Incidental Mutation 'R4824:Chd1'
| ID |
374269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1
|
| Ensembl Gene |
ENSMUSG00000023852 |
| Gene Name |
chromodomain helicase DNA binding protein 1 |
| Synonyms |
4930525N21Rik |
| MMRRC Submission |
042440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4824 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 15953386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 440
(S440R)
|
| 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: S440R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: S440R
| 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 benign
Transcript: ENSMUST00000173311
AA Change: S440R
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134091
Gene: ENSMUSG00000023852
AA Change: S440R
| 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 |
|
| Meta Mutation Damage Score |
0.0992 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
98% (123/126) |
| 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: 107 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,437 (GRCm39) |
T209A |
probably benign |
Het |
| 1700086D15Rik |
T |
C |
11: 65,043,441 (GRCm39) |
|
probably benign |
Het |
| A130010J15Rik |
G |
A |
1: 192,856,965 (GRCm39) |
V106I |
probably benign |
Het |
| Abca16 |
C |
A |
7: 120,074,702 (GRCm39) |
N580K |
possibly damaging |
Het |
| Actrt2 |
A |
T |
4: 154,751,344 (GRCm39) |
F264Y |
probably damaging |
Het |
| Adh4 |
G |
A |
3: 138,134,807 (GRCm39) |
S327N |
possibly damaging |
Het |
| Alkbh5 |
T |
C |
11: 60,444,697 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
T |
A |
2: 128,470,610 (GRCm39) |
T1507S |
possibly damaging |
Het |
| Anapc2 |
A |
G |
2: 25,167,764 (GRCm39) |
R444G |
probably damaging |
Het |
| Apoh |
G |
T |
11: 108,305,087 (GRCm39) |
W335L |
probably benign |
Het |
| B4galt7 |
A |
T |
13: 55,752,162 (GRCm39) |
H71L |
possibly damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,488 (GRCm39) |
E358G |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,134,956 (GRCm39) |
V7D |
possibly damaging |
Het |
| Brca2 |
T |
C |
5: 150,463,200 (GRCm39) |
F988S |
probably damaging |
Het |
| Brix1 |
A |
G |
15: 10,485,828 (GRCm39) |
V49A |
possibly damaging |
Het |
| Brpf3 |
T |
C |
17: 29,025,460 (GRCm39) |
S178P |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,958,448 (GRCm39) |
Y655C |
possibly damaging |
Het |
| C1rl |
C |
G |
6: 124,486,040 (GRCm39) |
Y470* |
probably null |
Het |
| Cacnb4 |
A |
G |
2: 52,565,822 (GRCm39) |
V21A |
probably benign |
Het |
| Caskin1 |
C |
A |
17: 24,720,103 (GRCm39) |
P437T |
probably benign |
Het |
| Casz1 |
C |
A |
4: 149,029,028 (GRCm39) |
P1158T |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,954,680 (GRCm39) |
Q189L |
probably damaging |
Het |
| Ccr3 |
T |
C |
9: 123,828,809 (GRCm39) |
V48A |
probably damaging |
Het |
| Cebpd |
G |
A |
16: 15,705,978 (GRCm39) |
G264S |
probably benign |
Het |
| Cert1 |
C |
T |
13: 96,752,995 (GRCm39) |
P350S |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,665,997 (GRCm38) |
M1K |
probably null |
Het |
| Clip1 |
T |
A |
5: 123,769,086 (GRCm39) |
E504D |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,082 (GRCm39) |
R1669G |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,269,937 (GRCm39) |
F456I |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,764 (GRCm39) |
M130K |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,133,922 (GRCm39) |
|
probably benign |
Het |
| F11 |
T |
C |
8: 45,708,379 (GRCm39) |
D27G |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,266,412 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 45,442,151 (GRCm39) |
E1151G |
probably damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,652 (GRCm39) |
I204F |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,830,215 (GRCm39) |
V257D |
possibly damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,890,225 (GRCm39) |
C47* |
probably null |
Het |
| Hsd17b6 |
A |
G |
10: 127,829,524 (GRCm39) |
V226A |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,788,764 (GRCm39) |
R151Q |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ido2 |
A |
G |
8: 25,023,875 (GRCm39) |
I321T |
probably benign |
Het |
| Irf2bp2 |
T |
C |
8: 127,318,172 (GRCm39) |
T465A |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,412,815 (GRCm39) |
M34T |
probably damaging |
Het |
| Klhl6 |
C |
T |
16: 19,775,778 (GRCm39) |
R260H |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,928,196 (GRCm39) |
L1231* |
probably null |
Het |
| Lca5l |
A |
C |
16: 95,963,229 (GRCm39) |
Y412* |
probably null |
Het |
| Lipt1 |
T |
C |
1: 37,914,513 (GRCm39) |
S190P |
possibly damaging |
Het |
| Ly6f |
T |
A |
15: 75,143,569 (GRCm39) |
V92D |
probably damaging |
Het |
| Matn4 |
T |
A |
2: 164,235,151 (GRCm39) |
M433L |
probably benign |
Het |
| Mbtd1 |
C |
A |
11: 93,816,528 (GRCm39) |
P370T |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,417,922 (GRCm39) |
C3623S |
probably damaging |
Het |
| Myt1l |
C |
A |
12: 29,899,399 (GRCm39) |
H134N |
probably benign |
Het |
| Nav2 |
A |
T |
7: 49,058,749 (GRCm39) |
|
probably benign |
Het |
| Ndufaf8 |
T |
C |
11: 119,989,992 (GRCm39) |
C35R |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,094,891 (GRCm39) |
T5130I |
possibly damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,079,989 (GRCm39) |
N624S |
possibly damaging |
Het |
| Nr0b2 |
C |
A |
4: 133,283,334 (GRCm39) |
H190Q |
probably damaging |
Het |
| Nrg4 |
A |
G |
9: 55,156,405 (GRCm39) |
|
probably benign |
Het |
| Nup88 |
A |
T |
11: 70,852,450 (GRCm39) |
V215E |
probably benign |
Het |
| Oas2 |
T |
G |
5: 120,876,411 (GRCm39) |
T511P |
probably benign |
Het |
| Or1e25 |
A |
G |
11: 73,493,426 (GRCm39) |
T7A |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,885 (GRCm38) |
S66P |
probably damaging |
Het |
| Or5d14 |
A |
C |
2: 87,880,432 (GRCm39) |
F179V |
probably damaging |
Het |
| Or5w8 |
T |
C |
2: 87,687,621 (GRCm39) |
V34A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,501 (GRCm39) |
N9S |
probably benign |
Het |
| Or9q1 |
A |
C |
19: 13,805,718 (GRCm39) |
L14R |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,823,502 (GRCm39) |
N164K |
probably damaging |
Het |
| Pde4d |
C |
G |
13: 109,253,400 (GRCm39) |
P76A |
probably benign |
Het |
| Phlda1 |
T |
C |
10: 111,343,516 (GRCm39) |
|
probably benign |
Het |
| Plekhh1 |
A |
G |
12: 79,101,577 (GRCm39) |
T216A |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,507 (GRCm39) |
E445V |
possibly damaging |
Het |
| Prom1 |
A |
G |
5: 44,191,732 (GRCm39) |
V337A |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 33,001,743 (GRCm39) |
|
probably benign |
Het |
| Psmd1 |
A |
G |
1: 86,064,820 (GRCm39) |
I951V |
probably benign |
Het |
| Rab35 |
T |
G |
5: 115,781,454 (GRCm39) |
I85M |
possibly damaging |
Het |
| Rad9a |
A |
T |
19: 4,250,536 (GRCm39) |
S93T |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,563,242 (GRCm39) |
C555Y |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,264,719 (GRCm39) |
Q791L |
probably benign |
Het |
| Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
| Sdr16c5 |
C |
T |
4: 4,016,216 (GRCm39) |
W70* |
probably null |
Het |
| Senp3 |
A |
G |
11: 69,568,821 (GRCm39) |
V408A |
probably benign |
Het |
| Sh2d4b |
C |
A |
14: 40,562,301 (GRCm39) |
W288L |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,859,832 (GRCm39) |
D422V |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,645,141 (GRCm39) |
F1104L |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,527,267 (GRCm39) |
K113E |
possibly damaging |
Het |
| Spata3 |
G |
A |
1: 85,952,048 (GRCm39) |
|
probably null |
Het |
| Spata31d1d |
A |
T |
13: 59,877,055 (GRCm39) |
V160E |
possibly damaging |
Het |
| Sprr2f |
A |
G |
3: 92,273,203 (GRCm39) |
M1V |
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,068,295 (GRCm39) |
V1733A |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tardbp |
A |
G |
4: 148,702,050 (GRCm39) |
I295T |
probably benign |
Het |
| Tmem212 |
A |
G |
3: 27,939,157 (GRCm39) |
S110P |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,935,857 (GRCm39) |
Q360* |
probably null |
Het |
| Tnrc6c |
C |
A |
11: 117,613,731 (GRCm39) |
Q630K |
probably damaging |
Het |
| Ttc19 |
G |
A |
11: 62,199,922 (GRCm39) |
R235H |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,553,787 (GRCm39) |
|
probably null |
Het |
| Vmn2r31 |
C |
T |
7: 7,390,062 (GRCm39) |
|
probably null |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,183 (GRCm39) |
|
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,205,485 (GRCm39) |
Y685* |
probably null |
Het |
| Wdr93 |
T |
A |
7: 79,399,817 (GRCm39) |
Y135* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,518,797 (GRCm39) |
I546K |
probably damaging |
Het |
| Zbtb38 |
T |
A |
9: 96,570,254 (GRCm39) |
T277S |
probably benign |
Het |
| Zfp13 |
T |
C |
17: 23,795,797 (GRCm39) |
D258G |
possibly damaging |
Het |
| Zfp397 |
T |
A |
18: 24,093,249 (GRCm39) |
S245T |
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,482,907 (GRCm39) |
Y1695H |
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 |
|
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'- TCACTTGTGTAGCCTTTACTGAG -3'
(R):5'- GCACCACTAGAGAAATATCAGTTC -3'
Sequencing Primer
(F):5'- AGCCTTTACTGAGTATGCCTG -3'
(R):5'- GAGAAATATCAGTTCCTCTAACAGGC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation