Snrpd2 T C 7: 18,885,247 (GRCm39) V36A probably benign Het
Spata31d1b A T 13: 59,864,486 (GRCm39) N545Y probably damaging Het
Sstr4 CGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 2: 148,237,471 (GRCm39) probably benign Het
St7 G A 6: 17,834,673 (GRCm39) V98I possibly damaging Het
Strip2 A T 6: 29,927,623 (GRCm39) I223F probably benign Het
Syn2 A C 6: 115,255,313 (GRCm39) N542H possibly damaging Het
Tbc1d2b T C 9: 90,109,496 (GRCm39) T327A probably benign Het
Timm44 A T 8: 4,319,992 (GRCm39) F59I possibly damaging Het
Tmem41b A T 7: 109,581,970 (GRCm39) C44* probably null Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Tusc3 A T 8: 39,597,947 (GRCm39) K188* probably null Het
Usp39 T A 6: 72,305,670 (GRCm39) Q371L probably benign Het
Vmn2r13 G T 5: 109,321,580 (GRCm39) N372K probably damaging Het
Zfp961 T A 8: 72,721,903 (GRCm39) Y139N probably 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
R5055:Chd4 UTSW 6 125,077,949 (GRCm39) missense possibly damaging 0.65
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
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'- TGTCAGAACTGCAGGTAAGCC -3'
(R):5'- CTAACAGGTAGTAAGTGAGCCC -3'

Sequencing Primer
(F):5'- ACAGGCTGCACGTGTGAG -3'
(R):5'- TGAGCCCAGGAGCAGAC -3'
Posted On 2016-10-05