Incidental Mutation 'R7081:Chd4'
ID 549527
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 045175-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 125073144-125107554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125106948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1911 (V1911A)
Ref Sequence ENSEMBL: ENSMUSP00000060054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044200] [ENSMUST00000056889] [ENSMUST00000112390] [ENSMUST00000112392] [ENSMUST00000204185]
AlphaFold Q6PDQ2
Predicted Effect probably benign
Transcript: ENSMUST00000044200
SMART Domains Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 97 109 N/A INTRINSIC
low complexity region 166 176 N/A INTRINSIC
Pfam:Methyltr_RsmF_N 268 359 2.9e-12 PFAM
Pfam:Nol1_Nop2_Fmu 362 570 2e-86 PFAM
Pfam:P120R 609 630 2.7e-11 PFAM
Pfam:P120R 663 685 1.1e-12 PFAM
low complexity region 729 745 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000056889
AA Change: V1911A
SMART Domains Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870
AA Change: V1911A

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 unknown
Transcript: ENSMUST00000112390
AA Change: V1918A
SMART Domains Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870
AA Change: V1918A

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 unknown
Transcript: ENSMUST00000112392
AA Change: V1898A
SMART Domains Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870
AA Change: V1898A

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: ENSMUST00000204185
SMART Domains Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 97 109 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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
Aatf T A 11: 84,361,951 (GRCm39) H337L possibly damaging Het
Abcb4 T A 5: 8,984,263 (GRCm39) N664K probably benign Het
Adh7 A G 3: 137,934,606 (GRCm39) D343G probably benign Het
Als2cl G A 9: 110,723,650 (GRCm39) R682Q possibly damaging Het
Angptl6 A C 9: 20,786,644 (GRCm39) I334R probably damaging Het
Ankrd45 A G 1: 160,978,863 (GRCm39) N101D probably benign Het
Arhgef10 C T 8: 15,047,547 (GRCm39) Q1137* probably null Het
Asap3 T A 4: 135,968,881 (GRCm39) probably null Het
Bmp2k T C 5: 97,212,820 (GRCm39) S568P unknown Het
C4b A C 17: 34,954,417 (GRCm39) F917L probably benign Het
Cacna1e A T 1: 154,576,129 (GRCm39) V168E possibly damaging Het
Ccdc60 T A 5: 116,264,146 (GRCm39) I543F probably benign Het
Cd36 T C 5: 18,019,702 (GRCm39) D133G probably damaging Het
Cplx4 A T 18: 66,100,538 (GRCm39) probably null Het
Cyp1a2 A T 9: 57,586,272 (GRCm39) D415E possibly damaging Het
Cyp3a57 T C 5: 145,318,183 (GRCm39) I388T probably damaging Het
Dnajc5b T C 3: 19,601,025 (GRCm39) probably null Het
Dock4 A T 12: 40,671,285 (GRCm39) I35F probably damaging Het
Efna4 A T 3: 89,241,601 (GRCm39) L206Q unknown Het
Eif2a T C 3: 58,449,139 (GRCm39) probably null Het
Fam120a A G 13: 49,063,801 (GRCm39) F612L probably damaging Het
Fbxw21 A G 9: 108,990,990 (GRCm39) L23P probably damaging Het
Fcamr A T 1: 130,740,949 (GRCm39) E456V probably damaging Het
Fkbp8 G A 8: 70,983,644 (GRCm39) R106H probably benign Het
Galr2 T A 11: 116,173,874 (GRCm39) L168Q probably damaging Het
