Incidental Mutation 'R0372:Chd1'
ID |
30565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chd1
|
Ensembl Gene |
ENSMUSG00000023852 |
Gene Name |
chromodomain helicase DNA binding protein 1 |
Synonyms |
4930525N21Rik |
MMRRC Submission |
038578-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0372 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 17607552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 367
(C367S)
|
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: C367S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000024620 Gene: ENSMUSG00000116564 AA Change: C367S
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: C367S
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
Meta Mutation Damage Score |
0.0600 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
Validation Efficiency |
97% (70/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
T |
A |
14: 64,210,931 (GRCm39) |
Q99L |
probably damaging |
Het |
Abca2 |
A |
G |
2: 25,327,365 (GRCm39) |
Y641C |
probably damaging |
Het |
Abhd10 |
A |
G |
16: 45,557,254 (GRCm39) |
|
probably null |
Het |
Acan |
G |
T |
7: 78,750,349 (GRCm39) |
A1707S |
probably benign |
Het |
Ankrd61 |
T |
A |
5: 143,827,993 (GRCm39) |
R284S |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,559,401 (GRCm39) |
K258E |
probably damaging |
Het |
Arl6ip6 |
T |
G |
2: 53,092,933 (GRCm39) |
F153V |
probably damaging |
Het |
Atp2c2 |
C |
A |
8: 120,484,180 (GRCm39) |
F930L |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,703,309 (GRCm39) |
|
probably null |
Het |
Axin2 |
A |
G |
11: 108,814,159 (GRCm39) |
S16G |
probably damaging |
Het |
Axin2 |
T |
A |
11: 108,814,936 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,656,981 (GRCm39) |
D282E |
probably benign |
Het |
Ccny |
A |
T |
18: 9,345,201 (GRCm39) |
V191D |
probably damaging |
Het |
Cdk11b |
A |
G |
4: 155,725,957 (GRCm39) |
|
probably benign |
Het |
Cnnm4 |
G |
A |
1: 36,537,091 (GRCm39) |
V472M |
probably damaging |
Het |
Cpb2 |
T |
A |
14: 75,479,817 (GRCm39) |
I8N |
probably benign |
Het |
Dusp11 |
A |
G |
6: 85,935,712 (GRCm39) |
|
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,756,629 (GRCm39) |
|
probably null |
Het |
Gbf1 |
C |
T |
19: 46,274,143 (GRCm39) |
P1726S |
probably benign |
Het |
Hal |
A |
G |
10: 93,343,415 (GRCm39) |
|
probably benign |
Het |
Hlcs |
T |
C |
16: 93,939,766 (GRCm39) |
I671V |
possibly damaging |
Het |
Ifnab |
A |
G |
4: 88,609,071 (GRCm39) |
S132P |
probably benign |
Het |
Ing5 |
T |
C |
1: 93,740,142 (GRCm39) |
I70T |
probably damaging |
Het |
Ints1 |
T |
C |
5: 139,758,193 (GRCm39) |
N228S |
probably damaging |
Het |
Itgb6 |
T |
A |
2: 60,458,185 (GRCm39) |
I523F |
probably benign |
Het |
Kat2b |
T |
C |
17: 53,945,565 (GRCm39) |
F328S |
possibly damaging |
Het |
Kbtbd3 |
A |
T |
9: 4,316,950 (GRCm39) |
I34F |
possibly damaging |
Het |
Klhl11 |
A |
T |
11: 100,354,348 (GRCm39) |
I491N |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,155,489 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,428,005 (GRCm39) |
P523T |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,620,810 (GRCm39) |
D3556V |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,365,387 (GRCm39) |
H262L |
probably benign |
Het |
Lrrc27 |
T |
A |
7: 138,806,103 (GRCm39) |
I256K |
probably benign |
Het |
Lrrc47 |
G |
A |
4: 154,104,089 (GRCm39) |
R523K |
probably benign |
Het |
Lrrc71 |
A |
T |
3: 87,653,084 (GRCm39) |
S111T |
probably benign |
Het |
Map3k7cl |
T |
C |
16: 87,378,100 (GRCm39) |
V72A |
probably damaging |
Het |
Mphosph10 |
G |
T |
7: 64,038,603 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,148,657 (GRCm39) |
|
probably benign |
Het |
Nsd2 |
A |
T |
5: 34,048,895 (GRCm39) |
M1140L |
probably damaging |
Het |
Nt5dc3 |
T |
C |
10: 86,661,155 (GRCm39) |
M440T |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,164,259 (GRCm39) |
L424Q |
probably damaging |
Het |
Or5h17 |
T |
C |
16: 58,820,450 (GRCm39) |
V134A |
probably benign |
Het |
Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
Papola |
T |
C |
12: 105,785,097 (GRCm39) |
F410L |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,333,932 (GRCm39) |
E82G |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,706,439 (GRCm39) |
Y287C |
probably damaging |
Het |
Pld1 |
T |
A |
3: 28,142,787 (GRCm39) |
|
probably null |
Het |
Plekha8 |
G |
A |
6: 54,593,743 (GRCm39) |
|
probably null |
Het |
Ppbp |
C |
T |
5: 90,917,202 (GRCm39) |
T93M |
possibly damaging |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Rab3gap2 |
C |
T |
1: 184,994,891 (GRCm39) |
T810M |
possibly damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,872 (GRCm39) |
N418S |
possibly damaging |
Het |
Rnf20 |
C |
G |
4: 49,650,176 (GRCm39) |
R582G |
possibly damaging |
Het |
Serpine2 |
T |
C |
1: 79,799,147 (GRCm39) |
I36V |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 87,145,529 (GRCm39) |
V175E |
probably damaging |
Het |
Sned1 |
T |
C |
1: 93,213,673 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spg11 |
GCC |
G |
2: 121,889,928 (GRCm39) |
|
probably null |
Het |
Tecrl |
C |
T |
5: 83,442,506 (GRCm39) |
C189Y |
probably damaging |
Het |
Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
Thnsl2 |
T |
C |
6: 71,116,774 (GRCm39) |
Y126C |
probably damaging |
Het |
Tll2 |
T |
C |
19: 41,171,752 (GRCm39) |
|
probably null |
Het |
Ubqln4 |
C |
T |
3: 88,463,276 (GRCm39) |
S147L |
probably benign |
Het |
Ugt2b5 |
A |
T |
5: 87,288,117 (GRCm39) |
C17S |
probably benign |
Het |
Vps41 |
A |
T |
13: 19,026,417 (GRCm39) |
Q505L |
probably benign |
Het |
Zfp386 |
T |
C |
12: 116,018,436 (GRCm39) |
M35T |
possibly damaging |
Het |
Zfp777 |
T |
C |
6: 48,021,410 (GRCm39) |
M71V |
possibly damaging |
Het |
Zfp938 |
A |
T |
10: 82,063,662 (GRCm39) |
L34Q |
probably damaging |
Het |
Zfp974 |
A |
T |
7: 27,620,120 (GRCm39) |
|
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 |
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'- TGAACTGCTACATCCAGTAGGCCC -3'
(R):5'- CCTGAACTCCCTGTTCACTGATGAC -3'
Sequencing Primer
(F):5'- GTAGGCCCAGATGATAAAATTACTG -3'
(R):5'- CTGTTCACTGATGACAAGGC -3'
|
Posted On |
2013-04-24 |