Incidental Mutation 'R0379:Chd5'
ID 30854
Institutional Source Beutler Lab
Gene Symbol Chd5
Ensembl Gene ENSMUSG00000005045
Gene Name chromodomain helicase DNA binding protein 5
Synonyms B230399N07Rik, 4930532L22Rik
MMRRC Submission 038585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0379 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 152423108-152474651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152467778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1692 (K1692R)
Ref Sequence ENSEMBL: ENSMUSP00000132600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005175] [ENSMUST00000030775] [ENSMUST00000164662]
AlphaFold A2A8L1
Predicted Effect probably benign
Transcript: ENSMUST00000005175
AA Change: K1729R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: K1729R

DomainStartEndE-ValueType
low complexity region 17 40 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
coiled coil region 96 126 N/A INTRINSIC
Pfam:CHDNT 149 203 2e-32 PFAM
low complexity region 209 220 N/A INTRINSIC
low complexity region 256 273 N/A INTRINSIC
low complexity region 291 304 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
PHD 347 390 1.09e-14 SMART
RING 348 389 4.48e-1 SMART
low complexity region 400 416 N/A INTRINSIC
PHD 420 463 3.29e-14 SMART
RING 421 462 4.15e0 SMART
CHROMO 468 548 2.52e-13 SMART
CHROMO 592 649 1.34e-8 SMART
low complexity region 657 678 N/A INTRINSIC
DEXDc 698 910 8.34e-33 SMART
low complexity region 1023 1038 N/A INTRINSIC
HELICc 1056 1140 4.02e-26 SMART
DUF1087 1297 1361 2.78e-33 SMART
DUF1086 1374 1533 5.11e-105 SMART
low complexity region 1552 1567 N/A INTRINSIC
low complexity region 1685 1701 N/A INTRINSIC
Pfam:CHDCT2 1729 1901 1.7e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030775
AA Change: K1729R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: K1729R

DomainStartEndE-ValueType
low complexity region 17 40 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
coiled coil region 96 126 N/A INTRINSIC
Pfam:CHDNT 150 203 9e-28 PFAM
low complexity region 209 220 N/A INTRINSIC
low complexity region 256 273 N/A INTRINSIC
low complexity region 291 304 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
PHD 347 390 1.09e-14 SMART
RING 348 389 4.48e-1 SMART
low complexity region 400 416 N/A INTRINSIC
PHD 420 463 3.29e-14 SMART
RING 421 462 4.15e0 SMART
CHROMO 468 548 2.52e-13 SMART
CHROMO 592 649 1.34e-8 SMART
low complexity region 657 678 N/A INTRINSIC
DEXDc 698 910 8.34e-33 SMART
low complexity region 1023 1038 N/A INTRINSIC
HELICc 1056 1140 4.02e-26 SMART
DUF1087 1297 1361 2.78e-33 SMART
DUF1086 1374 1533 5.11e-105 SMART
low complexity region 1552 1567 N/A INTRINSIC
low complexity region 1685 1701 N/A INTRINSIC
Pfam:CHDCT2 1730 1901 2.8e-93 PFAM
low complexity region 1922 1936 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124423
Predicted Effect probably benign
Transcript: ENSMUST00000164662
AA Change: K1692R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: K1692R

DomainStartEndE-ValueType
low complexity region 17 40 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
coiled coil region 96 126 N/A INTRINSIC
Pfam:CHDNT 149 203 1.9e-32 PFAM
low complexity region 209 220 N/A INTRINSIC
low complexity region 256 273 N/A INTRINSIC
low complexity region 291 304 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
PHD 347 390 1.09e-14 SMART
RING 348 389 4.48e-1 SMART
low complexity region 400 416 N/A INTRINSIC
PHD 420 463 3.29e-14 SMART
RING 421 462 4.15e0 SMART
CHROMO 468 548 2.52e-13 SMART
CHROMO 592 649 1.34e-8 SMART
low complexity region 657 678 N/A INTRINSIC
DEXDc 698 910 8.34e-33 SMART
low complexity region 1023 1038 N/A INTRINSIC
HELICc 1056 1140 4.02e-26 SMART
DUF1087 1260 1324 2.78e-33 SMART
DUF1086 1337 1496 5.11e-105 SMART
low complexity region 1515 1530 N/A INTRINSIC
low complexity region 1648 1664 N/A INTRINSIC
Pfam:CHDCT2 1692 1864 1.7e-99 PFAM
low complexity region 1885 1899 N/A INTRINSIC
Meta Mutation Damage Score 0.0841 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A G 11: 11,539,365 (GRCm39) probably benign Het
Apba1 A C 19: 23,912,194 (GRCm39) N558T probably damaging Het
Arfgef2 T A 2: 166,702,320 (GRCm39) probably null Het
Arsb T C 13: 94,077,135 (GRCm39) S501P probably benign Het
Atp10b A G 11: 43,145,141 (GRCm39) T1295A probably benign Het
Atp8b5 G T 4: 43,361,898 (GRCm39) R648L probably damaging Het
Bcl2a1b T C 9: 89,081,789 (GRCm39) I126T possibly damaging Het
Brd9 T C 13: 74,090,802 (GRCm39) probably benign Het
Cd93 T C 2: 148,283,430 (GRCm39) probably benign Het
Clcn4 T C 7: 7,299,791 (GRCm39) T13A probably damaging Het
Clec14a A G 12: 58,315,580 (GRCm39) F14S possibly damaging Het
Clec4g A G 8: 3,768,440 (GRCm39) V97A probably benign Het
Col24a1 G A 3: 145,229,897 (GRCm39) R1483K possibly damaging Het
Crem A T 18: 3,299,226 (GRCm39) V82D probably damaging Het
Ctnna2 T A 6: 77,618,423 (GRCm39) T180S probably benign Het
Cybrd1 T C 2: 70,960,099 (GRCm39) I99T probably benign Het
Cyp4a32 G A 4: 115,478,671 (GRCm39) V468M probably damaging Het
Dlk1 A G 12: 109,420,985 (GRCm39) probably benign Het
Dnaaf9 C T 2: 130,627,466 (GRCm39) probably benign Het
Dnah7b A T 1: 46,179,336 (GRCm39) Y1003F probably benign Het
Egfem1 A C 3: 29,722,399 (GRCm39) E376A possibly damaging Het
Etl4 T A 2: 20,812,165 (GRCm39) I1416K probably damaging Het
Fbxl4 A G 4: 22,386,106 (GRCm39) T238A probably benign Het
Fer1l6 A G 15: 58,420,187 (GRCm39) I33M probably benign Het
Fndc3a A G 14: 72,794,049 (GRCm39) S830P probably damaging Het
Fras1 C T 5: 96,903,368 (GRCm39) R3082* probably null Het
Galnt13 T C 2: 54,950,504 (GRCm39) V395A possibly damaging Het
Gpd2 C T 2: 57,235,275 (GRCm39) T335I probably damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hydin A G 8: 111,235,759 (GRCm39) probably benign Het
Ints5 G T 19: 8,874,497 (GRCm39) V819L possibly damaging Het
Klhdc10 C G 6: 30,450,669 (GRCm39) Q292E possibly damaging Het
Lmbrd2 G A 15: 9,149,566 (GRCm39) A67T probably benign Het
Lrp1 T G 10: 127,430,838 (GRCm39) T404P probably damaging Het
Marchf7 T C 2: 60,064,470 (GRCm39) S249P probably benign Het
Mcm10 T A 2: 5,013,434 (GRCm39) K66M probably benign Het
Mtmr7 C A 8: 41,004,642 (GRCm39) D645Y probably damaging Het
Muc6 T A 7: 141,216,868 (GRCm39) I2602F possibly damaging Het
Myh13 G A 11: 67,260,121 (GRCm39) probably benign Het
Myo18a G A 11: 77,741,632 (GRCm39) V1776I possibly damaging Het
Ncapg2 T C 12: 116,406,695 (GRCm39) L957S probably damaging Het
Ncoa3 T C 2: 165,896,422 (GRCm39) S442P probably damaging Het
Or5t5 G A 2: 86,616,079 (GRCm39) E2K probably benign Het
Or6x1 G A 9: 40,098,729 (GRCm39) G106D probably damaging Het
Or7g32 T A 9: 19,388,776 (GRCm39) T257S possibly damaging Het
Pdcd6 G T 13: 74,457,831 (GRCm39) N113K possibly damaging Het
Pfkfb4 C T 9: 108,856,810 (GRCm39) probably benign Het
Pfkm A G 15: 98,024,195 (GRCm39) H401R probably benign Het
Phldb2 C A 16: 45,601,814 (GRCm39) D754Y probably damaging Het
Plekhb2 T A 1: 34,902,195 (GRCm39) M49K probably damaging Het
Polrmt A G 10: 79,573,445 (GRCm39) S1057P possibly damaging Het
Prps1l1 A G 12: 35,035,077 (GRCm39) N64S probably benign Het
Prss3l T G 6: 41,422,190 (GRCm39) probably benign Het
Psg16 T C 7: 16,864,583 (GRCm39) S393P probably benign Het
Rundc1 C T 11: 101,315,973 (GRCm39) T15I probably benign Het
Scaf11 A G 15: 96,329,697 (GRCm39) L143S probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpinf1 T G 11: 75,304,771 (GRCm39) I197L probably benign Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Slc28a1 G A 7: 80,787,925 (GRCm39) V271I probably benign Het
Sntg1 T C 1: 8,853,048 (GRCm39) D34G probably damaging Het
Sptbn4 A T 7: 27,059,161 (GRCm39) probably benign Het
Suclg1 T C 6: 73,233,211 (GRCm39) I51T possibly damaging Het
Syne1 C T 10: 5,491,989 (GRCm39) R9Q probably damaging Het
Trim47 T A 11: 115,997,344 (GRCm39) H470L probably damaging Het
Ttc41 T A 10: 86,548,841 (GRCm39) Y12N possibly damaging Het
Tubgcp2 T C 7: 139,612,105 (GRCm39) E69G probably damaging Het
Tubgcp3 G A 8: 12,691,116 (GRCm39) T474M probably damaging Het
Ubr5 A T 15: 38,019,201 (GRCm39) N777K probably benign Het
Ush2a T C 1: 188,184,016 (GRCm39) L1440P probably damaging Het
Usp28 A C 9: 48,935,367 (GRCm39) D458A possibly damaging Het
Vcan A T 13: 89,851,665 (GRCm39) D1098E probably damaging Het
Vmn1r73 C T 7: 11,490,773 (GRCm39) T197I probably benign Het
Vmn2r15 T C 5: 109,434,344 (GRCm39) S787G probably damaging Het
Vmn2r90 T A 17: 17,948,401 (GRCm39) I549N probably damaging Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null Het
Zfp974 T A 7: 27,610,357 (GRCm39) N456I probably damaging Het
Other mutations in Chd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Chd5 APN 4 152,445,059 (GRCm39) missense probably damaging 1.00
IGL00886:Chd5 APN 4 152,444,156 (GRCm39) missense probably benign 0.00
IGL00963:Chd5 APN 4 152,467,395 (GRCm39) missense probably damaging 1.00
IGL01399:Chd5 APN 4 152,441,144 (GRCm39) missense probably damaging 1.00
IGL01571:Chd5 APN 4 152,468,572 (GRCm39) splice site probably benign
IGL01606:Chd5 APN 4 152,445,432 (GRCm39) missense probably damaging 0.99
IGL01636:Chd5 APN 4 152,469,110 (GRCm39) nonsense probably null
IGL02009:Chd5 APN 4 152,450,670 (GRCm39) missense probably damaging 1.00
IGL02417:Chd5 APN 4 152,451,751 (GRCm39) missense probably damaging 0.97
IGL02504:Chd5 APN 4 152,447,779 (GRCm39) missense probably damaging 0.99
IGL02508:Chd5 APN 4 152,447,481 (GRCm39) missense probably damaging 1.00
IGL02597:Chd5 APN 4 152,456,169 (GRCm39) missense probably damaging 1.00
IGL02608:Chd5 APN 4 152,440,564 (GRCm39) missense possibly damaging 0.94
IGL02612:Chd5 APN 4 152,445,033 (GRCm39) missense probably damaging 1.00
IGL02658:Chd5 APN 4 152,445,050 (GRCm39) missense probably damaging 1.00
IGL02662:Chd5 APN 4 152,456,588 (GRCm39) missense probably damaging 1.00
IGL02676:Chd5 APN 4 152,440,530 (GRCm39) splice site probably benign
IGL02871:Chd5 APN 4 152,461,142 (GRCm39) missense probably damaging 1.00
IGL02942:Chd5 APN 4 152,470,182 (GRCm39) missense probably damaging 0.98
IGL02956:Chd5 APN 4 152,464,413 (GRCm39) missense probably benign 0.00
IGL03286:Chd5 APN 4 152,469,952 (GRCm39) missense probably benign 0.00
IGL03348:Chd5 APN 4 152,461,142 (GRCm39) missense probably damaging 1.00
IGL03398:Chd5 APN 4 152,461,539 (GRCm39) missense probably damaging 0.97
PIT1430001:Chd5 UTSW 4 152,455,094 (GRCm39) missense probably damaging 1.00
PIT4151001:Chd5 UTSW 4 152,462,986 (GRCm39) missense probably damaging 0.99
R0079:Chd5 UTSW 4 152,470,206 (GRCm39) missense probably damaging 1.00
R0241:Chd5 UTSW 4 152,450,589 (GRCm39) missense probably damaging 1.00
R0241:Chd5 UTSW 4 152,450,589 (GRCm39) missense probably damaging 1.00
R0388:Chd5 UTSW 4 152,456,101 (GRCm39) missense probably damaging 1.00
R0675:Chd5 UTSW 4 152,470,407 (GRCm39) missense probably benign 0.06
R0730:Chd5 UTSW 4 152,432,441 (GRCm39) missense possibly damaging 0.72
R0799:Chd5 UTSW 4 152,468,616 (GRCm39) missense probably damaging 1.00
R0800:Chd5 UTSW 4 152,440,614 (GRCm39) missense probably damaging 1.00
R1276:Chd5 UTSW 4 152,463,191 (GRCm39) missense probably damaging 1.00
R1752:Chd5 UTSW 4 152,459,590 (GRCm39) missense probably damaging 1.00
R1753:Chd5 UTSW 4 152,463,272 (GRCm39) missense probably damaging 1.00
R1843:Chd5 UTSW 4 152,470,263 (GRCm39) missense probably damaging 1.00
R1850:Chd5 UTSW 4 152,454,990 (GRCm39) missense probably damaging 1.00
R1851:Chd5 UTSW 4 152,462,727 (GRCm39) missense probably damaging 0.97
R1859:Chd5 UTSW 4 152,464,980 (GRCm39) missense probably benign 0.00
R1983:Chd5 UTSW 4 152,469,123 (GRCm39) missense possibly damaging 0.89
R2404:Chd5 UTSW 4 152,451,791 (GRCm39) missense probably damaging 1.00
R2897:Chd5 UTSW 4 152,456,572 (GRCm39) missense probably damaging 1.00
R2898:Chd5 UTSW 4 152,456,572 (GRCm39) missense probably damaging 1.00
R3893:Chd5 UTSW 4 152,445,113 (GRCm39) missense probably damaging 1.00
R3938:Chd5 UTSW 4 152,461,512 (GRCm39) missense probably benign 0.05
R4707:Chd5 UTSW 4 152,445,039 (GRCm39) missense probably damaging 1.00
R4754:Chd5 UTSW 4 152,462,203 (GRCm39) missense probably damaging 0.99
R4911:Chd5 UTSW 4 152,445,129 (GRCm39) missense probably damaging 1.00
R4924:Chd5 UTSW 4 152,450,886 (GRCm39) missense possibly damaging 0.50
R4926:Chd5 UTSW 4 152,467,768 (GRCm39) missense probably benign 0.00
R5256:Chd5 UTSW 4 152,456,554 (GRCm39) missense probably benign 0.01
R5524:Chd5 UTSW 4 152,461,087 (GRCm39) missense probably benign
R5552:Chd5 UTSW 4 152,470,272 (GRCm39) missense possibly damaging 0.95
R5895:Chd5 UTSW 4 152,464,389 (GRCm39) missense probably benign 0.13
R5945:Chd5 UTSW 4 152,464,408 (GRCm39) missense probably benign
