Incidental Mutation 'R6394:Chd8'
| ID |
515976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd8
|
| Ensembl Gene |
ENSMUSG00000053754 |
| Gene Name |
chromodomain helicase DNA binding protein 8 |
| Synonyms |
Duplin, 5830451P18Rik |
| MMRRC Submission |
044543-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52198151-52257780 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52202585 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 4
(H4Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089752]
[ENSMUST00000149975]
[ENSMUST00000200169]
[ENSMUST00000227897]
|
| AlphaFold |
Q09XV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089752
AA Change: H2270Q
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: H2270Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
607 |
N/A |
INTRINSIC |
|
CHROMO
|
642 |
708 |
1.8e-9 |
SMART |
|
CHROMO
|
724 |
782 |
1.55e-4 |
SMART |
|
DEXDc
|
809 |
1011 |
4.13e-37 |
SMART |
|
HELICc
|
1165 |
1249 |
1.01e-22 |
SMART |
|
low complexity region
|
1335 |
1345 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1441 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
1460 |
1505 |
4e-16 |
BLAST |
|
low complexity region
|
1579 |
1590 |
N/A |
INTRINSIC |
|
low complexity region
|
1703 |
1714 |
N/A |
INTRINSIC |
|
low complexity region
|
1770 |
1785 |
N/A |
INTRINSIC |
|
low complexity region
|
1887 |
1903 |
N/A |
INTRINSIC |
|
low complexity region
|
2063 |
2107 |
N/A |
INTRINSIC |
|
low complexity region
|
2222 |
2239 |
N/A |
INTRINSIC |
|
BRK
|
2312 |
2356 |
1.34e-19 |
SMART |
|
BRK
|
2381 |
2421 |
1.94e-2 |
SMART |
|
low complexity region
|
2452 |
2472 |
N/A |
INTRINSIC |
|
low complexity region
|
2494 |
2510 |
N/A |
INTRINSIC |
|
low complexity region
|
2514 |
2529 |
N/A |
INTRINSIC |
|
low complexity region
|
2538 |
2550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149975
AA Change: H930Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122995
Gene: ENSMUSG00000053754
AA Change: H930Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
93 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
112 |
235 |
9e-40 |
BLAST |
|
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
445 |
N/A |
INTRINSIC |
|
Blast:SANT
|
456 |
515 |
1e-29 |
BLAST |
|
low complexity region
|
547 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
899 |
N/A |
INTRINSIC |
|
BRK
|
972 |
1016 |
1.34e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200169
AA Change: H2270Q
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: H2270Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
607 |
N/A |
INTRINSIC |
|
CHROMO
|
642 |
708 |
1.8e-9 |
SMART |
|
CHROMO
|
724 |
782 |
1.55e-4 |
SMART |
|
DEXDc
|
809 |
1011 |
4.13e-37 |
SMART |
|
HELICc
|
1165 |
1249 |
1.01e-22 |
SMART |
|
low complexity region
|
1335 |
1345 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1441 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
1460 |
1505 |
4e-16 |
BLAST |
|
low complexity region
|
1579 |
1590 |
N/A |
INTRINSIC |
|
low complexity region
|
1703 |
1714 |
N/A |
INTRINSIC |
|
low complexity region
|
1770 |
1785 |
N/A |
INTRINSIC |
|
low complexity region
|
1887 |
1903 |
N/A |
INTRINSIC |
|
low complexity region
|
2063 |
2107 |
N/A |
INTRINSIC |
|
low complexity region
|
2222 |
2239 |
N/A |
INTRINSIC |
|
BRK
|
2312 |
2356 |
1.34e-19 |
SMART |
|
BRK
|
2381 |
2421 |
1.94e-2 |
SMART |
|
low complexity region
|
2452 |
2472 |
N/A |
INTRINSIC |
|
low complexity region
|
2494 |
2510 |
N/A |
INTRINSIC |
|
low complexity region
|
2514 |
2529 |
N/A |
INTRINSIC |
|
low complexity region
|
2538 |
2550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227448
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227897
