Incidental Mutation 'IGL02612:Chd5'
ID 300524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chd5
Ensembl Gene ENSMUSG00000005045
Gene Name chromodomain helicase DNA binding protein 5
Synonyms B230399N07Rik, 4930532L22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02612
Quality Score
Status
Chromosome 4
Chromosomal Location 152423108-152474651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152445033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 338 (D338G)
Ref Sequence ENSEMBL: ENSMUSP00000132600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005175] [ENSMUST00000030775] [ENSMUST00000164662]
AlphaFold A2A8L1
Predicted Effect probably damaging
Transcript: ENSMUST00000005175
AA Change: D338G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: D338G

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 damaging
Transcript: ENSMUST00000030775
AA Change: D338G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: D338G

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 probably damaging
Transcript: ENSMUST00000164662
AA Change: D338G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: D338G

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,971 (GRCm39) M1432L probably benign Het
Alg11 A G 8: 22,551,999 (GRCm39) R48G probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Bmp4 T A 14: 46,621,938 (GRCm39) D202V probably damaging Het
Car12 T G 9: 66,669,706 (GRCm39) L300R probably damaging Het
Cdc37l1 T A 19: 28,993,502 (GRCm39) *336R probably null Het
Cep89 A G 7: 35,124,080 (GRCm39) probably null Het
Ces3b T A 8: 105,811,901 (GRCm39) D103E possibly damaging Het
Crot A G 5: 9,019,945 (GRCm39) C466R probably damaging Het
Dach2 T C X: 112,660,101 (GRCm39) M194T probably benign Het
Dmrtc1b A G X: 101,756,873 (GRCm39) D100G probably benign Het
Epm2a G A 10: 11,332,980 (GRCm39) R271H probably damaging Het
Fem1c G T 18: 46,638,781 (GRCm39) T407K probably benign Het
Fer1l4 T C 2: 155,889,848 (GRCm39) Y273C probably damaging Het
Foxc2 C A 8: 121,844,576 (GRCm39) A408E probably benign Het
Gbp10 A T 5: 105,366,368 (GRCm39) M512K possibly damaging Het
Gm5134 T C 10: 75,828,323 (GRCm39) L301P probably damaging Het
Grk3 A T 5: 113,117,100 (GRCm39) D100E probably benign Het
Gsdma3 T A 11: 98,526,707 (GRCm39) D322E probably damaging Het
Gucy1a2 C A 9: 3,894,556 (GRCm39) L680I possibly damaging Het
Ighv7-2 T C 12: 113,875,766 (GRCm39) Y79C probably damaging Het
Igkv4-50 T C 6: 69,678,024 (GRCm39) T27A probably benign Het
Ints2 T C 11: 86,106,404 (GRCm39) D1002G probably damaging Het
Map4k5 T A 12: 69,896,358 (GRCm39) I169F possibly damaging Het
Mink1 T C 11: 70,488,052 (GRCm39) V39A probably damaging Het
Mms22l T A 4: 24,508,482 (GRCm39) H301Q probably benign Het
Myh4 C T 11: 67,147,305 (GRCm39) T1650I probably benign Het
Or52n4 A T 7: 104,293,870 (GRCm39) D234E probably benign Het
Or8b37 T A 9: 37,958,662 (GRCm39) L48Q probably damaging Het
Or8b44 T C 9: 38,410,769 (GRCm39) M268T probably benign Het
Pate10 T C 9: 35,653,460 (GRCm39) I88T possibly damaging Het
Pbxip1 C T 3: 89,350,988 (GRCm39) T117M probably damaging Het
Pgghg C T 7: 140,526,251 (GRCm39) T572M probably damaging Het
Phactr2 G A 10: 13,121,167 (GRCm39) T511I probably damaging Het
Pip5k1a T C 3: 94,974,724 (GRCm39) I385V probably benign Het
Pwp2 A G 10: 78,018,828 (GRCm39) C60R probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rttn G T 18: 88,991,750 (GRCm39) D110Y probably damaging Het
Setbp1 G T 18: 78,798,925 (GRCm39) H1418Q probably damaging Het
Sf3b3 T C 8: 111,569,608 (GRCm39) I37V probably benign Het
Slc27a6 A T 18: 58,689,977 (GRCm39) I148F probably benign Het
Slmap A G 14: 26,180,621 (GRCm39) probably benign Het
Speer4a3 A C 5: 26,156,614 (GRCm39) Y122D probably benign Het
Stil A G 4: 114,880,893 (GRCm39) Q479R possibly damaging Het
Svop A G 5: 114,166,321 (GRCm39) *549Q probably null Het
Tnks C T 8: 35,316,453 (GRCm39) V889I possibly damaging Het
Tnrc6c T A 11: 117,633,826 (GRCm39) V1308E possibly damaging Het
Vmn1r208 C A 13: 22,956,993 (GRCm39) C168F probably damaging Het
Vmn2r117 A T 17: 23,678,758 (GRCm39) M822K possibly damaging Het
Vwa8 A G 14: 79,420,552 (GRCm39) N1751S probably benign Het
Vwde A T 6: 13,187,148 (GRCm39) F780I probably damaging Het
Washc2 T C 6: 116,197,577 (GRCm39) I184T possibly damaging Het
Wdr26 A T 1: 181,005,361 (GRCm39) probably benign Het
Zfp608 G A 18: 55,031,273 (GRCm39) T889M probably damaging Het
Zfp955a G T 17: 33,463,039 (GRCm39) Q31K probably damaging Het
Zpbp2 T C 11: 98,446,343 (GRCm39) L145S probably benign 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
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
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
Posted On 2015-04-16