Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01636:Chd5'

93013

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 #

IGL01636

Quality Score

Status

Chromosome

Chromosomal Location

152423108-152474651 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 152469110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1812 (K1812*)

Ref Sequence

ENSEMBL: ENSMUSP00000132600 (fasta)

Gene Model

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

AlphaFold

A2A8L1

Predicted Effect

probably null
Transcript: ENSMUST00000005175
AA Change: K1849*

SMART Domains

Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: K1849*

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 null
Transcript: ENSMUST00000030775
AA Change: K1849*

SMART Domains

Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: K1849*

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 null
Transcript: ENSMUST00000164662
AA Change: K1812*

SMART Domains

Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: K1812*

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrd1	G	T	5: 129,219,516 (GRCm39)		probably benign	Het
Bmp7	T	C	2: 172,717,001 (GRCm39)		probably benign	Het
Ccdc54	A	G	16: 50,410,277 (GRCm39)	*330Q	probably null	Het
Cnga3	T	A	1: 37,299,874 (GRCm39)	I236N	possibly damaging	Het
Ddost	T	G	4: 138,036,707 (GRCm39)	D135E	possibly damaging	Het
Dicer1	T	C	12: 104,688,500 (GRCm39)	D359G	probably damaging	Het
Dnah17	A	C	11: 117,931,882 (GRCm39)	S3697A	probably benign	Het
Dnttip2	G	A	3: 122,076,123 (GRCm39)	G685D	possibly damaging	Het
Dst	T	G	1: 34,254,650 (GRCm39)	S4552R	probably damaging	Het
Ebf2	G	A	14: 67,476,927 (GRCm39)	E157K	probably damaging	Het
Ehbp1	C	T	11: 22,039,584 (GRCm39)	V839M	probably benign	Het
Ehmt1	G	T	2: 24,729,620 (GRCm39)	T639K	probably damaging	Het
Esyt2	T	C	12: 116,329,550 (GRCm39)		probably null	Het
Etv6	T	C	6: 134,225,350 (GRCm39)	S194P	probably benign	Het
Fam184b	T	C	5: 45,741,637 (GRCm39)	H198R	probably benign	Het
Fam210b	T	C	2: 172,193,460 (GRCm39)	F91S	probably damaging	Het
Fam81a	G	A	9: 70,006,434 (GRCm39)	Q193*	probably null	Het
Fto	A	G	8: 92,135,969 (GRCm39)	D79G	probably damaging	Het
Haspin	C	T	11: 73,028,231 (GRCm39)	R286H	possibly damaging	Het
Hmcn1	C	T	1: 150,455,984 (GRCm39)	C5312Y	probably damaging	Het
Ik	T	A	18: 36,884,254 (GRCm39)	D245E	possibly damaging	Het
Itga1	A	G	13: 115,143,484 (GRCm39)	V349A	possibly damaging	Het
Kdm8	T	C	7: 125,060,377 (GRCm39)	V400A	probably damaging	Het
Larp1b	G	T	3: 40,924,913 (GRCm39)	R177L	probably benign	Het
Lifr	T	G	15: 7,208,499 (GRCm39)		probably benign	Het
Lrrn2	T	C	1: 132,864,959 (GRCm39)	L8P	possibly damaging	Het
Marcksl1	T	A	4: 129,408,587 (GRCm39)	D55E	probably benign	Het
Med12	C	A	X: 100,318,795 (GRCm39)	S74R	probably damaging	Het
Mtarc2	T	C	1: 184,564,838 (GRCm39)	K231E	probably benign	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c35	A	T	10: 129,168,752 (GRCm39)	M1L	probably damaging	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or8k39	G	A	2: 86,563,945 (GRCm39)	Q4*	probably null	Het
Orc3	A	C	4: 34,595,096 (GRCm39)	L233R	probably damaging	Het
Pik3cd	A	G	4: 149,738,772 (GRCm39)	M715T	possibly damaging	Het
Prss43	T	A	9: 110,656,505 (GRCm39)	L64Q	possibly damaging	Het
Pyroxd2	C	A	19: 42,726,771 (GRCm39)	G209V	probably benign	Het
Rab3b	A	G	4: 108,797,916 (GRCm39)	D198G	possibly damaging	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,825,929 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,871,443 (GRCm39)		probably benign	Het
Strip2	C	A	6: 29,931,192 (GRCm39)	T381K	probably benign	Het
Svep1	A	T	4: 58,116,622 (GRCm39)	L876Q	possibly damaging	Het
Tle4	T	C	19: 14,429,897 (GRCm39)	I625V	probably damaging	Het
Tnfrsf23	T	C	7: 143,233,736 (GRCm39)	T81A	probably damaging	Het
Ttc41	A	G	10: 86,612,542 (GRCm39)	K1272E	probably benign	Het
Usp3	A	G	9: 66,469,834 (GRCm39)		probably null	Het
Vmn1r121	C	T	7: 20,832,282 (GRCm39)	V53M	probably benign	Het
Vmn1r65	A	T	7: 6,011,720 (GRCm39)	S171R	probably benign	Het
Vmn2r4	A	T	3: 64,313,657 (GRCm39)	D441E	probably benign	Het
Vps13d	A	T	4: 144,801,618 (GRCm39)	H2353Q	probably damaging	Het
Vwa8	T	C	14: 79,435,794 (GRCm39)	S1835P	possibly damaging	Het

Other mutations in Chd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2013-12-09