Incidental Mutation 'R2192:Chd4'
ID 238202
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 040194-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2192 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 125073144-125107554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125082320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 603 (M603K)
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: M616K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870
AA Change: M616K

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: M623K

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870
AA Change: M623K

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 probably damaging
Transcript: ENSMUST00000112392
AA Change: M603K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870
AA Change: M603K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,403,289 (GRCm39) M267K probably damaging Het
Aen T C 7: 78,555,793 (GRCm39) probably null Het
Ano2 A G 6: 125,992,502 (GRCm39) D825G probably damaging Het
Bdh2 T C 3: 135,001,025 (GRCm39) S142P probably damaging Het
Celsr1 A G 15: 85,800,924 (GRCm39) L2507P possibly damaging Het
Ces3a T C 8: 105,782,212 (GRCm39) F308S probably benign Het
Cfap47 C T X: 78,454,218 (GRCm39) R1646Q probably damaging Het
Cit T C 5: 116,106,068 (GRCm39) V984A probably benign Het
Clstn3 A T 6: 124,436,166 (GRCm39) D194E probably damaging Het
Ctdp1 T C 18: 80,492,696 (GRCm39) R600G probably benign Het
Ctnnd1 C T 2: 84,439,907 (GRCm39) G801D probably damaging Het
Dgkg A G 16: 22,407,049 (GRCm39) F179L probably damaging Het
Dlg3 G A X: 99,817,827 (GRCm39) D379N probably damaging Het
Drd2 G T 9: 49,314,571 (GRCm39) R267S probably benign Het
Dsg1b T C 18: 20,542,675 (GRCm39) *1061Q probably null Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Edc3 T C 9: 57,620,826 (GRCm39) V49A probably damaging Het
Ern1 G A 11: 106,300,750 (GRCm39) T548I probably benign Het
Fam186a T C 15: 99,838,192 (GRCm39) D2684G possibly damaging Het
Fam20a A G 11: 109,565,449 (GRCm39) M454T probably benign Het
Fbp2 A G 13: 63,006,056 (GRCm39) M19T possibly damaging Het
Frmd4b A T 6: 97,464,577 (GRCm39) C47S probably damaging Het
Gtf2h1 T A 7: 46,464,747 (GRCm39) I388N possibly damaging Het
Hectd4 T C 5: 121,453,206 (GRCm39) V571A possibly damaging Het
Helz2 T A 2: 180,870,841 (GRCm39) K2832* probably null Het
Herc1 T A 9: 66,372,688 (GRCm39) D3081E probably damaging Het
Hmcn1 A T 1: 150,591,566 (GRCm39) S1878T probably damaging Het
Iars1 A G 13: 49,841,605 (GRCm39) probably null Het
Il17rd A T 14: 26,816,835 (GRCm39) K180M probably damaging Het
Ints6l T A X: 55,550,110 (GRCm39) H678Q probably benign Het
Khdrbs1 A G 4: 129,613,830 (GRCm39) probably null Het
Lce3a A C 3: 92,832,837 (GRCm39) S88A unknown Het
Lgals12 C T 19: 7,578,606 (GRCm39) probably null Het
Lnpk T C 2: 74,399,373 (GRCm39) T57A probably benign Het
Lrp2bp C T 8: 46,466,206 (GRCm39) T105I probably benign Het
Lrrc4c C G 2: 97,459,657 (GRCm39) N94K possibly damaging Het
Mag A T 7: 30,600,066 (GRCm39) Y571* probably null Het
Mbd1 T A 18: 74,410,449 (GRCm39) D583E probably damaging Het
Mill1 T A 7: 17,998,544 (GRCm39) Y251* probably null Het
Mllt10 T C 2: 18,211,871 (GRCm39) I928T probably benign Het
Ms4a18 T C 19: 10,991,029 (GRCm39) T22A probably benign Het
Mtmr14 T C 6: 113,257,700 (GRCm39) F250L probably damaging Het
Mtmr3 A T 11: 4,449,032 (GRCm39) W244R probably damaging Het
Myorg A G 4: 41,497,704 (GRCm39) I642T probably damaging Het
Nat10 C A 2: 103,556,522 (GRCm39) E885D probably benign Het
Nbeal1 T A 1: 60,321,054 (GRCm39) L2055H probably damaging Het
Necab3 T A 2: 154,388,999 (GRCm39) I192F possibly damaging Het
Nedd4 T A 9: 72,650,000 (GRCm39) N783K probably damaging Het
Nf2 A T 11: 4,749,899 (GRCm39) W61R probably damaging Het
Nox4 T A 7: 87,023,588 (GRCm39) F491L probably benign Het
Omt2b G A 9: 78,235,457 (GRCm39) probably benign Het
Or4c125 A T 2: 89,170,009 (GRCm39) Y212* probably null Het
Or4c127 T A 2: 89,832,774 (GRCm39) I8N probably damaging Het
Or8i2 A G 2: 86,852,855 (GRCm39) V11A probably benign Het
Osbpl5 A T 7: 143,247,596 (GRCm39) Y723* probably null Het
Otop2 T C 11: 115,217,757 (GRCm39) S198P possibly damaging Het
Pgam5 T G 5: 110,413,785 (GRCm39) H126P probably damaging Het
Phip A T 9: 82,753,868 (GRCm39) N1625K probably damaging Het
Phospho2 T A 2: 69,626,451 (GRCm39) Y202* probably null Het
Pkd1l3 T A 8: 110,347,156 (GRCm39) H176Q unknown Het
Plxdc2 A G 2: 16,570,147 (GRCm39) R109G probably damaging Het
Prorsd1 T C 11: 29,463,592 (GRCm39) K57E probably benign Het
Rnf150 A T 8: 83,591,020 (GRCm39) R128W probably damaging Het
Samm50 G A 15: 84,084,625 (GRCm39) probably null Het
Skint6 A T 4: 112,722,909 (GRCm39) Y889* probably null Het
Slc35b1 T C 11: 95,276,640 (GRCm39) Y40H probably damaging Het
Speg A G 1: 75,394,371 (GRCm39) H1722R probably damaging Het
Suz12 T C 11: 79,913,024 (GRCm39) L356P probably damaging Het
Tln2 T G 9: 67,262,503 (GRCm39) I585L probably damaging Het
Trim2 G A 3: 84,098,225 (GRCm39) Q359* probably null Het
Ttc28 T C 5: 111,371,362 (GRCm39) Y635H probably damaging Het
Ttn C T 2: 76,543,549 (GRCm39) E33146K probably damaging Het
Vcp G T 4: 42,982,547 (GRCm39) T715K probably benign Het
Vmn1r230 T A 17: 21,067,355 (GRCm39) N181K probably benign Het
Vmn2r17 T A 5: 109,582,144 (GRCm39) M511K possibly damaging Het
Wdfy3 C T 5: 102,055,408 (GRCm39) R1554Q possibly damaging Het
Zfp112 A T 7: 23,824,863 (GRCm39) Q277L probably damaging Het
Zfp850 T C 7: 27,684,620 (GRCm39) E42G probably damaging Het
Zfp976 G A 7: 42,262,695 (GRCm39) P381S probably damaging Het
Zzef1 A T 11: 72,800,982 (GRCm39) probably null 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
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
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'- CTGTCAGGTGATGTTCAGAAAC -3'
(R):5'- ACGTGGTACCTAACAGGGAG -3'

Sequencing Primer
(F):5'- TCAGGTGATGTTCAGAAACTACCAGC -3'
(R):5'- GCAGACGTGGTACCTAACAG -3'
Posted On 2014-10-02