Incidental Mutation 'R5268:Chd1'
| ID |
400001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1
|
| Ensembl Gene |
ENSMUSG00000023852 |
| Gene Name |
chromodomain helicase DNA binding protein 1 |
| Synonyms |
4930525N21Rik |
| MMRRC Submission |
042860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5268 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 15956005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 535
(V535I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024627]
[ENSMUST00000173311]
|
| AlphaFold |
P40201 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024627
AA Change: V535I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: V535I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
CHROMO
|
268 |
355 |
6.43e-20 |
SMART |
|
CHROMO
|
385 |
443 |
1.19e-14 |
SMART |
|
DEXDc
|
475 |
672 |
3.44e-34 |
SMART |
|
Blast:DEXDc
|
692 |
786 |
2e-54 |
BLAST |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
HELICc
|
816 |
900 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
955 |
1234 |
1e-112 |
BLAST |
|
PDB:4B4C|A
|
1119 |
1320 |
1e-132 |
PDB |
|
low complexity region
|
1325 |
1348 |
N/A |
INTRINSIC |
|
low complexity region
|
1377 |
1388 |
N/A |
INTRINSIC |
|
DUF4208
|
1396 |
1500 |
5.54e-51 |
SMART |
|
low complexity region
|
1507 |
1516 |
N/A |
INTRINSIC |
|
low complexity region
|
1538 |
1549 |
N/A |
INTRINSIC |
|
low complexity region
|
1626 |
1650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173159
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173311
AA Change: V535I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134091
Gene: ENSMUSG00000023852
AA Change: V535I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
CHROMO
|
268 |
355 |
6.43e-20 |
SMART |
|
CHROMO
|
385 |
443 |
1.19e-14 |
SMART |
|
DEXDc
|
475 |
672 |
3.44e-34 |
SMART |
|
Blast:DEXDc
|
692 |
786 |
2e-54 |
BLAST |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
HELICc
|
816 |
900 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
955 |
1078 |
2e-38 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174461
|
| SMART Domains |
Protein: ENSMUSP00000134718
Gene: ENSMUSG00000023852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF2_N
|
1 |
148 |
3.6e-34 |
PFAM |
|
low complexity region
|
172 |
184 |
N/A |
INTRINSIC |
|
HELICc
|
201 |
285 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
340 |
516 |
1e-47 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,659,444 (GRCm39) |
E299G |
probably damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,587,473 (GRCm39) |
R701L |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,761,890 (GRCm39) |
V1195A |
probably damaging |
Het |
| Agpat5 |
A |
G |
8: 18,931,878 (GRCm39) |
T333A |
possibly damaging |
Het |
| Aspm |
G |
T |
1: 139,392,033 (GRCm39) |
G795C |
probably damaging |
Het |
| Car4 |
C |
A |
11: 84,856,626 (GRCm39) |
Q305K |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,894,672 (GRCm39) |
N612S |
probably benign |
Het |
| Cdc5l |
G |
A |
17: 45,726,511 (GRCm39) |
R354W |
probably damaging |
Het |
| Cdh9 |
G |
A |
15: 16,851,099 (GRCm39) |
V623I |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,964,061 (GRCm39) |
V629A |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,585,329 (GRCm39) |
V1316A |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,712,965 (GRCm39) |
D1721E |
unknown |
Het |
| Cop1 |
T |
A |
1: 159,154,734 (GRCm39) |
F647L |
probably damaging |
Het |
| Corin |
A |
C |
5: 72,500,362 (GRCm39) |
S421A |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,680,833 (GRCm39) |
V587A |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,920,636 (GRCm39) |
V646E |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,643 (GRCm39) |
M203L |
probably benign |
Het |
| Dcdc2c |
T |
A |
12: 28,566,656 (GRCm39) |
K336M |
possibly damaging |
Het |
| Ddx39a |
G |
A |
8: 84,448,950 (GRCm39) |
R275H |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,519 (GRCm39) |
L77P |
probably benign |
Het |
| Des |
A |
G |
1: 75,339,572 (GRCm39) |
N310S |
possibly damaging |
Het |
| Dlk1 |
C |
A |
12: 109,425,764 (GRCm39) |
S212R |
probably benign |
Het |
| Dnajc5b |
A |
G |
3: 19,633,224 (GRCm39) |
E149G |
probably benign |
Het |
| Dpep1 |
A |
T |
8: 123,920,828 (GRCm39) |
I3F |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,753,108 (GRCm39) |
R934S |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,016,925 (GRCm39) |
L676P |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,575 (GRCm39) |
