Mutagenetix > Incidental Mutation

Incidental Mutation 'R9429:Chd5'

712798

Institutional Source

Beutler Lab

Gene Symbol

Chd5

Ensembl Gene

ENSMUSG00000005045

Gene Name

chromodomain helicase DNA binding protein 5

Synonyms

B230399N07Rik, 4930532L22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152423108-152474651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152447364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 471 (V471A)

Ref Sequence

ENSEMBL: ENSMUSP00000132600 (fasta)

Gene Model

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

AlphaFold

A2A8L1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005175
AA Change: V471A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: V471A

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

possibly damaging
Transcript: ENSMUST00000030775
AA Change: V471A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: V471A

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 damaging
Transcript: ENSMUST00000164662
AA Change: V471A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: V471A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	T	8: 33,919,165 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam7	G	C	14: 68,771,080 (GRCm39)	H15Q	probably null	Het
Adgrv1	A	T	13: 81,567,468 (GRCm39)	I5235N	probably damaging	Het
Adgrv1	A	C	13: 81,741,165 (GRCm39)	C100G	probably damaging	Het
Aebp1	A	G	11: 5,821,649 (GRCm39)	T1063A	probably benign	Het
Atmin	A	G	8: 117,670,307 (GRCm39)	R48G	probably benign	Het
Atxn10	A	G	15: 85,346,565 (GRCm39)	E441G	probably benign	Het
Catsper1	T	C	19: 5,389,755 (GRCm39)	V505A	possibly damaging	Het
Cma2	A	G	14: 56,210,276 (GRCm39)	I110V	possibly damaging	Het
Cnst	A	C	1: 179,432,566 (GRCm39)	N243T	probably damaging	Het
Col15a1	A	T	4: 47,310,439 (GRCm39)	N1203I	probably damaging	Het
Col6a3	T	A	1: 90,731,585 (GRCm39)	H1556L	probably benign	Het
Crybg3	T	A	16: 59,375,556 (GRCm39)	K185N	probably benign	Het
Dnah1	G	A	14: 30,997,499 (GRCm39)	Q2620*	probably null	Het
Dusp10	A	C	1: 183,801,091 (GRCm39)	D286A	probably benign	Het
Erich6	A	G	3: 58,536,935 (GRCm39)	V252A	possibly damaging	Het
Fhod1	A	G	8: 106,057,139 (GRCm39)	L945P	probably damaging	Het
Foxh1	C	T	15: 76,553,442 (GRCm39)	R120Q	probably null	Het
Frmd4b	T	C	6: 97,279,252 (GRCm39)	D591G	probably damaging	Het
Gbe1	G	A	16: 70,292,203 (GRCm39)	V512I	probably benign	Het
Ghitm	A	G	14: 36,852,655 (GRCm39)	S142P	probably damaging	Het
Gldc	C	T	19: 30,091,172 (GRCm39)	A808T	possibly damaging	Het
Gm14496	C	T	2: 181,637,934 (GRCm39)	T336I	possibly damaging	Het
Ido2	T	C	8: 25,037,194 (GRCm39)	T171A	probably damaging	Het
Kctd19	A	T	8: 106,109,652 (GRCm39)	I930N	probably damaging	Het
Kctd2	T	C	11: 115,318,277 (GRCm39)	Y187H	probably damaging	Het
L3hypdh	T	C	12: 72,124,203 (GRCm39)	T246A	probably damaging	Het
Lama1	A	G	17: 68,118,449 (GRCm39)	M2554V		Het
Laptm5	A	G	4: 130,655,961 (GRCm39)	Y93C		Het
Mroh2b	T	A	15: 4,963,907 (GRCm39)	L833Q	probably damaging	Het
Ms4a12	T	C	19: 11,193,424 (GRCm39)	D187G	probably damaging	Het
Muc4	C	T	16: 32,576,098 (GRCm39)	T1866I	unknown	Het
Myo1a	G	T	10: 127,543,247 (GRCm39)	D168Y	probably damaging	Het
Nek1	C	T	8: 61,559,892 (GRCm39)	S1005L	probably benign	Het
Nrg1	T	A	8: 32,308,592 (GRCm39)	M523L	probably benign	Het
Nt5c2	T	A	19: 46,877,459 (GRCm39)	H494L	probably benign	Het
Oasl2	G	A	5: 115,043,040 (GRCm39)	V271I	probably benign	Het
Or13a1	T	G	6: 116,471,292 (GRCm39)	S241A	probably damaging	Het
Or52s1	C	T	7: 102,861,871 (GRCm39)	A268V	possibly damaging	Het
Or5e1	G	T	7: 108,354,412 (GRCm39)	M116I	probably damaging	Het
Per2	T	C	1: 91,351,489 (GRCm39)	T1006A	probably benign	Het
Phyhd1	C	A	2: 30,156,917 (GRCm39)	F19L	probably benign	Het
Pter	T	A	2: 12,985,112 (GRCm39)	D147E	probably benign	Het
Rps6ka1	A	C	4: 133,598,900 (GRCm39)	L90V	probably damaging	Het
Rrp15	A	T	1: 186,481,368 (GRCm39)	D46E	probably benign	Het
Ryr2	A	G	13: 11,809,459 (GRCm39)	F789L	probably damaging	Het
Sepsecs	T	C	5: 52,801,294 (GRCm39)	K456R	probably benign	Het
Septin11	G	A	5: 93,321,397 (GRCm39)		probably null	Het
Sowahb	T	C	5: 93,191,080 (GRCm39)	I546M	possibly damaging	Het
Spata31	C	A	13: 65,070,336 (GRCm39)	T828K	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,034 (GRCm39)	T147A	probably benign	Het
Tcf3	G	A	10: 80,252,436 (GRCm39)	P350S	probably benign	Het
Tek	A	G	4: 94,715,515 (GRCm39)	D402G	probably benign	Het
Themis3	T	C	17: 66,866,665 (GRCm39)	R192G	probably damaging	Het
Tmc1	T	A	19: 20,793,548 (GRCm39)	I538F	possibly damaging	Het
Trpc3	T	G	3: 36,705,777 (GRCm39)	I473L	probably benign	Het
Ttll2	A	T	17: 7,620,085 (GRCm39)	L4Q	probably damaging	Het
Urb2	T	A	8: 124,750,226 (GRCm39)	Y5*	probably null	Het
Vav3	T	A	3: 109,564,561 (GRCm39)	Y673*	probably null	Het
Vmn1r32	T	A	6: 66,530,237 (GRCm39)	T180S	probably benign	Het
Vmn1r90	A	T	7: 14,295,647 (GRCm39)	N150K	probably damaging	Het
Zbed6	A	C	1: 133,585,453 (GRCm39)	I628R	probably damaging	Het
Zfp1007	A	T	5: 109,824,334 (GRCm39)	L372*	probably null	Het
Zfp750	G	A	11: 121,404,693 (GRCm39)	R61C	probably damaging	Het
Zfp87	A	G	13: 74,520,703 (GRCm39)	I125T	probably damaging	Het
Zfta	T	C	19: 7,399,594 (GRCm39)	L447P	probably 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
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
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
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'- ACAGCAATGTGTGGGTTCC -3'
(R):5'- ACAAGCCTCCTTCACAGCTG -3'

Sequencing Primer
(F):5'- CCGAGGAAGCGACTGGTATCAC -3'
(R):5'- TCACAGCTGCTAGTCCCAG -3'

Posted On

2022-05-16