Mutagenetix > Incidental Mutations

Incidental Mutation 'R6364:Chd1l'

513388

Institutional Source

Beutler Lab

Gene Symbol

Chd1l

Ensembl Gene

ENSMUSG00000028089

Gene Name

chromodomain helicase DNA binding protein 1-like

Synonyms

4432404A22Rik, Snf2p

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97560742-97610203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97587167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 399 (A399V)

Ref Sequence

ENSEMBL: ENSMUSP00000029730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029730]

AlphaFold

Q9CXF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029730
AA Change: A399V

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

SMART Domains

Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: A399V

Domain	Start	End	E-Value	Type
DEXDc	36	224	1.83e-38	SMART
HELICc	371	453	7.45e-21	SMART
low complexity region	548	570	N/A	INTRINSIC
coiled coil region	643	680	N/A	INTRINSIC
low complexity region	692	709	N/A	INTRINSIC
PDB:2FG1\|A	718	878	6e-9	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197304

Meta Mutation Damage Score

0.3595

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,721,814	Y234C	possibly damaging	Het
Als2cr12	G	T	1: 58,658,372	A403D	probably damaging	Het
Ambra1	C	A	2: 91,773,316	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,710,494		probably null	Het
Apol11b	A	G	15: 77,638,058	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,932,255		probably null	Het
B3galt1	T	A	2: 68,118,672	S244T	probably damaging	Het
Bace2	A	G	16: 97,413,433	I274V	probably benign	Het
Bfsp2	A	T	9: 103,448,628	V272D	probably damaging	Het
Blm	A	T	7: 80,494,526	C782*	probably null	Het
Cfi	G	A	3: 129,872,846	S406N	probably benign	Het
Cic	C	A	7: 25,272,823	H660N	possibly damaging	Het
Cops3	A	G	11: 59,835,404		probably benign	Het
Dlec1	G	A	9: 119,121,871	V502I	possibly damaging	Het
Epop	A	G	11: 97,628,687	S199P	probably benign	Het
Evi5	G	T	5: 107,842,113	P80Q	probably damaging	Het
Faf1	T	C	4: 109,961,800	V623A	possibly damaging	Het
Fam129c	G	A	8: 71,599,089	G23S	probably benign	Het
Fam83c	T	C	2: 155,834,523	D109G	probably damaging	Het
Fam83d	T	C	2: 158,783,259		probably null	Het
Foxn3	T	C	12: 99,388,693	N71D	probably benign	Het
Gm7298	A	G	6: 121,779,443	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,858,454	E396G	possibly damaging	Het
Htra2	C	A	6: 83,053,046	V311F	probably damaging	Het
Kif6	A	T	17: 49,620,623	T33S	probably benign	Het
Kmt2c	T	C	5: 25,309,636	I3070V	probably null	Het
Krtap5-2	A	T	7: 142,175,063	C293*	probably null	Het
Lrp3	T	A	7: 35,203,709	D404V	probably benign	Het
Mc2r	T	G	18: 68,407,536	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,863,004	M253T	possibly damaging	Het
Nfat5	A	G	8: 107,368,277	N531S	probably benign	Het
Npr2	T	A	4: 43,643,622	I550N	probably damaging	Het
Npy6r	T	C	18: 44,276,511	I333T	possibly damaging	Het
Nup88	C	T	11: 70,947,786	R468Q	probably benign	Het
Nup98	G	A	7: 102,176,315	T422I	probably damaging	Het
Olfr433	T	A	1: 174,042,212	H87Q	possibly damaging	Het
Oraov1	A	G	7: 144,919,268	D105G	probably benign	Het
Otud4	A	G	8: 79,646,341	N96S	probably damaging	Het
Paqr6	T	C	3: 88,365,958	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,188,035	T90S	probably benign	Het
Ptbp2	A	T	3: 119,740,442	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,462,109	G596V	probably damaging	Het
Rdm1	G	A	11: 101,630,242	R94H	probably benign	Het
Rergl	A	T	6: 139,500,748	F28I	probably damaging	Het
Rif1	G	T	2: 52,107,669	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,821,309	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,260,248	Q72*	probably null	Het
Sdk1	G	T	5: 141,962,709	S603I	probably benign	Het
Sdsl	T	C	5: 120,460,609	I147M	probably damaging	Het
Serpina6	T	C	12: 103,654,236	N85D	probably benign	Het
Serpinf2	A	G	11: 75,436,489	I204T	probably damaging	Het
Shank2	A	G	7: 144,410,409	S795G	probably benign	Het
Simc1	C	T	13: 54,524,600	Q254*	probably null	Het
Slc30a3	G	A	5: 31,088,739	P216S	possibly damaging	Het
Smim14	T	A	5: 65,453,296	I53F	probably benign	Het
Sp3	T	C	2: 72,970,941	T243A	probably benign	Het
Srpk2	A	G	5: 23,540,467	F164L	probably damaging	Het
Stard9	T	C	2: 120,713,429	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,294,725	T267A	possibly damaging	Het
Tgm7	T	A	2: 121,096,397	R424*	probably null	Het
Tmbim6	T	C	15: 99,406,185	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,043,761		probably benign	Het
Tomm7	A	G	5: 23,844,030	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,553,810	Y263C	probably damaging	Het
Trim34b	T	C	7: 104,336,526	F456S	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r108	A	G	17: 20,470,998	I421T	probably benign	Het
Wdr43	A	G	17: 71,657,654	E676G	probably damaging	Het
Wdr60	A	T	12: 116,241,732	D412E	probably damaging	Het
Zcchc14	G	T	8: 121,604,859		probably benign	Het
Zfp64	C	A	2: 168,912,266	G25V	probably damaging	Het
Zswim8	C	A	14: 20,713,011	P326H	probably damaging	Het

Other mutations in Chd1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Chd1l	APN	3	97590605	missense	probably damaging	1.00
IGL01349:Chd1l	APN	3	97591234	missense	probably benign	0.07
IGL02115:Chd1l	APN	3	97589904	critical splice donor site	probably null
IGL02418:Chd1l	APN	3	97581099	missense	probably benign	0.39
IGL02717:Chd1l	APN	3	97583907	missense	probably damaging	1.00
IGL03091:Chd1l	APN	3	97563547	missense	probably damaging	1.00
IGL03048:Chd1l	UTSW	3	97597763	missense	probably benign	0.01
R0125:Chd1l	UTSW	3	97587149	missense	probably benign	0.00
R0702:Chd1l	UTSW	3	97566794	missense	probably benign	0.05
R1226:Chd1l	UTSW	3	97562625	nonsense	probably null
R1237:Chd1l	UTSW	3	97582731	missense	probably benign	0.01
R1238:Chd1l	UTSW	3	97582731	missense	probably benign	0.01
R1239:Chd1l	UTSW	3	97582731	missense	probably benign	0.01
R1301:Chd1l	UTSW	3	97603648	splice site	probably benign
R1366:Chd1l	UTSW	3	97581149	missense	probably damaging	0.99
R1444:Chd1l	UTSW	3	97582731	missense	probably benign	0.01
R1445:Chd1l	UTSW	3	97582731	missense	probably benign	0.01
R1500:Chd1l	UTSW	3	97582805	missense	probably benign	0.01
R1619:Chd1l	UTSW	3	97582731	missense	probably benign	0.01
R1640:Chd1l	UTSW	3	97580991	missense	probably benign	0.00
R1762:Chd1l	UTSW	3	97588299	missense	probably damaging	1.00
R2291:Chd1l	UTSW	3	97591283	missense	probably damaging	1.00
R2444:Chd1l	UTSW	3	97590566	missense	probably damaging	1.00
R4008:Chd1l	UTSW	3	97570402	missense	probably benign	0.01
R4011:Chd1l	UTSW	3	97570402	missense	probably benign	0.01
R4106:Chd1l	UTSW	3	97597703	missense	probably benign	0.09
R4857:Chd1l	UTSW	3	97572659	missense	probably benign	0.27
R5008:Chd1l	UTSW	3	97583908	missense	probably damaging	1.00
R5337:Chd1l	UTSW	3	97562616	missense	probably damaging	1.00
R5844:Chd1l	UTSW	3	97572567	missense	probably benign	0.04
R6283:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6298:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6309:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6311:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6321:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6327:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6366:Chd1l	UTSW	3	97594160	missense	probably benign	0.00
R6467:Chd1l	UTSW	3	97563533	missense	probably damaging	0.97
R6483:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6493:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6494:Chd1l	UTSW	3	97587167	missense	probably damaging	1.00
R6585:Chd1l	UTSW	3	97597772	missense	probably damaging	0.96
R6925:Chd1l	UTSW	3	97582826	missense	probably damaging	1.00
R7148:Chd1l	UTSW	3	97591316	missense	probably damaging	1.00
R7244:Chd1l	UTSW	3	97597750	missense	probably damaging	1.00
R8111:Chd1l	UTSW	3	97587210	missense	possibly damaging	0.95
R8346:Chd1l	UTSW	3	97562643	missense	probably benign	0.06
R8852:Chd1l	UTSW	3	97570369	missense	probably benign	0.00
R8860:Chd1l	UTSW	3	97570369	missense	probably benign	0.00
R9164:Chd1l	UTSW	3	97594040	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAACGGCCTCAATTCTCTC -3'
(R):5'- ATTGTCTCCCTAAAGGTAGACTCC -3'

Sequencing Primer
(F):5'- CCTTTTTACCCCTTAGTAATGGC -3'
(R):5'- CCCTTGGGAATGATTAGAATTGG -3'

Posted On

2018-04-27