Gm11111 C T 5: 98,701,399 (GRCm39) S22L unknown Het
Gnpat T C 8: 125,590,008 (GRCm39) F11S possibly damaging Het
H2-T24 A T 17: 36,328,344 (GRCm39) D46E probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Ifna12 T C 4: 88,521,440 (GRCm39) R36G probably damaging Het
Kcnma1 G A 14: 23,350,086 (GRCm39) P1151L probably damaging Het
Kif5c T A 2: 49,631,373 (GRCm39) D683E probably benign Het
Krit1 T C 5: 3,873,651 (GRCm39) Y477H possibly damaging Het
Lipm T A 19: 34,098,723 (GRCm39) V399D possibly damaging Het
Lrguk A T 6: 34,079,074 (GRCm39) T770S probably benign Het
Lrrc37a T C 11: 103,348,781 (GRCm39) N2638S unknown Het
Lrrc40 T C 3: 157,742,442 (GRCm39) V27A probably damaging Het
Map4k1 T C 7: 28,690,574 (GRCm39) V355A probably benign Het
Mylk3 T C 8: 86,091,422 (GRCm39) I128V probably benign Het
Myo1c A G 11: 75,551,789 (GRCm39) D289G probably benign Het
Mypn A G 10: 62,970,737 (GRCm39) F889S probably damaging Het
Ndufv3 C T 17: 31,746,407 (GRCm39) P99L possibly damaging Het
Nlrp10 A C 7: 108,523,855 (GRCm39) S542A probably benign Het
Noc2l T A 4: 156,331,477 (GRCm39) D718E possibly damaging Het
Ntng1 T A 3: 109,759,105 (GRCm39) I355F probably benign Het
Nup210 A G 6: 91,037,647 (GRCm39) V742A possibly damaging Het
Nup50l A G 6: 96,142,798 (GRCm39) V82A possibly damaging Het
Olig2 T A 16: 91,023,307 (GRCm39) L7Q probably damaging Het
Or51f23b A T 7: 102,402,395 (GRCm39) I247N probably benign Het
Or8u10 A T 2: 85,915,939 (GRCm39) F61I probably damaging Het
Parpbp A T 10: 87,929,517 (GRCm39) W444R probably damaging Het
Plekhg3 A G 12: 76,625,019 (GRCm39) E1287G probably benign Het
Pramel16 T C 4: 143,675,848 (GRCm39) D326G probably damaging Het
Pramel56 T A 5: 95,022,641 (GRCm39) N107K possibly damaging Het
Prrc2b A T 2: 32,103,075 (GRCm39) Q851L probably benign Het
Psg21 C T 7: 18,388,774 (GRCm39) W106* probably null Het
Rab18 T G 18: 6,778,529 (GRCm39) D53E probably benign Het
Rbm19 T A 5: 120,261,216 (GRCm39) probably null Het
Rhobtb1 T C 10: 69,102,127 (GRCm39) V136A probably benign Het
Rsph4a G A 10: 33,785,189 (GRCm39) V367I probably damaging Het
Sec24b T C 3: 129,781,391 (GRCm39) N1161S probably benign Het
Sgcd C A 11: 47,016,428 (GRCm39) G145* probably null Het
Sin3a A G 9: 57,001,755 (GRCm39) K134R probably null Het
Slc9b2 A G 3: 135,027,698 (GRCm39) E108G probably benign Het
Stk24 A T 14: 121,531,706 (GRCm39) S317T probably benign Het
Stra8 T A 6: 34,911,302 (GRCm39) probably null Het
Tmem131 A G 1: 36,928,376 (GRCm39) V71A possibly damaging Het
Tmem87a T C 2: 120,211,264 (GRCm39) D227G possibly damaging Het
Vnn1 T A 10: 23,770,903 (GRCm39) L44M possibly damaging Het
Wdr20 G A 12: 110,769,884 (GRCm39) V160I possibly damaging Het
Zfand4 T A 6: 116,292,581 (GRCm39) N667K possibly damaging Het
Zfp1005 A G 2: 150,110,189 (GRCm39) H293R possibly damaging Het
Zfp609 A G 9: 65,609,723 (GRCm39) V1080A possibly damaging Het
Zhx1 C T 15: 57,917,734 (GRCm39) V171I probably benign 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
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'- TGTGCCCTTGACTACCACAG -3'
(R):5'- TTGTCTCTCCAGCAGGAAGG -3'

Sequencing Primer
(F):5'- TTGACTACCACAGCTCACGG -3'
(R):5'- TCCAGCAGGAAGGGCACC -3'
Posted On 2019-05-15