Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01519:Chd1'

89400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chd1

Ensembl Gene

ENSMUSG00000023852

Gene Name

chromodomain helicase DNA binding protein 1

Synonyms

4930525N21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01519

Quality Score

Status

Chromosome

Chromosomal Location

15925229-15992872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17598831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 98 (G98R)

Ref Sequence

ENSEMBL: ENSMUSP00000156350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024620] [ENSMUST00000232199] [ENSMUST00000232396]

AlphaFold

P40201

Predicted Effect

probably damaging
Transcript: ENSMUST00000024620
AA Change: G98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024620
Gene: ENSMUSG00000116564
AA Change: G98R

Domain	Start	End	E-Value	Type
Pfam:Rio2_N	9	91	9.5e-36	PFAM
Pfam:Kdo	105	193	6.3e-8	PFAM
Pfam:RIO1	108	284	1.7e-57	PFAM
Pfam:APH	194	278	3.2e-8	PFAM
low complexity region	326	340	N/A	INTRINSIC
low complexity region	501	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232288

Predicted Effect

probably damaging
Transcript: ENSMUST00000232396
AA Change: G98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap17b	T	C	X: 35,875,503 (GRCm39)	D668G	probably damaging	Het
Btbd3	A	G	2: 138,121,697 (GRCm39)	M127V	probably benign	Het
Btbd9	T	C	17: 30,518,575 (GRCm39)	T462A	possibly damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ckap2	G	A	8: 22,658,914 (GRCm39)	R610C	probably benign	Het
Col18a1	C	T	10: 76,895,157 (GRCm39)	R1168H	probably damaging	Het
Csmd3	G	A	15: 47,460,246 (GRCm39)	T3515I	probably benign	Het
Dcn	A	G	10: 97,319,385 (GRCm39)	Q54R	probably damaging	Het
Dock11	A	G	X: 35,227,006 (GRCm39)	I86V	probably benign	Het
Dram2	T	A	3: 106,478,945 (GRCm39)	I179N	possibly damaging	Het
Fbn1	C	T	2: 125,158,939 (GRCm39)	M2275I	probably benign	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gk2	T	A	5: 97,603,646 (GRCm39)	L397F	probably damaging	Het
Gm8122	T	A	14: 43,092,696 (GRCm39)	I22L	unknown	Het
Golga4	A	G	9: 118,356,160 (GRCm39)	E104G	probably damaging	Het
Herc2	G	A	7: 55,753,698 (GRCm39)	R699H	probably damaging	Het
Hrh1	A	C	6: 114,457,262 (GRCm39)	E181A	probably damaging	Het
Lsm8	T	C	6: 18,851,699 (GRCm39)	F50S	probably damaging	Het
Or1f19	T	A	16: 3,410,398 (GRCm39)	I46N	probably damaging	Het
Pard6g	A	G	18: 80,123,071 (GRCm39)	D35G	probably benign	Het
Plod2	G	A	9: 92,477,348 (GRCm39)	V347I	probably benign	Het
Pramel51	T	C	12: 88,144,331 (GRCm39)	R161G	probably benign	Het
Snx13	T	C	12: 35,188,471 (GRCm39)		probably benign	Het
Taf1	T	A	X: 100,606,412 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,313,634 (GRCm39)	Y351C	probably damaging	Het
Tenm4	C	A	7: 96,544,384 (GRCm39)	D2133E	probably damaging	Het
Thap7	A	C	16: 17,346,609 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,306,919 (GRCm39)	S1505T	probably benign	Het
Trav9-2	C	T	14: 53,828,809 (GRCm39)	R60W	probably damaging	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het

