Incidental Mutation 'R1753:Chd5'
ID |
193718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chd5
|
Ensembl Gene |
ENSMUSG00000005045 |
Gene Name |
chromodomain helicase DNA binding protein 5 |
Synonyms |
B230399N07Rik, 4930532L22Rik |
MMRRC Submission |
039785-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1753 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
152423108-152474651 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 152463272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 1451
(S1451F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005175]
[ENSMUST00000030775]
[ENSMUST00000164662]
|
AlphaFold |
A2A8L1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005175
AA Change: S1451F
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000005175 Gene: ENSMUSG00000005045 AA Change: S1451F
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 damaging
Transcript: ENSMUST00000030775
AA Change: S1451F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030775 Gene: ENSMUSG00000005045 AA Change: S1451F
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 |
noncoding transcript
Transcript: ENSMUST00000124423
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164662
AA Change: S1414F
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132600 Gene: ENSMUSG00000005045 AA Change: S1414F
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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
Validation Efficiency |
|
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: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,864,542 (GRCm39) |
F409I |
probably benign |
Het |
Adamts19 |
A |
C |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
Adamts5 |
T |
C |
16: 85,696,240 (GRCm39) |
S306G |
probably damaging |
Het |
Adamts8 |
T |
G |
9: 30,865,910 (GRCm39) |
I486S |
probably benign |
Het |
Adgrg5 |
T |
C |
8: 95,668,680 (GRCm39) |
F499L |
possibly damaging |
Het |
Akr1c21 |
T |
A |
13: 4,627,134 (GRCm39) |
C145* |
probably null |
Het |
Anp32b |
T |
G |
4: 46,460,241 (GRCm39) |
|
probably null |
Het |
Arhgap31 |
A |
G |
16: 38,421,974 (GRCm39) |
V1364A |
possibly damaging |
Het |
C2cd6 |
T |
C |
1: 59,133,992 (GRCm39) |
R10G |
possibly damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,507,352 (GRCm39) |
E367G |
possibly damaging |
Het |
Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
Cd2 |
A |
T |
3: 101,194,815 (GRCm39) |
M91K |
possibly damaging |
Het |
Cdc16 |
C |
A |
8: 13,814,688 (GRCm39) |
Y157* |
probably null |
Het |
Celsr3 |
G |
T |
9: 108,709,056 (GRCm39) |
V1301F |
probably damaging |
Het |
Cep164 |
C |
T |
9: 45,704,235 (GRCm39) |
G961S |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,349,843 (GRCm39) |
V630A |
probably benign |
Het |
Cldn23 |
A |
C |
8: 36,293,140 (GRCm39) |
L116R |
possibly damaging |
Het |
Cngb1 |
A |
T |
8: 96,024,401 (GRCm39) |
|
probably benign |
Het |
Cpb1 |
G |
T |
3: 20,320,405 (GRCm39) |
N151K |
possibly damaging |
Het |
Cpn2 |
A |
G |
16: 30,078,918 (GRCm39) |
F261S |
probably damaging |
Het |
Crlf3 |
A |
C |
11: 79,948,698 (GRCm39) |
V249G |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,207,134 (GRCm39) |
Y1298* |
probably null |
Het |
Cstf2t |
C |
A |
19: 31,061,085 (GRCm39) |
P207Q |
possibly damaging |
Het |
Cym |
A |
C |
3: 107,120,741 (GRCm39) |
L288R |
possibly damaging |
Het |
Cyp2j12 |
C |
T |
4: 96,009,669 (GRCm39) |
|
probably null |
Het |
Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
Dnmt3a |
A |
T |
12: 3,923,342 (GRCm39) |
M181L |
possibly damaging |
Het |
Duox1 |
T |
A |
2: 122,163,910 (GRCm39) |
M859K |
probably damaging |
Het |
Eif2b4 |
A |
T |
5: 31,350,284 (GRCm39) |
S13T |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,298,956 (GRCm39) |
V1448A |
probably benign |
Het |
Esp24 |
A |
G |
17: 39,350,893 (GRCm39) |
E31G |
possibly damaging |
Het |
F2rl2 |
T |
A |
13: 95,837,969 (GRCm39) |
M338K |
probably benign |
Het |
Fbxl9 |
A |
T |
8: 106,039,824 (GRCm39) |
V517E |
probably damaging |
Het |
Fgfbp1 |
A |
C |
5: 44,137,265 (GRCm39) |
L9R |
possibly damaging |
Het |
Gal3st2b |
A |
T |
1: 93,868,338 (GRCm39) |
N188Y |
probably damaging |
Het |
Gpr179 |
G |
C |
11: 97,237,404 (GRCm39) |
C372W |
probably damaging |
Het |
Grn |
T |
G |
11: 102,324,093 (GRCm39) |
C61G |
probably damaging |
Het |
Herc1 |
T |
G |
9: 66,376,292 (GRCm39) |
C3371G |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,409,366 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
Ifi35 |
A |
T |
11: 101,347,461 (GRCm39) |
R31W |
probably damaging |
Het |
Ifit1bl1 |
T |
A |
19: 34,571,260 (GRCm39) |
H399L |
probably benign |
Het |
Irx3 |
G |
A |
8: 92,527,362 (GRCm39) |
P114L |
probably damaging |
Het |
Kat6a |
T |
A |
8: 23,425,813 (GRCm39) |
D1119E |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,741,363 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
T |
16: 22,897,869 (GRCm39) |
H423L |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,326,833 (GRCm39) |
Q1746L |
possibly damaging |
Het |
Lrrc63 |
A |
T |
14: 75,323,784 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
Map3k19 |
A |
G |
1: 127,750,417 (GRCm39) |
M978T |
probably benign |
Het |
Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,686,707 (GRCm39) |
N85D |
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,183,969 (GRCm39) |
D244G |
probably null |
Het |
Mstn |
A |
G |
1: 53,105,717 (GRCm39) |
Y353C |
probably damaging |
Het |
Mx1 |
T |
A |
16: 97,255,358 (GRCm39) |
N232Y |
probably damaging |
Het |
Mycs |
T |
C |
X: 5,380,157 (GRCm39) |
R308G |
probably benign |
Het |
Myh11 |
A |
T |
16: 14,095,734 (GRCm39) |
D9E |
probably benign |
Het |
Nfe2l3 |
A |
T |
6: 51,410,392 (GRCm39) |
Q169L |
probably null |
Het |
Nr5a1 |
G |
T |
2: 38,598,431 (GRCm39) |
T122N |
possibly damaging |
Het |
Nras |
A |
G |
3: 102,966,295 (GRCm39) |
T20A |
probably damaging |
Het |
Obp2b |
T |
A |
2: 25,628,652 (GRCm39) |
|
probably null |
Het |
Or1l4 |
A |
G |
2: 37,091,439 (GRCm39) |
Y62C |
probably damaging |
Het |
Or51g2 |
T |
C |
7: 102,622,263 (GRCm39) |
N312S |
probably benign |
Het |
Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,106 (GRCm39) |
F124L |
probably benign |
Het |
Or9s14 |
G |
A |
1: 92,536,122 (GRCm39) |
V188M |
probably benign |
Het |
Pcdh17 |
A |
T |
14: 84,715,094 (GRCm39) |
T920S |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 94,124,661 (GRCm39) |
D503G |
probably benign |
Het |
Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
Pde6b |
C |
A |
5: 108,536,557 (GRCm39) |
C84* |
probably null |
Het |
Pex1 |
A |
T |
5: 3,680,044 (GRCm39) |
N914I |
probably damaging |
Het |
Pign |
A |
G |
1: 105,517,042 (GRCm39) |
V528A |
possibly damaging |
Het |
Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,112 (GRCm39) |
K489E |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
Radil |
T |
C |
5: 142,481,091 (GRCm39) |
Y572C |
probably damaging |
Het |
Rapgef2 |
A |
G |
3: 78,996,098 (GRCm39) |
I555T |
possibly damaging |
Het |
Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
Rnaset2b |
G |
A |
17: 7,248,506 (GRCm39) |
|
probably null |
Het |
S1pr1 |
A |
G |
3: 115,505,587 (GRCm39) |
S336P |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,925,115 (GRCm39) |
E252G |
possibly damaging |
Het |
Slc34a2 |
A |
T |
5: 53,218,733 (GRCm39) |
I184F |
probably benign |
Het |
Slc35a3 |
A |
G |
3: 116,471,597 (GRCm39) |
V224A |
possibly damaging |
Het |
Slc39a9 |
A |
G |
12: 80,723,976 (GRCm39) |
H211R |
probably damaging |
Het |
Slu7 |
A |
G |
11: 43,330,095 (GRCm39) |
N174S |
probably benign |
Het |
Smarcd3 |
A |
T |
5: 24,800,820 (GRCm39) |
Y131* |
probably null |
Het |
Syne1 |
A |
G |
10: 5,317,621 (GRCm39) |
M491T |
probably benign |
Het |
Tars1 |
G |
A |
15: 11,394,329 (GRCm39) |
Q103* |
probably null |
Het |
Tmem132d |
C |
A |
5: 127,866,919 (GRCm39) |
E660D |
probably benign |
Het |
Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,582,605 (GRCm39) |
M22763L |
probably benign |
Het |
Ubp1 |
A |
T |
9: 113,785,037 (GRCm39) |
I117L |
possibly damaging |
Het |
Usp24 |
T |
A |
4: 106,234,756 (GRCm39) |
H954Q |
probably benign |
Het |
Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
Vmn2r63 |
G |
A |
7: 42,577,669 (GRCm39) |
Q290* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,718 (GRCm39) |
I341T |
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,189,945 (GRCm39) |
T46A |
probably damaging |
Het |
Wdr48 |
G |
T |
9: 119,753,313 (GRCm39) |
E625* |
probably null |
Het |
Wdr6 |
C |
T |
9: 108,452,363 (GRCm39) |
V507I |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,737,328 (GRCm39) |
W287R |
probably benign |
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 |
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 |
R7810:Chd5
|
UTSW |
4 |
152,443,032 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- ACCTCTGGGTTTAAGTGTTCCTTGC -3'
(R):5'- CAGCACTATCCCAAAGAGTATGGGC -3'
Sequencing Primer
(F):5'- GGTTTAAGTGTTCCTTGCTCTTC -3'
(R):5'- GGCGGTATTTTCTATAAATCAGCCC -3'
|
Posted On |
2014-05-23 |