Mutagenetix > Incidental Mutations

Incidental Mutation 'R1169:Chd1'

101565

Institutional Source

Beutler Lab

Gene Symbol

Chd1

Ensembl Gene

ENSMUSG00000023852

Gene Name

chromodomain helicase DNA binding protein 1

Synonyms

4930525N21Rik

MMRRC Submission

039242-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15704967-15772610 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15735732 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 531 (F531Y)

Ref Sequence

ENSEMBL: ENSMUSP00000024627 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024627
AA Change: F531Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: F531Y

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

possibly damaging
Transcript: ENSMUST00000173311
AA Change: F531Y

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134091
Gene: ENSMUSG00000023852
AA Change: F531Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174461

SMART Domains

Protein: ENSMUSP00000134718
Gene: ENSMUSG00000023852

Domain	Start	End	E-Value	Type
Pfam:SNF2_N	1	148	3.6e-34	PFAM
low complexity region	172	184	N/A	INTRINSIC
HELICc	201	285	8.48e-25	SMART
Blast:DEXDc	340	516	1e-47	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	G	2: 23,256,982	K275E	possibly damaging	Het
Abhd17a	T	C	10: 80,583,947	E275G	probably damaging	Het
Adam10	T	A	9: 70,746,292	I123N	probably damaging	Het
Adam8	A	T	7: 139,983,929	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,494,116	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,454,252	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468	S389P	possibly damaging	Het
C4b	A	T	17: 34,742,972	L100Q	probably benign	Het
Cacul1	G	A	19: 60,580,408	A104V	probably damaging	Het
Camsap3	T	C	8: 3,603,866	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454	V61A	possibly damaging	Het
Clec2h	C	T	6: 128,674,795	Q156*	probably null	Het
Clip2	T	A	5: 134,492,250	E978V	probably benign	Het
Cnpy2	T	G	10: 128,323,596	L34R	probably damaging	Het
Cog6	A	T	3: 53,013,844	C114S	probably benign	Het
Col6a3	A	T	1: 90,822,014	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,896,974		probably null	Het
Dmbt1	G	A	7: 131,074,524		probably null	Het
Dok1	A	G	6: 83,032,048	F218L	possibly damaging	Het
Dph7	T	A	2: 24,966,571	N178K	probably benign	Het
Enam	A	T	5: 88,503,258	E800D	probably damaging	Het
Fads3	A	T	19: 10,054,099	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,155,976	H265R	probably benign	Het
Gli1	T	A	10: 127,338,451	S24C	probably damaging	Het
Gm4894	T	A	9: 49,274,226	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,574,366	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,333,357	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,498,124	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,705,108	F285C	probably benign	Het
Igf1r	G	T	7: 68,165,127	V259L	probably benign	Het
Igf2bp2	A	T	16: 22,078,730	Y244*	probably null	Het
Ighg2c	A	T	12: 113,285,952		probably benign	Het
Ighv8-14	A	T	12: 115,808,455		probably null	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itsn2	A	G	12: 4,639,694	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,350,271	E38D	possibly damaging	Het
Krt42	T	G	11: 100,263,345		probably null	Het
Lman1l	T	C	9: 57,609,995	T369A	probably damaging	Het
Lpo	T	C	11: 87,817,317	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,900,930	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,083,264	D99V	probably damaging	Het
Lyplal1	T	C	1: 186,114,334	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,143,283	Q793*	probably null	Het
Myh10	T	G	11: 68,762,841	M346R	probably damaging	Het
Nav1	G	T	1: 135,455,205	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,968,323	V1642A	probably benign	Het
Olfr1066	A	G	2: 86,455,587	I228T	possibly damaging	Het
Olfr1104	A	G	2: 87,021,717	F276L	probably damaging	Het
Olfr1428	C	T	19: 12,109,489	R19H	probably benign	Het
Olfr870	T	C	9: 20,171,058	N171S	probably benign	Het
Orm3	G	A	4: 63,357,848	V166M	probably damaging	Het
Oxct1	T	A	15: 4,091,226	I264N	probably damaging	Het
Paox	G	A	7: 140,126,331	V55I	probably benign	Het
Pde4d	C	A	13: 109,950,928		probably null	Het
Pnliprp1	A	G	19: 58,734,951	N258S	probably damaging	Het
Prl7b1	C	A	13: 27,606,904	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,667,612	C261F	probably benign	Het
Rho	C	G	6: 115,932,238	N78K	probably damaging	Het
Rnf17	A	G	14: 56,514,165	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,733,014	T2922I	probably benign	Het
Saxo2	A	C	7: 82,635,171	F160V	possibly damaging	Het
Sbf2	A	T	7: 110,310,184	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,298,233	V280E	probably benign	Het
Sgsm1	T	C	5: 113,279,485	D90G	probably damaging	Het
Siglec1	A	T	2: 131,074,827	D1169E	probably damaging	Het
Sim1	T	A	10: 50,981,522	V456E	probably benign	Het
Skint8	T	A	4: 111,928,513	I52N	possibly damaging	Het
Slc27a1	C	A	8: 71,580,653	R280S	probably benign	Het
Slc9a3	G	A	13: 74,150,743	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,027,925	V936L	possibly damaging	Het
Syce1	A	G	7: 140,778,207	F255S	probably benign	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem200a	T	A	10: 25,994,348	I8F	probably damaging	Het
Trip6	T	C	5: 137,311,920	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,751,309	N177K	probably benign	Het
Wdr66	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,254,610		probably benign	Het

Other mutations in Chd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Chd1	APN	17	15732565	missense	probably benign	0.37
IGL01356:Chd1	APN	17	15749865	missense	probably damaging	1.00
IGL01369:Chd1	APN	17	15754997	missense	probably damaging	0.97
IGL01519:Chd1	APN	17	17378569	missense	probably damaging	1.00
IGL01604:Chd1	APN	17	15770097	missense	possibly damaging	0.95
IGL01635:Chd1	APN	17	17378596	missense	probably damaging	1.00
IGL01721:Chd1	APN	17	15770168	missense	probably damaging	1.00
IGL01959:Chd1	APN	17	15742173	missense	probably damaging	1.00
IGL02367:Chd1	APN	17	17390053	missense	probably damaging	0.98
IGL02476:Chd1	APN	17	15734273	missense	probably damaging	1.00
IGL02756:Chd1	APN	17	15730807	missense	probably damaging	0.97
IGL02817:Chd1	APN	17	15749500	missense	possibly damaging	0.92
IGL03084:Chd1	APN	17	15770298	missense	probably benign	0.22
IGL03108:Chd1	APN	17	15725281	missense	possibly damaging	0.70
Holly	UTSW	17	15726283	missense	possibly damaging	0.72
R0053:Chd1	UTSW	17	15747189	missense	probably damaging	1.00
R0053:Chd1	UTSW	17	15747189	missense	probably damaging	1.00
R0128:Chd1	UTSW	17	17393567	missense	probably damaging	1.00
R0197:Chd1	UTSW	17	15725431	missense	probably benign
R0285:Chd1	UTSW	17	17374680	splice site	probably benign
R0326:Chd1	UTSW	17	15768566	missense	probably damaging	1.00
R0326:Chd1	UTSW	17	15768568	missense	probably benign
R0372:Chd1	UTSW	17	17387290	missense	probably benign	0.14
R0391:Chd1	UTSW	17	15749894	missense	probably damaging	1.00
R0486:Chd1	UTSW	17	15734342	missense	probably damaging	0.99
R0637:Chd1	UTSW	17	15742288	missense	possibly damaging	0.50
R0675:Chd1	UTSW	17	15758261	unclassified	probably benign
R0701:Chd1	UTSW	17	15725431	missense	probably benign
R0788:Chd1	UTSW	17	15707114	missense	possibly damaging	0.86
R0848:Chd1	UTSW	17	15770241	missense	probably damaging	1.00
R0883:Chd1	UTSW	17	15725431	missense	probably benign
R1218:Chd1	UTSW	17	15725312	missense	probably damaging	1.00
R1370:Chd1	UTSW	17	17387480	missense	probably benign	0.00
R1470:Chd1	UTSW	17	15726283	missense	possibly damaging	0.72
R1470:Chd1	UTSW	17	15726283	missense	possibly damaging	0.72
R1478:Chd1	UTSW	17	15739507	missense	probably damaging	0.99
R1752:Chd1	UTSW	17	15743232	critical splice donor site	probably null
R1759:Chd1	UTSW	17	17387271	missense	probably benign	0.00
R1767:Chd1	UTSW	17	15770303	missense	probably damaging	1.00
R1938:Chd1	UTSW	17	15762486	missense	probably benign	0.39
R2007:Chd1	UTSW	17	15731006	missense	probably damaging	1.00
R2069:Chd1	UTSW	17	15742294	missense	probably damaging	1.00
R3771:Chd1	UTSW	17	17374651	missense	probably damaging	1.00
R3773:Chd1	UTSW	17	17374651	missense	probably damaging	1.00
R3849:Chd1	UTSW	17	15731871	missense	probably damaging	1.00
R4241:Chd1	UTSW	17	15770027	nonsense	probably null
R4242:Chd1	UTSW	17	15770027	nonsense	probably null
R4354:Chd1	UTSW	17	17390001	missense	probably benign	0.23
R4468:Chd1	UTSW	17	15760395	missense	probably damaging	0.99
R4469:Chd1	UTSW	17	15760395	missense	probably damaging	0.99
R4731:Chd1	UTSW	17	17377817	missense	probably benign	0.36
R4824:Chd1	UTSW	17	15733124	missense	probably damaging	1.00
R4840:Chd1	UTSW	17	15768753	nonsense	probably null
R4840:Chd1	UTSW	17	15768754	missense	probably damaging	1.00
R4880:Chd1	UTSW	17	17374654	missense	probably damaging	1.00
R4960:Chd1	UTSW	17	15742231	missense	probably damaging	0.96
R5071:Chd1	UTSW	17	15762405	missense	probably benign
R5078:Chd1	UTSW	17	15726354	missense	possibly damaging	0.93
R5114:Chd1	UTSW	17	15728198	missense	probably benign	0.25
R5268:Chd1	UTSW	17	15735743	missense	probably damaging	1.00
R5304:Chd1	UTSW	17	15754951	missense	probably benign	0.01
R5304:Chd1	UTSW	17	15770268	missense	possibly damaging	0.55
R5307:Chd1	UTSW	17	15732570	missense	probably damaging	1.00
R5458:Chd1	UTSW	17	15738549	missense	probably damaging	1.00
R5553:Chd1	UTSW	17	17385613	missense	probably benign	0.17
R5623:Chd1	UTSW	17	15754932	missense	probably damaging	1.00
R6022:Chd1	UTSW	17	17377773	missense	probably benign	0.39
R6137:Chd1	UTSW	17	15758688	missense	probably damaging	1.00
R6257:Chd1	UTSW	17	15730203	splice site	probably null
R6373:Chd1	UTSW	17	15738636	missense	probably damaging	1.00
R6458:Chd1	UTSW	17	15730602	missense	probably benign	0.01
R6476:Chd1	UTSW	17	17380988	critical splice donor site	probably null
R6508:Chd1	UTSW	17	15738633	missense	probably benign	0.31
R6553:Chd1	UTSW	17	15725430	missense	probably benign	0.00
R6745:Chd1	UTSW	17	17387167	missense	probably benign	0.08
R7107:Chd1	UTSW	17	15761366	missense	probably damaging	0.98
R7230:Chd1	UTSW	17	15706937	splice site	probably null
R7317:Chd1	UTSW	17	15742274	missense	possibly damaging	0.71
R7341:Chd1	UTSW	17	15770237	missense	probably damaging	0.99
R7421:Chd1	UTSW	17	15749398	missense	probably benign	0.03
R7704:Chd1	UTSW	17	15767475	missense	probably benign
R7763:Chd1	UTSW	17	15733041	missense	probably damaging	1.00
R8156:Chd1	UTSW	17	15761404	missense	probably benign
R8194:Chd1	UTSW	17	17374475	start gained	probably benign
R8261:Chd1	UTSW	17	17387542	missense	probably benign	0.02
R8338:Chd1	UTSW	17	15769980	missense	probably damaging	1.00
R8401:Chd1	UTSW	17	15743211	missense	probably damaging	1.00
R8411:Chd1	UTSW	17	15762449	missense	probably damaging	0.98
Z1176:Chd1	UTSW	17	15766347	missense	probably damaging	0.98
Z1176:Chd1	UTSW	17	15768733	missense	probably damaging	1.00
Z1177:Chd1	UTSW	17	15747801	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15