Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Chd1'

517456

Institutional Source

Beutler Lab

Gene Symbol

Chd1

Ensembl Gene

ENSMUSG00000023852

Gene Name

chromodomain helicase DNA binding protein 1

Synonyms

4930525N21Rik

MMRRC Submission

044593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15704967-15772610 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15730602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 185 (N185I)

Ref Sequence

ENSEMBL: ENSMUSP00000024627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024627] [ENSMUST00000173311]

AlphaFold

P40201

Predicted Effect

probably benign
Transcript: ENSMUST00000024627
AA Change: N185I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: N185I

Domain	Start	End	E-Value	Type
low complexity region	17	67	N/A	INTRINSIC
low complexity region	105	115	N/A	INTRINSIC
low complexity region	116	136	N/A	INTRINSIC
low complexity region	151	175	N/A	INTRINSIC
low complexity region	213	230	N/A	INTRINSIC
CHROMO	268	355	6.43e-20	SMART
CHROMO	385	443	1.19e-14	SMART
DEXDc	475	672	3.44e-34	SMART
Blast:DEXDc	692	786	2e-54	BLAST
low complexity region	787	799	N/A	INTRINSIC
HELICc	816	900	8.48e-25	SMART
Blast:DEXDc	955	1234	1e-112	BLAST
PDB:4B4C\|A	1119	1320	1e-132	PDB
low complexity region	1325	1348	N/A	INTRINSIC
low complexity region	1377	1388	N/A	INTRINSIC
DUF4208	1396	1500	5.54e-51	SMART
low complexity region	1507	1516	N/A	INTRINSIC
low complexity region	1538	1549	N/A	INTRINSIC
low complexity region	1626	1650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173159

Predicted Effect

probably benign
Transcript: ENSMUST00000173311
AA Change: N185I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134091
Gene: ENSMUSG00000023852
AA Change: N185I