I1311F |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,123,125 (GRCm39) |
M257L |
probably damaging |
Het |
| Gm8674 |
T |
G |
13: 50,055,390 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai3 |
C |
T |
3: 108,030,857 (GRCm39) |
|
probably null |
Het |
| Gtf3a |
A |
G |
5: 146,891,965 (GRCm39) |
D300G |
probably damaging |
Het |
| Haus3 |
A |
T |
5: 34,323,449 (GRCm39) |
V387D |
probably damaging |
Het |
| Hpf1 |
T |
A |
8: 61,346,768 (GRCm39) |
F28I |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,843,967 (GRCm39) |
D147G |
probably damaging |
Het |
| Ibtk |
A |
T |
9: 85,625,743 (GRCm39) |
D2E |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,239,601 (GRCm39) |
I86K |
possibly damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,241 (GRCm39) |
I235F |
probably damaging |
Het |
| Ighv3-8 |
G |
T |
12: 114,286,252 (GRCm39) |
A30E |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,575,949 (GRCm39) |
T252S |
probably damaging |
Het |
| Lrrc4b |
A |
T |
7: 44,110,787 (GRCm39) |
N220Y |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,454,702 (GRCm39) |
T1037A |
possibly damaging |
Het |
| Mbd5 |
A |
T |
2: 49,162,106 (GRCm39) |
I863F |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,570,484 (GRCm39) |
S515T |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,892,864 (GRCm39) |
|
probably null |
Het |
| Neu4 |
G |
A |
1: 93,952,669 (GRCm39) |
R346H |
probably benign |
Het |
| Nxpe5 |
T |
A |
5: 138,238,200 (GRCm39) |
Y253* |
probably null |
Het |
| Olfml2b |
A |
T |
1: 170,477,330 (GRCm39) |
E155V |
probably damaging |
Het |
| Or14a258 |
A |
G |
7: 86,034,867 (GRCm39) |
*334Q |
probably null |
Het |
| Or6a2 |
T |
A |
7: 106,600,111 (GRCm39) |
N319Y |
probably benign |
Het |
| Or8a1b |
T |
A |
9: 37,623,300 (GRCm39) |
I92F |
probably damaging |
Het |
| Pamr1 |
G |
A |
2: 102,417,029 (GRCm39) |
A114T |
probably damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,592,263 (GRCm39) |
N127I |
probably damaging |
Het |
| Pglyrp4 |
C |
T |
3: 90,634,271 (GRCm39) |
L5F |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,747,279 (GRCm39) |
S1667T |
possibly damaging |
Het |
| Qser1 |
A |
T |
2: 104,617,776 (GRCm39) |
V1012E |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rcn3 |
A |
T |
7: 44,736,203 (GRCm39) |
D168E |
probably damaging |
Het |
| Rdh1 |
T |
G |
10: 127,595,832 (GRCm39) |
V9G |
possibly damaging |
Het |
| Rin2 |
A |
G |
2: 145,686,680 (GRCm39) |
T70A |
probably benign |
Het |
| Rnf207 |
T |
C |
4: 152,398,346 (GRCm39) |
D276G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,982,354 (GRCm39) |
S368L |
probably benign |
Het |
| Slc15a5 |
C |
A |
6: 138,056,751 (GRCm39) |
C55F |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,638,212 (GRCm39) |
F213L |
possibly damaging |
Het |
| Snhg16 |
G |
T |
11: 116,562,582 (GRCm39) |
M18I |
probably benign |
Het |
| Spata25 |
C |
T |
2: 164,669,954 (GRCm39) |
G19D |
probably damaging |
Het |
| Tas2r102 |
A |
T |
6: 132,739,360 (GRCm39) |
L89F |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,910 (GRCm39) |
K704E |
probably damaging |
Het |
| Tert |
T |
G |
13: 73,775,473 (GRCm39) |
S75A |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,454,986 (GRCm39) |
L195Q |
possibly damaging |
Het |
| Tmem205 |
A |
C |
9: 21,837,380 (GRCm39) |
Y57* |
probably null |
Het |
| Tomm22 |
A |
G |
15: 79,555,428 (GRCm39) |
R5G |
probably benign |
Het |
| Trav10 |
A |
T |
14: 53,743,515 (GRCm39) |
S39C |
probably benign |
Het |
| Trav6-2 |
T |
A |
14: 52,905,205 (GRCm39) |
N75K |
probably benign |
Het |
| Trio |
T |
C |
15: 27,748,372 (GRCm39) |
S2427G |
probably benign |
Het |
| Ttc41 |
C |
A |
10: 86,580,342 (GRCm39) |
H763N |
possibly damaging |
Het |
| Usp29 |
A |
T |
7: 6,964,583 (GRCm39) |
N142I |
probably damaging |
Het |
| Vmn1r204 |
G |
T |
13: 22,740,912 (GRCm39) |
W181L |
probably damaging |
Het |
| Vmn2r76 |
G |
A |
7: 85,875,267 (GRCm39) |
T570M |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,069,819 (GRCm39) |
L1173P |
probably damaging |
Het |
| Wnt9a |
T |
A |
11: 59,219,396 (GRCm39) |
C141S |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,012,299 (GRCm39) |
I1422L |
probably benign |
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 |
|
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'- CCGCTTAATGCTAGAGGATAAACTG -3'
(R):5'- AGGCACTTCTTTGTAGCAAGTTAC -3'
Sequencing Primer
(F):5'- CTAGAGGATAAACTGCAGTATTGAC -3'
(R):5'- CACTTCTTTGTAGCAAGTTACATGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation