Mutagenetix > Incidental Mutation

Incidental Mutation 'R0702:Chd1l'

63044

Institutional Source

Beutler Lab

Gene Symbol

Chd1l

Ensembl Gene

ENSMUSG00000028089

Gene Name

chromodomain helicase DNA binding protein 1-like

Synonyms

Snf2p, 4432404A22Rik

MMRRC Submission

038885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R0702 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

97468058-97517519 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97474110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 791 (D791N)

Ref Sequence

ENSEMBL: ENSMUSP00000029730 (fasta)

Gene Model

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

AlphaFold

Q9CXF7

Predicted Effect

probably benign
Transcript: ENSMUST00000029730
AA Change: D791N

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: D791N

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: ENSMUST00000195962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197304

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.7%

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	A	T	8: 123,616,505 (GRCm39)	I2428N	probably damaging	Het
Ano9	A	G	7: 140,687,195 (GRCm39)	V348A	probably damaging	Het
Cfap69	A	G	5: 5,694,465 (GRCm39)	I132T	probably benign	Het
Chl1	A	G	6: 103,683,583 (GRCm39)	Y819C	probably damaging	Het
Col5a2	T	A	1: 45,419,291 (GRCm39)	D1263V	possibly damaging	Het
Csnk1g1	C	T	9: 65,917,775 (GRCm39)	R45W	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dgat2l6	G	A	X: 99,586,287 (GRCm39)	V180M	probably damaging	Het
Fscb	G	A	12: 64,518,775 (GRCm39)	P897L	unknown	Het
Herc6	T	C	6: 57,558,092 (GRCm39)	L24P	probably damaging	Het
Il23r	T	A	6: 67,443,269 (GRCm39)	Q278L	probably damaging	Het
Kpna4	A	T	3: 68,991,438 (GRCm39)	V361D	probably damaging	Het
Muc1	A	G	3: 89,137,527 (GRCm39)	D123G	probably benign	Het
Notch4	A	G	17: 34,794,177 (GRCm39)	Y722C	probably damaging	Het
Ntng1	G	C	3: 109,779,570 (GRCm39)	R336G	probably damaging	Het
Or5ac17	T	C	16: 59,036,062 (GRCm39)	M305V	probably benign	Het
Pgbd5	C	T	8: 125,100,994 (GRCm39)	V421M	probably benign	Het
Prkdc	A	G	16: 15,603,835 (GRCm39)	T2950A	possibly damaging	Het
Proser3	A	T	7: 30,238,955 (GRCm39)	D630E	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Serpina3g	A	G	12: 104,207,512 (GRCm39)	E225G	probably damaging	Het
Slc2a13	T	C	15: 91,205,870 (GRCm39)	D439G	probably benign	Het
Srebf2	T	C	15: 82,061,610 (GRCm39)	L352P	probably damaging	Het
Trpc5	A	G	X: 143,194,735 (GRCm39)	V590A	probably damaging	Het
Ubqln2	A	T	X: 152,282,665 (GRCm39)	M406L	possibly damaging	Het

Other mutations in Chd1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Chd1l	APN	3	97,497,921 (GRCm39)	missense	probably damaging	1.00
IGL01349:Chd1l	APN	3	97,498,550 (GRCm39)	missense	probably benign	0.07
IGL02115:Chd1l	APN	3	97,497,220 (GRCm39)	critical splice donor site	probably null
IGL02418:Chd1l	APN	3	97,488,415 (GRCm39)	missense	probably benign	0.39
IGL02717:Chd1l	APN	3	97,491,223 (GRCm39)	missense	probably damaging	1.00
IGL03091:Chd1l	APN	3	97,470,863 (GRCm39)	missense	probably damaging	1.00
IGL03048:Chd1l	UTSW	3	97,505,079 (GRCm39)	missense	probably benign	0.01
R0125:Chd1l	UTSW	3	97,494,465 (GRCm39)	missense	probably benign	0.00
R1226:Chd1l	UTSW	3	97,469,941 (GRCm39)	nonsense	probably null
R1237:Chd1l	UTSW	3	97,490,047 (GRCm39)	missense	probably benign	0.01
R1238:Chd1l	UTSW	3	97,490,047 (GRCm39)	missense	probably benign	0.01
R1239:Chd1l	UTSW	3	97,490,047 (GRCm39)	missense	probably benign	0.01
R1301:Chd1l	UTSW	3	97,510,964 (GRCm39)	splice site	probably benign
R1366:Chd1l	UTSW	3	97,488,465 (GRCm39)	missense	probably damaging	0.99
R1444:Chd1l	UTSW	3	97,490,047 (GRCm39)	missense	probably benign	0.01
R1445:Chd1l	UTSW	3	97,490,047 (GRCm39)	missense	probably benign	0.01
R1500:Chd1l	UTSW	3	97,490,121 (GRCm39)	missense	probably benign	0.01
R1619:Chd1l	UTSW	3	97,490,047 (GRCm39)	missense	probably benign	0.01
R1640:Chd1l	UTSW	3	97,488,307 (GRCm39)	missense	probably benign	0.00
R1762:Chd1l	UTSW	3	97,495,615 (GRCm39)	missense	probably damaging	1.00
R2291:Chd1l	UTSW	3	97,498,599 (GRCm39)	missense	probably damaging	1.00
R2444:Chd1l	UTSW	3	97,497,882 (GRCm39)	missense	probably damaging	1.00
R4008:Chd1l	UTSW	3	97,477,718 (GRCm39)	missense	probably benign	0.01
R4011:Chd1l	UTSW	3	97,477,718 (GRCm39)	missense	probably benign	0.01
R4106:Chd1l	UTSW	3	97,505,019 (GRCm39)	missense	probably benign	0.09
R4857:Chd1l	UTSW	3	97,479,975 (GRCm39)	missense	probably benign	0.27
R5008:Chd1l	UTSW	3	97,491,224 (GRCm39)	missense	probably damaging	1.00
R5337:Chd1l	UTSW	3	97,469,932 (GRCm39)	missense	probably damaging	1.00
R5844:Chd1l	UTSW	3	97,479,883 (GRCm39)	missense	probably benign	0.04
R6283:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6298:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6309:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6311:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6321:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6327:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6364:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6366:Chd1l	UTSW	3	97,501,476 (GRCm39)	missense	probably benign	0.00
R6467:Chd1l	UTSW	3	97,470,849 (GRCm39)	missense	probably damaging	0.97
R6483:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6493:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6494:Chd1l	UTSW	3	97,494,483 (GRCm39)	missense	probably damaging	1.00
R6585:Chd1l	UTSW	3	97,505,088 (GRCm39)	missense	probably damaging	0.96
R6925:Chd1l	UTSW	3	97,490,142 (GRCm39)	missense	probably damaging	1.00
R7148:Chd1l	UTSW	3	97,498,632 (GRCm39)	missense	probably damaging	1.00
R7244:Chd1l	UTSW	3	97,505,066 (GRCm39)	missense	probably damaging	1.00
R8111:Chd1l	UTSW	3	97,494,526 (GRCm39)	missense	possibly damaging	0.95
R8346:Chd1l	UTSW	3	97,469,959 (GRCm39)	missense	probably benign	0.06
R8852:Chd1l	UTSW	3	97,477,685 (GRCm39)	missense	probably benign	0.00
R8860:Chd1l	UTSW	3	97,477,685 (GRCm39)	missense	probably benign	0.00
R9164:Chd1l	UTSW	3	97,501,356 (GRCm39)	missense	probably benign	0.00
R9612:Chd1l	UTSW	3	97,488,463 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACCTAACAAGCTACTGTGCTCCTG -3'
(R):5'- GAGGTGAAGTGCCACACCTAATCG -3'

Sequencing Primer
(F):5'- GCAGAGGCTGGGCAGTG -3'
(R):5'- ggaagtcaaggcaggagg -3'

Posted On

2013-07-30