Incidental Mutation 'R7810:Chd5'
| ID |
601070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd5
|
| Ensembl Gene |
ENSMUSG00000005045 |
| Gene Name |
chromodomain helicase DNA binding protein 5 |
| Synonyms |
B230399N07Rik, 4930532L22Rik |
| MMRRC Submission |
045865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152423108-152474651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152443032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 278
(K278E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005175]
[ENSMUST00000030775]
[ENSMUST00000164662]
|
| AlphaFold |
A2A8L1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005175
AA Change: K278E
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: K278E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
149 |
203 |
2e-32 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1297 |
1361 |
2.78e-33 |
SMART |
|
DUF1086
|
1374 |
1533 |
5.11e-105 |
SMART |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1685 |
1701 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1729 |
1901 |
1.7e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030775
AA Change: K278E
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: K278E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
150 |
203 |
9e-28 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1297 |
1361 |
2.78e-33 |
SMART |
|
DUF1086
|
1374 |
1533 |
5.11e-105 |
SMART |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1685 |
1701 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1730 |
1901 |
2.8e-93 |
PFAM |
|
low complexity region
|
1922 |
1936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164662
AA Change: K278E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: K278E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
149 |
203 |
1.9e-32 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1260 |
1324 |
2.78e-33 |
SMART |
|
DUF1086
|
1337 |
1496 |
5.11e-105 |
SMART |
|
low complexity region
|
1515 |
1530 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1664 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1692 |
1864 |
1.7e-99 |
PFAM |
|
low complexity region
|
1885 |
1899 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (91/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,105,045 (GRCm39) |
E200G |
probably benign |
Het |
| Ankfy1 |
C |
T |
11: 72,645,281 (GRCm39) |
Q787* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,855,815 (GRCm39) |
H208Q |
probably damaging |
Het |
| Brsk2 |
T |
A |
7: 141,539,157 (GRCm39) |
|
probably null |
Het |
| Cabp5 |
T |
A |
7: 13,132,263 (GRCm39) |
F11I |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,435,964 (GRCm39) |
Y1296H |
probably damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,826,454 (GRCm39) |
V1087A |
probably benign |
Het |
| Cct3 |
C |
T |
3: 88,228,442 (GRCm39) |
T508I |
probably damaging |
Het |
| Ceacam9 |
T |
A |
7: 16,457,658 (GRCm39) |
M57K |
possibly damaging |
Het |
| Ces1f |
T |
C |
8: 93,983,546 (GRCm39) |
E487G |
probably damaging |
Het |
| Cntnap3 |
T |
A |
13: 64,941,122 (GRCm39) |
H286L |
possibly damaging |
Het |
| Dnai7 |
T |
G |
6: 145,140,312 (GRCm39) |
D163A |
probably benign |
Het |
| Efr3a |
G |
T |
15: 65,659,022 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
A |
1: 63,770,851 (GRCm39) |
I69N |
possibly damaging |
Het |
| Flg2 |
T |
C |
3: 93,107,548 (GRCm39) |
I11T |
possibly damaging |
Het |
| Folr2 |
T |
C |
7: 101,490,102 (GRCm39) |
M84V |
possibly damaging |
Het |
| Galnt12 |
T |
C |
4: 47,113,786 (GRCm39) |
F360S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,173,946 (GRCm39) |
V192A |
probably benign |
Het |
| Gas6 |
A |
T |
8: 13,516,809 (GRCm39) |
I563N |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,324,085 (GRCm39) |
F567L |
possibly damaging |
Het |
| Gm12695 |
G |
A |
4: 96,619,608 (GRCm39) |
H423Y |
probably damaging |
Het |
| Gm6902 |
T |
C |
7: 22,973,243 (GRCm39) |
T95A |
probably benign |
Het |
| Gpr155 |
G |
T |
2: 73,212,296 (GRCm39) |
A109D |
probably damaging |
Het |
| Hsdl1 |
T |
C |
8: 120,294,711 (GRCm39) |
D5G |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,455,628 (GRCm39) |
P313S |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,902,527 (GRCm39) |
T390M |
probably damaging |
Het |
| Irx1 |
C |
A |
13: 72,107,917 (GRCm39) |
R255L |
probably benign |
Het |
| Itga2 |
T |
A |
13: 115,002,715 (GRCm39) |
T592S |
probably benign |
Het |
| Kit |
C |
A |
5: 75,769,982 (GRCm39) |
S131R |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,390 (GRCm39) |
T1444A |
unknown |
Het |
| Mapk8ip1 |
C |
T |
2: 92,219,496 (GRCm39) |
E112K |
probably benign |
Het |
| Marveld3 |
T |
C |
8: 110,681,266 (GRCm39) |
I210V |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,295,068 (GRCm39) |
I398L |
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,953,309 (GRCm39) |
I530T |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,452,833 (GRCm39) |
Y26C |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,067,747 (GRCm39) |
S600R |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,076,292 (GRCm39) |
I836V |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,694 (GRCm39) |
D375G |
probably damaging |
Het |
| Napepld |
T |
A |
5: 21,888,263 (GRCm39) |
D62V |
possibly damaging |
Het |
| Nedd9 |
A |
C |
13: 41,465,483 (GRCm39) |
I719S |
possibly damaging |
Het |
| Nes |
T |
A |
3: 87,882,923 (GRCm39) |
M394K |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,231,772 (GRCm39) |
Y1288F |
possibly damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,791,782 (GRCm39) |
C822* |
probably null |
Het |
| Noa1 |
A |
C |
5: 77,457,071 (GRCm39) |
L278R |
probably damaging |
Het |
| Nop16 |
A |
G |
13: 54,737,889 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,268,659 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
A |
T |
14: 50,891,450 (GRCm39) |
Y252F |
probably benign |
Het |
| Or5b12 |
A |
G |
19: 12,897,229 (GRCm39) |
V148A |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,890,962 (GRCm39) |
H117Y |
probably benign |
Het |
| Oxct1 |
A |
T |
15: 4,077,058 (GRCm39) |
E130D |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,676,575 (GRCm39) |
E571G |
possibly damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,278,717 (GRCm39) |
V566M |
probably benign |
Het |
| Pdcd11 |
G |
A |
19: 47,086,659 (GRCm39) |
E222K |
possibly damaging |
Het |
| Pira12 |
C |
A |
7: 3,897,204 (GRCm39) |
C544F |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,578,356 (GRCm39) |
|
probably null |
Het |
| Pogz |
T |
C |
3: 94,777,418 (GRCm39) |
L366P |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,138,086 (GRCm39) |
I145V |
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,320,407 (GRCm39) |
|
probably null |
Het |
| Ptprk |
T |
A |
10: 28,468,853 (GRCm39) |
H1438Q |
probably damaging |
Het |
| Rbm4 |
A |
T |
19: 4,842,650 (GRCm39) |
V63E |
possibly damaging |
Het |
| Sbk2 |
T |
A |
7: 4,961,938 (GRCm39) |
H116L |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,923,434 (GRCm39) |
T352A |
probably benign |
Het |
| Septin9 |
T |
A |
11: 117,250,264 (GRCm39) |
C529* |
probably null |
Het |
| Setx |
T |
A |
2: 29,038,663 (GRCm39) |
V1716D |
probably benign |
Het |
| Slc19a3 |
C |
T |
1: 82,997,162 (GRCm39) |
V349I |
probably benign |
Het |
| Slc27a4 |
C |
A |
2: 29,695,722 (GRCm39) |
R86S |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,696,059 (GRCm39) |
H613R |
possibly damaging |
Het |
| Smoc2 |
A |
G |
17: 14,545,884 (GRCm39) |
R58G |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,254,021 (GRCm39) |
N1243Y |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,996,720 (GRCm39) |
S261P |
unknown |
Het |
| Tab1 |
A |
T |
15: 80,042,999 (GRCm39) |
T398S |
possibly damaging |
Het |
| Tas2r131 |
T |
A |
6: 132,934,705 (GRCm39) |
T35S |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,714 (GRCm39) |
K1412R |
possibly damaging |
Het |
| Tigd4 |
T |
A |
3: 84,502,310 (GRCm39) |
V409E |
possibly damaging |
Het |
| Tlr12 |
T |
C |
4: 128,510,501 (GRCm39) |
Q583R |
probably benign |
Het |
| Tmprss9 |
T |
A |
10: 80,733,145 (GRCm39) |
C894S |
unknown |
Het |
| Topaz1 |
T |
A |
9: 122,578,250 (GRCm39) |
S387T |
probably benign |
Het |
| Tsfm |
T |
C |
10: 126,847,558 (GRCm39) |
R178G |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,902,875 (GRCm39) |
I181T |
probably damaging |
Het |
| Ttyh3 |
T |
A |
5: 140,610,896 (GRCm39) |
K97N |
|
Het |
| Ubr4 |
A |
G |
4: 139,142,394 (GRCm39) |
E38G |
|
Het |
| Ugt2b37 |
T |
C |
5: 87,402,118 (GRCm39) |
Y171C |
probably damaging |
Het |
| Unc5b |
C |
A |
10: 60,601,020 (GRCm39) |
M935I |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,362,314 (GRCm39) |
S1606P |
|
Het |
| Vmn1r195 |
T |
C |
13: 22,463,244 (GRCm39) |
L238P |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,261,081 (GRCm39) |
M419L |
probably benign |
Het |
| Washc2 |
G |
T |
6: 116,236,020 (GRCm39) |
A1164S |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,042,940 (GRCm39) |
M1937K |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,099,265 (GRCm39) |
L261* |
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,559,092 (GRCm39) |
Y285F |
probably benign |
Het |
| Wtap |
A |
G |
17: 13,199,797 (GRCm39) |
L62P |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,170 (GRCm39) |
Y93* |
probably null |
Het |
| Zfp94 |
C |
A |
7: 24,002,498 (GRCm39) |
V315F |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,911,798 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Chd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00537:Chd5
|
APN |
4 |
152,445,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00886:Chd5
|
APN |
4 |
152,444,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00963:Chd5
|
APN |
4 |
152,467,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Chd5
|
APN |
4 |
152,441,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01571:Chd5
|
APN |
4 |
152,468,572 (GRCm39) |
splice site |
probably benign |
|
|
IGL01606:Chd5
|
APN |
4 |
152,445,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01636:Chd5
|
APN |
4 |
152,469,110 (GRCm39) |
nonsense |
probably null |
|
|
IGL02009:Chd5
|
APN |
4 |
152,450,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Chd5
|
APN |
4 |
152,451,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02504:Chd5
|
APN |
4 |
152,447,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02508:Chd5
|
APN |
4 |
152,447,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Chd5
|
APN |
4 |
152,456,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Chd5
|
APN |
4 |
152,440,564 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02612:Chd5
|
APN |
4 |
152,445,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02658:Chd5
|
APN |
4 |
152,445,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Chd5
|
APN |
4 |
152,456,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Chd5
|
APN |
4 |
152,440,530 (GRCm39) |
splice site |
probably benign |
|
|
IGL02871:Chd5
|
APN |
4 |
152,461,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Chd5
|
APN |
4 |
152,470,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02956:Chd5
|
APN |
4 |
152,464,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03286:Chd5
|
APN |
4 |
152,469,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03348:Chd5
|
APN |
4 |
152,461,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03398:Chd5
|
APN |
4 |
152,461,539 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT1430001:Chd5
|
UTSW |
4 |
152,455,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Chd5
|
UTSW |
4 |
152,462,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0079:Chd5
|
UTSW |
4 |
152,470,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Chd5
|
UTSW |
4 |
152,450,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Chd5
|
UTSW |
4 |
152,450,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Chd5
|
UTSW |
4 |
152,467,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0388:Chd5
|
UTSW |
4 |
152,456,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Chd5
|
UTSW |
4 |
152,470,407 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0730:Chd5
|
UTSW |
4 |
152,432,441 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0799:Chd5
|
UTSW |
4 |
152,468,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Chd5
|
UTSW |
4 |
152,440,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Chd5
|
UTSW |
4 |
152,463,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Chd5
|
UTSW |
4 |
152,459,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Chd5
|
UTSW |
4 |
152,463,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Chd5
|
UTSW |
4 |
152,470,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Chd5
|
UTSW |
4 |
152,454,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Chd5
|
UTSW |
4 |
152,462,727 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1859:Chd5
|
UTSW |
4 |
152,464,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1983:Chd5
|
UTSW |
4 |
152,469,123 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2404:Chd5
|
UTSW |
4 |
152,451,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Chd5
|
UTSW |
4 |
152,456,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Chd5
|
UTSW |
4 |
152,456,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3893:Chd5
|
UTSW |
4 |
152,445,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Chd5
|
UTSW |
4 |
152,461,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4707:Chd5