Domain	Start	End	E-Value	Type
low complexity region	17	67	N/A	INTRINSIC
low complexity region	105	115	N/A	INTRINSIC
low complexity region	116	136	N/A	INTRINSIC
low complexity region	151	175	N/A	INTRINSIC
low complexity region	213	230	N/A	INTRINSIC
CHROMO	268	355	6.43e-20	SMART
CHROMO	385	443	1.19e-14	SMART
DEXDc	475	672	3.44e-34	SMART
Blast:DEXDc	692	786	2e-54	BLAST
low complexity region	787	799	N/A	INTRINSIC
HELICc	816	900	8.48e-25	SMART
Blast:DEXDc	955	1078	2e-38	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with arrest of epiblast development due to increased apoptosis and cell cycle defects, abnormal rostral-caudal axis patterning, and failure to gastrulate. [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
Acot8	A	G	2: 164,804,735 (GRCm38)	V28A	possibly damaging	Het
Ak1	T	A	2: 32,630,373 (GRCm38)	M61K	probably damaging	Het
Akap12	T	C	10: 4,355,148 (GRCm38)	S653P	probably damaging	Het
Anapc4	G	A	5: 52,864,553 (GRCm38)	R659H	possibly damaging	Het
Arel1	T	C	12: 84,940,385 (GRCm38)	N86D	possibly damaging	Het
BC005561	A	T	5: 104,522,303 (GRCm38)	I1564L	probably benign	Het
Bco1	A	G	8: 117,127,506 (GRCm38)	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,978,166 (GRCm38)	D81E	probably damaging	Het
Clca4b	T	G	3: 144,911,327 (GRCm38)	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,455,825 (GRCm38)	T1466A	unknown	Het
Cxcr4	T	C	1: 128,589,094 (GRCm38)	I277V	probably benign	Het
Dgkq	A	G	5: 108,654,376 (GRCm38)	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,809,269 (GRCm38)	L3030F	probably damaging	Het
Epg5	T	A	18: 77,948,254 (GRCm38)	D55E	probably benign	Het
Ermap	A	T	4: 119,178,140 (GRCm38)	N550K	probably damaging	Het
Fnbp1l	A	T	3: 122,556,440 (GRCm38)	I374N	probably damaging	Het
Gadl1	T	A	9: 116,041,002 (GRCm38)	*479K	probably null	Het
Gm5591	T	A	7: 38,519,035 (GRCm38)	T805S	probably damaging	Het
H2-T3	A	T	17: 36,187,019 (GRCm38)	M334K	possibly damaging	Het
Ihh	C	T	1: 74,946,442 (GRCm38)	A295T	probably damaging	Het
Il18r1	T	A	1: 40,491,182 (GRCm38)	Y356*	probably null	Het
Lingo3	A	G	10: 80,835,316 (GRCm38)	V260A	probably damaging	Het
Lrp2	T	G	2: 69,505,156 (GRCm38)	M1408L	probably benign	Het
Mical1	C	A	10: 41,484,735 (GRCm38)	H657N	probably benign	Het
Mpp2	T	A	11: 102,080,769 (GRCm38)	M12L	probably benign	Het
Muc16	A	T	9: 18,641,721 (GRCm38)	D4425E	probably benign	Het
Muc4	T	A	16: 32,759,320 (GRCm38)		probably null	Het
Myt1l	T	A	12: 29,895,299 (GRCm38)	F1021Y	unknown	Het
Nbas	T	C	12: 13,288,749 (GRCm38)	S197P	probably damaging	Het
Nckap1	T	C	2: 80,512,549 (GRCm38)		probably null	Het
Nek1	T	G	8: 61,100,012 (GRCm38)	V903G	probably benign	Het
Olfr1184	T	A	2: 88,487,218 (GRCm38)	I162N	possibly damaging	Het
Olfr299	A	G	7: 86,465,680 (GRCm38)	I90V	probably damaging	Het
Olfr377-ps1	T	G	11: 73,388,691 (GRCm38)	S112R	probably damaging	Het
Olfr889	T	C	9: 38,116,054 (GRCm38)	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,781,244 (GRCm38)	V53A	probably benign	Het
Ralgapb	T	A	2: 158,444,620 (GRCm38)	D328E	probably damaging	Het
Rgma	T	A	7: 73,409,694 (GRCm38)	V88E	probably damaging	Het
Slc30a6	A	G	17: 74,423,113 (GRCm38)	T333A	probably damaging	Het
Spr	T	C	6: 85,137,057 (GRCm38)		probably null	Het
Srek1	A	T	13: 103,743,568 (GRCm38)	V494E	probably benign	Het
Ston1	A	T	17: 88,635,303 (GRCm38)	T46S	probably benign	Het
Stox2	T	C	8: 47,192,044 (GRCm38)	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333 (GRCm38)	R564Q	probably benign	Het
Tmc5	T	A	7: 118,645,316 (GRCm38)	N472K	probably damaging	Het
Ttc41	A	G	10: 86,758,270 (GRCm38)	T856A	possibly damaging	Het
Ttn	A	T	2: 76,778,510 (GRCm38)	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,580,438 (GRCm38)	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,694,057 (GRCm38)	I761F	probably damaging	Het
Zfp109	T	C	7: 24,228,445 (GRCm38)	D521G	probably benign	Het
Zfp516	A	G	18: 82,987,350 (GRCm38)	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,216 (GRCm38)	I250N	probably damaging	Het
Zpbp	T	A	11: 11,408,538 (GRCm38)	Y243F	probably damaging	Het

Other mutations in Chd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Chd1	APN	17	15,732,565 (GRCm38)	missense	probably benign	0.37
IGL01356:Chd1	APN	17	15,749,865 (GRCm38)	missense	probably damaging	1.00
IGL01369:Chd1	APN	17	15,754,997 (GRCm38)	missense	probably damaging	0.97
IGL01519:Chd1	APN	17	17,378,569 (GRCm38)	missense	probably damaging	1.00
IGL01604:Chd1	APN	17	15,770,097 (GRCm38)	missense	possibly damaging	0.95
IGL01635:Chd1	APN	17	17,378,596 (GRCm38)	missense	probably damaging	1.00
IGL01721:Chd1	APN	17	15,770,168 (GRCm38)	missense	probably damaging	1.00
IGL01959:Chd1	APN	17	15,742,173 (GRCm38)	missense	probably damaging	1.00
IGL02367:Chd1	APN	17	17,390,053 (GRCm38)	missense	probably damaging	0.98
IGL02476:Chd1	APN	17	15,734,273 (GRCm38)	missense	probably damaging	1.00
IGL02756:Chd1	APN	17	15,730,807 (GRCm38)	missense	probably damaging	0.97
IGL02817:Chd1	APN	17	15,749,500 (GRCm38)	missense	possibly damaging	0.92
IGL03084:Chd1	APN	17	15,770,298 (GRCm38)	missense	probably benign	0.22
IGL03108:Chd1	APN	17	15,725,281 (GRCm38)	missense	possibly damaging	0.70
Holly	UTSW	17	15,726,283 (GRCm38)	missense	possibly damaging	0.72
R0053:Chd1	UTSW	17	15,747,189 (GRCm38)	missense	probably damaging	1.00
R0053:Chd1	UTSW	17	15,747,189 (GRCm38)	missense	probably damaging	1.00
R0128:Chd1	UTSW	17	17,393,567 (GRCm38)	missense	probably damaging	1.00
R0197:Chd1	UTSW	17	15,725,431 (GRCm38)	missense	probably benign
R0285:Chd1	UTSW	17	17,374,680 (GRCm38)	splice site	probably benign
R0326:Chd1	UTSW	17	15,768,568 (GRCm38)	missense	probably benign
R0326:Chd1	UTSW	17	15,768,566 (GRCm38)	missense	probably damaging	1.00
R0372:Chd1	UTSW	17	17,387,290 (GRCm38)	missense	probably benign	0.14
R0391:Chd1	UTSW	17	15,749,894 (GRCm38)	missense	probably damaging	1.00
R0486:Chd1	UTSW	17	15,734,342 (GRCm38)	missense	probably damaging	0.99
R0637:Chd1	UTSW	17	15,742,288 (GRCm38)	missense	possibly damaging	0.50
R0675:Chd1	UTSW	17	15,758,261 (GRCm38)	unclassified	probably benign
R0701:Chd1	UTSW	17	15,725,431 (GRCm38)	missense	probably benign
R0788:Chd1	UTSW	17	15,707,114 (GRCm38)	missense	possibly damaging	0.86
R0848:Chd1	UTSW	17	15,770,241 (GRCm38)	missense	probably damaging	1.00
R0883:Chd1	UTSW	17	15,725,431 (GRCm38)	missense	probably benign
R1169:Chd1	UTSW	17	15,735,732 (GRCm38)	missense	probably damaging	1.00
R1218:Chd1	UTSW	17	15,725,312 (GRCm38)	missense	probably damaging	1.00
R1370:Chd1	UTSW	17	17,387,480 (GRCm38)	missense	probably benign	0.00
R1470:Chd1	UTSW	17	15,726,283 (GRCm38)	missense	possibly damaging	0.72
R1470:Chd1	UTSW	17	15,726,283 (GRCm38)	missense	possibly damaging	0.72
R1478:Chd1	UTSW	17	15,739,507 (GRCm38)	missense	probably damaging	0.99
R1752:Chd1	UTSW	17	15,743,232 (GRCm38)	critical splice donor site	probably null
R1759:Chd1	UTSW	17	17,387,271 (GRCm38)	missense	probably benign	0.00
R1767:Chd1	UTSW	17	15,770,303 (GRCm38)	missense	probably damaging	1.00
R1938:Chd1	UTSW	17	15,762,486 (GRCm38)	missense	probably benign	0.39
R2007:Chd1	UTSW	17	15,731,006 (GRCm38)	missense	probably damaging	1.00
R2069:Chd1	UTSW	17	15,742,294 (GRCm38)	missense	probably damaging	1.00
R3771:Chd1	UTSW	17	17,374,651 (GRCm38)	missense	probably damaging	1.00
R3773:Chd1	UTSW	17	17,374,651 (GRCm38)	missense	probably damaging	1.00
R3849:Chd1	UTSW	17	15,731,871 (GRCm38)	missense	probably damaging	1.00
R4241:Chd1	UTSW	17	15,770,027 (GRCm38)	nonsense	probably null
R4242:Chd1	UTSW	17	15,770,027 (GRCm38)	nonsense	probably null
R4354:Chd1	UTSW	17	17,390,001 (GRCm38)	missense	probably benign	0.23
R4468:Chd1	UTSW	17	15,760,395 (GRCm38)	missense	probably damaging	0.99
R4469:Chd1	UTSW	17	15,760,395 (GRCm38)	missense	probably damaging	0.99
R4731:Chd1	UTSW	17	17,377,817 (GRCm38)	missense	probably benign	0.36
R4824:Chd1	UTSW	17	15,733,124 (GRCm38)	missense	probably damaging	1.00
R4840:Chd1	UTSW	17	15,768,754 (GRCm38)	missense	probably damaging	1.00
R4840:Chd1	UTSW	17	15,768,753 (GRCm38)	nonsense	probably null
R4880:Chd1	UTSW	17	17,374,654 (GRCm38)	missense	probably damaging	1.00
R4960:Chd1	UTSW	17	15,742,231 (GRCm38)	missense	probably damaging	0.96
R5071:Chd1	UTSW	17	15,762,405 (GRCm38)	missense	probably benign
R5078:Chd1	UTSW	17	15,726,354 (GRCm38)	missense	possibly damaging	0.93
R5114:Chd1	UTSW	17	15,728,198 (GRCm38)	missense	probably benign	0.25
R5268:Chd1	UTSW	17	15,735,743 (GRCm38)	missense	probably damaging	1.00
R5304:Chd1	UTSW	17	15,770,268 (GRCm38)	missense	possibly damaging	0.55
R5304:Chd1	UTSW	17	15,754,951 (GRCm38)	missense	probably benign	0.01
R5307:Chd1	UTSW	17	15,732,570 (GRCm38)	missense	probably damaging	1.00
R5458:Chd1	UTSW	17	15,738,549 (GRCm38)	missense	probably damaging	1.00
R5553:Chd1	UTSW	17	17,385,613 (GRCm38)	missense	probably benign	0.17
R5623:Chd1	UTSW	17	15,754,932 (GRCm38)	missense	probably damaging	1.00
R6022:Chd1	UTSW	17	17,377,773 (GRCm38)	missense	probably benign	0.39
R6137:Chd1	UTSW	17	15,758,688 (GRCm38)	missense	probably damaging	1.00
R6257:Chd1	UTSW	17	15,730,203 (GRCm38)	splice site	probably null
R6373:Chd1	UTSW	17	15,738,636 (GRCm38)	missense	probably damaging	1.00
R6476:Chd1	UTSW	17	17,380,988 (GRCm38)	critical splice donor site	probably null
R6508:Chd1	UTSW	17	15,738,633 (GRCm38)	missense	probably benign	0.31
R6553:Chd1	UTSW	17	15,725,430 (GRCm38)	missense	probably benign	0.00
R6745:Chd1	UTSW	17	17,387,167 (GRCm38)	missense	probably benign	0.08
R7107:Chd1	UTSW	17	15,761,366 (GRCm38)	missense	probably damaging	0.98
R7230:Chd1	UTSW	17	15,706,937 (GRCm38)	splice site	probably null
R7317:Chd1	UTSW	17	15,742,274 (GRCm38)	missense	possibly damaging	0.71
R7341:Chd1	UTSW	17	15,770,237 (GRCm38)	missense	probably damaging	0.99
R7421:Chd1	UTSW	17	15,749,398 (GRCm38)	missense	probably benign	0.03
R7704:Chd1	UTSW	17	15,767,475 (GRCm38)	missense	probably benign
R7763:Chd1	UTSW	17	15,733,041 (GRCm38)	missense	probably damaging	1.00
R8156:Chd1	UTSW	17	15,761,404 (GRCm38)	missense	probably benign
R8194:Chd1	UTSW	17	17,374,475 (GRCm38)	start gained	probably benign
R8261:Chd1	UTSW	17	17,387,542 (GRCm38)	missense	probably benign	0.02
R8338:Chd1	UTSW	17	15,769,980 (GRCm38)	missense	probably damaging	1.00
R8401:Chd1	UTSW	17	15,743,211 (GRCm38)	missense	probably damaging	1.00
R8411:Chd1	UTSW	17	15,762,449 (GRCm38)	missense	probably damaging	0.98
R9067:Chd1	UTSW	17	15,730,845 (GRCm38)	missense	possibly damaging	0.49
R9184:Chd1	UTSW	17	15,742,289 (GRCm38)	missense	possibly damaging	0.71
R9210:Chd1	UTSW	17	15,730,505 (GRCm38)	missense	possibly damaging	0.70
R9212:Chd1	UTSW	17	15,730,505 (GRCm38)	missense	possibly damaging	0.70
R9666:Chd1	UTSW	17	15,735,714 (GRCm38)	missense	probably damaging	1.00
R9673:Chd1	UTSW	17	15,768,761 (GRCm38)	missense	probably benign	0.24
Z1176:Chd1	UTSW	17	15,768,733 (GRCm38)	missense	probably damaging	1.00
Z1176:Chd1	UTSW	17	15,766,347 (GRCm38)	missense	probably damaging	0.98
Z1177:Chd1	UTSW	17	15,747,801 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTATTTTCCAGTATGGCTCAAAGC -3'
(R):5'- TCACATTGACGGTGGCTTGG -3'

Sequencing Primer
(F):5'- GCTCAAAGCAACAGTTTTCTTTG -3'
(R):5'- ATCCTCAGATGAATCAATCTGTCTC -3'

Posted On

2018-05-21