Mutagenetix > Incidental Mutation

Incidental Mutation 'R8478:Chd5'

657357

Institutional Source

Beutler Lab

Gene Symbol

Chd5

Ensembl Gene

ENSMUSG00000005045

Gene Name

chromodomain helicase DNA binding protein 5

Synonyms

B230399N07Rik, 4930532L22Rik

MMRRC Submission

067922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152423108-152474651 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 152441147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 196 (R196*)

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: R196*

SMART Domains

Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: R196*

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: R196*

SMART Domains

Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: R196*

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

probably null
Transcript: ENSMUST00000164662
AA Change: R196*

SMART Domains

Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: R196*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	T	9: 107,805,844 (GRCm39)	I56F	possibly damaging	Het
Adgrl3	G	T	5: 81,942,348 (GRCm39)	R1357L	possibly damaging	Het
Alpk1	T	A	3: 127,522,961 (GRCm39)	D27V	probably damaging	Het
Als2	T	C	1: 59,225,175 (GRCm39)	E986G	probably damaging	Het
Ankle2	T	A	5: 110,400,818 (GRCm39)	L717Q	possibly damaging	Het
Arl8b	A	G	6: 108,760,285 (GRCm39)	T24A	possibly damaging	Het
Atp2a1	A	G	7: 126,047,502 (GRCm39)	I718T	probably damaging	Het
Atp6v0e2	T	A	6: 48,517,031 (GRCm39)	N70K	probably benign	Het
Bcl11a	A	G	11: 24,115,086 (GRCm39)	S810G	probably damaging	Het
Bcl2a1d	T	G	9: 88,605,488 (GRCm39)	*173S	probably null	Het
Bltp1	A	T	3: 37,087,426 (GRCm39)	D511V	possibly damaging	Het
Cacna1g	A	G	11: 94,317,278 (GRCm39)	Y1494H	probably damaging	Het
Ccdc7a	T	C	8: 129,487,850 (GRCm39)	K186E	possibly damaging	Het
Cfap43	T	C	19: 47,764,515 (GRCm39)	I817V	probably benign	Het
Chsy1	C	T	7: 65,820,748 (GRCm39)	H328Y	probably benign	Het
Clcn3	A	T	8: 61,372,522 (GRCm39)	S713T	probably benign	Het
Csrnp3	A	T	2: 65,708,400 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,332,001 (GRCm39)	N86S	probably benign	Het
Epha3	T	C	16: 63,593,444 (GRCm39)	T215A	probably damaging	Het
Fgf1	T	C	18: 38,987,944 (GRCm39)		probably null	Het
Fosl1	T	C	19: 5,504,947 (GRCm39)	S145P	probably damaging	Het
Frem3	T	A	8: 81,338,187 (GRCm39)	V160E	probably damaging	Het
Galk2	A	T	2: 125,771,505 (GRCm39)	K177*	probably null	Het
Gria1	T	C	11: 57,200,668 (GRCm39)	Y782H	probably damaging	Het
Gria4	C	T	9: 4,793,882 (GRCm39)	E59K	probably damaging	Het
Ighv1-11	A	G	12: 114,575,919 (GRCm39)	Y99H	possibly damaging	Het
Insm2	A	T	12: 55,647,330 (GRCm39)	Y358F	probably damaging	Het
Marveld3	C	T	8: 110,688,600 (GRCm39)	G47D	probably damaging	Het
Mthfd1l	A	G	10: 4,098,064 (GRCm39)	D967G	probably damaging	Het
Nav2	G	T	7: 49,111,733 (GRCm39)	M746I	probably damaging	Het
Niban1	C	A	1: 151,512,263 (GRCm39)	T55K	possibly damaging	Het
Nmnat1	A	G	4: 149,557,841 (GRCm39)	I67T	possibly damaging	Het
Nub1	G	T	5: 24,906,422 (GRCm39)	R316L	probably benign	Het
Nxn	A	G	11: 76,164,869 (GRCm39)	V214A	probably damaging	Het
Or52n5	C	A	7: 104,588,477 (GRCm39)	S248Y	probably benign	Het
Pelp1	A	T	11: 70,285,146 (GRCm39)	D907E	unknown	Het
Pik3c2a	A	T	7: 116,017,584 (GRCm39)	S58T	probably damaging	Het
Pik3ca	A	G	3: 32,505,997 (GRCm39)	N703S	probably benign	Het
Polr3c	G	A	3: 96,624,066 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,185,318 (GRCm39)	G61R	probably damaging	Het
Pou2f1	A	T	1: 165,759,287 (GRCm39)	M1K	probably null	Het
Prkdc	T	A	16: 15,466,788 (GRCm39)	C90S	probably benign	Het
Prokr1	A	G	6: 87,558,330 (GRCm39)	Y352H	probably benign	Het
Rhod	C	T	19: 4,476,719 (GRCm39)	R134H	probably damaging	Het
Rufy3	C	T	5: 88,762,895 (GRCm39)	R110W	probably damaging	Het
Sema4c	A	T	1: 36,590,871 (GRCm39)	M460K	probably benign	Het
Slc46a3	T	C	5: 147,815,963 (GRCm39)	S455G	probably benign	Het
Smyd1	A	T	6: 71,193,811 (GRCm39)	H371Q	probably damaging	Het
Steap1	A	G	5: 5,786,432 (GRCm39)	M335T	probably benign	Het
Suox	A	G	10: 128,506,921 (GRCm39)	V369A	probably damaging	Het
Thbs2	T	C	17: 14,900,666 (GRCm39)	I514V	probably benign	Het
Tie1	A	T	4: 118,341,979 (GRCm39)		probably null	Het
Tmem131l	T	C	3: 83,805,769 (GRCm39)	E1558G	probably damaging	Het
Tpcn1	G	T	5: 120,698,386 (GRCm39)	H45Q	probably benign	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Ush2a	G	A	1: 188,175,429 (GRCm39)	V1176M	possibly damaging	Het
Utrn	A	G	10: 12,524,892 (GRCm39)	M2197T	probably benign	Het
Vmn1r50	G	T	6: 90,085,071 (GRCm39)	C272F	probably benign	Het
Vmn2r10	A	T	5: 109,143,636 (GRCm39)	N771K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,257 (GRCm39)	F691I	possibly damaging	Het
Vmn2r53	T	C	7: 12,340,281 (GRCm39)	Q64R	probably benign	Het
Vmn2r95	G	T	17: 18,672,544 (GRCm39)	L760F	probably damaging	Het
Wdr97	T	C	15: 76,247,629 (GRCm39)		probably null	Het
Xdh	C	A	17: 74,213,053 (GRCm39)	E863D	probably benign	Het
Ykt6	A	G	11: 5,912,407 (GRCm39)	Y120C	possibly damaging	Het
Zranb2	A	G	3: 157,251,745 (GRCm39)	*321W	probably null	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCTATGGCCTCACTTTG -3'
(R):5'- AGCCCTGTAGGATCTAGAGG -3'

Sequencing Primer
(F):5'- GCTATGGCCTCACTTTGTCCTTC -3'
(R):5'- GTGCCCAGTCACCCATAG -3'

Posted On

2021-01-18