|
UTSW |
4 |
152,445,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Chd5
|
UTSW |
4 |
152,462,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4911:Chd5
|
UTSW |
4 |
152,445,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Chd5
|
UTSW |
4 |
152,450,886 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4926:Chd5
|
UTSW |
4 |
152,467,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5256:Chd5
|
UTSW |
4 |
152,456,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5524:Chd5
|
UTSW |
4 |
152,461,087 (GRCm39) |
missense |
probably benign |
|
|
R5552:Chd5
|
UTSW |
4 |
152,470,272 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5895:Chd5
|
UTSW |
4 |
152,464,389 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5945:Chd5
|
UTSW |
4 |
152,464,408 (GRCm39) |
missense |
probably benign |
|
|
R6007:Chd5
|
UTSW |
4 |
152,463,878 (GRCm39) |
missense |
probably null |
1.00 |
|
R6039:Chd5
|
UTSW |
4 |
152,438,078 (GRCm39) |
small deletion |
probably benign |
|
|
R6039:Chd5
|
UTSW |
4 |
152,438,078 (GRCm39) |
small deletion |
probably benign |
|
|
R6172:Chd5
|
UTSW |
4 |
152,463,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Chd5
|
UTSW |
4 |
152,463,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6323:Chd5
|
UTSW |
4 |
152,451,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6331:Chd5
|
UTSW |
4 |
152,466,865 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6495:Chd5
|
UTSW |
4 |
152,451,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Chd5
|
UTSW |
4 |
152,441,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Chd5
|
UTSW |
4 |
152,462,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6854:Chd5
|
UTSW |
4 |
152,467,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6859:Chd5
|
UTSW |
4 |
152,462,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Chd5
|
UTSW |
4 |
152,458,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Chd5
|
UTSW |
4 |
152,445,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7110:Chd5
|
UTSW |
4 |
152,469,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Chd5
|
UTSW |
4 |
152,447,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7397:Chd5
|
UTSW |
4 |
152,452,469 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7440:Chd5
|
UTSW |
4 |
152,469,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7489:Chd5
|
UTSW |
4 |
152,457,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Chd5
|
UTSW |
4 |
152,450,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Chd5
|
UTSW |
4 |
152,445,448 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8092:Chd5
|
UTSW |
4 |
152,463,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8170:Chd5
|
UTSW |
4 |
152,461,040 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8255:Chd5
|
UTSW |
4 |
152,463,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8348:Chd5
|
UTSW |
4 |
152,445,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8448:Chd5
|
UTSW |
4 |
152,445,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8478:Chd5
|
UTSW |
4 |
152,441,147 (GRCm39) |
nonsense |
probably null |
|
|
R8482:Chd5
|
UTSW |
4 |
152,441,147 (GRCm39) |
nonsense |
probably null |
|
|
R8670:Chd5
|
UTSW |
4 |
152,469,953 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8733:Chd5
|
UTSW |
4 |
152,463,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Chd5
|
UTSW |
4 |
152,450,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8941:Chd5
|
UTSW |
4 |
152,463,305 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8961:Chd5
|
UTSW |
4 |
152,467,489 (GRCm39) |
splice site |
probably benign |
|
|
R9103:Chd5
|
UTSW |
4 |
152,461,444 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9160:Chd5
|
UTSW |
4 |
152,469,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9221:Chd5
|
UTSW |
4 |
152,456,122 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9399:Chd5
|
UTSW |
4 |
152,468,592 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9429:Chd5
|
UTSW |
4 |
152,447,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9635:Chd5
|
UTSW |
4 |
152,461,079 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9783:Chd5
|
UTSW |
4 |
152,458,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chd5
|
UTSW |
4 |
152,462,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGGTGACAGTGCATAC -3'
(R):5'- GGTCAAAACAGTGCTCCCCTTAC -3'
Sequencing Primer
(F):5'- TGACAGTGCATACGGCCAG -3'
(R):5'- GCACAGTCACTGAGAAAACCCTTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation