Incidental Mutation 'R6968:Chd4'
| ID |
542103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd4
|
| Ensembl Gene |
ENSMUSG00000063870 |
| Gene Name |
chromodomain helicase DNA binding protein 4 |
| Synonyms |
D6Ertd380e, 9530019N15Rik, Mi-2beta |
| MMRRC Submission |
045078-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125073144-125107554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125085281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 784
(L784Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056889]
[ENSMUST00000112390]
[ENSMUST00000112392]
|
| AlphaFold |
Q6PDQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056889
AA Change: L777Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870
AA Change: L777Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
144 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
156 |
210 |
7.7e-35 |
PFAM |
|
low complexity region
|
217 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
347 |
N/A |
INTRINSIC |
|
PHD
|
365 |
408 |
7.17e-15 |
SMART |
|
RING
|
366 |
407 |
7.46e-1 |
SMART |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
PHD
|
444 |
487 |
4.41e-15 |
SMART |
|
RING
|
445 |
486 |
2.63e0 |
SMART |
|
CHROMO
|
492 |
572 |
8.11e-17 |
SMART |
|
CHROMO
|
613 |
670 |
1.98e-11 |
SMART |
|
low complexity region
|
675 |
694 |
N/A |
INTRINSIC |
|
DEXDc
|
715 |
927 |
2.73e-37 |
SMART |
|
low complexity region
|
1044 |
1056 |
N/A |
INTRINSIC |
|
HELICc
|
1073 |
1157 |
7.61e-27 |
SMART |
|
DUF1087
|
1282 |
1346 |
5.56e-33 |
SMART |
|
DUF1086
|
1359 |
1516 |
4.05e-108 |
SMART |
|
low complexity region
|
1526 |
1540 |
N/A |
INTRINSIC |
|
low complexity region
|
1560 |
1578 |
N/A |
INTRINSIC |
|
low complexity region
|
1590 |
1633 |
N/A |
INTRINSIC |
|
low complexity region
|
1635 |
1653 |
N/A |
INTRINSIC |
|
low complexity region
|
1661 |
1674 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1727 |
1899 |
1.9e-98 |
PFAM |
|
low complexity region
|
1903 |
1915 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112390
AA Change: L784Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870
AA Change: L784Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
151 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
164 |
217 |
2e-28 |
PFAM |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
354 |
N/A |
INTRINSIC |
|
PHD
|
372 |
415 |
7.17e-15 |
SMART |
|
RING
|
373 |
414 |
7.46e-1 |
SMART |
|
low complexity region
|
431 |
450 |
N/A |
INTRINSIC |
|
PHD
|
451 |
494 |
4.41e-15 |
SMART |
|
RING
|
452 |
493 |
2.63e0 |
SMART |
|
CHROMO
|
499 |
579 |
8.11e-17 |
SMART |
|
CHROMO
|
620 |
677 |
1.98e-11 |
SMART |
|
low complexity region
|
682 |
701 |
N/A |
INTRINSIC |
|
DEXDc
|
722 |
934 |
2.73e-37 |
SMART |
|
low complexity region
|
1051 |
1063 |
N/A |
INTRINSIC |
|
HELICc
|
1080 |
1164 |
7.61e-27 |
SMART |
|
DUF1087
|
1289 |
1353 |
5.56e-33 |
SMART |
|
DUF1086
|
1366 |
1523 |
4.05e-108 |
SMART |
|
low complexity region
|
1533 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1567 |
1585 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1640 |
N/A |
INTRINSIC |
|
low complexity region
|
1642 |
1660 |
N/A |
INTRINSIC |
|
low complexity region
|
1668 |
1681 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1735 |
1906 |
4.3e-90 |
PFAM |
|
low complexity region
|
1910 |
1922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112392
AA Change: L764Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870
AA Change: L764Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
144 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
156 |
210 |
1.1e-34 |
PFAM |
|
low complexity region
|
217 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
347 |
N/A |
INTRINSIC |
|
PHD
|
352 |
395 |
7.17e-15 |
SMART |
|
RING
|
353 |
394 |
7.46e-1 |
SMART |
|
low complexity region
|
411 |
430 |
N/A |
INTRINSIC |
|
PHD
|
431 |
474 |
4.41e-15 |
SMART |
|
RING
|
432 |
473 |
2.63e0 |
SMART |
|
CHROMO
|
479 |
559 |
8.11e-17 |
SMART |
|
CHROMO
|
600 |
657 |
1.98e-11 |
SMART |
|
low complexity region
|
662 |
681 |
N/A |
INTRINSIC |
|
DEXDc
|
702 |
914 |
2.73e-37 |
SMART |
|
low complexity region
|
1031 |
1043 |
N/A |
INTRINSIC |
|
HELICc
|
1060 |
1144 |
7.61e-27 |
SMART |
|
DUF1087
|
1269 |
1333 |
5.56e-33 |
SMART |
|
DUF1086
|
1346 |
1503 |
4.05e-108 |
SMART |
|
low complexity region
|
1513 |
1527 |
N/A |
INTRINSIC |
|
low complexity region
|
1547 |
1565 |
N/A |
INTRINSIC |
|
low complexity region
|
1577 |
1620 |
N/A |
INTRINSIC |
|
low complexity region
|
1622 |
1640 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1661 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1714 |
1886 |
2.8e-98 |
PFAM |
|
low complexity region
|
1890 |
1902 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
97% (57/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E3.5 and E4.5, absent blastocoele failure of trophectoderm function and increased apoptosis in blastocysts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
T |
2: 102,919,798 (GRCm39) |
L125F |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,276 (GRCm39) |
V1009A |
probably benign |
Het |
| Asah2 |
A |
T |
19: 31,989,913 (GRCm39) |
I489K |
probably benign |
Het |
| Bace1 |
A |
G |
9: 45,766,263 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,549,840 (GRCm39) |
T348A |
possibly damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,922 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
A |
C |
19: 15,959,102 (GRCm39) |
F111V |
probably benign |
Het |
| Chrna6 |
C |
T |
8: 27,896,683 (GRCm39) |
C398Y |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,275,130 (GRCm39) |
P46L |
probably damaging |
Het |
| Cyp2w1 |
A |
G |
5: 139,339,746 (GRCm39) |
Q112R |
probably damaging |
Het |
| Entpd3 |
A |
T |
9: 120,389,722 (GRCm39) |
E336V |
probably benign |
Het |
| Fbxw28 |
A |
C |
9: 109,159,856 (GRCm39) |
S197A |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,151,308 (GRCm39) |
F118L |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
C |
9: 44,209,282 (GRCm39) |
S306A |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,262,467 (GRCm39) |
V1663E |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,571,086 (GRCm39) |
I125T |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,877,878 (GRCm39) |
E592K |
probably benign |
Het |
| Krt23 |
T |
A |
11: 99,371,900 (GRCm39) |
E317V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,835,857 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,934,586 (GRCm39) |
N152K |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,376,476 (GRCm39) |
|
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,860 (GRCm39) |
T584A |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,957,852 (GRCm39) |
E335G |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,783,433 (GRCm39) |
N925K |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 56,998,758 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,329,499 (GRCm39) |
I239V |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,779,409 (GRCm39) |
D562G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,273,155 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
A |
G |
11: 73,690,205 (GRCm39) |
I126T |
possibly damaging |
Het |
| Ormdl3 |
T |
A |
11: 98,474,941 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,333,977 (GRCm39) |
V97D |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,658 (GRCm39) |
F847L |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,799,612 (GRCm39) |
V722F |
possibly damaging |
Het |
| Rhoh |
A |
G |
5: 66,049,862 (GRCm39) |
D44G |
possibly damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,147 (GRCm39) |
R228C |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Saxo2 |
T |
C |
7: 82,292,969 (GRCm39) |
T43A |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,648 (GRCm39) |
|
probably null |
Het |
| Snap25 |
T |
C |
2: 136,611,690 (GRCm39) |
M64T |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,597,426 (GRCm39) |
N1410S |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,774 (GRCm39) |
I231T |
probably damaging |
Het |
| Stam |
A |
T |
2: 14,120,829 (GRCm39) |
H78L |
probably damaging |
Het |
| Suox |
C |
T |
10: 128,507,702 (GRCm39) |
V109I |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,067,041 (GRCm39) |
R7075G |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,550,217 (GRCm39) |
R482Q |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,781,650 (GRCm39) |
V1440A |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 72,016,608 (GRCm39) |
D655G |
probably damaging |
Het |
| Trgv2 |
A |
T |
13: 19,520,896 (GRCm39) |
I66K |
probably damaging |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,876 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,866 (GRCm39) |
H206L |
probably benign |
Het |
| Zan |
T |
A |
5: 137,460,075 (GRCm39) |
Y1272F |
unknown |
Het |
| Zfp39 |
T |
C |
11: 58,782,306 (GRCm39) |
H152R |
probably benign |
Het |
| Zfp41 |
T |
A |
15: 75,490,310 (GRCm39) |
Y87* |
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,910,654 (GRCm39) |
L314H |
probably damaging |
Het |
|
| Other mutations in Chd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Chd4
|
APN |
6 |
125,086,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00917:Chd4
|
APN |
6 |
125,081,909 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01088:Chd4
|
APN |
6 |
125,099,431 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02005:Chd4
|
APN |
6 |
125,105,779 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02405:Chd4
|
APN |
6 |
125,074,190 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02707:Chd4
|
APN |
6 |
125,085,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Chd4
|
APN |
6 |
125,098,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03001:Chd4
|
APN |
6 |
125,078,529 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
FR4304:Chd4
|
UTSW |
6 |
125,099,107 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Chd4
|
UTSW |
6 |
125,099,102 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Chd4
|
UTSW |
6 |
125,099,096 (GRCm39) |
missense |
probably benign |
0.02 |
|
FR4737:Chd4
|
UTSW |
6 |
125,099,094 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Chd4
|
UTSW |
6 |
125,099,094 (GRCm39) |
unclassified |
probably benign |
|
|
R0311:Chd4
|
UTSW |
6 |
125,078,628 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0414:Chd4
|
UTSW |
6 |
125,084,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Chd4
|
UTSW |
6 |
125,086,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Chd4
|
UTSW |
6 |
125,079,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1342:Chd4
|
UTSW |
6 |
125,074,151 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1651:Chd4
|
UTSW |
6 |
125,100,547 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1850:Chd4
|
UTSW |
6 |
125,098,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2190:Chd4
|
UTSW |
6 |
125,091,260 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2192:Chd4
|
UTSW |
6 |
125,082,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2858:Chd4
|
UTSW |
6 |
125,081,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3406:Chd4
|
UTSW |
6 |
125,098,970 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3431:Chd4
|
UTSW |
6 |
125,097,523 (GRCm39) |
splice site |
probably benign |
|
|
R4330:Chd4
|
UTSW |
6 |
125,078,565 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4394:Chd4
|
UTSW |
6 |
125,098,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4538:Chd4
|
UTSW |
6 |
125,097,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4664:Chd4
|
UTSW |
6 |
125,078,465 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4805:Chd4
|
UTSW |
6 |
125,105,908 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5050:Chd4
|
UTSW |
6 |
125,084,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Chd4
|
UTSW |
6 |
125,077,949 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5232:Chd4
|
UTSW |
6 |
125,098,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Chd4
|
UTSW |
6 |
125,077,551 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5343:Chd4
|
UTSW |
6 |
125,097,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Chd4
|
UTSW |
6 |
125,082,239 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5613:Chd4
|
UTSW |
6 |
125,097,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6211:Chd4
|
UTSW |
6 |
125,078,248 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6606:Chd4
|
UTSW |
6 |
125,086,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6753:Chd4
|
UTSW |
6 |
125,091,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6808:Chd4
|
UTSW |
6 |
125,099,086 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6939:Chd4
|
UTSW |
6 |
125,083,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6973:Chd4
|
UTSW |
6 |
125,099,825 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6992:Chd4
|
UTSW |
6 |
125,091,339 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7058:Chd4
|
UTSW |
6 |
125,085,405 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7081:Chd4
|
UTSW |
6 |
125,106,948 (GRCm39) |
missense |
unknown |
|
|
R7253:Chd4
|
UTSW |
6 |
125,083,555 (GRCm39) |
splice site |
probably null |
|
|
R7423:Chd4
|
UTSW |
6 |
125,105,822 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7535:Chd4
|
UTSW |
6 |
125,105,836 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7566:Chd4
|
UTSW |
6 |
125,078,866 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8053:Chd4
|
UTSW |
6 |
125,105,779 (GRCm39) |
nonsense |
probably null |
|
|
R8155:Chd4
|
UTSW |
6 |
125,082,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8711:Chd4
|
UTSW |
6 |
125,100,485 (GRCm39) |
unclassified |
probably benign |
|
|
R8783:Chd4
|
UTSW |
6 |
125,100,347 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9020:Chd4
|
UTSW |
6 |
125,084,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Chd4
|
UTSW |
6 |
125,090,974 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9417:Chd4
|
UTSW |
6 |
125,097,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9509:Chd4
|
UTSW |
6 |
125,099,485 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
RF046:Chd4
|
UTSW |
6 |
125,099,094 (GRCm39) |
unclassified |
probably benign |
|
|
RF052:Chd4
|
UTSW |
6 |
125,099,108 (GRCm39) |
unclassified |
probably benign |
|
|
RF058:Chd4
|
UTSW |
6 |
125,099,094 (GRCm39) |
unclassified |
probably benign |
|
|
RF060:Chd4
|
UTSW |
6 |
125,099,108 (GRCm39) |
unclassified |
probably benign |
|
|
X0025:Chd4
|
UTSW |
6 |
125,083,430 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Chd4
|
UTSW |
6 |
125,079,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0063:Chd4
|
UTSW |
6 |
125,090,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chd4
|
UTSW |
6 |
125,078,561 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1176:Chd4
|
UTSW |
6 |
125,077,823 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTCACGGTGGGCCTAAG -3'
(R):5'- GTGACTCGCTCAACAGTCTC -3'
Sequencing Primer
(F):5'- CCTAAGAGAGGGATAAATGGCTTTTG -3'
(R):5'- GTCTCCTCCTCCCACACACTAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation