Mutagenetix > Incidental Mutation

Incidental Mutation 'R6467:Chd1l'

516625

Institutional Source

Beutler Lab

Gene Symbol

Chd1l

Ensembl Gene

ENSMUSG00000028089

Gene Name

chromodomain helicase DNA binding protein 1-like

Synonyms

Snf2p, 4432404A22Rik

MMRRC Submission

044600-MU

Accession Numbers

Essential gene?

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

Stock #

R6467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97468058-97517519 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97470849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 815 (N815K)

Ref Sequence

ENSEMBL: ENSMUSP00000029730 (fasta)

Gene Model

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

AlphaFold

Q9CXF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029730
AA Change: N815K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: N815K

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

Meta Mutation Damage Score

0.0735

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	C	15: 101,092,722 (GRCm39)	W122R	possibly damaging	Het
Adgrv1	C	T	13: 81,592,657 (GRCm39)	R4294H	probably benign	Het
Afdn	A	G	17: 14,024,315 (GRCm39)	T74A	probably damaging	Het
Aff3	T	A	1: 38,247,098 (GRCm39)	D829V	probably benign	Het
Akr1c12	T	C	13: 4,325,772 (GRCm39)	Q107R	probably benign	Het
Apc	T	A	18: 34,402,252 (GRCm39)	F131I	probably benign	Het
Atosb	A	T	4: 43,033,687 (GRCm39)	F489I	probably damaging	Het
Atp13a1	T	A	8: 70,259,424 (GRCm39)	L1036H	probably damaging	Het
BC035044	A	C	6: 128,867,855 (GRCm39)		probably benign	Het
C1rl	A	G	6: 124,485,535 (GRCm39)	D302G	probably benign	Het
C2cd6	A	C	1: 59,117,093 (GRCm39)	D133E	probably benign	Het
Cacna1c	T	A	6: 118,629,671 (GRCm39)	Y1061F	probably damaging	Het
Cav1	A	G	6: 17,308,034 (GRCm39)	D62G	probably damaging	Het
Ccdc77	T	C	6: 120,327,242 (GRCm39)	M68V	probably damaging	Het
Cd55	A	T	1: 130,375,348 (GRCm39)		probably benign	Het
Cdc27	C	A	11: 104,413,602 (GRCm39)	A380S	probably damaging	Het
Cenpb	A	T	2: 131,021,477 (GRCm39)	I107K	probably damaging	Het
Cep135	T	G	5: 76,769,187 (GRCm39)	H612Q	possibly damaging	Het
Cldn20	C	T	17: 3,582,992 (GRCm39)	T55M	possibly damaging	Het
Depdc1a	A	T	3: 159,221,679 (GRCm39)	I208L	probably benign	Het
Dgkb	C	T	12: 38,134,223 (GRCm39)	A43V	possibly damaging	Het
Dgkb	C	T	12: 38,654,104 (GRCm39)	T741I	probably damaging	Het
Dhx16	A	G	17: 36,197,076 (GRCm39)	N653S	probably damaging	Het
Dnah5	T	A	15: 28,438,329 (GRCm39)	S3987T	probably benign	Het
Dnai4	T	C	4: 102,906,758 (GRCm39)	D685G	probably damaging	Het
Dst	T	A	1: 34,334,277 (GRCm39)	I4835N	probably damaging	Het
Esrrb	A	G	12: 86,561,114 (GRCm39)	I288V	probably damaging	Het
Fnta	C	T	8: 26,497,341 (GRCm39)	W169*	probably null	Het
Golga4	T	C	9: 118,365,860 (GRCm39)	L304P	probably damaging	Het
Hace1	A	G	10: 45,466,362 (GRCm39)		probably null	Het
Ino80b	G	T	6: 83,101,112 (GRCm39)		probably null	Het
Kcmf1	G	A	6: 72,820,082 (GRCm39)	R306C	probably damaging	Het
Lrrc46	G	A	11: 96,927,305 (GRCm39)	T92I	possibly damaging	Het
Man2b1	T	C	8: 85,824,076 (GRCm39)	V991A	possibly damaging	Het
Mga	A	G	2: 119,776,776 (GRCm39)	N1770S	probably damaging	Het
Mgat4e	T	C	1: 134,468,944 (GRCm39)	T367A	probably benign	Het
Mtr	A	G	13: 12,202,992 (GRCm39)	S1204P	probably damaging	Het
Myo15a	G	A	11: 60,417,487 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,560,585 (GRCm39)	S74P	probably damaging	Het
Noct	T	C	3: 51,157,508 (GRCm39)	V282A	possibly damaging	Het
Nol11	A	T	11: 107,071,912 (GRCm39)	I227K	possibly damaging	Het
Nsd3	T	A	8: 26,130,646 (GRCm39)	S4T	probably damaging	Het
Or5m10b	T	A	2: 85,699,714 (GRCm39)	Y259*	probably null	Het
Or5p64	A	G	7: 107,855,109 (GRCm39)	S79P	probably damaging	Het
Pds5a	T	A	5: 65,809,782 (GRCm39)	L393F	probably damaging	Het
Prex2	C	T	1: 11,336,259 (GRCm39)	R1486C	probably damaging	Het
Rc3h2	T	C	2: 37,272,028 (GRCm39)	T768A	probably damaging	Het
Rin3	A	T	12: 102,335,584 (GRCm39)	E418D	probably benign	Het
Rnf214	G	T	9: 45,778,886 (GRCm39)	T586N	probably damaging	Het
Samd4b	A	G	7: 28,101,285 (GRCm39)	S667P	probably damaging	Het
Sec14l2	T	C	11: 4,061,161 (GRCm39)	Y100C	probably damaging	Het
Slc46a2	T	C	4: 59,914,077 (GRCm39)	E282G	probably benign	Het
Themis	A	C	10: 28,657,762 (GRCm39)	N110T	possibly damaging	Het
Tln1	C	A	4: 43,543,165 (GRCm39)	S1333I	probably benign	Het
Tmem53	T	C	4: 117,125,625 (GRCm39)	V224A	possibly damaging	Het
Tmtc4	T	A	14: 123,163,391 (GRCm39)	K664N	possibly damaging	Het
Tnni3k	T	C	3: 154,674,922 (GRCm39)	D201G	probably damaging	Het
Tnxb	A	G	17: 34,912,898 (GRCm39)	E1681G	probably damaging	Het
Trhde	A	T	10: 114,340,103 (GRCm39)	D567E	probably damaging	Het
Tsc2	T	C	17: 24,828,101 (GRCm39)	M788V	probably benign	Het
Ube3a	A	G	7: 58,926,650 (GRCm39)	Y476C	probably damaging	Het
Ubiad1	T	C	4: 148,520,682 (GRCm39)	N314S	possibly damaging	Het
Unc79	T	A	12: 103,139,771 (GRCm39)	N2375K	probably damaging	Het
Vmn2r107	A	T	17: 20,595,939 (GRCm39)	I831F	probably damaging	Het
Vwa3b	T	A	1: 37,124,367 (GRCm39)	C322S	probably benign	Het
Wnk1	A	T	6: 119,939,916 (GRCm39)	H238Q	probably benign	Het
Wnk2	A	G	13: 49,300,081 (GRCm39)	Y210H	probably damaging	Het
Wwc2	T	C	8: 48,304,943 (GRCm39)	D894G	unknown	Het
Yes1	T	A	5: 32,810,381 (GRCm39)	F180Y	probably damaging	Het
Yju2b	T	C	8: 84,985,318 (GRCm39)	E317G	probably benign	Het
Zbtb46	T	C	2: 181,033,062 (GRCm39)	Y533C	probably damaging	Het
Zfp57	T	C	17: 37,316,942 (GRCm39)	S7P	possibly damaging	Het
Zzef1	T	C	11: 72,802,090 (GRCm39)		probably null	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
R0702:Chd1l	UTSW	3	97,474,110 (GRCm39)	missense	probably benign	0.05
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
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'- ATTTTACCAAGCACATCAAGGGG -3'
(R):5'- TACCATGACATAAGACGGGCAG -3'

Sequencing Primer
(F):5'- CAAGGGGAGTCTTGACATTTCG -3'
(R):5'- CATGCCATACATTGTAGGATACTGC -3'

Posted On

2018-05-21