Incidental Mutation 'R4926:Chd5'
ID 379017
Institutional Source Beutler Lab
Gene Symbol Chd5
Ensembl Gene ENSMUSG00000005045
Gene Name chromodomain helicase DNA binding protein 5
Synonyms B230399N07Rik, 4930532L22Rik
MMRRC Submission 042527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4926 (G1)
Quality Score 207
Status Validated
Chromosome 4
Chromosomal Location 152423108-152474651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152467768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1689 (S1689P)
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: S1726P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: S1726P

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: S1726P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: S1726P

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: S1689P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: S1689P

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 0.0780 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (87/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,272,498 (GRCm39) D136V probably damaging Het
Ankrd17 G A 5: 90,447,891 (GRCm39) R217W probably damaging Het
Ankrd23 A T 1: 36,571,068 (GRCm39) H102Q probably damaging Het
Arfip2 G T 7: 105,287,151 (GRCm39) R138S probably damaging Het
Arhgap27 A T 11: 103,229,949 (GRCm39) probably null Het
Atg2a T C 19: 6,307,563 (GRCm39) L1499P probably damaging Het
Bnc2 A G 4: 84,194,416 (GRCm39) S110P probably damaging Het
Ccdc171 T C 4: 83,476,829 (GRCm39) probably benign Het
Ccdc7a A G 8: 129,706,535 (GRCm39) probably benign Het
Corin A G 5: 72,529,525 (GRCm39) C212R probably damaging Het
Cyp2c65 A G 19: 39,049,597 (GRCm39) I42V probably benign Het
Cyp3a25 G A 5: 145,928,266 (GRCm39) R260C probably damaging Het
Dock6 T C 9: 21,757,087 (GRCm39) Y116C probably damaging Het
Eif3a A G 19: 60,751,656 (GRCm39) probably benign Het
Epop T C 11: 97,519,143 (GRCm39) D322G probably damaging Het
Eps8l3 T A 3: 107,798,004 (GRCm39) probably benign Het
Exph5 T C 9: 53,287,925 (GRCm39) S1669P possibly damaging Het
Faah A T 4: 115,856,823 (GRCm39) probably benign Het
Fanca A G 8: 124,030,724 (GRCm39) C453R probably benign Het
Fcgbp T A 7: 27,785,660 (GRCm39) C366S probably damaging Het
Fmn2 A G 1: 174,329,981 (GRCm39) T124A unknown Het
Foxi3 C T 6: 70,933,996 (GRCm39) S161L probably damaging Het
Foxo3 A T 10: 42,073,020 (GRCm39) V499E probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Gm839 A C 6: 89,189,581 (GRCm39) noncoding transcript Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
Hnrnpm G T 17: 33,868,775 (GRCm39) R551S probably damaging Het
Hspa1l A G 17: 35,197,199 (GRCm39) T413A possibly damaging Het
Hspg2 T C 4: 137,269,841 (GRCm39) Y2297H probably damaging Het
Ighv1-81 T A 12: 115,884,093 (GRCm39) I53L probably benign Het
Kcnj11 C T 7: 45,748,544 (GRCm39) V260I probably benign Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrrc41 T C 4: 115,946,521 (GRCm39) V412A possibly damaging Het
Map4k4 A T 1: 40,056,385 (GRCm39) E1023D probably damaging Het
Mark3 T A 12: 111,584,758 (GRCm39) L118* probably null Het
Mrgpra9 T A 7: 46,884,759 (GRCm39) T303S possibly damaging Het
Mterf4 T C 1: 93,232,647 (GRCm39) E68G probably benign Het
Nckap5 A C 1: 126,456,378 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,169 (GRCm39) T339S probably damaging Het
Nrip2 A C 6: 128,385,337 (GRCm39) H256P probably benign Het
Oas1d T C 5: 121,053,831 (GRCm39) V97A probably benign Het
Obox2 T A 7: 15,131,102 (GRCm39) probably null Het
Opa1 T C 16: 29,467,791 (GRCm39) F989S possibly damaging Het
Or10g9 T C 9: 39,912,319 (GRCm39) probably null Het
Padi1 T A 4: 140,552,158 (GRCm39) I429F probably damaging Het
Paics A G 5: 77,109,051 (GRCm39) D163G probably damaging Het
Pik3c2b G T 1: 133,027,364 (GRCm39) E1288* probably null Het
Prdm16 A T 4: 154,426,009 (GRCm39) V593D possibly damaging Het
Prpf39 A G 12: 65,090,830 (GRCm39) I165M possibly damaging Het
Pth2r A G 1: 65,361,143 (GRCm39) T26A probably benign Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Rab44 C T 17: 29,358,529 (GRCm39) A239V probably benign Het
Rtcb T C 10: 85,791,600 (GRCm39) N52S probably benign Het
Sapcd2 T A 2: 25,263,578 (GRCm39) probably null Het
Scaf11 T C 15: 96,316,123 (GRCm39) E1147G possibly damaging Het
Selenoo T C 15: 88,983,881 (GRCm39) Y595H probably damaging Het
Slc2a5 G T 4: 150,205,199 (GRCm39) E3* probably null Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sorbs2 A G 8: 46,249,254 (GRCm39) K755R probably benign Het
Sorbs3 G T 14: 70,424,394 (GRCm39) P513T probably damaging Het
Sowaha T A 11: 53,370,337 (GRCm39) E133V possibly damaging Het
Srsf5 T C 12: 80,994,075 (GRCm39) probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tcp11l1 T C 2: 104,512,130 (GRCm39) I501V probably benign Het
Tert A G 13: 73,796,508 (GRCm39) K1080E possibly damaging Het
Tescl T A 7: 24,033,323 (GRCm39) M1L possibly damaging Het
Thop1 T A 10: 80,909,201 (GRCm39) probably null Het
Tmtc4 T C 14: 123,210,618 (GRCm39) H80R probably damaging Het
Toe1 C T 4: 116,661,729 (GRCm39) S480N probably damaging Het
Trap1 C A 16: 3,863,352 (GRCm39) V557F probably benign Het
Trim30d T C 7: 104,132,564 (GRCm39) E91G probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttll8 C A 15: 88,798,368 (GRCm39) G789V probably damaging Het
Ulk4 A G 9: 121,087,798 (GRCm39) F298S probably benign Het
Wwc1 C T 11: 35,780,227 (GRCm39) A243T probably benign Het
Zfp248 A C 6: 118,406,787 (GRCm39) H267Q possibly damaging Het
Zfyve26 T A 12: 79,321,785 (GRCm39) M945L probably benign Het
Zup1 T C 10: 33,825,434 (GRCm39) D16G 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
R0379:Chd5 UTSW 4 152,467,778 (GRCm39) missense probably benign 0.00
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
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'- GATGATGGTCCATCGTATGCCC -3'
(R):5'- CCAGATGGCCAGATGACAAG -3'

Sequencing Primer
(F):5'- CCTCTTAGCAATACTGGAGCAATGG -3'
(R):5'- TTTTGGGCAGTCACCAGAAGC -3'
Posted On 2016-04-15