R6007:Chd5 UTSW 4 152,463,878 (GRCm39) missense probably null 1.00
R6039:Chd5 UTSW 4 152,438,078 (GRCm39) small deletion probably benign
R6039:Chd5 UTSW 4 152,438,078 (GRCm39) small deletion probably benign
R6172:Chd5 UTSW 4 152,463,848 (GRCm39) missense probably damaging 1.00
R6173:Chd5 UTSW 4 152,463,848 (GRCm39) missense probably damaging 1.00
R6323:Chd5 UTSW 4 152,451,791 (GRCm39) missense probably damaging 0.99
R6331:Chd5 UTSW 4 152,466,865 (GRCm39) missense probably benign 0.02
R6495:Chd5 UTSW 4 152,451,829 (GRCm39) missense probably damaging 1.00
R6528:Chd5 UTSW 4 152,441,133 (GRCm39) missense probably damaging 1.00
R6849:Chd5 UTSW 4 152,462,995 (GRCm39) missense probably damaging 1.00
R6854:Chd5 UTSW 4 152,467,395 (GRCm39) missense probably damaging 1.00
R6859:Chd5 UTSW 4 152,462,664 (GRCm39) missense probably damaging 1.00
R6999:Chd5 UTSW 4 152,458,891 (GRCm39) missense probably damaging 1.00
R7034:Chd5 UTSW 4 152,445,398 (GRCm39) missense possibly damaging 0.89
R7110:Chd5 UTSW 4 152,469,896 (GRCm39) missense probably damaging 1.00
R7361:Chd5 UTSW 4 152,447,745 (GRCm39) missense probably damaging 0.99
R7397:Chd5 UTSW 4 152,452,469 (GRCm39) missense possibly damaging 0.82
R7440:Chd5 UTSW 4 152,469,108 (GRCm39) missense probably benign 0.01
R7489:Chd5 UTSW 4 152,457,925 (GRCm39) missense probably damaging 1.00
R7810:Chd5 UTSW 4 152,443,032 (GRCm39) missense probably damaging 0.97
R8057:Chd5 UTSW 4 152,450,829 (GRCm39) missense probably damaging 1.00
R8078:Chd5 UTSW 4 152,445,448 (GRCm39) missense possibly damaging 0.90
R8092:Chd5 UTSW 4 152,463,261 (GRCm39) missense probably damaging 0.99
R8170:Chd5 UTSW 4 152,461,040 (GRCm39) missense probably benign 0.26
R8255:Chd5 UTSW 4 152,463,880 (GRCm39) missense probably damaging 0.99
R8348:Chd5 UTSW 4 152,445,173 (GRCm39) missense probably damaging 0.98
R8448:Chd5 UTSW 4 152,445,173 (GRCm39) missense probably damaging 0.98
R8478:Chd5 UTSW 4 152,441,147 (GRCm39) nonsense probably null
R8482:Chd5 UTSW 4 152,441,147 (GRCm39) nonsense probably null
R8670:Chd5 UTSW 4 152,469,953 (GRCm39) missense possibly damaging 0.81
R8733:Chd5 UTSW 4 152,463,923 (GRCm39) missense probably damaging 1.00
R8743:Chd5 UTSW 4 152,450,862 (GRCm39) missense probably benign 0.03
R8941:Chd5 UTSW 4 152,463,305 (GRCm39) missense possibly damaging 0.82
R8961:Chd5 UTSW 4 152,467,489 (GRCm39) splice site probably benign
R9103:Chd5 UTSW 4 152,461,444 (GRCm39) missense possibly damaging 0.62
R9160:Chd5 UTSW 4 152,469,916 (GRCm39) missense probably damaging 0.99
R9221:Chd5 UTSW 4 152,456,122 (GRCm39) missense probably damaging 0.96
R9399:Chd5 UTSW 4 152,468,592 (GRCm39) missense probably benign 0.06
R9429:Chd5 UTSW 4 152,447,364 (GRCm39) missense probably damaging 0.99
R9635:Chd5 UTSW 4 152,461,079 (GRCm39) missense possibly damaging 0.87
R9783:Chd5 UTSW 4 152,458,865 (GRCm39) missense probably damaging 1.00
Z1176:Chd5 UTSW 4 152,462,936 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAGATGGCGGTTTCACAGGTACAG -3'
(R):5'- AGGTTTTGGGCAGTCACCAGAAG -3'

Sequencing Primer
(F):5'- GATGGTCCATCGTATGCCC -3'
(R):5'- CAGTCACCAGAAGCTGGG -3'
Posted On 2013-04-24