Incidental Mutation 'R1752:Chd5'
| ID |
193601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd5
|
| Ensembl Gene |
ENSMUSG00000005045 |
| Gene Name |
chromodomain helicase DNA binding protein 5 |
| Synonyms |
B230399N07Rik, 4930532L22Rik |
| MMRRC Submission |
039784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1752 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152423108-152474651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152459590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1109
(I1109F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005175]
[ENSMUST00000030775]
[ENSMUST00000164662]
|
| AlphaFold |
A2A8L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005175
AA Change: I1109F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: I1109F
| 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: I1109F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: I1109F
| 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: I1109F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: I1109F
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,842,468 (GRCm39) |
V1134A |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,688,375 (GRCm39) |
G420S |
probably damaging |
Het |
| Adam29 |
A |
G |
8: 56,325,309 (GRCm39) |
S382P |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,038,766 (GRCm39) |
L393P |
probably benign |
Het |
| Arhgef19 |
T |
G |
4: 140,978,354 (GRCm39) |
S616A |
probably benign |
Het |
| Atp11a |
C |
T |
8: 12,863,094 (GRCm39) |
T91I |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,830,690 (GRCm39) |
V751I |
probably benign |
Het |
| Ccni |
T |
C |
5: 93,350,315 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
G |
A |
3: 101,183,511 (GRCm39) |
A266V |
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,181,722 (GRCm39) |
D146G |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,346,505 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
C |
17: 15,963,494 (GRCm39) |
|
probably null |
Het |
| Cir1 |
T |
C |
2: 73,140,882 (GRCm39) |
E29G |
probably damaging |
Het |
| Clec5a |
T |
C |
6: 40,559,187 (GRCm39) |
T66A |
probably damaging |
Het |
| Cpa2 |
A |
G |
6: 30,552,023 (GRCm39) |
D250G |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,961 (GRCm39) |
L707H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,523,669 (GRCm39) |
T2646A |
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,964,093 (GRCm39) |
R390Q |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,597 (GRCm39) |
I141F |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,713,434 (GRCm39) |
V470I |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,850 (GRCm39) |
V530A |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,854,681 (GRCm39) |
F1528L |
probably damaging |
Het |
| Edn1 |
T |
A |
13: 42,457,075 (GRCm39) |
V36E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,563,404 (GRCm39) |
V319A |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,336,690 (GRCm39) |
K229E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,550,666 (GRCm39) |
N698S |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,776,646 (GRCm39) |
N465S |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,077,622 (GRCm39) |
V793A |
probably benign |
Het |
| Gm9797 |
A |
T |
10: 11,485,287 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b4 |
T |
C |
18: 50,303,834 (GRCm39) |
S436P |
probably benign |
Het |
| Itsn2 |
T |
G |
12: 4,761,950 (GRCm39) |
|
probably null |
Het |
| Kank3 |
T |
C |
17: 34,038,791 (GRCm39) |
V570A |
probably damaging |
Het |
| Kif13a |
A |
T |
13: 46,951,885 (GRCm39) |
F733Y |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,532,586 (GRCm39) |
D1184E |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,764,634 (GRCm39) |
D727G |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,915,736 (GRCm39) |
S504R |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,505,381 (GRCm39) |
T2196A |
possibly damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,914,088 (GRCm39) |
S306P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,377,465 (GRCm39) |
I1490V |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,212,706 (GRCm39) |
W72R |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,651,965 (GRCm39) |
V339A |
probably benign |
Het |
| Mnx1 |
A |
G |
5: 29,682,727 (GRCm39) |
S183P |
unknown |
Het |
| Muc5b |
T |
G |
7: 141,421,488 (GRCm39) |
L4326R |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,032,336 (GRCm39) |
D15G |
possibly damaging |
Het |
| Ncapg2 |
A |
T |
12: 116,390,338 (GRCm39) |
D429V |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,656,511 (GRCm39) |
V42A |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,698,218 (GRCm39) |
C276S |
probably damaging |
Het |
| Nptx2 |
C |
A |
5: 144,492,171 (GRCm39) |
T316N |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,777,600 (GRCm39) |
F135Y |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,837 (GRCm39) |
F57Y |
probably benign |
Het |
| Or4c109 |
C |
A |
2: 88,817,659 (GRCm39) |
A296S |
possibly damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,765 (GRCm39) |
R129S |
probably benign |
Het |
| Osbpl11 |
T |
C |
16: 33,025,205 (GRCm39) |
Y144H |
probably damaging |
Het |
| Pax5 |
T |
C |
4: 44,609,729 (GRCm39) |
Y233C |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,906 (GRCm39) |
N388S |
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,971,085 (GRCm39) |
Q157L |
probably benign |
Het |
| Pnma2 |
A |
C |
14: 67,153,785 (GRCm39) |
M70L |
probably benign |
Het |
| Pogk |
T |
C |
1: 166,235,997 (GRCm39) |
K35E |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,176,895 (GRCm39) |
V1227E |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,441,064 (GRCm39) |
V450E |
probably damaging |
Het |
| Rb1 |
T |
A |
14: 73,525,064 (GRCm39) |
I190F |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,673 (GRCm39) |
Y2243N |
probably damaging |
Het |
| Slc11a2 |
A |
T |
15: 100,303,687 (GRCm39) |
L182Q |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,259 (GRCm39) |
L94P |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,421 (GRCm39) |
F688S |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,455,480 (GRCm39) |
I196F |
probably damaging |
Het |
| Sprn |
G |
A |
7: 139,733,408 (GRCm39) |
|
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,292 (GRCm39) |
D242G |
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,733,017 (GRCm39) |
I111T |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,519,537 (GRCm39) |
Y317F |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,774,884 (GRCm39) |
*798K |
probably null |
Het |
| Sult1c2 |
C |
T |
17: 54,271,777 (GRCm39) |
V137M |
possibly damaging |
Het |
| Synj1 |
T |
C |
16: 90,735,361 (GRCm39) |
T1531A |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,193,885 (GRCm39) |
Y1028* |
probably null |
Het |
| Tax1bp1 |
A |
G |
6: 52,698,398 (GRCm39) |
T37A |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,648,768 (GRCm39) |
D1888V |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,536,311 (GRCm39) |
T1994A |
probably damaging |
Het |
| Tmco3 |
A |
C |
8: 13,341,741 (GRCm39) |
D5A |
probably benign |
Het |
| Tnk1 |
T |
A |
11: 69,747,532 (GRCm39) |
N74I |
possibly damaging |
Het |
| Ttc16 |
A |
T |
2: 32,662,162 (GRCm39) |
S120T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,448 (GRCm39) |
T2153S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,594,606 (GRCm39) |
V20480A |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,251,441 (GRCm39) |
Y539H |
probably damaging |
Het |
| Zar1 |
A |
C |
5: 72,734,715 (GRCm39) |
V168G |
probably damaging |
Het |
| Zcchc9 |
T |
C |
13: 91,953,899 (GRCm39) |
K119E |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,737,863 (GRCm39) |
N410S |
possibly damaging |
Het |
| Zfp605 |
A |
T |
5: 110,271,639 (GRCm39) |
D10V |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,062,479 (GRCm39) |
N107K |
possibly damaging |
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 |
|
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 |
|
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'- GGAATCATAGCTTCTGCCCTTGCC -3'
(R):5'- TGTGTCTTGAACACGCCCTCTG -3'
Sequencing Primer
(F):5'- CTCAGTCAGGGACCTTTGC -3'
(R):5'- CAGGGTCCCCTTTTAGGCTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation