Incidental Mutation 'R3773:Chd1'
ID |
273465 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chd1
|
Ensembl Gene |
ENSMUSG00000023852 |
Gene Name |
chromodomain helicase DNA binding protein 1 |
Synonyms |
4930525N21Rik |
MMRRC Submission |
040749-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3773 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17594913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 16
(D16G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024620]
[ENSMUST00000232199]
[ENSMUST00000232396]
|
AlphaFold |
P40201 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024620
AA Change: D16G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000024620 Gene: ENSMUSG00000116564 AA Change: D16G
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 damaging
Transcript: ENSMUST00000232396
AA Change: D16G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6931 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,532,046 (GRCm39) |
K899N |
probably benign |
Het |
Acsbg3 |
T |
C |
17: 57,183,262 (GRCm39) |
M1T |
probably null |
Het |
Adgrv1 |
G |
A |
13: 81,647,162 (GRCm39) |
S3126L |
probably damaging |
Het |
Apba3 |
C |
A |
10: 81,108,443 (GRCm39) |
|
probably null |
Het |
Apobec4 |
G |
T |
1: 152,632,556 (GRCm39) |
A195S |
probably benign |
Het |
Asap3 |
C |
T |
4: 135,954,886 (GRCm39) |
T72I |
probably benign |
Het |
Cand2 |
T |
A |
6: 115,762,178 (GRCm39) |
H201Q |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Csgalnact2 |
T |
C |
6: 118,103,180 (GRCm39) |
K19E |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,454,743 (GRCm39) |
E263G |
probably benign |
Het |
Cyp17a1 |
T |
G |
19: 46,658,162 (GRCm39) |
K250T |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Dgcr8 |
T |
C |
16: 18,074,639 (GRCm39) |
D712G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,724,919 (GRCm39) |
W442R |
probably damaging |
Het |
Elavl2 |
C |
T |
4: 91,152,325 (GRCm39) |
G131R |
probably damaging |
Het |
Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
Ercc6l2 |
A |
G |
13: 63,989,264 (GRCm39) |
D270G |
probably damaging |
Het |
Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,595,433 (GRCm39) |
E109D |
probably damaging |
Het |
Fry |
A |
T |
5: 150,321,663 (GRCm39) |
R999S |
probably damaging |
Het |
Gak |
G |
A |
5: 108,730,538 (GRCm39) |
T956I |
probably benign |
Het |
Gps2 |
T |
C |
11: 69,806,927 (GRCm39) |
F21L |
probably damaging |
Het |
Grhl3 |
C |
T |
4: 135,283,158 (GRCm39) |
W303* |
probably null |
Het |
Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Matk |
T |
A |
10: 81,094,131 (GRCm39) |
L21Q |
probably benign |
Het |
Mthfr |
T |
C |
4: 148,128,907 (GRCm39) |
V160A |
probably benign |
Het |
Nhlrc4 |
T |
A |
17: 26,162,367 (GRCm39) |
K127* |
probably null |
Het |
Nsd1 |
G |
A |
13: 55,394,486 (GRCm39) |
V696I |
probably benign |
Het |
Nup210l |
T |
G |
3: 90,027,201 (GRCm39) |
Y194* |
probably null |
Het |
Or1j16 |
A |
T |
2: 36,530,333 (GRCm39) |
Y94F |
probably benign |
Het |
Or2h2 |
G |
T |
17: 37,396,957 (GRCm39) |
Y33* |
probably null |
Het |
Or7a41 |
G |
A |
10: 78,871,014 (GRCm39) |
C128Y |
possibly damaging |
Het |
Or9q2 |
T |
A |
19: 13,772,568 (GRCm39) |
M136L |
probably benign |
Het |
Pcdhb15 |
T |
A |
18: 37,608,943 (GRCm39) |
V725D |
probably benign |
Het |
Pes1 |
A |
G |
11: 3,925,548 (GRCm39) |
Y221C |
probably damaging |
Het |
Prkd3 |
T |
C |
17: 79,266,535 (GRCm39) |
I603V |
possibly damaging |
Het |
Ptpn13 |
A |
G |
5: 103,624,987 (GRCm39) |
E97G |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
Rims1 |
T |
C |
1: 22,492,034 (GRCm39) |
D842G |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf26rt |
C |
T |
6: 76,473,942 (GRCm39) |
V225I |
probably benign |
Het |
Rngtt |
T |
C |
4: 33,330,889 (GRCm39) |
I164T |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,918,061 (GRCm39) |
K605R |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
Stxbp5 |
G |
A |
10: 9,644,671 (GRCm39) |
T960I |
probably damaging |
Het |
Suco |
A |
T |
1: 161,671,565 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,344,087 (GRCm39) |
R227W |
probably damaging |
Het |
Tmem131l |
A |
G |
3: 83,805,893 (GRCm39) |
S1517P |
probably damaging |
Het |
Trio |
A |
G |
15: 27,748,177 (GRCm39) |
S2492P |
probably damaging |
Het |
Tsg101 |
T |
C |
7: 46,539,363 (GRCm39) |
*254W |
probably null |
Het |
Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
Upb1 |
T |
A |
10: 75,275,672 (GRCm39) |
|
probably null |
Het |
Vmn1r32 |
T |
A |
6: 66,530,351 (GRCm39) |
I142F |
probably benign |
Het |
Vmn1r60 |
C |
A |
7: 5,547,710 (GRCm39) |
C130F |
possibly damaging |
Het |
Vmn2r101 |
A |
G |
17: 19,809,919 (GRCm39) |
D235G |
probably benign |
Het |
Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
Zbed4 |
T |
C |
15: 88,665,050 (GRCm39) |
S373P |
probably benign |
Het |
Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
Zfp423 |
A |
T |
8: 88,507,140 (GRCm39) |
L1047Q |
probably benign |
Het |
Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
Zfp61 |
T |
C |
7: 23,995,406 (GRCm39) |
M1V |
probably null |
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 |
|
R0285:Chd1
|
UTSW |
17 |
17,594,942 (GRCm39) |
splice site |
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 |
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'- GAGCACGTGTTCTTACCTAGCG -3'
(R):5'- ACGTAAGCACATCTGCAGC -3'
Sequencing Primer
(F):5'- GCACGTGTTCTTACCTAGCGATAAG -3'
(R):5'- GTAAGCACATCTGCAGCAAAAG -3'
|
Posted On |
2015-03-25 |