AA Change: H4Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which is common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. In mammals, this gene has been shown to function in several processes including transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Knockout of this gene causes early embryonic lethality due to widespread apoptosis. Heterozygous loss of function mutations result in autism spectrum disorder-like behaviors that include increased anxiety, repetitive behavior, and altered social behavior. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5. [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 |
|---|
| 1700074P13Rik |
A |
T |
6: 40,921,792 (GRCm38) |
L174* |
probably null |
Het |
| Akap11 |
A |
T |
14: 78,522,589 (GRCm38) |
|
probably null |
Het |
| Alpi |
T |
A |
1: 87,100,706 (GRCm38) |
Y154F |
possibly damaging |
Het |
| Als2 |
A |
T |
1: 59,167,197 (GRCm38) |
F1635I |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,383,849 (GRCm38) |
V60M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,225,637 (GRCm38) |
Y937C |
probably damaging |
Het |
| Brd4 |
C |
A |
17: 32,224,147 (GRCm38) |
E167* |
probably null |
Het |
| Cacna1h |
G |
A |
17: 25,387,481 (GRCm38) |
T1048I |
probably benign |
Het |
| Ccdc113 |
A |
G |
8: 95,557,192 (GRCm38) |
D298G |
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,417,623 (GRCm38) |
N74I |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,313,238 (GRCm38) |
T843A |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,307,590 (GRCm38) |
T621A |
possibly damaging |
Het |
| Clcn3 |
C |
T |
8: 60,941,291 (GRCm38) |
R68Q |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,143,737 (GRCm38) |
N355K |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,155,418 (GRCm38) |
C1100* |
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,168,331 (GRCm38) |
V428E |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,686,786 (GRCm38) |
E317G |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 19,201,163 (GRCm38) |
V432I |
probably damaging |
Het |
| Evc2 |
C |
A |
5: 37,378,275 (GRCm38) |
D431E |
probably damaging |
Het |
| Gcm2 |
T |
G |
13: 41,109,897 (GRCm38) |
T20P |
probably damaging |
Het |
| Gdf9 |
A |
G |
11: 53,436,697 (GRCm38) |
Y160C |
probably damaging |
Het |
| Gm8220 |
A |
G |
14: 44,285,677 (GRCm38) |
|
probably benign |
Het |
| Gm9573 |
A |
T |
17: 35,620,166 (GRCm38) |
|
probably benign |
Het |
| Gpalpp1 |
A |
T |
14: 76,107,412 (GRCm38) |
S44T |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,787,201 (GRCm38) |
Y134C |
probably damaging |
Het |
| Hephl1 |
A |
G |
9: 15,074,101 (GRCm38) |
F753S |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,395,059 (GRCm38) |
T727A |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 56,215,981 (GRCm38) |
E4232G |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,729,015 (GRCm38) |
L726P |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,735,266 (GRCm38) |
|
probably null |
Het |
| Jrkl |
A |
C |
9: 13,245,490 (GRCm38) |
Y55* |
probably null |
Het |
| Kif13a |
C |
T |
13: 46,752,455 (GRCm38) |
V671M |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,914,410 (GRCm38) |
V303A |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,094,830 (GRCm38) |
C423* |
probably null |
Het |
| Klhl29 |
T |
C |
12: 5,137,720 (GRCm38) |
S215G |
probably benign |
Het |
| Lamp5 |
A |
G |
2: 136,061,009 (GRCm38) |
D216G |
possibly damaging |
Het |
| Leo1 |
T |
A |
9: 75,445,470 (GRCm38) |
D98E |
probably benign |
Het |
| Map3k3 |
T |
C |
11: 106,148,883 (GRCm38) |
V283A |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,235,087 (GRCm38) |
K902E |
probably damaging |
Het |
| Mmp1b |
C |
A |
9: 7,386,316 (GRCm38) |
D202Y |
probably benign |
Het |
| Olfr1201 |
C |
T |
2: 88,794,952 (GRCm38) |
T190I |
probably benign |
Het |
| Olfr239 |
G |
A |
17: 33,199,513 (GRCm38) |
G155D |
probably damaging |
Het |
| Olfr488 |
C |
T |
7: 108,255,763 (GRCm38) |
R125H |
possibly damaging |
Het |
| Olfr657 |
T |
A |
7: 104,635,702 (GRCm38) |
N9K |
possibly damaging |
Het |
| Olfr657 |
T |
C |
7: 104,636,027 (GRCm38) |
S118P |
possibly damaging |
Het |
| Olfr816 |
G |
T |
10: 129,911,920 (GRCm38) |
D119E |
probably damaging |
Het |
| Olfr979 |
T |
C |
9: 40,000,705 (GRCm38) |
Q174R |
probably benign |
Het |
| Onecut3 |
A |
G |
10: 80,496,013 (GRCm38) |
I336V |
probably damaging |
Het |
| Oprl1 |
C |
T |
2: 181,719,002 (GRCm38) |
R257C |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,555,954 (GRCm38) |
V207A |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,487,511 (GRCm38) |
H756L |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm38) |
|
probably benign |
Het |
| Phyh |
A |
G |
2: 4,936,003 (GRCm38) |
D238G |
probably benign |
Het |
| Pnliprp2 |
T |
A |
19: 58,761,598 (GRCm38) |
N92K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,524,026 (GRCm38) |
|
probably benign |
Het |
| Ppm1d |
T |
C |
11: 85,339,672 (GRCm38) |
V372A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,144,878 (GRCm38) |
I766N |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,699,724 (GRCm38) |
V175E |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,642,943 (GRCm38) |
K1280* |
probably null |
Het |
| Rbp2 |
T |
A |
9: 98,507,820 (GRCm38) |
V95E |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,769,309 (GRCm38) |
F346L |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,579,904 (GRCm38) |
|
probably benign |
Homo |
| Scn10a |
T |
A |
9: 119,661,320 (GRCm38) |
I519F |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,115,544 (GRCm38) |
V295G |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,736,176 (GRCm38) |
M642K |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,434,097 (GRCm38) |
G243E |
probably damaging |
Het |
| Smg9 |
T |
C |
7: 24,422,307 (GRCm38) |
Y498H |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,041,313 (GRCm38) |
D175G |
probably damaging |
Het |
| Stard7 |
A |
G |
2: 127,284,241 (GRCm38) |
D71G |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,899,231 (GRCm38) |
Y59* |
probably null |
Het |
| Supt6 |
G |
A |
11: 78,231,065 (GRCm38) |
R254C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,990,495 (GRCm38) |
T3817I |
probably benign |
Het |
| Tas2r124 |
T |
A |
6: 132,755,076 (GRCm38) |
I116N |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,255,213 (GRCm38) |
E550D |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 10,040,326 (GRCm38) |
S548P |
probably damaging |
Het |
| Zmynd8 |
C |
A |
2: 165,846,023 (GRCm38) |
E126* |
probably null |
Het |
| Zswim9 |
A |
T |
7: 13,260,963 (GRCm38) |
S422R |
probably damaging |
Het |
|
| Other mutations in Chd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Chd8
|
APN |
14 |
52,226,138 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00694:Chd8
|
APN |
14 |
52,217,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01011:Chd8
|
APN |
14 |
52,231,532 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL01022:Chd8
|
APN |
14 |
52,236,993 (GRCm38) |
missense |
probably benign |
|
|
IGL01066:Chd8
|
APN |
14 |
52,217,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01083:Chd8
|
APN |
14 |
52,221,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01313:Chd8
|
APN |
14 |
52,210,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01396:Chd8
|
APN |
14 |
52,204,587 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01476:Chd8
|
APN |
14 |
52,205,490 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01731:Chd8
|
APN |
14 |
52,212,654 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL01895:Chd8
|
APN |
14 |
52,199,094 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02090:Chd8
|
APN |
14 |
52,227,234 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02344:Chd8
|
APN |
14 |
52,201,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02573:Chd8
|
APN |
14 |
52,219,734 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02601:Chd8
|
APN |
14 |
52,214,300 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02617:Chd8
|
APN |
14 |
52,235,191 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02873:Chd8
|
APN |
14 |
52,222,513 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02974:Chd8
|
APN |
14 |
52,201,701 (GRCm38) |
splice site |
probably null |
|
|
IGL03058:Chd8
|
APN |
14 |
52,218,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03076:Chd8
|
APN |
14 |
52,226,162 (GRCm38) |
splice site |
probably benign |
|
|
IGL03239:Chd8
|
APN |
14 |
52,227,548 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
PIT4431001:Chd8
|
UTSW |
14 |
52,218,249 (GRCm38) |
missense |
probably damaging |
0.98 |
|
PIT4468001:Chd8
|
UTSW |
14 |
52,217,881 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
PIT4468001:Chd8
|
UTSW |
14 |
52,207,996 (GRCm38) |
missense |
probably benign |
|
|
R0006:Chd8
|
UTSW |
14 |
52,235,293 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0006:Chd8
|
UTSW |
14 |
52,235,293 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0022:Chd8
|
UTSW |
14 |
52,232,855 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0115:Chd8
|
UTSW |
14 |
52,237,206 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0131:Chd8
|
UTSW |
14 |
52,205,326 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0131:Chd8
|
UTSW |
14 |
52,205,326 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0132:Chd8
|
UTSW |
14 |
52,205,326 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0419:Chd8
|
UTSW |
14 |
52,204,060 (GRCm38) |
missense |
probably benign |
0.24 |
|
R0440:Chd8
|
UTSW |
14 |
52,204,826 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0452:Chd8
|
UTSW |
14 |
52,214,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0481:Chd8
|
UTSW |
14 |
52,237,206 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0624:Chd8
|
UTSW |
14 |
52,219,757 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0650:Chd8
|
UTSW |
14 |
52,202,304 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0691:Chd8
|
UTSW |
14 |
52,213,433 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0790:Chd8
|
UTSW |
14 |
52,204,025 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0835:Chd8
|
UTSW |
14 |
52,204,025 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1180:Chd8
|
UTSW |
14 |
52,221,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1411:Chd8
|
UTSW |
14 |
52,224,646 (GRCm38) |
missense |
probably benign |
|
|
R1725:Chd8
|
UTSW |
14 |
52,232,573 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1838:Chd8
|
UTSW |
14 |
52,204,883 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1839:Chd8
|
UTSW |
14 |
52,204,883 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1968:Chd8
|
UTSW |
14 |
52,220,993 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2020:Chd8
|
UTSW |
14 |
52,215,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2024:Chd8
|
UTSW |
14 |
52,231,493 (GRCm38) |
missense |
probably benign |
0.23 |
|
R2139:Chd8
|
UTSW |
14 |
52,236,971 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2163:Chd8
|
UTSW |
14 |
52,198,818 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2342:Chd8
|
UTSW |
14 |
52,205,217 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2844:Chd8
|
UTSW |
14 |
52,204,495 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3500:Chd8
|
UTSW |
14 |
52,205,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3861:Chd8
|
UTSW |
14 |
52,237,121 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4154:Chd8
|
UTSW |
14 |
52,207,211 (GRCm38) |
unclassified |
probably benign |
|
|
R4445:Chd8
|
UTSW |
14 |
52,204,527 (GRCm38) |
splice site |
probably null |
|
|
R4628:Chd8
|
UTSW |
14 |
52,206,915 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4779:Chd8
|
UTSW |
14 |
52,231,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4783:Chd8
|
UTSW |
14 |
52,205,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4784:Chd8
|
UTSW |
14 |
52,205,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5001:Chd8
|
UTSW |
14 |
52,203,915 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5280:Chd8
|
UTSW |
14 |
52,205,125 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5331:Chd8
|
UTSW |
14 |
52,202,114 (GRCm38) |
intron |
probably benign |
|
|
R5348:Chd8
|
UTSW |
14 |
52,232,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5375:Chd8
|
UTSW |
14 |
52,204,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5470:Chd8
|
UTSW |
14 |
52,212,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5479:Chd8
|
UTSW |
14 |
52,215,195 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5488:Chd8
|
UTSW |
14 |
52,213,048 (GRCm38) |
intron |
probably benign |
|
|
R5489:Chd8
|
UTSW |
14 |
52,213,048 (GRCm38) |
intron |
probably benign |
|
|
R5499:Chd8
|
UTSW |
14 |
52,204,431 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5988:Chd8
|
UTSW |
14 |
52,217,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6046:Chd8
|
UTSW |
14 |
52,221,071 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R6125:Chd8
|
UTSW |
14 |
52,207,034 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6212:Chd8
|
UTSW |
14 |
52,201,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6337:Chd8
|
UTSW |
14 |
52,204,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6576:Chd8
|
UTSW |
14 |
52,216,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6590:Chd8
|
UTSW |
14 |
52,227,237 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R6690:Chd8
|
UTSW |
14 |
52,227,237 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R6786:Chd8
|
UTSW |
14 |
52,226,668 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6913:Chd8
|
UTSW |
14 |
52,214,494 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7090:Chd8
|
UTSW |
14 |
52,215,220 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7107:Chd8
|
UTSW |
14 |
52,212,672 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7138:Chd8
|
UTSW |
14 |
52,214,498 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7383:Chd8
|
UTSW |
14 |
52,215,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7392:Chd8
|
UTSW |
14 |
52,232,855 (GRCm38) |
missense |
probably benign |
|
|
R7471:Chd8
|
UTSW |
14 |
52,204,112 (GRCm38) |
missense |
probably benign |
|
|
R7625:Chd8
|
UTSW |
14 |
52,237,077 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7790:Chd8
|
UTSW |
14 |
52,226,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7862:Chd8
|
UTSW |
14 |
52,214,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7937:Chd8
|
UTSW |
14 |
52,227,506 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8092:Chd8
|
UTSW |
14 |
52,217,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8237:Chd8
|
UTSW |
14 |
52,213,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8321:Chd8
|
UTSW |
14 |
52,232,567 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8371:Chd8
|
UTSW |
14 |
52,232,818 (GRCm38) |
missense |
probably benign |
|
|
R8425:Chd8
|
UTSW |
14 |
52,210,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8674:Chd8
|
UTSW |
14 |
52,213,006 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8794:Chd8
|
UTSW |
14 |
52,204,447 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8828:Chd8
|
UTSW |
14 |
52,210,580 (GRCm38) |
frame shift |
probably null |
|
|
R8909:Chd8
|
UTSW |
14 |
52,212,932 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9194:Chd8
|
UTSW |
14 |
52,202,193 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9278:Chd8
|
UTSW |
14 |
52,235,170 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9489:Chd8
|
UTSW |
14 |
52,219,598 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9501:Chd8
|
UTSW |
14 |
52,214,588 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9546:Chd8
|
UTSW |
14 |
52,215,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9605:Chd8
|
UTSW |
14 |
52,219,598 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9694:Chd8
|
UTSW |
14 |
52,203,884 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACTTGTTTGGAAGGAGGAG -3'
(R):5'- CTGTATGGAGGCTATTAGTTAAAGGC -3'
Sequencing Primer
(F):5'- CAATGGTAGTCATGAGGAAACTTCCC -3'
(R):5'- GGCATGAAATCTTTCTTAGGAAAAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation