Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01670:Chd7'

103458

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL01670

Quality Score

Status

Chromosome

Chromosomal Location

8690406-8867659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8827033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1026 (R1026L)

Ref Sequence

ENSEMBL: ENSMUSP00000059079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039267] [ENSMUST00000051558] [ENSMUST00000170391]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039267
AA Change: R1026L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043903
Gene: ENSMUSG00000041235
AA Change: R1026L

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000051558
AA Change: R1026L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059079
Gene: ENSMUSG00000041235
AA Change: R1026L

Domain	Start	End	E-Value	Type
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: ENSMUST00000170391

SMART Domains

Protein: ENSMUSP00000127007
Gene: ENSMUSG00000041235

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	A	C	9: 106,314,006 (GRCm39)		probably benign	Het
Add1	C	A	5: 34,777,407 (GRCm39)	Q57K	probably damaging	Het
Alms1	A	G	6: 85,655,132 (GRCm39)	E3226G	probably benign	Het
Arl1	G	T	10: 88,577,884 (GRCm39)	R151L	probably damaging	Het
Cabs1	T	A	5: 88,127,869 (GRCm39)	D173E	possibly damaging	Het
Cdc34b	T	C	11: 94,632,845 (GRCm39)	L15P	probably benign	Het
Cdyl2	A	G	8: 117,351,092 (GRCm39)	V13A	probably damaging	Het
Cldn34b4	T	C	X: 75,441,195 (GRCm39)	S151P	probably damaging	Het
Col14a1	T	A	15: 55,192,662 (GRCm39)	I25N	unknown	Het
Crisp4	T	A	1: 18,198,901 (GRCm39)	T178S	probably benign	Het
Csmd2	C	T	4: 128,407,164 (GRCm39)		probably benign	Het
Csmd3	T	G	15: 47,475,225 (GRCm39)	N2454H	probably damaging	Het
Cytip	A	T	2: 58,023,785 (GRCm39)	I345N	probably damaging	Het
Frem2	A	T	3: 53,564,358 (GRCm39)	S50T	possibly damaging	Het
Gm9747	C	T	1: 82,211,870 (GRCm39)		probably benign	Het
Gpr37	A	G	6: 25,669,833 (GRCm39)	F337S	probably damaging	Het
Herc1	A	G	9: 66,394,342 (GRCm39)	E4182G	probably damaging	Het
Isyna1	C	T	8: 71,049,706 (GRCm39)	P511L	probably benign	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Larp7-ps	T	C	4: 92,079,737 (GRCm39)		probably null	Het
Mcm2	A	G	6: 88,864,614 (GRCm39)		probably benign	Het
Myl12a	T	C	17: 71,303,848 (GRCm39)	T10A	probably benign	Het
Nav3	A	G	10: 109,550,102 (GRCm39)	V1876A	possibly damaging	Het
Nkx6-1	T	A	5: 101,809,806 (GRCm39)	Q247L	probably benign	Het
Nol8	A	C	13: 49,814,784 (GRCm39)	K297N	possibly damaging	Het
Or4c119	T	A	2: 88,987,261 (GRCm39)	Y86F	probably benign	Het
Or51e1	A	T	7: 102,358,772 (GRCm39)	Q102L	probably damaging	Het
Or5w18	A	G	2: 87,633,224 (GRCm39)	T164A	probably benign	Het
Pard3b	A	T	1: 62,250,807 (GRCm39)	N579Y	probably damaging	Het
Pdcd11	T	A	19: 47,094,743 (GRCm39)	L509H	probably damaging	Het
Prss29	T	C	17: 25,541,437 (GRCm39)	S266P	probably benign	Het
Rapgef3	G	T	15: 97,647,543 (GRCm39)	H766N	probably benign	Het
Rasa1	A	T	13: 85,373,609 (GRCm39)	S818T	probably damaging	Het
Rtn4ip1	A	G	10: 43,804,322 (GRCm39)	M1V	probably null	Het
Sall1	A	T	8: 89,758,199 (GRCm39)	V635D	probably benign	Het
Slc35b4	C	T	6: 34,147,484 (GRCm39)	V35I	probably benign	Het
Slc5a11	G	A	7: 122,869,172 (GRCm39)	A587T	probably benign	Het
Slc6a21	T	C	7: 44,937,557 (GRCm39)	V616A	possibly damaging	Het
Sorl1	A	G	9: 41,912,788 (GRCm39)	S1398P	possibly damaging	Het
Srcap	A	G	7: 127,127,604 (GRCm39)	K390E	probably damaging	Het
Sycp2	C	T	2: 178,019,843 (GRCm39)	E558K	probably benign	Het
Tcf20	T	C	15: 82,739,564 (GRCm39)	N629S	possibly damaging	Het
Tmem154	A	G	3: 84,591,537 (GRCm39)	Y29C	probably damaging	Het
Tmtc3	A	G	10: 100,282,987 (GRCm39)	I856T	probably benign	Het
Zswim6	A	G	13: 107,865,101 (GRCm39)		noncoding transcript	Het

Other mutations in Chd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4119:Chd7	UTSW	4	8,785,658 (GRCm39)	intron	probably benign
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

Posted On

2014-01-21