Incidental Mutation 'R8783:Chd4'
ID 670403
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 068631-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8783 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 125073144-125107554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125100347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1725 (T1725A)
Ref Sequence ENSEMBL: ENSMUSP00000060054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056889] [ENSMUST00000112390] [ENSMUST00000112392] [ENSMUST00000124317]
AlphaFold Q6PDQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000056889
AA Change: T1725A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870
AA Change: T1725A

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: T1732A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870
AA Change: T1732A

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: T1712A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870
AA Change: T1712A

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: ENSMUST00000124317
SMART Domains Protein: ENSMUSP00000120704
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
PDB:3MWY|W 1 137 2e-13 PDB
DUF1087 141 205 5.56e-33 SMART
low complexity region 209 221 N/A INTRINSIC
DUF1086 246 403 4.05e-108 SMART
low complexity region 413 427 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (75/75)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik T A 13: 54,700,520 (GRCm39) M273L probably benign Het
Aars1 A G 8: 111,776,515 (GRCm39) N657S probably benign Het
Ahnak A T 19: 8,988,837 (GRCm39) N3374Y probably damaging Het
Ank2 T C 3: 126,846,455 (GRCm39) E180G probably damaging Het
Arhgap20 T A 9: 51,727,967 (GRCm39) probably benign Het
Armc5 G A 7: 127,837,425 (GRCm39) A43T probably damaging Het
Atad3a T A 4: 155,840,152 (GRCm39) D142V probably damaging Het
B4galnt4 A T 7: 140,643,759 (GRCm39) K54M probably damaging Het
Bcl11b T C 12: 107,883,562 (GRCm39) E251G probably damaging Het
Bptf A G 11: 107,022,357 (GRCm39) V131A unknown Het
Btbd7 T A 12: 102,754,501 (GRCm39) H755L probably benign Het
Cadps2 A G 6: 23,302,303 (GRCm39) V1128A possibly damaging Het
Ccl2 T C 11: 81,927,360 (GRCm39) I43T probably damaging Het
Cdc25b T G 2: 131,033,772 (GRCm39) S207A probably benign Het
Cmya5 A T 13: 93,225,888 (GRCm39) S3067T possibly damaging Het
Col9a3 G A 2: 180,255,970 (GRCm39) D448N probably damaging Het
Cpxm1 C A 2: 130,237,643 (GRCm39) R187S probably benign Het
Cramp1 T A 17: 25,193,732 (GRCm39) N916I probably damaging Het
Creld1 A G 6: 113,468,686 (GRCm39) Y269C probably damaging Het
Ctsz G T 2: 174,280,675 (GRCm39) S6* probably null Het
Cul7 T C 17: 46,966,575 (GRCm39) S633P probably benign Het
Eci2 T A 13: 35,174,180 (GRCm39) N160I probably damaging Het
Eef2 T A 10: 81,015,499 (GRCm39) M340K probably damaging Het
Enpp6 A T 8: 47,440,220 (GRCm39) Y72F possibly damaging Het
Erbb4 A C 1: 68,079,331 (GRCm39) Y1250D possibly damaging Het
Fhad1 C T 4: 141,636,403 (GRCm39) V1146M probably benign Het
Fryl T C 5: 73,226,185 (GRCm39) Y1826C probably benign Het
Gm3252 A G 14: 4,743,761 (GRCm38) K200E probably benign Het
Gramd1a T C 7: 30,832,220 (GRCm39) T640A possibly damaging Het
Gse1 A T 8: 121,303,117 (GRCm39) Q1086L unknown Het
Gtf2f2 C A 14: 76,245,164 (GRCm39) G41W probably damaging Het
Hhat A G 1: 192,196,245 (GRCm39) Y483H probably damaging Het
Ifna13 T A 4: 88,562,526 (GRCm39) R33W probably damaging Het
Ighg2c T A 12: 113,252,412 (GRCm39) S47C Het
Ing5 A T 1: 93,740,154 (GRCm39) D101V probably damaging Het
Kif23 T C 9: 61,834,853 (GRCm39) T379A probably benign Het
Ltn1 A T 16: 87,207,247 (GRCm39) S898T probably benign Het
Mep1a T C 17: 43,789,081 (GRCm39) D578G probably benign Het
Mgam A T 6: 40,633,423 (GRCm39) H243L probably damaging Het
Mlf1 G A 3: 67,291,997 (GRCm39) R54H probably benign Het
Mtus2 A T 5: 148,019,861 (GRCm39) K752M probably damaging Het
Muc21 T C 17: 35,930,875 (GRCm39) T1104A unknown Het
Mup18 T A 4: 61,591,767 (GRCm39) D53V probably benign Het
Neb A T 2: 52,148,644 (GRCm39) D2634E probably damaging Het
Nfatc3 A T 8: 106,825,784 (GRCm39) I620F possibly damaging Het
Nrg1 A T 8: 32,448,629 (GRCm39) L104Q probably benign Het
Nsd2 T A 5: 34,036,455 (GRCm39) D646E possibly damaging Het
Or10w1 A T 19: 13,632,323 (GRCm39) R177W probably damaging Het
Or4p19 T C 2: 88,242,951 (GRCm39) N17S probably benign Het
Or51ai2 A T 7: 103,586,751 (GRCm39) T55S possibly damaging Het
Pbp2 T C 6: 135,287,330 (GRCm39) S6G probably benign Het
Pcdhga5 T C 18: 37,828,596 (GRCm39) I348T probably benign Het
Pdxk A G 10: 78,287,339 (GRCm39) V74A probably benign Het
Pdzrn3 C T 6: 101,132,841 (GRCm39) R469H probably damaging Het
Pla2g4a A T 1: 149,740,741 (GRCm39) S395R probably damaging Het
Polr2i A G 7: 29,931,790 (GRCm39) Y7C possibly damaging Het
Psmc5 A T 11: 106,153,858 (GRCm39) K397N possibly damaging Het
Ptprz1 A G 6: 23,002,026 (GRCm39) D1372G probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rapgef2 A T 3: 79,005,651 (GRCm39) V181E probably damaging Het
Rassf3 T G 10: 121,253,069 (GRCm39) N46T probably benign Het
Rnf123 T C 9: 107,946,272 (GRCm39) E301G probably benign Het
Sec24b T A 3: 129,783,342 (GRCm39) M1099L probably benign Het
Shisa4 A G 1: 135,300,944 (GRCm39) C109R probably damaging Het
Slc7a1 T A 5: 148,279,643 (GRCm39) E237V probably benign Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Tas2r105 A G 6: 131,663,732 (GRCm39) I232T possibly damaging Het
Tas2r136 T C 6: 132,754,612 (GRCm39) T172A probably benign Het
Tdpoz8 A G 3: 92,981,780 (GRCm39) Y192C probably damaging Het
Trim6 G A 7: 103,874,853 (GRCm39) C30Y probably damaging Het
Trim65 T A 11: 116,017,143 (GRCm39) N440Y probably damaging Het
Ttn A C 2: 76,573,694 (GRCm39) I25733S probably damaging Het
Ttn T G 2: 76,619,358 (GRCm39) T16035P probably damaging Het
Vmn2r73 A T 7: 85,507,668 (GRCm39) M548K probably damaging Het
Vmn2r88 A T 14: 51,651,523 (GRCm39) E279V Het
Wfdc8 G A 2: 164,447,769 (GRCm39) S97F probably benign Het
Wrn G A 8: 33,826,041 (GRCm39) A207V probably null Het
Xrcc2 T C 5: 25,897,217 (GRCm39) D244G possibly damaging Het
Zfp251 C T 15: 76,737,413 (GRCm39) G560E 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
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
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'- ATGTTAGCGAGCTAGATCTGGAC -3'
(R):5'- GCCGTGGCTATTGATAAAGAGC -3'

Sequencing Primer
(F):5'- CGAGCTAGATCTGGACCATATTG -3'
(R):5'- CGTGGCTATTGATAAAGAGCTCAGG -3'
Posted On 2021-04-30