Mutagenetix > Incidental Mutation

Incidental Mutation 'R6022:Chd1'

479013

Institutional Source

Beutler Lab

Gene Symbol

Chd1

Ensembl Gene

ENSMUSG00000023852

Gene Name

chromodomain helicase DNA binding protein 1

Synonyms

4930525N21Rik

MMRRC Submission

043256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15704967-15772610 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17377773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 41 (I41V)

Ref Sequence

ENSEMBL: ENSMUSP00000024620 (fasta)

Gene Model

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

AlphaFold

P40201

Predicted Effect

probably benign
Transcript: ENSMUST00000024620
AA Change: I41V

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024620
Gene: ENSMUSG00000116564
AA Change: I41V

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 benign
Transcript: ENSMUST00000232396
AA Change: I41V

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,290,759 (GRCm38)	F874C	probably damaging	Het
Adam9	T	C	8: 25,003,305 (GRCm38)	T96A	possibly damaging	Het
Arhgef26	C	T	3: 62,428,939 (GRCm38)	T633M	probably damaging	Het
Atxn2l	A	G	7: 126,496,435 (GRCm38)		probably null	Het
AW209491	C	T	13: 14,637,780 (GRCm38)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,589 (GRCm38)	R267H	probably benign	Het
Caskin1	T	A	17: 24,496,735 (GRCm38)	F158I	probably benign	Het
Ces1g	T	A	8: 93,328,457 (GRCm38)	N204I	probably damaging	Het
Crybg2	A	T	4: 134,074,273 (GRCm38)	K915*	probably null	Het
Dock4	T	C	12: 40,748,110 (GRCm38)	V911A	probably benign	Het
Dok5	A	G	2: 170,879,222 (GRCm38)	Y302C	probably damaging	Het
Dpysl4	A	T	7: 139,086,084 (GRCm38)		probably benign	Het
Dsc3	A	C	18: 19,966,338 (GRCm38)	V707G	probably damaging	Het
Endog	A	G	2: 30,172,909 (GRCm38)	Y187C	possibly damaging	Het
Fcrl5	A	G	3: 87,455,763 (GRCm38)	T526A	probably benign	Het
Gcat	T	C	15: 79,042,278 (GRCm38)	V116A	probably damaging	Het
Herc1	A	G	9: 66,483,685 (GRCm38)	D3975G	probably damaging	Het
Jmy	G	T	13: 93,453,578 (GRCm38)		probably null	Het
Kif1b	T	C	4: 149,198,532 (GRCm38)	I1273V	probably benign	Het
Lrriq1	G	T	10: 103,215,534 (GRCm38)	N452K	possibly damaging	Het
Lrrn3	T	C	12: 41,453,430 (GRCm38)	E296G	probably damaging	Het
Marco	G	A	1: 120,488,565 (GRCm38)	L208F	probably benign	Het
Mme	T	A	3: 63,364,797 (GRCm38)	W606R	probably damaging	Het
Parp14	G	A	16: 35,841,457 (GRCm38)	P1403S	probably benign	Het
Phc3	A	G	3: 30,930,025 (GRCm38)	S647P	probably damaging	Het
Prx	A	G	7: 27,517,573 (GRCm38)	K500E	probably damaging	Het
Ptpn22	T	A	3: 103,886,105 (GRCm38)	V524E	probably benign	Het
Ptprj	A	T	2: 90,471,323 (GRCm38)	I155K	probably benign	Het
Rad51ap2	A	G	12: 11,458,522 (GRCm38)	E815G	probably damaging	Het
Rnf150	T	C	8: 83,042,729 (GRCm38)	V381A	probably benign	Het
Rnf213	A	G	11: 119,486,010 (GRCm38)	K5103R	probably benign	Het
Speer4a2	T	G	5: 26,084,679 (GRCm38)	E250A	probably benign	Het
Tecpr1	A	T	5: 144,199,191 (GRCm38)	W961R	possibly damaging	Het
Tnn	A	T	1: 160,110,358 (GRCm38)	D932E	probably benign	Het
Tram2	G	A	1: 21,079,137 (GRCm38)		probably benign	Het
Trbv26	T	A	6: 41,227,575 (GRCm38)		probably benign	Het
Trmt11	A	G	10: 30,587,501 (GRCm38)	I206T	possibly damaging	Het
Ttk	T	C	9: 83,839,322 (GRCm38)	Y87H	probably damaging	Het
Uri1	A	T	7: 37,961,477 (GRCm38)		probably benign	Het
Vmn1r173	A	G	7: 23,702,835 (GRCm38)	D165G	probably benign	Het
Xpc	A	G	6: 91,499,636 (GRCm38)	S494P	probably damaging	Het
Zfp438	T	A	18: 5,213,419 (GRCm38)	N513I	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
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
R6458:Chd1	UTSW	17	15,730,602 (GRCm38)	missense	probably benign	0.01
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'- AGTGCCCATTAGTGCTGTG -3'
(R):5'- AACCTGTACTTCATGCCCTG -3'

Sequencing Primer
(F):5'- CGATCTATACCTGTTAGGCTACACAG -3'
(R):5'- TGTGCAGGTCAGCTCAACAG -3'

Posted On

2017-06-26