Incidental Mutation 'R4799:Chd2'
| ID |
369335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd2
|
| Ensembl Gene |
ENSMUSG00000078671 |
| Gene Name |
chromodomain helicase DNA binding protein 2 |
| Synonyms |
5630401D06Rik, 2810013C04Rik, 2810040A01Rik |
| MMRRC Submission |
041997-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
R4799 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
73076400-73191494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73134184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 721
(M721K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169922]
|
| AlphaFold |
E9PZM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169922
AA Change: M721K
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126352
Gene: ENSMUSG00000078671
AA Change: M721K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
244 |
N/A |
INTRINSIC |
|
CHROMO
|
260 |
346 |
3.64e-19 |
SMART |
|
CHROMO
|
376 |
449 |
7.99e-16 |
SMART |
|
DEXDc
|
480 |
677 |
1.93e-37 |
SMART |
|
Blast:DEXDc
|
678 |
729 |
2e-18 |
BLAST |
|
low complexity region
|
793 |
806 |
N/A |
INTRINSIC |
|
HELICc
|
821 |
905 |
1.2e-24 |
SMART |
|
Blast:DEXDc
|
960 |
1244 |
4e-63 |
BLAST |
|
PDB:4B4C|A
|
1128 |
1316 |
5e-78 |
PDB |
|
low complexity region
|
1317 |
1329 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1351 |
N/A |
INTRINSIC |
|
low complexity region
|
1389 |
1403 |
N/A |
INTRINSIC |
|
low complexity region
|
1407 |
1441 |
N/A |
INTRINSIC |
|
DUF4208
|
1451 |
1555 |
1.85e-52 |
SMART |
|
low complexity region
|
1557 |
1572 |
N/A |
INTRINSIC |
|
low complexity region
|
1704 |
1729 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200423
|
| Meta Mutation Damage Score |
0.9620 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (122/126) |
| 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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation. Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(169) : Targeted, knock-out(1) Gene trapped(168)
|
| Other mutations in this stock |
Total: 119 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
C |
G |
12: 70,215,838 (GRCm39) |
S170C |
probably damaging |
Het |
| Acads |
T |
A |
5: 115,251,149 (GRCm39) |
T112S |
probably benign |
Het |
| Adgrl1 |
A |
G |
8: 84,662,202 (GRCm39) |
H1021R |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,241,665 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,318,527 (GRCm39) |
K412E |
probably benign |
Het |
| Arid1b |
C |
T |
17: 5,389,496 (GRCm39) |
P1681S |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,260,909 (GRCm39) |
|
probably null |
Het |
| AU040320 |
A |
G |
4: 126,733,462 (GRCm39) |
T661A |
probably benign |
Het |
| Bhmt1b |
C |
A |
18: 87,774,573 (GRCm39) |
A32E |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,082,514 (GRCm39) |
I455M |
probably benign |
Het |
| Capzb |
A |
G |
4: 138,920,310 (GRCm39) |
|
probably benign |
Het |
| Car10 |
G |
A |
11: 93,469,492 (GRCm39) |
V156I |
possibly damaging |
Het |
| Cbs |
T |
A |
17: 31,851,826 (GRCm39) |
D59V |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,377,003 (GRCm39) |
E819G |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,503,613 (GRCm39) |
Q346L |
probably benign |
Het |
| Cdhr4 |
T |
C |
9: 107,875,898 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
C |
T |
5: 123,440,835 (GRCm39) |
H1131Y |
probably benign |
Het |
| Cntnap5b |
G |
A |
1: 100,286,450 (GRCm39) |
G402R |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,182,145 (GRCm39) |
Y120H |
probably damaging |
Het |
| Csf2 |
T |
C |
11: 54,140,306 (GRCm39) |
D44G |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,291,835 (GRCm39) |
Q3330L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,355,869 (GRCm39) |
S1788P |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,811,770 (GRCm39) |
D2486G |
possibly damaging |
Het |
| Cyp2c40 |
A |
T |
19: 39,762,293 (GRCm39) |
S451R |
probably damaging |
Het |
| Cyp51 |
T |
A |
5: 4,133,256 (GRCm39) |
T461S |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,074,768 (GRCm39) |
M164V |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,062,023 (GRCm39) |
I664T |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,796,632 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
A |
T |
10: 62,423,900 (GRCm39) |
D589E |
probably damaging |
Het |
| Dgkb |
C |
T |
12: 38,164,567 (GRCm39) |
R113C |
possibly damaging |
Het |
| Dglucy |
A |
T |
12: 100,816,602 (GRCm39) |
M415L |
probably benign |
Het |
| Efnb2 |
A |
T |
8: 8,673,104 (GRCm39) |
|
probably null |
Het |
| Elp4 |
T |
A |
2: 105,639,612 (GRCm39) |
Q189L |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,773,490 (GRCm39) |
N77S |
probably damaging |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| F2rl1 |
G |
A |
13: 95,650,477 (GRCm39) |
S135F |
possibly damaging |
Het |
| Fam133b |
T |
C |
5: 3,607,815 (GRCm39) |
M65T |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,014,941 (GRCm39) |
V689A |
probably damaging |
Het |
| Fbh1 |
C |
T |
2: 11,760,558 (GRCm39) |
C79Y |
probably damaging |
Het |
| Fbxw7 |
C |
T |
3: 84,811,168 (GRCm39) |
Q98* |
probably null |
Het |
| Flrt3 |
T |
C |
2: 140,502,086 (GRCm39) |
N514S |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,478,857 (GRCm39) |
S438C |
unknown |
Het |
| Gcm2 |
T |
C |
13: 41,256,970 (GRCm39) |
K260E |
possibly damaging |
Het |
| Gm12863 |
C |
T |
4: 118,811,685 (GRCm39) |
|
noncoding transcript |
Het |
| Gpnmb |
G |
T |
6: 49,022,417 (GRCm39) |
|
probably null |
Het |
| Gsap |
C |
A |
5: 21,455,941 (GRCm39) |
N379K |
probably benign |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,181 (GRCm39) |
Y270F |
probably benign |
Het |
| Ift70a2 |
T |
A |
2: 75,807,729 (GRCm39) |
Y261F |
probably benign |
Het |
| Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,226 (GRCm39) |
R180G |
possibly damaging |
Het |
| Lmbrd1 |
G |
A |
1: 24,784,056 (GRCm39) |
|
probably null |
Het |
| Lrrcc1 |
C |
T |
3: 14,601,156 (GRCm39) |
R63* |
probably null |
Het |
| Lyar |
A |
G |
5: 38,382,123 (GRCm39) |
D35G |
probably damaging |
Het |
| Mbd4 |
C |
T |
6: 115,822,283 (GRCm39) |
R442Q |
probably benign |
Het |
| Mib2 |
G |
T |
4: 155,744,229 (GRCm39) |
S144R |
probably benign |
Het |
| Mms22l |
A |
T |
4: 24,580,052 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
G |
A |
11: 4,437,764 (GRCm39) |
H897Y |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
| Nap1l4 |
A |
T |
7: 143,088,200 (GRCm39) |
|
probably null |
Het |
| Ncor2 |
A |
T |
5: 125,114,124 (GRCm39) |
|
probably null |
Het |
| Ndufa7 |
T |
C |
17: 34,057,187 (GRCm39) |
|
probably benign |
Het |
| Ndufs1 |
C |
A |
1: 63,200,108 (GRCm39) |
G268V |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,976,369 (GRCm39) |
V175A |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,466,145 (GRCm39) |
A1528S |
possibly damaging |
Het |
| Or2z8 |
A |
G |
8: 72,811,938 (GRCm39) |
N138S |
probably benign |
Het |
| Or4a79 |
C |
T |
2: 89,551,706 (GRCm39) |
V250I |
probably benign |
Het |
| Or52z1 |
A |
T |
7: 103,436,688 (GRCm39) |
F265L |
possibly damaging |
Het |
| Or7a42 |
T |
G |
10: 78,791,931 (GRCm39) |
D297E |
probably null |
Het |
| Or8k39 |
C |
T |
2: 86,563,018 (GRCm39) |
|
probably null |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,706 (GRCm39) |
D128G |
probably damaging |
Het |
| Pkp4 |
A |
T |
2: 59,172,449 (GRCm39) |
I522F |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,019,654 (GRCm39) |
A398T |
probably benign |
Het |
| Pou4f3 |
A |
G |
18: 42,529,052 (GRCm39) |
M332V |
possibly damaging |
Het |
| Prox1 |
A |
G |
1: 189,885,669 (GRCm39) |
F593L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,692,864 (GRCm39) |
D328G |
probably damaging |
Het |
| Psmd6 |
C |
T |
14: 14,120,126 (GRCm38) |
S71N |
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,009,769 (GRCm39) |
I764T |
probably benign |
Het |
| Ptprr |
C |
T |
10: 115,884,123 (GRCm39) |
A60V |
probably benign |
Het |
| Raet1e |
T |
A |
10: 22,057,199 (GRCm39) |
D174E |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 76,976,018 (GRCm39) |
I308M |
probably benign |
Het |
| Rnf20 |
G |
C |
4: 49,649,962 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
A |
T |
5: 107,768,113 (GRCm39) |
H317L |
probably benign |
Het |
| Rsph6a |
T |
A |
7: 18,799,783 (GRCm39) |
Y471* |
probably null |
Het |
| Sdhb |
A |
G |
4: 140,704,777 (GRCm39) |
H246R |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,452,271 (GRCm39) |
I126L |
probably benign |
Het |
| Skint2 |
G |
A |
4: 112,509,305 (GRCm39) |
A363T |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,321,768 (GRCm39) |
I432T |
probably benign |
Het |
| Slc2a2 |
G |
A |
3: 28,771,681 (GRCm39) |
|
probably null |
Het |
| Slco1a5 |
T |
C |
6: 142,194,533 (GRCm39) |
Y370C |
possibly damaging |
Het |
| Sltm |
A |
G |
9: 70,496,339 (GRCm39) |
H958R |
probably damaging |
Het |
| Smpdl3a |
C |
T |
10: 57,684,111 (GRCm39) |
H290Y |
probably damaging |
Het |
| Snrnp40 |
A |
G |
4: 130,256,549 (GRCm39) |
I91M |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,939,343 (GRCm39) |
F91I |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,939,342 (GRCm39) |
K90N |
possibly damaging |
Het |
| Stox1 |
A |
C |
10: 62,501,516 (GRCm39) |
I348S |
probably damaging |
Het |
| Sult1e1 |
A |
G |
5: 87,738,027 (GRCm39) |
V18A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,945,941 (GRCm39) |
M338V |
probably benign |
Het |
| Tbc1d23 |
T |
A |
16: 57,012,991 (GRCm39) |
Q327L |
probably benign |
Het |
| Terf2 |
G |
T |
8: 107,803,307 (GRCm39) |
H425Q |
probably benign |
Het |
| Timd2 |
A |
T |
11: 46,568,094 (GRCm39) |
Y233* |
probably null |
Het |
| Tmem39a |
A |
G |
16: 38,411,524 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,037,424 (GRCm39) |
D793G |
possibly damaging |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
T |
C |
17: 13,339,782 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,625,813 (GRCm39) |
T123A |
probably damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,369 (GRCm39) |
I198T |
probably benign |
Het |
| Vmn1r213 |
T |
A |
13: 23,196,016 (GRCm39) |
S200T |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,682,891 (GRCm39) |
D771V |
probably damaging |
Het |
| Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,576,863 (GRCm39) |
C1657Y |
probably damaging |
Het |
| Zdhhc5 |
T |
C |
2: 84,523,775 (GRCm39) |
K224E |
probably damaging |
Het |
| Zfp54 |
T |
A |
17: 21,654,402 (GRCm39) |
Y299N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,037,966 (GRCm39) |
L454Q |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,698 (GRCm39) |
F471I |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,830,169 (GRCm39) |
I515V |
probably benign |
Het |
| Zzef1 |
G |
T |
11: 72,750,449 (GRCm39) |
S919I |
probably benign |
Het |
|
| Other mutations in Chd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Chd2
|
APN |
7 |
73,118,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00535:Chd2
|
APN |
7 |
73,190,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00961:Chd2
|
APN |
7 |
73,093,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01092:Chd2
|
APN |
7 |
73,091,434 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02035:Chd2
|
APN |
7 |
73,091,375 (GRCm39) |
splice site |
probably null |
|
|
IGL02083:Chd2
|
APN |
7 |
73,130,816 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02205:Chd2
|
APN |
7 |
73,091,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02243:Chd2
|
APN |
7 |
73,147,456 (GRCm39) |
splice site |
probably null |
|
|
IGL02385:Chd2
|
APN |
7 |
73,085,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02552:Chd2
|
APN |
7 |
73,097,068 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02590:Chd2
|
APN |
7 |
73,102,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02684:Chd2
|
APN |
7 |
73,125,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02731:Chd2
|
APN |
7 |
73,143,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03272:Chd2
|
APN |
7 |
73,102,914 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
1mM(1):Chd2
|
UTSW |
7 |
73,151,852 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
A4554:Chd2
|
UTSW |
7 |
73,130,716 (GRCm39) |
missense |
probably benign |
|
|
F6893:Chd2
|
UTSW |
7 |
73,157,620 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0012:Chd2
|
UTSW |
7 |
73,105,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Chd2
|
UTSW |
7 |
73,105,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Chd2
|
UTSW |
7 |
73,134,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Chd2
|
UTSW |
7 |
73,097,022 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0973:Chd2
|
UTSW |
7 |
73,128,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Chd2
|
UTSW |
7 |
73,128,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Chd2
|
UTSW |
7 |
73,128,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Chd2
|
UTSW |
7 |
73,134,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Chd2
|
UTSW |
7 |
73,102,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1527:Chd2
|
UTSW |
7 |
73,140,362 (GRCm39) |
nonsense |
probably null |
|
|
R1599:Chd2
|
UTSW |
7 |
73,122,799 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1657:Chd2
|
UTSW |
7 |
73,130,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Chd2
|
UTSW |
7 |
73,104,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2110:Chd2
|
UTSW |
7 |
73,079,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2202:Chd2
|
UTSW |
7 |
73,128,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2383:Chd2
|
UTSW |
7 |
73,153,168 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2393:Chd2
|
UTSW |
7 |
73,157,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3699:Chd2
|
UTSW |
7 |
73,118,238 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3713:Chd2
|
UTSW |
7 |
73,121,538 (GRCm39) |
unclassified |
probably benign |
|
|
R3788:Chd2
|
UTSW |
7 |
73,096,878 (GRCm39) |
unclassified |
probably benign |
|
|
R3826:Chd2
|
UTSW |
7 |
73,141,163 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3828:Chd2
|
UTSW |
7 |
73,141,163 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3830:Chd2
|
UTSW |
7 |
73,141,163 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3966:Chd2
|
UTSW |
7 |
73,114,143 (GRCm39) |
splice site |
probably benign |
|
|
R4093:Chd2
|
UTSW |
7 |
73,150,764 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4431:Chd2
|
UTSW |
7 |
73,085,709 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4461:Chd2
|
UTSW |
7 |
73,190,622 (GRCm39) |
intron |
probably benign |
|
|
R4782:Chd2
|
UTSW |
7 |
73,134,184 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4791:Chd2
|
UTSW |
7 |
73,118,325 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4792:Chd2
|
UTSW |
7 |
73,118,325 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4832:Chd2
|
UTSW |
7 |
73,151,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Chd2
|
UTSW |
7 |
73,130,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Chd2
|
UTSW |
7 |
73,079,437 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5328:Chd2
|
UTSW |
7 |
73,113,429 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5444:Chd2
|
UTSW |
7 |
73,122,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Chd2
|
UTSW |
7 |
73,134,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Chd2
|
UTSW |
7 |
73,091,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5670:Chd2
|
UTSW |
7 |
73,091,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5706:Chd2
|
UTSW |
7 |
73,141,105 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5825:Chd2
|
UTSW |
7 |
73,134,350 (GRCm39) |
splice site |
probably null |
|
|
R5834:Chd2
|
UTSW |
7 |
73,128,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Chd2
|
UTSW |
7 |
73,187,060 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6051:Chd2
|
UTSW |
7 |
73,085,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6179:Chd2
|
UTSW |
7 |
73,094,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6229:Chd2
|
UTSW |
7 |
73,101,471 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6267:Chd2
|
UTSW |
7 |
73,113,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6310:Chd2
|
UTSW |
7 |
73,102,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6439:Chd2
|
UTSW |
7 |
73,130,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:Chd2
|
UTSW |
7 |
73,150,785 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6529:Chd2
|
UTSW |
7 |
73,153,191 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6611:Chd2
|
UTSW |
7 |
73,143,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6661:Chd2
|
UTSW |
7 |
73,140,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6782:Chd2
|
UTSW |
7 |
73,125,127 (GRCm39) |
nonsense |
probably null |
|
|
R6860:Chd2
|
UTSW |
7 |
73,147,558 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6955:Chd2
|
UTSW |
7 |
73,125,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Chd2
|
UTSW |
7 |
73,134,159 (GRCm39) |
nonsense |
probably null |
|
|
R7095:Chd2
|
UTSW |
7 |
73,121,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Chd2
|
UTSW |
7 |
73,119,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Chd2
|
UTSW |
7 |
73,125,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:Chd2
|
UTSW |
7 |
73,101,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Chd2
|
UTSW |
7 |
73,091,390 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7646:Chd2
|
UTSW |
7 |
73,085,521 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7764:Chd2
|
UTSW |
7 |
73,121,567 (GRCm39) |
missense |
probably null |
1.00 |
|
R7898:Chd2
|
UTSW |
7 |
73,169,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7935:Chd2
|
UTSW |
7 |
73,149,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8033:Chd2
|
UTSW |
7 |
73,085,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Chd2
|
UTSW |
7 |
73,101,506 (GRCm39) |
missense |
probably benign |
|
|
R8071:Chd2
|
UTSW |
7 |
73,187,132 (GRCm39) |
missense |
probably benign |
|
|
R8188:Chd2
|
UTSW |
7 |
73,079,504 (GRCm39) |
nonsense |
probably null |
|
|
R8196:Chd2
|
UTSW |
7 |
73,118,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8258:Chd2
|
UTSW |
7 |
73,085,532 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8259:Chd2
|
UTSW |
7 |
73,085,532 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8357:Chd2
|
UTSW |
7 |
73,096,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8457:Chd2
|
UTSW |
7 |
73,096,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8778:Chd2
|
UTSW |
7 |
73,079,483 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8816:Chd2
|
UTSW |
7 |
73,140,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Chd2
|
UTSW |
7 |
73,151,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Chd2
|
UTSW |
7 |
73,153,210 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9005:Chd2
|
UTSW |
7 |
73,134,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9009:Chd2
|
UTSW |
7 |
73,143,192 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9009:Chd2
|
UTSW |
7 |
73,140,402 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9021:Chd2
|
UTSW |
7 |
73,091,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9038:Chd2
|
UTSW |
7 |
73,105,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Chd2
|
UTSW |
7 |
73,143,279 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9383:Chd2
|
UTSW |
7 |
73,098,918 (GRCm39) |
missense |
probably null |
1.00 |
|
R9501:Chd2
|
UTSW |
7 |
73,130,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Chd2
|
UTSW |
7 |
73,091,481 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9550:Chd2
|
UTSW |
7 |
73,119,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9583:Chd2
|
UTSW |
7 |
73,130,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9665:Chd2
|
UTSW |
7 |
73,079,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF009:Chd2
|
UTSW |
7 |
73,169,410 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0025:Chd2
|
UTSW |
7 |
73,157,585 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Chd2
|
UTSW |
7 |
73,118,334 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAGATTTACAAGGTTCTAGGC -3'
(R):5'- CATGACGATTTCCTCTGTAGGTTTG -3'
Sequencing Primer
(F):5'- AAGATTTACAAGGTTCTAGGCTTAAC -3'
(R):5'- TGAGTTCTGGGAAGATTTTGAAGAAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation