Incidental Mutation 'R8057:Chd5'
| ID |
619439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd5
|
| Ensembl Gene |
ENSMUSG00000005045 |
| Gene Name |
chromodomain helicase DNA binding protein 5 |
| Synonyms |
B230399N07Rik, 4930532L22Rik |
| MMRRC Submission |
067494-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152423108-152474651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152450829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 651
(L651Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005175]
[ENSMUST00000030775]
[ENSMUST00000164662]
|
| AlphaFold |
A2A8L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005175
AA Change: L651Q
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: L651Q
| 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: L651Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: L651Q
| 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: L651Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: L651Q
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,826 (GRCm39) |
L32P |
probably damaging |
Het |
| 4930563M21Rik |
T |
C |
9: 55,916,564 (GRCm39) |
T38A |
unknown |
Het |
| Abcb6 |
T |
C |
1: 75,151,002 (GRCm39) |
N563D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,317,850 (GRCm39) |
F140S |
probably damaging |
Het |
| Arhgap27 |
T |
A |
11: 103,229,519 (GRCm39) |
R296S |
probably damaging |
Het |
| Atxn7l1 |
A |
C |
12: 33,376,001 (GRCm39) |
K98N |
probably damaging |
Het |
| Bex6 |
G |
T |
16: 32,005,224 (GRCm39) |
D11Y |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,228,489 (GRCm39) |
D781G |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,092,936 (GRCm39) |
D800G |
probably benign |
Het |
| Carmil2 |
G |
A |
8: 106,419,008 (GRCm39) |
V716I |
probably benign |
Het |
| Cdk5 |
C |
A |
5: 24,625,782 (GRCm39) |
D144Y |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,880,925 (GRCm39) |
|
probably benign |
Het |
| Cimap1d |
T |
A |
10: 79,475,835 (GRCm39) |
H243L |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,368,233 (GRCm39) |
Q261* |
probably null |
Het |
| Cntnap2 |
T |
A |
6: 46,324,079 (GRCm39) |
F576Y |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,925,263 (GRCm39) |
G815D |
unknown |
Het |
| Col4a4 |
T |
A |
1: 82,501,591 (GRCm39) |
R387S |
unknown |
Het |
| Cse1l |
T |
A |
2: 166,781,845 (GRCm39) |
V663D |
probably damaging |
Het |
| Csf2rb2 |
G |
T |
15: 78,169,206 (GRCm39) |
Q650K |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,497 (GRCm39) |
D696G |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,728,112 (GRCm39) |
C2937S |
possibly damaging |
Het |
| Epha10 |
A |
T |
4: 124,796,476 (GRCm39) |
Q395L |
|
Het |
| Fam167a |
T |
A |
14: 63,689,769 (GRCm39) |
V22E |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gabra4 |
A |
G |
5: 71,781,295 (GRCm39) |
I372T |
probably benign |
Het |
| Gpt |
A |
G |
15: 76,580,972 (GRCm39) |
|
probably benign |
Het |
| H2-K2 |
C |
T |
17: 34,215,833 (GRCm39) |
G336D |
possibly damaging |
Het |
| Hapstr1 |
C |
T |
16: 8,648,232 (GRCm39) |
|
probably benign |
Het |
| Hoxd8 |
T |
C |
2: 74,535,070 (GRCm39) |
|
probably null |
Het |
| Ilrun |
C |
T |
17: 27,986,863 (GRCm39) |
A288T |
unknown |
Het |
| Kdm5d |
T |
G |
Y: 927,355 (GRCm39) |
D658E |
possibly damaging |
Het |
| Krt25 |
G |
A |
11: 99,208,169 (GRCm39) |
T353M |
probably benign |
Het |
| Lonp2 |
T |
C |
8: 87,440,717 (GRCm39) |
L778P |
probably damaging |
Het |
| Lrrc66 |
G |
A |
5: 73,764,875 (GRCm39) |
Q723* |
probably null |
Het |
| Mak |
T |
A |
13: 41,202,813 (GRCm39) |
I212F |
probably damaging |
Het |
| Mastl |
T |
A |
2: 23,023,566 (GRCm39) |
R386W |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,673 (GRCm39) |
I697T |
possibly damaging |
Het |
| Nek5 |
G |
A |
8: 22,578,922 (GRCm39) |
T415I |
probably benign |
Het |
| Neu3 |
T |
A |
7: 99,463,435 (GRCm39) |
N96I |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,107 (GRCm39) |
V153A |
possibly damaging |
Het |
| Or10a3 |
A |
T |
7: 108,480,571 (GRCm39) |
F81I |
probably damaging |
Het |
| Or5b102 |
G |
A |
19: 13,040,638 (GRCm39) |
|
probably benign |
Het |
| Or8b4 |
A |
G |
9: 37,830,460 (GRCm39) |
D169G |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,644,476 (GRCm39) |
T1257A |
probably benign |
Het |
| Pcdh10 |
G |
A |
3: 45,333,694 (GRCm39) |
V3M |
probably benign |
Het |
| Pitpnm1 |
G |
A |
19: 4,162,145 (GRCm39) |
R1017Q |
probably null |
Het |
| Plcb3 |
A |
C |
19: 6,932,463 (GRCm39) |
H1065Q |
probably benign |
Het |
| Plcb3 |
A |
T |
19: 6,936,267 (GRCm39) |
M752K |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,557 (GRCm39) |
E1449G |
probably benign |
Het |
| Plekha4 |
T |
A |
7: 45,198,695 (GRCm39) |
C573S |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,575,638 (GRCm39) |
I304V |
possibly damaging |
Het |
| Pnp2 |
G |
A |
14: 51,201,838 (GRCm39) |
V275I |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,908,644 (GRCm39) |
A490T |
possibly damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,883,354 (GRCm39) |
F56S |
probably damaging |
Het |
| Ptk2 |
GA |
G |
15: 73,170,048 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
C |
A |
1: 6,315,443 (GRCm39) |
R473S |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,976,946 (GRCm39) |
V65A |
probably damaging |
Het |
| Rpl27rt |
T |
C |
18: 34,870,582 (GRCm39) |
F39L |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,055 (GRCm39) |
|
probably null |
Het |
| Samd5 |
C |
T |
10: 9,550,641 (GRCm39) |
V23M |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,345,774 (GRCm39) |
R1117S |
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,497,758 (GRCm39) |
I278L |
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,507,804 (GRCm39) |
P747T |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,269 (GRCm39) |
V823E |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,400,619 (GRCm39) |
N201S |
probably damaging |
Het |
| Slc30a3 |
C |
A |
5: 31,247,395 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
C |
A |
15: 36,523,606 (GRCm39) |
V359F |
probably damaging |
Het |
| Sstr2 |
A |
G |
11: 113,515,099 (GRCm39) |
E6G |
probably benign |
Het |
| Stc2 |
C |
A |
11: 31,317,806 (GRCm39) |
E72* |
probably null |
Het |
| Tead1 |
C |
T |
7: 112,358,721 (GRCm39) |
P11L |
probably benign |
Het |
| Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,118,972 (GRCm39) |
K301* |
probably null |
Het |
| Tns3 |
G |
C |
11: 8,442,773 (GRCm39) |
A530G |
probably benign |
Het |
| Trat1 |
T |
C |
16: 48,562,600 (GRCm39) |
D70G |
probably damaging |
Het |
| Trex1 |
T |
A |
9: 108,887,397 (GRCm39) |
E198V |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,570,072 (GRCm39) |
R26940S |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,867,835 (GRCm39) |
K34R |
possibly damaging |
Het |
| Vps13d |
A |
C |
4: 144,701,753 (GRCm39) |
M4376R |
|
Het |
| Zfp157 |
C |
A |
5: 138,454,336 (GRCm39) |
T178K |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,710,692 (GRCm39) |
V805D |
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 |
|
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 |
|
R7810:Chd5
|
UTSW |
4 |
152,443,032 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CCTGATCAAGTGGAAGGACCTG -3'
(R):5'- AAAAGAGACCCTGCCTCTACTG -3'
Sequencing Primer
(F):5'- AAGTGGAAGGACCTGCCCTAC -3'
(R):5'- TCTACTGCCACACGTAGGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation