Incidental Mutation 'R8261:Chd1'
ID |
639958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chd1
|
Ensembl Gene |
ENSMUSG00000023852 |
Gene Name |
chromodomain helicase DNA binding protein 1 |
Synonyms |
4930525N21Rik |
MMRRC Submission |
067686-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8261 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17607804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 451
(S451P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024620
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024620]
|
AlphaFold |
P40201 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024620
AA Change: S451P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000024620 Gene: ENSMUSG00000116564 AA Change: S451P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (76/76) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,888,425 (GRCm39) |
E5G |
probably benign |
Het |
Adam23 |
T |
C |
1: 63,567,957 (GRCm39) |
V202A |
noncoding transcript |
Het |
Adamtsl1 |
A |
C |
4: 86,195,120 (GRCm39) |
E512D |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,982,817 (GRCm39) |
D1367V |
probably damaging |
Het |
Angpt4 |
A |
T |
2: 151,769,084 (GRCm39) |
Q198L |
probably benign |
Het |
Apcdd1 |
T |
A |
18: 63,066,974 (GRCm39) |
H29Q |
possibly damaging |
Het |
Cdh16 |
T |
A |
8: 105,341,811 (GRCm39) |
K755* |
probably null |
Het |
Cdk6 |
T |
G |
5: 3,440,685 (GRCm39) |
F80V |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,799,002 (GRCm39) |
L2361P |
probably damaging |
Het |
Chst8 |
A |
G |
7: 34,447,579 (GRCm39) |
M13T |
possibly damaging |
Het |
Cntnap2 |
T |
C |
6: 47,072,627 (GRCm39) |
L1065P |
probably damaging |
Het |
Dctn4 |
T |
C |
18: 60,659,343 (GRCm39) |
V14A |
possibly damaging |
Het |
Dicer1 |
A |
T |
12: 104,657,865 (GRCm39) |
V1903D |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,911,791 (GRCm39) |
|
silent |
Het |
Eif4g3 |
T |
A |
4: 137,898,429 (GRCm39) |
S902T |
possibly damaging |
Het |
Emid1 |
G |
T |
11: 5,084,353 (GRCm39) |
A152D |
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,432,345 (GRCm39) |
N297K |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,032,902 (GRCm39) |
D281G |
probably null |
Het |
Frmpd2 |
T |
C |
14: 33,224,934 (GRCm39) |
V133A |
probably benign |
Het |
Fry |
A |
G |
5: 150,369,372 (GRCm39) |
Y2282C |
probably damaging |
Het |
Gm10377 |
C |
T |
14: 42,616,664 (GRCm39) |
|
probably null |
Het |
Gm1527 |
A |
G |
3: 28,974,749 (GRCm39) |
T521A |
probably damaging |
Het |
Gpr141 |
T |
A |
13: 19,936,013 (GRCm39) |
H254L |
probably benign |
Het |
Gpr160 |
A |
G |
3: 30,950,096 (GRCm39) |
E56G |
probably benign |
Het |
Grid2ip |
T |
G |
5: 143,367,695 (GRCm39) |
|
probably null |
Het |
Grin2a |
A |
G |
16: 9,481,382 (GRCm39) |
F473S |
probably damaging |
Het |
Igkv1-131 |
T |
C |
6: 67,743,102 (GRCm39) |
T94A |
probably damaging |
Het |
Inava |
T |
A |
1: 136,153,215 (GRCm39) |
N226Y |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,772,078 (GRCm39) |
L1367P |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 936,929 (GRCm39) |
M856K |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,995,309 (GRCm39) |
|
probably benign |
Het |
Lad1 |
T |
C |
1: 135,755,500 (GRCm39) |
S259P |
probably damaging |
Het |
Lalba |
A |
T |
15: 98,379,992 (GRCm39) |
F86Y |
possibly damaging |
Het |
Lrfn5 |
G |
A |
12: 61,886,323 (GRCm39) |
C37Y |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,046,942 (GRCm39) |
T665A |
probably benign |
Het |
Ms4a20 |
T |
A |
19: 11,087,707 (GRCm39) |
S75C |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,041,867 (GRCm39) |
I719V |
|
Het |
Nbl1 |
A |
T |
4: 138,812,832 (GRCm39) |
C34S |
probably damaging |
Het |
Ncapg |
T |
A |
5: 45,844,730 (GRCm39) |
I575N |
possibly damaging |
Het |
Nlgn1 |
T |
C |
3: 25,487,816 (GRCm39) |
T840A |
possibly damaging |
Het |
Nrdc |
T |
C |
4: 108,873,876 (GRCm39) |
S231P |
possibly damaging |
Het |
Nrg2 |
T |
C |
18: 36,165,428 (GRCm39) |
K395E |
probably benign |
Het |
Nrip1 |
A |
T |
16: 76,088,949 (GRCm39) |
N869K |
possibly damaging |
Het |
Or2a14 |
T |
A |
6: 43,130,242 (GRCm39) |
M1K |
probably null |
Het |
Or4c12 |
A |
G |
2: 89,773,716 (GRCm39) |
F248L |
probably benign |
Het |
Or8s16 |
A |
T |
15: 98,210,546 (GRCm39) |
M295K |
probably benign |
Het |
Otub2 |
G |
T |
12: 103,369,161 (GRCm39) |
|
probably null |
Het |
Paxbp1 |
T |
C |
16: 90,834,303 (GRCm39) |
D161G |
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
Per2 |
T |
A |
1: 91,361,170 (GRCm39) |
Q495L |
possibly damaging |
Het |
Plxna2 |
T |
A |
1: 194,431,724 (GRCm39) |
V571E |
probably damaging |
Het |
Prr7 |
C |
A |
13: 55,620,735 (GRCm39) |
P248T |
possibly damaging |
Het |
Ptprr |
A |
T |
10: 116,073,169 (GRCm39) |
T464S |
possibly damaging |
Het |
Rapgef2 |
A |
G |
3: 78,993,325 (GRCm39) |
V721A |
probably benign |
Het |
Rfx1 |
A |
T |
8: 84,819,479 (GRCm39) |
Y625F |
probably benign |
Het |
Rps6kb2 |
G |
T |
19: 4,211,195 (GRCm39) |
A110D |
possibly damaging |
Het |
Setdb2 |
A |
T |
14: 59,651,141 (GRCm39) |
|
probably benign |
Het |
Slc25a31 |
T |
C |
3: 40,679,351 (GRCm39) |
I272T |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,204,520 (GRCm39) |
V133A |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,925,777 (GRCm39) |
D1185G |
probably damaging |
Het |
Spag6 |
T |
A |
2: 18,750,301 (GRCm39) |
L449H |
probably benign |
Het |
Sptb |
C |
A |
12: 76,668,036 (GRCm39) |
R687L |
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,877,616 (GRCm39) |
V1012E |
noncoding transcript |
Het |
Tmem192 |
A |
G |
8: 65,416,972 (GRCm39) |
I188V |
probably benign |
Het |
Tmem253 |
G |
A |
14: 52,256,708 (GRCm39) |
V194M |
probably benign |
Het |
Tph1 |
A |
G |
7: 46,303,173 (GRCm39) |
|
silent |
Het |
Trak1 |
A |
G |
9: 121,280,733 (GRCm39) |
E374G |
probably damaging |
Het |
Trpv1 |
A |
T |
11: 73,145,593 (GRCm39) |
|
probably null |
Het |
Trub2 |
T |
C |
2: 29,667,725 (GRCm39) |
H305R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,747,768 (GRCm39) |
V4427A |
probably benign |
Het |
Vasn |
A |
G |
16: 4,466,160 (GRCm39) |
T36A |
probably damaging |
Het |
Vmn1r8 |
A |
T |
6: 57,013,158 (GRCm39) |
I70F |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,862,262 (GRCm39) |
I2960L |
probably damaging |
Het |
Zdhhc4 |
C |
A |
5: 143,307,588 (GRCm39) |
M144I |
probably benign |
Het |
Zfp273 |
T |
A |
13: 67,974,070 (GRCm39) |
N399K |
probably benign |
Het |
Zfp976 |
T |
A |
7: 42,262,125 (GRCm39) |
T572S |
unknown |
Het |
Zmym4 |
A |
G |
4: 126,798,360 (GRCm39) |
C756R |
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 |
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 |
|
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'- ATAAAGGATGGCGGCTTACC -3'
(R):5'- ATGGCACGACACAATCTTGTCAC -3'
Sequencing Primer
(F):5'- TTTCGAAGTGACGGCATTAAGC -3'
(R):5'- TCCTCCCTTGACAGAATC -3'
|
Posted On |
2020-07-28 |