Other mutations in Chd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Chd1	APN	17	15,952,827 (GRCm39)	missense	probably benign	0.37
IGL01356:Chd1	APN	17	15,970,127 (GRCm39)	missense	probably damaging	1.00
IGL01369:Chd1	APN	17	15,975,259 (GRCm39)	missense	probably damaging	0.97
IGL01604:Chd1	APN	17	15,990,359 (GRCm39)	missense	possibly damaging	0.95
IGL01635:Chd1	APN	17	17,598,858 (GRCm39)	missense	probably damaging	1.00
IGL01721:Chd1	APN	17	15,990,430 (GRCm39)	missense	probably damaging	1.00
IGL01959:Chd1	APN	17	15,962,435 (GRCm39)	missense	probably damaging	1.00
IGL02367:Chd1	APN	17	17,610,315 (GRCm39)	missense	probably damaging	0.98
IGL02476:Chd1	APN	17	15,954,535 (GRCm39)	missense	probably damaging	1.00
IGL02756:Chd1	APN	17	15,951,069 (GRCm39)	missense	probably damaging	0.97
IGL02817:Chd1	APN	17	15,969,762 (GRCm39)	missense	possibly damaging	0.92
IGL03084:Chd1	APN	17	15,990,560 (GRCm39)	missense	probably benign	0.22
IGL03108:Chd1	APN	17	15,945,543 (GRCm39)	missense	possibly damaging	0.70
Holly	UTSW	17	15,946,545 (GRCm39)	missense	possibly damaging	0.72
R0053:Chd1	UTSW	17	15,967,451 (GRCm39)	missense	probably damaging	1.00
R0053:Chd1	UTSW	17	15,967,451 (GRCm39)	missense	probably damaging	1.00
R0128:Chd1	UTSW	17	17,613,829 (GRCm39)	missense	probably damaging	1.00
R0197:Chd1	UTSW	17	15,945,693 (GRCm39)	missense	probably benign
R0285:Chd1	UTSW	17	17,594,942 (GRCm39)	splice site	probably benign
R0326:Chd1	UTSW	17	15,988,830 (GRCm39)	missense	probably benign
R0326:Chd1	UTSW	17	15,988,828 (GRCm39)	missense	probably damaging	1.00
R0372:Chd1	UTSW	17	17,607,552 (GRCm39)	missense	probably benign	0.14
R0391:Chd1	UTSW	17	15,970,156 (GRCm39)	missense	probably damaging	1.00
R0486:Chd1	UTSW	17	15,954,604 (GRCm39)	missense	probably damaging	0.99
R0637:Chd1	UTSW	17	15,962,550 (GRCm39)	missense	possibly damaging	0.50
R0675:Chd1	UTSW	17	15,978,523 (GRCm39)	unclassified	probably benign
R0701:Chd1	UTSW	17	15,945,693 (GRCm39)	missense	probably benign
R0788:Chd1	UTSW	17	15,927,376 (GRCm39)	missense	possibly damaging	0.86
R0848:Chd1	UTSW	17	15,990,503 (GRCm39)	missense	probably damaging	1.00
R0883:Chd1	UTSW	17	15,945,693 (GRCm39)	missense	probably benign
R1169:Chd1	UTSW	17	15,955,994 (GRCm39)	missense	probably damaging	1.00
R1218:Chd1	UTSW	17	15,945,574 (GRCm39)	missense	probably damaging	1.00
R1370:Chd1	UTSW	17	17,607,742 (GRCm39)	missense	probably benign	0.00
R1470:Chd1	UTSW	17	15,946,545 (GRCm39)	missense	possibly damaging	0.72
R1470:Chd1	UTSW	17	15,946,545 (GRCm39)	missense	possibly damaging	0.72
R1478:Chd1	UTSW	17	15,959,769 (GRCm39)	missense	probably damaging	0.99
R1752:Chd1	UTSW	17	15,963,494 (GRCm39)	critical splice donor site	probably null
R1759:Chd1	UTSW	17	17,607,533 (GRCm39)	missense	probably benign	0.00
R1767:Chd1	UTSW	17	15,990,565 (GRCm39)	missense	probably damaging	1.00
R1938:Chd1	UTSW	17	15,982,748 (GRCm39)	missense	probably benign	0.39
R2007:Chd1	UTSW	17	15,951,268 (GRCm39)	missense	probably damaging	1.00
R2069:Chd1	UTSW	17	15,962,556 (GRCm39)	missense	probably damaging	1.00
R3771:Chd1	UTSW	17	17,594,913 (GRCm39)	missense	probably damaging	1.00
R3773:Chd1	UTSW	17	17,594,913 (GRCm39)	missense	probably damaging	1.00
R3849:Chd1	UTSW	17	15,952,133 (GRCm39)	missense	probably damaging	1.00
R4241:Chd1	UTSW	17	15,990,289 (GRCm39)	nonsense	probably null
R4242:Chd1	UTSW	17	15,990,289 (GRCm39)	nonsense	probably null
R4354:Chd1	UTSW	17	17,610,263 (GRCm39)	missense	probably benign	0.23
R4468:Chd1	UTSW	17	15,980,657 (GRCm39)	missense	probably damaging	0.99
R4469:Chd1	UTSW	17	15,980,657 (GRCm39)	missense	probably damaging	0.99
R4731:Chd1	UTSW	17	17,598,079 (GRCm39)	missense	probably benign	0.36
R4824:Chd1	UTSW	17	15,953,386 (GRCm39)	missense	probably damaging	1.00
R4840:Chd1	UTSW	17	15,989,016 (GRCm39)	missense	probably damaging	1.00
R4840:Chd1	UTSW	17	15,989,015 (GRCm39)	nonsense	probably null
R4880:Chd1	UTSW	17	17,594,916 (GRCm39)	missense	probably damaging	1.00
R4960:Chd1	UTSW	17	15,962,493 (GRCm39)	missense	probably damaging	0.96
R5071:Chd1	UTSW	17	15,982,667 (GRCm39)	missense	probably benign
R5078:Chd1	UTSW	17	15,946,616 (GRCm39)	missense	possibly damaging	0.93
R5114:Chd1	UTSW	17	15,948,460 (GRCm39)	missense	probably benign	0.25
R5268:Chd1	UTSW	17	15,956,005 (GRCm39)	missense	probably damaging	1.00
R5304:Chd1	UTSW	17	15,990,530 (GRCm39)	missense	possibly damaging	0.55
R5304:Chd1	UTSW	17	15,975,213 (GRCm39)	missense	probably benign	0.01
R5307:Chd1	UTSW	17	15,952,832 (GRCm39)	missense	probably damaging	1.00
R5458:Chd1	UTSW	17	15,958,811 (GRCm39)	missense	probably damaging	1.00
R5553:Chd1	UTSW	17	17,605,875 (GRCm39)	missense	probably benign	0.17
R5623:Chd1	UTSW	17	15,975,194 (GRCm39)	missense	probably damaging	1.00
R6022:Chd1	UTSW	17	17,598,035 (GRCm39)	missense	probably benign	0.39
R6137:Chd1	UTSW	17	15,978,950 (GRCm39)	missense	probably damaging	1.00
R6257:Chd1	UTSW	17	15,950,465 (GRCm39)	splice site	probably null
R6373:Chd1	UTSW	17	15,958,898 (GRCm39)	missense	probably damaging	1.00
R6458:Chd1	UTSW	17	15,950,864 (GRCm39)	missense	probably benign	0.01
R6476:Chd1	UTSW	17	17,601,250 (GRCm39)	critical splice donor site	probably null
R6508:Chd1	UTSW	17	15,958,895 (GRCm39)	missense	probably benign	0.31
R6553:Chd1	UTSW	17	15,945,692 (GRCm39)	missense	probably benign	0.00
R6745:Chd1	UTSW	17	17,607,429 (GRCm39)	missense	probably benign	0.08
R7107:Chd1	UTSW	17	15,981,628 (GRCm39)	missense	probably damaging	0.98
R7230:Chd1	UTSW	17	15,927,199 (GRCm39)	splice site	probably null
R7317:Chd1	UTSW	17	15,962,536 (GRCm39)	missense	possibly damaging	0.71
R7341:Chd1	UTSW	17	15,990,499 (GRCm39)	missense	probably damaging	0.99
R7421:Chd1	UTSW	17	15,969,660 (GRCm39)	missense	probably benign	0.03
R7704:Chd1	UTSW	17	15,987,737 (GRCm39)	missense	probably benign
R7763:Chd1	UTSW	17	15,953,303 (GRCm39)	missense	probably damaging	1.00
R8156:Chd1	UTSW	17	15,981,666 (GRCm39)	missense	probably benign
R8194:Chd1	UTSW	17	17,594,737 (GRCm39)	start gained	probably benign
R8261:Chd1	UTSW	17	17,607,804 (GRCm39)	missense	probably benign	0.02
R8338:Chd1	UTSW	17	15,990,242 (GRCm39)	missense	probably damaging	1.00
R8401:Chd1	UTSW	17	15,963,473 (GRCm39)	missense	probably damaging	1.00
R8411:Chd1	UTSW	17	15,982,711 (GRCm39)	missense	probably damaging	0.98
R9067:Chd1	UTSW	17	15,951,107 (GRCm39)	missense	possibly damaging	0.49
R9184:Chd1	UTSW	17	15,962,551 (GRCm39)	missense	possibly damaging	0.71
R9210:Chd1	UTSW	17	15,950,767 (GRCm39)	missense	possibly damaging	0.70
R9212:Chd1	UTSW	17	15,950,767 (GRCm39)	missense	possibly damaging	0.70
R9666:Chd1	UTSW	17	15,955,976 (GRCm39)	missense	probably damaging	1.00
R9673:Chd1	UTSW	17	15,989,023 (GRCm39)	missense	probably benign	0.24
Z1176:Chd1	UTSW	17	15,988,995 (GRCm39)	missense	probably damaging	1.00
Z1176:Chd1	UTSW	17	15,986,609 (GRCm39)	missense	probably damaging	0.98
Z1177:Chd1	UTSW	17	15,968,063 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03