Incidental Mutation 'R0285:Chd1'
ID |
24701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chd1
|
Ensembl Gene |
ENSMUSG00000023852 |
Gene Name |
chromodomain helicase DNA binding protein 1 |
Synonyms |
4930525N21Rik |
MMRRC Submission |
038506-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0285 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 17594942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024620]
[ENSMUST00000232199]
[ENSMUST00000232396]
|
AlphaFold |
P40201 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024620
|
SMART Domains |
Protein: ENSMUSP00000024620 Gene: ENSMUSG00000116564
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
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 92.9%
|
Validation Efficiency |
99% (80/81) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acy3 |
A |
G |
19: 4,038,193 (GRCm39) |
E162G |
probably benign |
Het |
Angptl1 |
T |
C |
1: 156,672,785 (GRCm39) |
S204P |
probably benign |
Het |
Atf6b |
C |
T |
17: 34,869,370 (GRCm39) |
|
probably benign |
Het |
Card11 |
G |
A |
5: 140,872,856 (GRCm39) |
S619F |
probably damaging |
Het |
Ccdc192 |
G |
A |
18: 57,666,937 (GRCm39) |
G5S |
probably damaging |
Het |
Ccl11 |
G |
A |
11: 81,953,084 (GRCm39) |
V81I |
probably damaging |
Het |
Cds1 |
T |
C |
5: 101,944,904 (GRCm39) |
I126T |
probably damaging |
Het |
Cndp1 |
C |
A |
18: 84,636,363 (GRCm39) |
V384F |
possibly damaging |
Het |
Cuta |
A |
G |
17: 27,158,423 (GRCm39) |
|
probably null |
Het |
Diaph3 |
G |
A |
14: 87,352,460 (GRCm39) |
T47I |
possibly damaging |
Het |
Dop1a |
A |
T |
9: 86,394,692 (GRCm39) |
S598C |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,356,770 (GRCm39) |
M217V |
probably benign |
Het |
Entrep1 |
G |
A |
19: 23,956,749 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
T |
A |
10: 128,348,087 (GRCm39) |
I898F |
possibly damaging |
Het |
Fcsk |
G |
C |
8: 111,620,349 (GRCm39) |
H235Q |
probably benign |
Het |
Fgd3 |
A |
T |
13: 49,417,424 (GRCm39) |
W680R |
possibly damaging |
Het |
Folh1 |
A |
G |
7: 86,391,373 (GRCm39) |
|
probably benign |
Het |
Gadl1 |
C |
A |
9: 115,859,806 (GRCm39) |
|
probably benign |
Het |
Garem1 |
A |
G |
18: 21,262,669 (GRCm39) |
M715T |
probably benign |
Het |
Gpd2 |
A |
T |
2: 57,228,967 (GRCm39) |
D257V |
probably benign |
Het |
Hdac7 |
A |
G |
15: 97,696,103 (GRCm39) |
|
probably null |
Het |
Heatr5b |
A |
G |
17: 79,115,882 (GRCm39) |
M858T |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,761,145 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
G |
T |
3: 88,004,297 (GRCm39) |
C461F |
probably benign |
Het |
Lamb1 |
C |
A |
12: 31,376,644 (GRCm39) |
C559* |
probably null |
Het |
Lratd2 |
T |
C |
15: 60,694,816 (GRCm39) |
H310R |
probably benign |
Het |
Lrrc31 |
T |
C |
3: 30,739,097 (GRCm39) |
N308S |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,148,663 (GRCm39) |
Y1222C |
probably damaging |
Het |
Map3k10 |
C |
A |
7: 27,373,325 (GRCm39) |
R42L |
probably benign |
Het |
Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mmp11 |
T |
C |
10: 75,761,502 (GRCm39) |
Y366C |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,963,902 (GRCm39) |
D650E |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,257,621 (GRCm39) |
M641V |
probably damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nol4l |
G |
A |
2: 153,325,773 (GRCm39) |
|
probably benign |
Het |
Notch1 |
T |
G |
2: 26,350,873 (GRCm39) |
D2089A |
possibly damaging |
Het |
Or10q3 |
A |
G |
19: 11,848,502 (GRCm39) |
L26P |
probably damaging |
Het |
Or13c7 |
G |
A |
4: 43,854,398 (GRCm39) |
V30M |
possibly damaging |
Het |
Or52h2 |
A |
T |
7: 103,838,531 (GRCm39) |
Y294* |
probably null |
Het |
Or5b24 |
A |
T |
19: 12,912,536 (GRCm39) |
M145L |
probably benign |
Het |
Or5l13 |
A |
G |
2: 87,780,475 (GRCm39) |
I34T |
probably damaging |
Het |
Or5p68 |
A |
G |
7: 107,945,706 (GRCm39) |
S161P |
probably benign |
Het |
Or8d23 |
T |
A |
9: 38,842,070 (GRCm39) |
I201N |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,536,877 (GRCm39) |
|
probably null |
Het |
Paox |
T |
C |
7: 139,709,053 (GRCm39) |
F324L |
probably damaging |
Het |
Pycr1 |
A |
T |
11: 120,531,142 (GRCm39) |
I277N |
probably benign |
Het |
R3hcc1l |
A |
T |
19: 42,564,568 (GRCm39) |
H627L |
probably damaging |
Het |
Rab21 |
G |
A |
10: 115,126,768 (GRCm39) |
S193L |
probably benign |
Het |
Ralgds |
T |
G |
2: 28,440,581 (GRCm39) |
|
probably null |
Het |
Rbm42 |
A |
G |
7: 30,345,265 (GRCm39) |
S169P |
possibly damaging |
Het |
Rfpl4 |
A |
G |
7: 5,113,377 (GRCm39) |
V262A |
probably benign |
Het |
Rhobtb3 |
A |
G |
13: 76,025,628 (GRCm39) |
I496T |
possibly damaging |
Het |
Rnf31 |
G |
A |
14: 55,838,846 (GRCm39) |
A901T |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,731,863 (GRCm39) |
D2359G |
probably damaging |
Het |
Sgo2b |
A |
C |
8: 64,381,823 (GRCm39) |
Y336* |
probably null |
Het |
Slc16a7 |
T |
A |
10: 125,130,500 (GRCm39) |
I62L |
probably benign |
Het |
Slc22a21 |
A |
T |
11: 53,850,022 (GRCm39) |
|
probably benign |
Het |
Slc25a21 |
A |
G |
12: 56,904,810 (GRCm39) |
|
probably null |
Het |
Slc5a4b |
T |
C |
10: 75,898,117 (GRCm39) |
I532M |
probably damaging |
Het |
Spata31f1a |
G |
A |
4: 42,850,236 (GRCm39) |
T640M |
probably benign |
Het |
Srrm4 |
C |
A |
5: 116,605,848 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
C |
A |
2: 32,713,554 (GRCm39) |
E27D |
probably benign |
Het |
Sult2a5 |
T |
A |
7: 13,362,685 (GRCm39) |
Y131N |
probably damaging |
Het |
Svopl |
T |
C |
6: 37,961,457 (GRCm39) |
Q492R |
probably benign |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
Tmprss11c |
A |
G |
5: 86,419,289 (GRCm39) |
L90P |
probably damaging |
Het |
Tmprss6 |
T |
A |
15: 78,337,068 (GRCm39) |
D346V |
probably damaging |
Het |
Ubr4 |
A |
C |
4: 139,168,112 (GRCm39) |
S2820R |
probably damaging |
Het |
Usp4 |
T |
C |
9: 108,255,763 (GRCm39) |
V607A |
probably benign |
Het |
Usp45 |
A |
G |
4: 21,798,603 (GRCm39) |
|
probably null |
Het |
Vill |
C |
T |
9: 118,899,895 (GRCm39) |
|
probably benign |
Het |
Vmn1r13 |
C |
A |
6: 57,186,979 (GRCm39) |
T46N |
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,565,873 (GRCm39) |
T63A |
probably benign |
Het |
Vmn2r82 |
T |
A |
10: 79,232,391 (GRCm39) |
W797R |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,198,800 (GRCm39) |
D287E |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,475,046 (GRCm39) |
L660F |
probably damaging |
Het |
|
Other mutations in Chd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00704:Chd1
|
APN |
17 |
15,952,827 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01356:Chd1
|
APN |
17 |
15,970,127 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01369:Chd1
|
APN |
17 |
15,975,259 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01519:Chd1
|
APN |
17 |
17,598,831 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01604:Chd1
|
APN |
17 |
15,990,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01635:Chd1
|
APN |
17 |
17,598,858 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01721:Chd1
|
APN |
17 |
15,990,430 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01959:Chd1
|
APN |
17 |
15,962,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02367:Chd1
|
APN |
17 |
17,610,315 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02476:Chd1
|
APN |
17 |
15,954,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02756:Chd1
|
APN |
17 |
15,951,069 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02817:Chd1
|
APN |
17 |
15,969,762 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03084:Chd1
|
APN |
17 |
15,990,560 (GRCm39) |
missense |
probably benign |
0.22 |
IGL03108:Chd1
|
APN |
17 |
15,945,543 (GRCm39) |
missense |
possibly damaging |
0.70 |
Holly
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0053:Chd1
|
UTSW |
17 |
15,967,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R0053:Chd1
|
UTSW |
17 |
15,967,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R0128:Chd1
|
UTSW |
17 |
17,613,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0197:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
R0326:Chd1
|
UTSW |
17 |
15,988,830 (GRCm39) |
missense |
probably benign |
|
R0326:Chd1
|
UTSW |
17 |
15,988,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Chd1
|
UTSW |
17 |
17,607,552 (GRCm39) |
missense |
probably benign |
0.14 |
R0391:Chd1
|
UTSW |
17 |
15,970,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0486:Chd1
|
UTSW |
17 |
15,954,604 (GRCm39) |
missense |
probably damaging |
0.99 |
R0637:Chd1
|
UTSW |
17 |
15,962,550 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0675:Chd1
|
UTSW |
17 |
15,978,523 (GRCm39) |
unclassified |
probably benign |
|
R0701:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
R0788:Chd1
|
UTSW |
17 |
15,927,376 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0848:Chd1
|
UTSW |
17 |
15,990,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
R1169:Chd1
|
UTSW |
17 |
15,955,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R1218:Chd1
|
UTSW |
17 |
15,945,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1370:Chd1
|
UTSW |
17 |
17,607,742 (GRCm39) |
missense |
probably benign |
0.00 |
R1470:Chd1
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1470:Chd1
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1478:Chd1
|
UTSW |
17 |
15,959,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R1752:Chd1
|
UTSW |
17 |
15,963,494 (GRCm39) |
critical splice donor site |
probably null |
|
R1759:Chd1
|
UTSW |
17 |
17,607,533 (GRCm39) |
missense |
probably benign |
0.00 |
R1767:Chd1
|
UTSW |
17 |
15,990,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Chd1
|
UTSW |
17 |
15,982,748 (GRCm39) |
missense |
probably benign |
0.39 |
R2007:Chd1
|
UTSW |
17 |
15,951,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Chd1
|
UTSW |
17 |
15,962,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Chd1
|
UTSW |
17 |
17,594,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R3773:Chd1
|
UTSW |
17 |
17,594,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R3849:Chd1
|
UTSW |
17 |
15,952,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R4241:Chd1
|
UTSW |
17 |
15,990,289 (GRCm39) |
nonsense |
probably null |
|
R4242:Chd1
|
UTSW |
17 |
15,990,289 (GRCm39) |
nonsense |
probably null |
|
R4354:Chd1
|
UTSW |
17 |
17,610,263 (GRCm39) |
missense |
probably benign |
0.23 |
R4468:Chd1
|
UTSW |
17 |
15,980,657 (GRCm39) |
missense |
probably damaging |
0.99 |
R4469:Chd1
|
UTSW |
17 |
15,980,657 (GRCm39) |
missense |
probably damaging |
0.99 |
R4731:Chd1
|
UTSW |
17 |
17,598,079 (GRCm39) |
missense |
probably benign |
0.36 |
R4824:Chd1
|
UTSW |
17 |
15,953,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Chd1
|
UTSW |
17 |
15,989,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Chd1
|
UTSW |
17 |
15,989,015 (GRCm39) |
nonsense |
probably null |
|
R4880:Chd1
|
UTSW |
17 |
17,594,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R4960:Chd1
|
UTSW |
17 |
15,962,493 (GRCm39) |
missense |
probably damaging |
0.96 |
R5071:Chd1
|
UTSW |
17 |
15,982,667 (GRCm39) |
missense |
probably benign |
|
R5078:Chd1
|
UTSW |
17 |
15,946,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5114:Chd1
|
UTSW |
17 |
15,948,460 (GRCm39) |
missense |
probably benign |
0.25 |
R5268:Chd1
|
UTSW |
17 |
15,956,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Chd1
|
UTSW |
17 |
15,990,530 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5304:Chd1
|
UTSW |
17 |
15,975,213 (GRCm39) |
missense |
probably benign |
0.01 |
R5307:Chd1
|
UTSW |
17 |
15,952,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Chd1
|
UTSW |
17 |
15,958,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R5553:Chd1
|
UTSW |
17 |
17,605,875 (GRCm39) |
missense |
probably benign |
0.17 |
R5623:Chd1
|
UTSW |
17 |
15,975,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R6022:Chd1
|
UTSW |
17 |
17,598,035 (GRCm39) |
missense |
probably benign |
0.39 |
R6137:Chd1
|
UTSW |
17 |
15,978,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Chd1
|
UTSW |
17 |
15,950,465 (GRCm39) |
splice site |
probably null |
|
R6373:Chd1
|
UTSW |
17 |
15,958,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:Chd1
|
UTSW |
17 |
15,950,864 (GRCm39) |
missense |
probably benign |
0.01 |
R6476:Chd1
|
UTSW |
17 |
17,601,250 (GRCm39) |
critical splice donor site |
probably null |
|
R6508:Chd1
|
UTSW |
17 |
15,958,895 (GRCm39) |
missense |
probably benign |
0.31 |
R6553:Chd1
|
UTSW |
17 |
15,945,692 (GRCm39) |
missense |
probably benign |
0.00 |
R6745:Chd1
|
UTSW |
17 |
17,607,429 (GRCm39) |
missense |
probably benign |
0.08 |
R7107:Chd1
|
UTSW |
17 |
15,981,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R7230:Chd1
|
UTSW |
17 |
15,927,199 (GRCm39) |
splice site |
probably null |
|
R7317:Chd1
|
UTSW |
17 |
15,962,536 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7341:Chd1
|
UTSW |
17 |
15,990,499 (GRCm39) |
missense |
probably damaging |
0.99 |
R7421:Chd1
|
UTSW |
17 |
15,969,660 (GRCm39) |
missense |
probably benign |
0.03 |
R7704:Chd1
|
UTSW |
17 |
15,987,737 (GRCm39) |
missense |
probably benign |
|
R7763:Chd1
|
UTSW |
17 |
15,953,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R8156:Chd1
|
UTSW |
17 |
15,981,666 (GRCm39) |
missense |
probably benign |
|
R8194:Chd1
|
UTSW |
17 |
17,594,737 (GRCm39) |
start gained |
probably benign |
|
R8261:Chd1
|
UTSW |
17 |
17,607,804 (GRCm39) |
missense |
probably benign |
0.02 |
R8338:Chd1
|
UTSW |
17 |
15,990,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R8401:Chd1
|
UTSW |
17 |
15,963,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R8411:Chd1
|
UTSW |
17 |
15,982,711 (GRCm39) |
missense |
probably damaging |
0.98 |
R9067:Chd1
|
UTSW |
17 |
15,951,107 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9184:Chd1
|
UTSW |
17 |
15,962,551 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9210:Chd1
|
UTSW |
17 |
15,950,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9212:Chd1
|
UTSW |
17 |
15,950,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9666:Chd1
|
UTSW |
17 |
15,955,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R9673:Chd1
|
UTSW |
17 |
15,989,023 (GRCm39) |
missense |
probably benign |
0.24 |
Z1176:Chd1
|
UTSW |
17 |
15,988,995 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Chd1
|
UTSW |
17 |
15,986,609 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Chd1
|
UTSW |
17 |
15,968,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAACTTGCCAAATCAGTCAAACG -3'
(R):5'- CCTCCCCTAGTTTGGAAGCCAAAG -3'
Sequencing Primer
(F):5'- GGCTGAAAAATCACTTCTGCCTG -3'
(R):5'- CCTAGTTTGGAAGCCAAAGATCAATG -3'
|
Posted On |
2013-04-16 |