Incidental Mutation 'R1370:Chd1'
ID |
155979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chd1
|
Ensembl Gene |
ENSMUSG00000023852 |
Gene Name |
chromodomain helicase DNA binding protein 1 |
Synonyms |
4930525N21Rik |
MMRRC Submission |
039434-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1370 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 17607742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 430
(G430D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024620]
[ENSMUST00000232199]
[ENSMUST00000232396]
|
AlphaFold |
P40201 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024620
AA Change: G430D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000024620 Gene: ENSMUSG00000116564 AA Change: G430D
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 |
noncoding transcript
Transcript: ENSMUST00000181390
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232199
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232396
AA Change: G430D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.8%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Adgra3 |
T |
C |
5: 50,118,129 (GRCm39) |
I1140V |
possibly damaging |
Het |
Adrb3 |
A |
T |
8: 27,717,798 (GRCm39) |
|
probably null |
Het |
Afap1 |
A |
G |
5: 36,092,944 (GRCm39) |
D16G |
unknown |
Het |
AI593442 |
T |
C |
9: 52,589,308 (GRCm39) |
K90E |
probably damaging |
Het |
Aicda |
A |
T |
6: 122,538,144 (GRCm39) |
N101Y |
probably benign |
Het |
Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,260,846 (GRCm39) |
F1424I |
probably damaging |
Het |
Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
Bin1 |
A |
G |
18: 32,562,756 (GRCm39) |
I416V |
probably benign |
Het |
Bptf |
A |
T |
11: 106,937,920 (GRCm39) |
S2724T |
probably damaging |
Het |
Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
Chaf1a |
A |
T |
17: 56,371,032 (GRCm39) |
H639L |
probably benign |
Het |
Ciao3 |
A |
G |
17: 25,995,962 (GRCm39) |
E62G |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,519,624 (GRCm39) |
|
probably benign |
Het |
Clptm1 |
A |
G |
7: 19,367,797 (GRCm39) |
V605A |
possibly damaging |
Het |
Cmpk2 |
A |
G |
12: 26,521,451 (GRCm39) |
D241G |
probably damaging |
Het |
Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,729,747 (GRCm39) |
I783N |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,518,060 (GRCm39) |
S1305P |
probably damaging |
Het |
Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
Gbp8 |
C |
T |
5: 105,164,442 (GRCm39) |
A394T |
possibly damaging |
Het |
H1f10 |
A |
G |
6: 87,958,133 (GRCm39) |
I69T |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,818,621 (GRCm39) |
C2771S |
probably benign |
Het |
Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
C |
T |
12: 119,134,738 (GRCm39) |
G443E |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
Klk1b11 |
A |
G |
7: 43,426,331 (GRCm39) |
I22V |
probably benign |
Het |
Krt6b |
T |
C |
15: 101,585,987 (GRCm39) |
D362G |
probably damaging |
Het |
Lce1e |
A |
G |
3: 92,615,150 (GRCm39) |
S66P |
unknown |
Het |
Letm1 |
A |
T |
5: 33,936,026 (GRCm39) |
|
probably null |
Het |
Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
Mrpl12 |
A |
G |
11: 120,376,127 (GRCm39) |
S46G |
probably benign |
Het |
Ndrg3 |
T |
C |
2: 156,780,570 (GRCm39) |
E198G |
probably damaging |
Het |
Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
Pcdh20 |
A |
G |
14: 88,705,737 (GRCm39) |
I521T |
probably benign |
Het |
Pdzph1 |
T |
C |
17: 59,281,082 (GRCm39) |
D400G |
possibly damaging |
Het |
Per2 |
A |
T |
1: 91,373,279 (GRCm39) |
S170T |
possibly damaging |
Het |
Pramel25 |
T |
A |
4: 143,521,874 (GRCm39) |
L497I |
possibly damaging |
Het |
Pros1 |
A |
G |
16: 62,739,921 (GRCm39) |
K457E |
probably benign |
Het |
Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
Rerg |
A |
T |
6: 137,034,799 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
Septin2 |
G |
T |
1: 93,426,828 (GRCm39) |
V146L |
probably damaging |
Het |
Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
Sh3bp4 |
A |
T |
1: 89,071,494 (GRCm39) |
Y114F |
probably benign |
Het |
Slc44a5 |
C |
A |
3: 153,948,796 (GRCm39) |
T188K |
probably benign |
Het |
Slco6d1 |
A |
C |
1: 98,350,819 (GRCm39) |
I100L |
probably benign |
Het |
Slfn4 |
G |
T |
11: 83,079,632 (GRCm39) |
D441Y |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,758,975 (GRCm39) |
|
probably benign |
Het |
Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,527,958 (GRCm39) |
V1405A |
probably benign |
Het |
Syt1 |
A |
G |
10: 108,526,783 (GRCm39) |
L42P |
probably damaging |
Het |
Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
Tbcel |
A |
T |
9: 42,361,358 (GRCm39) |
D63E |
probably damaging |
Het |
Tdrd3 |
A |
T |
14: 87,695,490 (GRCm39) |
|
probably benign |
Het |
Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
Tsc22d1 |
A |
G |
14: 76,675,104 (GRCm39) |
|
probably benign |
Het |
Tsga10 |
G |
T |
1: 37,874,534 (GRCm39) |
T117K |
probably damaging |
Het |
Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,677,495 (GRCm39) |
|
probably benign |
Het |
Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
probably benign |
Het |
Zbtb37 |
C |
T |
1: 160,859,592 (GRCm39) |
E238K |
probably benign |
Het |
Zfp354c |
A |
G |
11: 50,706,667 (GRCm39) |
I136T |
probably benign |
Het |
Zfp384 |
G |
A |
6: 125,013,416 (GRCm39) |
A479T |
probably benign |
Het |
Zfp646 |
T |
A |
7: 127,479,036 (GRCm39) |
N404K |
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 |
|
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 |
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'- CAGACCCAGCAGATGAATCAGGTG -3'
(R):5'- GCACGACACAATCTTGTCACAGTG -3'
Sequencing Primer
(F):5'- TGCTGCTCGTCTACAGACAG -3'
(R):5'- TTCAAATATCCTCCCTTGACAGAATC -3'
|
Posted On |
2014-02-11 |