Incidental Mutation 'R1843:Chd5'
| ID |
207413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd5
|
| Ensembl Gene |
ENSMUSG00000005045 |
| Gene Name |
chromodomain helicase DNA binding protein 5 |
| Synonyms |
B230399N07Rik, 4930532L22Rik |
| MMRRC Submission |
039868-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152423108-152474651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152470263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1903
(Y1903F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005175]
[ENSMUST00000030768]
[ENSMUST00000030775]
[ENSMUST00000159840]
[ENSMUST00000160884]
[ENSMUST00000164662]
|
| AlphaFold |
A2A8L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005175
|
| SMART Domains |
Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
| 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: ENSMUST00000030768
|
| SMART Domains |
Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
37 |
342 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030775
AA Change: Y1940F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: Y1940F
| 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 benign
Transcript: ENSMUST00000159840
|
| SMART Domains |
Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
37 |
342 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160884
|
| SMART Domains |
Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
51 |
356 |
7e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164662
AA Change: Y1903F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: Y1903F
| 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: 92.4%
|
| 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 |
|---|
| 4933405L10Rik |
C |
T |
8: 106,435,606 (GRCm39) |
T88M |
probably damaging |
Het |
| 9430038I01Rik |
A |
G |
7: 136,978,795 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
A |
C |
5: 50,118,834 (GRCm39) |
S905A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,692,652 (GRCm39) |
Y1618H |
probably damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,176 (GRCm39) |
T26A |
probably benign |
Het |
| Ankrd13d |
T |
C |
19: 4,321,623 (GRCm39) |
K360E |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,348,751 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,057,602 (GRCm39) |
F2028S |
possibly damaging |
Het |
| Arap3 |
G |
A |
18: 38,108,636 (GRCm39) |
R1265W |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,651,121 (GRCm39) |
Y135H |
probably damaging |
Het |
| Armh3 |
A |
C |
19: 45,963,691 (GRCm39) |
S42R |
probably benign |
Het |
| Atp1a1 |
T |
C |
3: 101,489,333 (GRCm39) |
T760A |
probably benign |
Het |
| Cdc42bpb |
T |
A |
12: 111,289,255 (GRCm39) |
M497L |
probably benign |
Het |
| Ces5a |
C |
T |
8: 94,240,859 (GRCm39) |
V413M |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,737,422 (GRCm39) |
N1500K |
probably benign |
Het |
| Chmp7 |
G |
T |
14: 69,957,248 (GRCm39) |
D303E |
probably benign |
Het |
| Chrnb4 |
A |
T |
9: 54,942,102 (GRCm39) |
Y391N |
possibly damaging |
Het |
| Crtc1 |
T |
C |
8: 70,840,802 (GRCm39) |
T475A |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,865,972 (GRCm39) |
I207T |
probably benign |
Het |
| Dcp1a |
A |
G |
14: 30,240,940 (GRCm39) |
E250G |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,586,398 (GRCm39) |
Q649R |
probably benign |
Het |
| Defb12 |
T |
A |
8: 19,162,754 (GRCm39) |
K59N |
probably damaging |
Het |
| Dpy19l3 |
A |
T |
7: 35,429,185 (GRCm39) |
I85N |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,122,739 (GRCm39) |
|
probably null |
Het |
| Ebi3 |
T |
A |
17: 56,263,679 (GRCm39) |
Y197N |
probably damaging |
Het |
| Emc1 |
G |
A |
4: 139,102,823 (GRCm39) |
R994Q |
probably benign |
Het |
| Ercc6 |
G |
T |
14: 32,268,777 (GRCm39) |
M530I |
probably damaging |
Het |
| Evl |
T |
A |
12: 108,619,255 (GRCm39) |
D70E |
probably damaging |
Het |
| Fbln2 |
A |
G |
6: 91,242,757 (GRCm39) |
N819S |
probably damaging |
Het |
| Foxk2 |
A |
G |
11: 121,176,363 (GRCm39) |
I170V |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,342,943 (GRCm39) |
V159A |
probably damaging |
Het |
| Gm10837 |
A |
G |
14: 122,728,177 (GRCm39) |
T18A |
unknown |
Het |
| Gm12887 |
A |
T |
4: 121,479,227 (GRCm39) |
V25E |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,435,243 (GRCm39) |
H985R |
possibly damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,675,791 (GRCm39) |
Y249H |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,272,878 (GRCm39) |
V2639A |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,157 (GRCm39) |
|
probably null |
Het |
| Invs |
T |
A |
4: 48,422,035 (GRCm39) |
I889N |
probably damaging |
Het |
| Kcnq1 |
A |
T |
7: 142,736,857 (GRCm39) |
M209L |
probably benign |
Het |
| Klra7 |
A |
G |
6: 130,206,957 (GRCm39) |
I48T |
possibly damaging |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrif1 |
T |
A |
3: 106,640,127 (GRCm39) |
V404D |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,063,034 (GRCm39) |
|
probably null |
Het |
| Lypd6 |
T |
A |
2: 50,078,774 (GRCm39) |
I90N |
possibly damaging |
Het |
| Mbp |
A |
G |
18: 82,602,247 (GRCm39) |
D174G |
probably damaging |
Het |
| Megf9 |
G |
T |
4: 70,453,022 (GRCm39) |
P13Q |
probably damaging |
Het |
| Myo15b |
A |
T |
11: 115,760,412 (GRCm39) |
T1155S |
probably benign |
Het |
| Nherf2 |
C |
T |
17: 24,860,693 (GRCm39) |
S150N |
possibly damaging |
Het |
| Nlrp6 |
T |
A |
7: 140,503,006 (GRCm39) |
C371S |
probably damaging |
Het |
| Nosip |
T |
A |
7: 44,726,733 (GRCm39) |
|
probably null |
Het |
| Nox3 |
G |
T |
17: 3,720,153 (GRCm39) |
P344H |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,079,393 (GRCm39) |
V959A |
probably damaging |
Het |
| Or10d1 |
A |
G |
9: 39,484,031 (GRCm39) |
Y175H |
possibly damaging |
Het |
| Or2b2b |
C |
A |
13: 21,858,842 (GRCm39) |
V91L |
probably benign |
Het |
| Or2k2 |
T |
C |
4: 58,785,384 (GRCm39) |
I113V |
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,457,295 (GRCm39) |
I89T |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,440 (GRCm39) |
I211F |
probably damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,347,123 (GRCm39) |
S25A |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Pax7 |
G |
A |
4: 139,511,802 (GRCm39) |
R260C |
probably damaging |
Het |
| Pbrm1 |
A |
T |
14: 30,760,914 (GRCm39) |
I224F |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,325,278 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
T |
C |
12: 82,027,709 (GRCm39) |
L1585P |
probably damaging |
Het |
| Pde4c |
C |
T |
8: 71,200,599 (GRCm39) |
H362Y |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pgm1 |
A |
T |
4: 99,818,675 (GRCm39) |
Q90L |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,271,235 (GRCm39) |
H814R |
probably benign |
Het |
| Pknox2 |
A |
T |
9: 36,866,127 (GRCm39) |
M5K |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,478,701 (GRCm39) |
|
probably null |
Het |
| Polr1b |
A |
G |
2: 128,944,886 (GRCm39) |
I61V |
probably benign |
Het |
| Prelp |
T |
C |
1: 133,842,495 (GRCm39) |
K217E |
probably damaging |
Het |
| Prkce |
C |
T |
17: 86,782,974 (GRCm39) |
Q202* |
probably null |
Het |
| Psmd2 |
T |
G |
16: 20,475,332 (GRCm39) |
M370R |
probably benign |
Het |
| Rimklb |
A |
T |
6: 122,440,968 (GRCm39) |
H68Q |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,420 (GRCm39) |
D312G |
possibly damaging |
Het |
| Rxrg |
A |
T |
1: 167,426,321 (GRCm39) |
M1L |
probably benign |
Het |
| Scrn1 |
A |
G |
6: 54,499,826 (GRCm39) |
F220L |
possibly damaging |
Het |
| Scyl3 |
A |
G |
1: 163,778,244 (GRCm39) |
S461G |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,861,282 (GRCm39) |
T411S |
probably benign |
Het |
| Serpinb6d |
C |
T |
13: 33,855,364 (GRCm39) |
P346L |
probably benign |
Het |
| Shld2 |
A |
G |
14: 33,989,760 (GRCm39) |
I382T |
probably benign |
Het |
| Spg21 |
G |
T |
9: 65,372,618 (GRCm39) |
V17F |
probably damaging |
Het |
| Spink5 |
A |
T |
18: 44,132,958 (GRCm39) |
M525L |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,621,764 (GRCm39) |
T155A |
probably benign |
Het |
| Tchh |
T |
A |
3: 93,354,087 (GRCm39) |
F1176I |
unknown |
Het |
| Tex15 |
T |
A |
8: 34,066,682 (GRCm39) |
D2037E |
probably benign |
Het |
| Tfdp2 |
T |
C |
9: 96,199,857 (GRCm39) |
C392R |
possibly damaging |
Het |
| Tmem30c |
T |
C |
16: 57,097,143 (GRCm39) |
N139S |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,021,568 (GRCm39) |
|
probably null |
Het |
| Trim66 |
T |
C |
7: 109,075,046 (GRCm39) |
E405G |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,187,415 (GRCm39) |
F456I |
probably benign |
Het |
| Tspo2 |
T |
C |
17: 48,755,818 (GRCm39) |
D108G |
possibly damaging |
Het |
| Tyk2 |
A |
T |
9: 21,032,850 (GRCm39) |
C304* |
probably null |
Het |
| Vgll4 |
A |
T |
6: 114,839,756 (GRCm39) |
S185T |
probably benign |
Het |
| Vmn2r94 |
A |
C |
17: 18,464,732 (GRCm39) |
S519R |
probably benign |
Het |
| Vmn2r96 |
T |
G |
17: 18,818,183 (GRCm39) |
S587A |
probably benign |
Het |
| Vps4b |
C |
A |
1: 106,706,712 (GRCm39) |
A287S |
possibly damaging |
Het |
| Yeats2 |
C |
T |
16: 20,048,314 (GRCm39) |
P1332S |
probably benign |
Het |
| Zfp462 |
T |
G |
4: 55,010,010 (GRCm39) |
S659A |
possibly damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
| Zfp764l1 |
A |
C |
7: 126,990,660 (GRCm39) |
D442E |
probably benign |
Het |
| Zswim5 |
G |
T |
4: 116,734,896 (GRCm39) |
E80D |
unknown |
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 |
|
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'- CATCCAGCAGGTCAGGTTTG -3'
(R):5'- TCACCTCAGCTGGAAAGGAG -3'
Sequencing Primer
(F):5'- GTTTGGCCTGCACACTGC -3'
(R):5'- TCAGCTGGAAAGGAGCGCTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation