Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Chd5'

93319

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chd5

Ensembl Gene

ENSMUSG00000005045

Gene Name

chromodomain helicase DNA binding protein 5

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

152338651-152390194 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 152384115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005175] [ENSMUST00000030775] [ENSMUST00000164662]

AlphaFold

A2A8L1

Predicted Effect

probably benign
Transcript: ENSMUST00000005175

SMART Domains

Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045

Domain	Start	End	E-Value	Type
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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Chd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Chd5	APN	4	152360602	missense	probably damaging	1.00
IGL00886:Chd5	APN	4	152359699	missense	probably benign	0.00
IGL00963:Chd5	APN	4	152382938	missense	probably damaging	1.00
IGL01399:Chd5	APN	4	152356687	missense	probably damaging	1.00
IGL01606:Chd5	APN	4	152360975	missense	probably damaging	0.99
IGL01636:Chd5	APN	4	152384653	nonsense	probably null
IGL02009:Chd5	APN	4	152366213	missense	probably damaging	1.00
IGL02417:Chd5	APN	4	152367294	missense	probably damaging	0.97
IGL02504:Chd5	APN	4	152363322	missense	probably damaging	0.99
IGL02508:Chd5	APN	4	152363024	missense	probably damaging	1.00
IGL02597:Chd5	APN	4	152371712	missense	probably damaging	1.00
IGL02608:Chd5	APN	4	152356107	missense	possibly damaging	0.94
IGL02612:Chd5	APN	4	152360576	missense	probably damaging	1.00
IGL02658:Chd5	APN	4	152360593	missense	probably damaging	1.00
IGL02662:Chd5	APN	4	152372131	missense	probably damaging	1.00
IGL02676:Chd5	APN	4	152356073	splice site	probably benign
IGL02871:Chd5	APN	4	152376685	missense	probably damaging	1.00
IGL02942:Chd5	APN	4	152385725	missense	probably damaging	0.98
IGL02956:Chd5	APN	4	152379956	missense	probably benign	0.00
IGL03286:Chd5	APN	4	152385495	missense	probably benign	0.00
IGL03348:Chd5	APN	4	152376685	missense	probably damaging	1.00
IGL03398:Chd5	APN	4	152377082	missense	probably damaging	0.97
PIT1430001:Chd5	UTSW	4	152370637	missense	probably damaging	1.00
PIT4151001:Chd5	UTSW	4	152378529	missense	probably damaging	0.99
R0079:Chd5	UTSW	4	152385749	missense	probably damaging	1.00
R0241:Chd5	UTSW	4	152366132	missense	probably damaging	1.00
R0241:Chd5	UTSW	4	152366132	missense	probably damaging	1.00
R0379:Chd5	UTSW	4	152383321	missense	probably benign	0.00
R0388:Chd5	UTSW	4	152371644	missense	probably damaging	1.00
R0675:Chd5	UTSW	4	152385950	missense	probably benign	0.06
R0730:Chd5	UTSW	4	152347984	missense	possibly damaging	0.72
R0799:Chd5	UTSW	4	152384159	missense	probably damaging	1.00
R0800:Chd5	UTSW	4	152356157	missense	probably damaging	1.00
R1276:Chd5	UTSW	4	152378734	missense	probably damaging	1.00
R1752:Chd5	UTSW	4	152375133	missense	probably damaging	1.00
R1753:Chd5	UTSW	4	152378815	missense	probably damaging	1.00
R1843:Chd5	UTSW	4	152385806	missense	probably damaging	1.00
R1850:Chd5	UTSW	4	152370533	missense	probably damaging	1.00
R1851:Chd5	UTSW	4	152378270	missense	probably damaging	0.97
R1859:Chd5	UTSW	4	152380523	missense	probably benign	0.00
R1983:Chd5	UTSW	4	152384666	missense	possibly damaging	0.89
R2404:Chd5	UTSW	4	152367334	missense	probably damaging	1.00
R2897:Chd5	UTSW	4	152372115	missense	probably damaging	1.00
R2898:Chd5	UTSW	4	152372115	missense	probably damaging	1.00
R3893:Chd5	UTSW	4	152360656	missense	probably damaging	1.00
R3938:Chd5	UTSW	4	152377055	missense	probably benign	0.05
R4707:Chd5	UTSW	4	152360582	missense	probably damaging	1.00
R4754:Chd5	UTSW	4	152377746	missense	probably damaging	0.99
R4911:Chd5	UTSW	4	152360672	missense	probably damaging	1.00
R4924:Chd5	UTSW	4	152366429	missense	possibly damaging	0.50
R4926:Chd5	UTSW	4	152383311	missense	probably benign	0.00
R5256:Chd5	UTSW	4	152372097	missense	probably benign	0.01
R5524:Chd5	UTSW	4	152376630	missense	probably benign
R5552:Chd5	UTSW	4	152385815	missense	possibly damaging	0.95
R5895:Chd5	UTSW	4	152379932	missense	probably benign	0.13
R5945:Chd5	UTSW	4	152379951	missense	probably benign
R6007:Chd5	UTSW	4	152379421	missense	probably null	1.00
R6039:Chd5	UTSW	4	152353621	small deletion	probably benign
R6039:Chd5	UTSW	4	152353621	small deletion	probably benign
R6172:Chd5	UTSW	4	152379391	missense	probably damaging	1.00
R6173:Chd5	UTSW	4	152379391	missense	probably damaging	1.00
R6323:Chd5	UTSW	4	152367334	missense	probably damaging	0.99
R6331:Chd5	UTSW	4	152382408	missense	probably benign	0.02
R6495:Chd5	UTSW	4	152367372	missense	probably damaging	1.00
R6528:Chd5	UTSW	4	152356676	missense	probably damaging	1.00
R6849:Chd5	UTSW	4	152378538	missense	probably damaging	1.00
R6854:Chd5	UTSW	4	152382938	missense	probably damaging	1.00
R6859:Chd5	UTSW	4	152378207	missense	probably damaging	1.00
R6999:Chd5	UTSW	4	152374434	missense	probably damaging	1.00
R7034:Chd5	UTSW	4	152360941	missense	possibly damaging	0.89
R7110:Chd5	UTSW	4	152385439	missense	probably damaging	1.00
R7361:Chd5	UTSW	4	152363288	missense	probably damaging	0.99
R7397:Chd5	UTSW	4	152368012	missense	possibly damaging	0.82
R7440:Chd5	UTSW	4	152384651	missense	probably benign	0.01
R7489:Chd5	UTSW	4	152373468	missense	probably damaging	1.00
R7810:Chd5	UTSW	4	152358575	missense	probably damaging	0.97
R8057:Chd5	UTSW	4	152366372	missense	probably damaging	1.00
R8078:Chd5	UTSW	4	152360991	missense	possibly damaging	0.90
R8092:Chd5	UTSW	4	152378804	missense	probably damaging	0.99
R8170:Chd5	UTSW	4	152376583	missense	probably benign	0.26
R8255:Chd5	UTSW	4	152379423	missense	probably damaging	0.99
R8348:Chd5	UTSW	4	152360716	missense	probably damaging	0.98
R8448:Chd5	UTSW	4	152360716	missense	probably damaging	0.98
R8478:Chd5	UTSW	4	152356690	nonsense	probably null
R8482:Chd5	UTSW	4	152356690	nonsense	probably null
R8670:Chd5	UTSW	4	152385496	missense	possibly damaging	0.81
R8733:Chd5	UTSW	4	152379466	missense	probably damaging	1.00
R8743:Chd5	UTSW	4	152366405	missense	probably benign	0.03
R8941:Chd5	UTSW	4	152378848	missense	possibly damaging	0.82
R9103:Chd5	UTSW	4	152376987	missense	possibly damaging	0.62
R9160:Chd5	UTSW	4	152385459	missense	probably damaging	0.99
R9221:Chd5	UTSW	4	152371665	missense	probably damaging	0.96
R9399:Chd5	UTSW	4	152384135	missense	probably benign	0.06
R9429:Chd5	UTSW	4	152362907	missense	probably damaging	0.99
Z1176:Chd5	UTSW	4	152378479	missense	probably damaging	0.98

Posted On

2013-12-09