Incidental Mutation 'R4119:Chd7'
ID 315221
Institutional Source Beutler Lab
Gene Symbol Chd7
Ensembl Gene ENSMUSG00000041235
Gene Name chromodomain helicase DNA binding protein 7
Synonyms Whi, Dz, Cyn, GENA 47, Cycn, Lda, Flo, Obt, Edy, A730019I05Rik, Todo, GENA 60, WBE1, Gena 52, Mt
MMRRC Submission 040992-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R4119 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 8690406-8867659 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 8785658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039267] [ENSMUST00000051558] [ENSMUST00000127476] [ENSMUST00000170391]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000039267
AA Change: E654G
SMART Domains Protein: ENSMUSP00000043903
Gene: ENSMUSG00000041235
AA Change: E654G

DomainStartEndE-ValueType
low complexity region 11 28 N/A INTRINSIC
low complexity region 48 59 N/A INTRINSIC
low complexity region 107 129 N/A INTRINSIC
low complexity region 152 178 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 385 400 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
low complexity region 512 535 N/A INTRINSIC
low complexity region 585 595 N/A INTRINSIC
low complexity region 632 696 N/A INTRINSIC
low complexity region 721 733 N/A INTRINSIC
low complexity region 735 748 N/A INTRINSIC
low complexity region 759 768 N/A INTRINSIC
CHROMO 789 854 2.54e-9 SMART
CHROMO 870 927 2.94e-5 SMART
low complexity region 928 939 N/A INTRINSIC
DEXDc 954 1155 9.64e-38 SMART
HELICc 1310 1394 1.67e-23 SMART
Blast:DEXDc 1608 1653 8e-16 BLAST
low complexity region 1728 1739 N/A INTRINSIC
internal_repeat_2 1774 1825 1.31e-5 PROSPERO
low complexity region 1831 1846 N/A INTRINSIC
low complexity region 1898 1906 N/A INTRINSIC
low complexity region 1929 1947 N/A INTRINSIC
SANT 1952 2011 9.31e-1 SMART
internal_repeat_2 2079 2126 1.31e-5 PROSPERO
low complexity region 2173 2195 N/A INTRINSIC
low complexity region 2218 2244 N/A INTRINSIC
low complexity region 2387 2407 N/A INTRINSIC
low complexity region 2437 2452 N/A INTRINSIC
BRK 2553 2602 6.57e-23 SMART
BRK 2631 2675 3.77e-23 SMART
low complexity region 2715 2725 N/A INTRINSIC
low complexity region 2746 2758 N/A INTRINSIC
low complexity region 2769 2778 N/A INTRINSIC
low complexity region 2785 2796 N/A INTRINSIC
low complexity region 2810 2821 N/A INTRINSIC
low complexity region 2897 2916 N/A INTRINSIC
low complexity region 2967 2980 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000051558
AA Change: E654G
SMART Domains Protein: ENSMUSP00000059079
Gene: ENSMUSG00000041235
AA Change: E654G

DomainStartEndE-ValueType
low complexity region 11 28 N/A INTRINSIC
low complexity region 48 59 N/A INTRINSIC
low complexity region 107 129 N/A INTRINSIC
low complexity region 152 178 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 385 400 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
low complexity region 512 535 N/A INTRINSIC
low complexity region 585 595 N/A INTRINSIC
low complexity region 632 696 N/A INTRINSIC
low complexity region 721 733 N/A INTRINSIC
low complexity region 735 748 N/A INTRINSIC
low complexity region 759 768 N/A INTRINSIC
CHROMO 789 854 2.54e-9 SMART
CHROMO 870 927 2.94e-5 SMART
low complexity region 928 939 N/A INTRINSIC
DEXDc 954 1155 9.64e-38 SMART
HELICc 1310 1394 1.67e-23 SMART
Blast:DEXDc 1608 1653 8e-16 BLAST
low complexity region 1728 1739 N/A INTRINSIC
internal_repeat_2 1774 1825 1.31e-5 PROSPERO
low complexity region 1831 1846 N/A INTRINSIC
low complexity region 1898 1906 N/A INTRINSIC
low complexity region 1929 1947 N/A INTRINSIC
SANT 1952 2011 9.31e-1 SMART
internal_repeat_2 2079 2126 1.31e-5 PROSPERO
low complexity region 2173 2195 N/A INTRINSIC
low complexity region 2218 2244 N/A INTRINSIC
low complexity region 2387 2407 N/A INTRINSIC
low complexity region 2437 2452 N/A INTRINSIC
BRK 2553 2602 6.57e-23 SMART
BRK 2631 2675 3.77e-23 SMART
low complexity region 2715 2725 N/A INTRINSIC
low complexity region 2746 2758 N/A INTRINSIC
low complexity region 2769 2778 N/A INTRINSIC
low complexity region 2785 2796 N/A INTRINSIC
low complexity region 2810 2821 N/A INTRINSIC
low complexity region 2897 2916 N/A INTRINSIC
low complexity region 2967 2980 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127476
SMART Domains Protein: ENSMUSP00000118711
Gene: ENSMUSG00000041235

DomainStartEndE-ValueType
low complexity region 11 28 N/A INTRINSIC
low complexity region 48 59 N/A INTRINSIC
low complexity region 107 129 N/A INTRINSIC
low complexity region 152 178 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 385 400 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
low complexity region 512 535 N/A INTRINSIC
low complexity region 585 595 N/A INTRINSIC
Blast:CHROMO 596 630 6e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000170391
SMART Domains Protein: ENSMUSP00000127007
Gene: ENSMUSG00000041235

DomainStartEndE-ValueType
low complexity region 11 28 N/A INTRINSIC
low complexity region 48 59 N/A INTRINSIC
low complexity region 107 129 N/A INTRINSIC
low complexity region 152 178 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 385 400 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
low complexity region 512 535 N/A INTRINSIC
BRK 586 630 3.77e-23 SMART
low complexity region 670 680 N/A INTRINSIC
low complexity region 701 713 N/A INTRINSIC
low complexity region 724 733 N/A INTRINSIC
low complexity region 740 751 N/A INTRINSIC
low complexity region 765 776 N/A INTRINSIC
low complexity region 852 871 N/A INTRINSIC
low complexity region 922 935 N/A INTRINSIC
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: This gene encodes a protein containing two chromodomains and an ATP-binding helicase domain that functions as a regulator of transcription. Mutations in this gene result in an array of development defects, including inner ear problems. Mice defective for this gene exhibit many of the clinical features of the CHARGE syndrome caused by mutations in the homologous gene in human. [provided by RefSeq, Sep 2015]
PHENOTYPE: Heterozygotes for mutations of this gene exhibit a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, and tail-kink. [provided by MGI curators]
Allele List at MGI

All alleles(32) : Targeted, other(4) Gene trapped(19) Chemically induced(9)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,863 (GRCm39) L39P probably damaging Het
Abcc1 A G 16: 14,211,877 (GRCm39) M138V probably benign Het
Abl1 T A 2: 31,691,739 (GRCm39) I1067N probably damaging Het
Adam6a C T 12: 113,508,194 (GRCm39) T189I probably benign Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aplnr T C 2: 84,967,310 (GRCm39) Y112H possibly damaging Het
Arhgap17 A G 7: 122,906,217 (GRCm39) F313S probably damaging Het
Arid1b T C 17: 5,046,069 (GRCm39) probably benign Het
Bcas1 G C 2: 170,220,735 (GRCm39) P394A probably benign Het
Ccdc116 A G 16: 16,960,051 (GRCm39) S213P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Cenpf A G 1: 189,385,242 (GRCm39) I2346T probably benign Het
Ezh2 A C 6: 47,521,482 (GRCm39) N390K probably benign Het
Fbxo7 C A 10: 85,857,759 (GRCm39) probably benign Het
Fibin A G 2: 110,193,035 (GRCm39) Y36H probably damaging Het
Gpr37 C T 6: 25,688,425 (GRCm39) R224H possibly damaging Het
Hars2 A T 18: 36,923,541 (GRCm39) N363I probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Itpr1 G A 6: 108,371,316 (GRCm39) D1140N probably benign Het
Lrig2 A G 3: 104,374,511 (GRCm39) V190A probably benign Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Morc2a C A 11: 3,633,868 (GRCm39) T660N probably benign Het
Msh3 A G 13: 92,490,519 (GRCm39) probably benign Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nbeal1 A T 1: 60,331,029 (GRCm39) I2213L probably damaging Het
Or10ag57 T A 2: 87,218,187 (GRCm39) M46K possibly damaging Het
Or5d16 A G 2: 87,773,787 (GRCm39) Y62H probably damaging Het
P2ry12 T C 3: 59,125,262 (GRCm39) T138A probably benign Het
Pirb T C 7: 3,720,574 (GRCm39) D308G probably damaging Het
Pkn3 A G 2: 29,973,049 (GRCm39) probably benign Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Ryr2 T C 13: 11,794,153 (GRCm39) T942A probably benign Het
Spata31e5 A T 1: 28,817,054 (GRCm39) V326D probably damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Synpo2 T A 3: 122,910,799 (GRCm39) D282V probably damaging Het
Tnik T C 3: 28,720,324 (GRCm39) F1287L probably damaging Het
Tshz1 T G 18: 84,032,314 (GRCm39) K698T probably benign Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Urb2 T A 8: 124,773,979 (GRCm39) D1503E probably benign Het
Usp29 T A 7: 6,965,805 (GRCm39) N549K probably benign Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp24 A G 18: 24,147,626 (GRCm39) Y229H possibly damaging Het
Zfp472 T A 17: 33,197,189 (GRCm39) Y421* probably null Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G possibly damaging Het
Other mutations in Chd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Chd7 APN 4 8,859,106 (GRCm39) missense probably damaging 1.00
IGL00510:Chd7 APN 4 8,801,404 (GRCm39) missense probably damaging 1.00
IGL00741:Chd7 APN 4 8,839,454 (GRCm39) missense probably damaging 1.00
IGL00796:Chd7 APN 4 8,847,271 (GRCm39) missense possibly damaging 0.95
IGL00907:Chd7 APN 4 8,840,435 (GRCm39) missense probably damaging 0.98
IGL00930:Chd7 APN 4 8,805,181 (GRCm39) missense probably damaging 1.00
IGL01542:Chd7 APN 4 8,859,285 (GRCm39) missense possibly damaging 0.71
IGL01602:Chd7 APN 4 8,833,834 (GRCm39) missense probably damaging 1.00
IGL01605:Chd7 APN 4 8,833,834 (GRCm39) missense probably damaging 1.00
IGL01670:Chd7 APN 4 8,827,033 (GRCm39) missense probably damaging 0.98
IGL02434:Chd7 APN 4 8,752,145 (GRCm39) missense probably benign 0.00
IGL02531:Chd7 APN 4 8,854,134 (GRCm39) missense probably damaging 1.00
IGL02626:Chd7 APN 4 8,826,519 (GRCm39) missense probably damaging 1.00
IGL02961:Chd7 APN 4 8,751,542 (GRCm39) missense probably damaging 1.00
IGL02972:Chd7 APN 4 8,855,174 (GRCm39) missense probably benign 0.30
IGL03329:Chd7 APN 4 8,841,108 (GRCm39) missense probably damaging 1.00
Fili UTSW 4 8,839,523 (GRCm39) missense probably damaging 1.00
D4043:Chd7 UTSW 4 8,862,650 (GRCm39) missense probably damaging 1.00
IGL02991:Chd7 UTSW 4 8,828,398 (GRCm39) missense possibly damaging 0.91
PIT4466001:Chd7 UTSW 4 8,753,101 (GRCm39) missense unknown
PIT4472001:Chd7 UTSW 4 8,753,101 (GRCm39) missense unknown
R0157:Chd7 UTSW 4 8,833,759 (GRCm39) missense probably damaging 1.00
R0179:Chd7 UTSW 4 8,862,516 (GRCm39) missense probably benign 0.22
R0240:Chd7 UTSW 4 8,852,670 (GRCm39) unclassified probably benign
R0388:Chd7 UTSW 4 8,854,560 (GRCm39) missense probably benign 0.27
R0462:Chd7 UTSW 4 8,850,821 (GRCm39) missense probably damaging 1.00
R0512:Chd7 UTSW 4 8,805,139 (GRCm39) intron probably benign
R0657:Chd7 UTSW 4 8,753,141 (GRCm39) missense probably damaging 1.00
R0799:Chd7 UTSW 4 8,801,310 (GRCm39) intron probably benign
R0885:Chd7 UTSW 4 8,866,432 (GRCm39) missense probably damaging 1.00
R1056:Chd7 UTSW 4 8,822,402 (GRCm39) missense possibly damaging 0.50
R1086:Chd7 UTSW 4 8,866,458 (GRCm39) missense probably benign 0.04
R1353:Chd7 UTSW 4 8,839,556 (GRCm39) missense probably damaging 0.99
R1466:Chd7 UTSW 4 8,840,561 (GRCm39) splice site probably null
R1466:Chd7 UTSW 4 8,840,561 (GRCm39) splice site probably null
R1605:Chd7 UTSW 4 8,844,675 (GRCm39) missense probably damaging 1.00
R1693:Chd7 UTSW 4 8,864,307 (GRCm39) critical splice donor site probably null
R1695:Chd7 UTSW 4 8,833,960 (GRCm39) missense probably damaging 1.00
R1938:Chd7 UTSW 4 8,847,200 (GRCm39) missense probably damaging 1.00
R1964:Chd7 UTSW 4 8,865,978 (GRCm39) missense probably damaging 0.96
R2020:Chd7 UTSW 4 8,855,226 (GRCm39) missense probably benign 0.00
R2134:Chd7 UTSW 4 8,753,147 (GRCm39) missense probably damaging 0.99
R2171:Chd7 UTSW 4 8,752,424 (GRCm39) missense probably damaging 1.00
R2271:Chd7 UTSW 4 8,785,532 (GRCm39) missense probably damaging 1.00
R2300:Chd7 UTSW 4 8,855,241 (GRCm39) missense probably benign 0.02
R2355:Chd7 UTSW 4 8,801,350 (GRCm39) missense possibly damaging 0.95
R3153:Chd7 UTSW 4 8,855,174 (GRCm39) missense probably benign 0.30
R3430:Chd7 UTSW 4 8,844,517 (GRCm39) missense probably damaging 0.99
R3746:Chd7 UTSW 4 8,752,537 (GRCm39) missense probably damaging 1.00
R4118:Chd7 UTSW 4 8,865,831 (GRCm39) missense probably damaging 1.00
R4332:Chd7 UTSW 4 8,854,143 (GRCm39) missense probably damaging 1.00
R4402:Chd7 UTSW 4 8,866,353 (GRCm39) missense possibly damaging 0.61
R4571:Chd7 UTSW 4 8,866,217 (GRCm39) missense probably benign 0.09
R4722:Chd7 UTSW 4 8,822,445 (GRCm39) missense probably damaging 1.00
R4821:Chd7 UTSW 4 8,844,706 (GRCm39) missense probably damaging 1.00
R4894:Chd7 UTSW 4 8,838,629 (GRCm39) missense probably damaging 0.99
R5205:Chd7 UTSW 4 8,752,509 (GRCm39) missense possibly damaging 0.60
R5344:Chd7 UTSW 4 8,844,417 (GRCm39) missense probably damaging 1.00
R5484:Chd7 UTSW 4 8,828,258 (GRCm39) missense probably damaging 1.00
R5578:Chd7 UTSW 4 8,847,149 (GRCm39) missense probably benign 0.09
R5583:Chd7 UTSW 4 8,752,473 (GRCm39) missense probably damaging 1.00
R5888:Chd7 UTSW 4 8,866,382 (GRCm39) missense probably damaging 0.98
R5905:Chd7 UTSW 4 8,840,553 (GRCm39) missense possibly damaging 0.91
R6091:Chd7 UTSW 4 8,751,875 (GRCm39) missense probably damaging 0.99
R6126:Chd7 UTSW 4 8,826,482 (GRCm39) missense probably damaging 1.00
R6399:Chd7 UTSW 4 8,828,274 (GRCm39) missense probably damaging 1.00
R6751:Chd7 UTSW 4 8,833,866 (GRCm39) missense probably damaging 1.00
R6810:Chd7 UTSW 4 8,839,523 (GRCm39) missense probably damaging 1.00
R6868:Chd7 UTSW 4 8,811,501 (GRCm39) splice site probably null
R6952:Chd7 UTSW 4 8,856,797 (GRCm39) missense probably damaging 1.00
R6986:Chd7 UTSW 4 8,859,285 (GRCm39) missense possibly damaging 0.71
R6990:Chd7 UTSW 4 8,844,525 (GRCm39) missense probably benign 0.28
R7139:Chd7 UTSW 4 8,865,865 (GRCm39) missense probably benign 0.00
R7288:Chd7 UTSW 4 8,847,093 (GRCm39) missense possibly damaging 0.92
R7355:Chd7 UTSW 4 8,752,196 (GRCm39) missense unknown
R7452:Chd7 UTSW 4 8,854,731 (GRCm39) missense probably benign 0.03
R7471:Chd7 UTSW 4 8,859,197 (GRCm39) missense probably damaging 0.96
R7588:Chd7 UTSW 4 8,864,039 (GRCm39) missense probably damaging 1.00
R7711:Chd7 UTSW 4 8,805,234 (GRCm39) missense probably benign 0.00
R7744:Chd7 UTSW 4 8,862,485 (GRCm39) splice site probably null
R7842:Chd7 UTSW 4 8,854,115 (GRCm39) missense probably benign 0.01
R7883:Chd7 UTSW 4 8,826,504 (GRCm39) missense probably damaging 1.00
R7934:Chd7 UTSW 4 8,854,121 (GRCm39) missense probably benign 0.00
R7983:Chd7 UTSW 4 8,844,609 (GRCm39) missense possibly damaging 0.47
R7983:Chd7 UTSW 4 8,752,628 (GRCm39) missense unknown
R8022:Chd7 UTSW 4 8,751,605 (GRCm39) missense unknown
R8161:Chd7 UTSW 4 8,855,038 (GRCm39) missense probably damaging 1.00
R8274:Chd7 UTSW 4 8,839,432 (GRCm39) missense probably damaging 1.00
R8278:Chd7 UTSW 4 8,862,485 (GRCm39) splice site probably null
R8358:Chd7 UTSW 4 8,839,529 (GRCm39) missense probably damaging 1.00
R8464:Chd7 UTSW 4 8,811,465 (GRCm39) missense probably benign 0.06
R8483:Chd7 UTSW 4 8,822,412 (GRCm39) missense possibly damaging 0.65
R8507:Chd7 UTSW 4 8,858,675 (GRCm39) missense probably damaging 1.00
R8535:Chd7 UTSW 4 8,859,211 (GRCm39) missense possibly damaging 0.92
R8695:Chd7 UTSW 4 8,850,812 (GRCm39) missense probably damaging 1.00
R8700:Chd7 UTSW 4 8,833,892 (GRCm39) missense probably damaging 1.00
R8755:Chd7 UTSW 4 8,866,069 (GRCm39) missense probably benign 0.31
R8774:Chd7 UTSW 4 8,854,692 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Chd7 UTSW 4 8,854,692 (GRCm39) missense probably damaging 1.00
R8796:Chd7 UTSW 4 8,838,691 (GRCm39) missense probably damaging 1.00
R8992:Chd7 UTSW 4 8,839,589 (GRCm39) missense probably damaging 1.00
R9018:Chd7 UTSW 4 8,847,083 (GRCm39) missense possibly damaging 0.88
R9122:Chd7 UTSW 4 8,840,510 (GRCm39) missense possibly damaging 0.77
R9131:Chd7 UTSW 4 8,785,642 (GRCm39) missense
R9182:Chd7 UTSW 4 8,838,737 (GRCm39) missense probably damaging 1.00
R9227:Chd7 UTSW 4 8,805,272 (GRCm39) missense probably benign 0.03
R9254:Chd7 UTSW 4 8,752,210 (GRCm39) missense unknown
R9379:Chd7 UTSW 4 8,752,210 (GRCm39) missense unknown
R9388:Chd7 UTSW 4 8,865,756 (GRCm39) missense possibly damaging 0.89
R9455:Chd7 UTSW 4 8,752,061 (GRCm39) missense unknown
R9531:Chd7 UTSW 4 8,858,489 (GRCm39) missense
R9577:Chd7 UTSW 4 8,752,964 (GRCm39) missense unknown
R9634:Chd7 UTSW 4 8,832,499 (GRCm39) missense probably damaging 1.00
Z1176:Chd7 UTSW 4 8,844,313 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTGCTGCAGGGGATTCCAG -3'
(R):5'- GCACTGTATGAGCCAAAGTTG -3'

Sequencing Primer
(F):5'- TGCTGCAGGGGATTCCAGTAAAG -3'
(R):5'- TGATCTAAAATACACAGGCACTCC -3'
Posted On 2015-05-14