Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Chd1'

488429

Institutional Source

Beutler Lab

Gene Symbol

Chd1

Ensembl Gene

ENSMUSG00000023852

Gene Name

chromodomain helicase DNA binding protein 1

Synonyms

4930525N21Rik

MMRRC Submission

044284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15704967-15772610 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15758688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1271 (W1271R)

Ref Sequence

ENSEMBL: ENSMUSP00000024627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024627]

AlphaFold

P40201

Predicted Effect

probably damaging
Transcript: ENSMUST00000024627
AA Change: W1271R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: W1271R

Domain	Start	End	E-Value	Type
low complexity region	17	67	N/A	INTRINSIC
low complexity region	105	115	N/A	INTRINSIC
low complexity region	116	136	N/A	INTRINSIC
low complexity region	151	175	N/A	INTRINSIC
low complexity region	213	230	N/A	INTRINSIC
CHROMO	268	355	6.43e-20	SMART
CHROMO	385	443	1.19e-14	SMART
DEXDc	475	672	3.44e-34	SMART
Blast:DEXDc	692	786	2e-54	BLAST
low complexity region	787	799	N/A	INTRINSIC
HELICc	816	900	8.48e-25	SMART
Blast:DEXDc	955	1234	1e-112	BLAST
PDB:4B4C\|A	1119	1320	1e-132	PDB
low complexity region	1325	1348	N/A	INTRINSIC
low complexity region	1377	1388	N/A	INTRINSIC
DUF4208	1396	1500	5.54e-51	SMART
low complexity region	1507	1516	N/A	INTRINSIC
low complexity region	1538	1549	N/A	INTRINSIC
low complexity region	1626	1650	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000173040
AA Change: W138R

SMART Domains

Protein: ENSMUSP00000133406
Gene: ENSMUSG00000023852
AA Change: W138R

Domain	Start	End	E-Value	Type
Blast:DEXDc	2	102	5e-58	BLAST
PDB:4B4C\|A	2	153	1e-108	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000174461

SMART Domains

Protein: ENSMUSP00000134718
Gene: ENSMUSG00000023852

Domain	Start	End	E-Value	Type
Pfam:SNF2_N	1	148	3.6e-34	PFAM
low complexity region	172	184	N/A	INTRINSIC
HELICc	201	285	8.48e-25	SMART
Blast:DEXDc	340	516	1e-47	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	T	19: 8,740,784 (GRCm38)	D6V	probably damaging	Het
2310057M21Rik	G	T	7: 131,357,613 (GRCm38)	H165Q	probably damaging	Het
Akap13	T	A	7: 75,677,416 (GRCm38)	F721Y	probably damaging	Het
Akap6	A	T	12: 53,140,354 (GRCm38)	D1517V	probably damaging	Het
Amigo3	T	A	9: 108,053,728 (GRCm38)	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,201,411 (GRCm38)	N34K	probably damaging	Het
Cacnb1	A	C	11: 98,005,782 (GRCm38)	V351G	probably damaging	Het
Casp9	T	A	4: 141,805,349 (GRCm38)		probably null	Het
Ccdc51	C	T	9: 109,089,415 (GRCm38)	T24I	probably benign	Het
Cdh23	T	A	10: 60,434,512 (GRCm38)	Y618F	probably damaging	Het
Dars	T	C	1: 128,368,439 (GRCm38)	T386A	probably benign	Het
Dchs1	T	A	7: 105,765,106 (GRCm38)	D834V	probably damaging	Het
Dgkd	T	A	1: 87,936,381 (GRCm38)	V933E	possibly damaging	Het
Dnah17	A	G	11: 118,025,654 (GRCm38)	F4203S	probably damaging	Het
Fancm	T	C	12: 65,130,382 (GRCm38)	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,008,669 (GRCm38)	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,276,222 (GRCm38)	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,559,206 (GRCm38)	S237P	probably damaging	Het
Frem3	T	C	8: 80,615,047 (GRCm38)	I1323T	probably benign	Het
Grin2a	A	G	16: 9,653,449 (GRCm38)	F652L	probably benign	Het
Grin2b	T	A	6: 135,923,458 (GRCm38)	M142L	possibly damaging	Het
Helz	A	G	11: 107,619,060 (GRCm38)	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,859,295 (GRCm38)	Y69H	probably benign	Het
Il17ra	A	G	6: 120,475,582 (GRCm38)	N242S	probably benign	Het
Immp1l	G	C	2: 105,964,208 (GRCm38)	G117A	probably damaging	Het
Itm2c	T	C	1: 85,894,692 (GRCm38)	V10A	probably benign	Het
Kif1b	T	C	4: 149,238,426 (GRCm38)	K679E	possibly damaging	Het
Kng1	T	C	16: 23,074,645 (GRCm38)	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,166,153 (GRCm38)	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,598,793 (GRCm38)	F621S	probably damaging	Het
Lpl	T	A	8: 68,892,747 (GRCm38)	D134E	probably damaging	Het
Lypd3	T	C	7: 24,640,494 (GRCm38)	Y329H	probably benign	Het
Mettl13	T	C	1: 162,535,886 (GRCm38)	D225G	probably benign	Het
Myo7b	A	G	18: 31,999,974 (GRCm38)	F441L	probably damaging	Het
Nnt	T	A	13: 119,336,328 (GRCm38)	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,191,851 (GRCm38)	M144K	probably damaging	Het
Olfr1040	A	G	2: 86,145,969 (GRCm38)	V255A	probably benign	Het
Olfr1347	T	C	7: 6,488,845 (GRCm38)	T3A	probably benign	Het
Olfr325	A	T	11: 58,581,068 (GRCm38)	M75L	probably benign	Het
Pappa2	A	T	1: 158,871,543 (GRCm38)	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,238,888 (GRCm38)	I155V	probably benign	Het
Ptgs2	T	A	1: 150,100,993 (GRCm38)	N24K	probably benign	Het
Ralgds	A	T	2: 28,547,588 (GRCm38)	M514L	probably damaging	Het
Rbm47	G	C	5: 66,026,283 (GRCm38)	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,569,005 (GRCm38)	V254D	probably damaging	Het
Selenot	A	T	3: 58,585,284 (GRCm38)	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,850,851 (GRCm38)	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,542,724 (GRCm38)	V10A	probably benign	Het
Spem2	G	T	11: 69,816,696 (GRCm38)	S481*	probably null	Het
Styk1	C	T	6: 131,311,016 (GRCm38)	G128D	probably damaging	Het
Tmc6	A	T	11: 117,776,328 (GRCm38)	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,574,835 (GRCm38)		probably null	Het
Tnpo3	A	G	6: 29,555,268 (GRCm38)	V772A	probably benign	Het
Topaz1	T	C	9: 122,797,756 (GRCm38)	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,216,055 (GRCm38)	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262 (GRCm38)	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,849,016 (GRCm38)	I129T	probably benign	Het
Wwc2	A	T	8: 47,856,263 (GRCm38)	M828K	unknown	Het
Zfp236	A	T	18: 82,671,794 (GRCm38)	S187T	possibly 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
R6022:Chd1	UTSW	17	17,377,773 (GRCm38)	missense	probably benign	0.39
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'- AGCATGGTTATGACACTGACTG -3'
(R):5'- GAACTCACAGCAGATATTAACAGAG -3'

Sequencing Primer
(F):5'- GTATACAATCCCCTGCCATA -3'
(R):5'- GTCAAGAAAATGTGAGTACCTTGTG -3'

Posted On

2017-10-10