Incidental Mutation 'IGL00587:Chchd6'
| ID |
332718 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chchd6
|
| Ensembl Gene |
ENSMUSG00000030086 |
| Gene Name |
coiled-coil-helix-coiled-coil-helix domain containing 6 |
| Synonyms |
1700021B03Rik, Micos25, 0710001P09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL00587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
89360128-89572634 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 89546399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032172]
[ENSMUST00000032172]
[ENSMUST00000113550]
[ENSMUST00000113550]
|
| AlphaFold |
Q91VN4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032172
|
| SMART Domains |
Protein: ENSMUSP00000032172
Gene: ENSMUSG00000030086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
16 |
227 |
1.5e-55 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000032172
|
| SMART Domains |
Protein: ENSMUSP00000032172
Gene: ENSMUSG00000030086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
16 |
227 |
1.5e-55 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113550
|
| SMART Domains |
Protein: ENSMUSP00000109179
Gene: ENSMUSG00000030086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
16 |
179 |
4.8e-47 |
PFAM |
|
Pfam:DUF737
|
173 |
199 |
9.6e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113550
|
| SMART Domains |
Protein: ENSMUSP00000109179
Gene: ENSMUSG00000030086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
16 |
179 |
4.8e-47 |
PFAM |
|
Pfam:DUF737
|
173 |
199 |
9.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204970
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
A |
C |
15: 97,143,327 (GRCm39) |
M365R |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,208,775 (GRCm39) |
D352G |
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,346 (GRCm39) |
T265A |
probably damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,804,225 (GRCm39) |
S43P |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,836,559 (GRCm39) |
R868Q |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,344 (GRCm39) |
S126P |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,711 (GRCm39) |
I794N |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,937,596 (GRCm39) |
S158C |
possibly damaging |
Het |
| Gm14240 |
T |
C |
2: 155,894,870 (GRCm39) |
|
probably null |
Het |
| Itga1 |
C |
A |
13: 115,148,785 (GRCm39) |
V279L |
probably damaging |
Het |
| Kdm1b |
T |
C |
13: 47,222,016 (GRCm39) |
V485A |
probably benign |
Het |
| Mfap3l |
T |
C |
8: 61,124,943 (GRCm39) |
V395A |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,780,974 (GRCm39) |
V57E |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,303 (GRCm39) |
I124K |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,977,550 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,222 (GRCm39) |
|
probably benign |
Het |
| Rab28 |
T |
C |
5: 41,860,799 (GRCm39) |
R52G |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,745 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
G |
A |
2: 140,085,864 (GRCm39) |
L539F |
possibly damaging |
Het |
| Ticam2 |
T |
C |
18: 46,693,880 (GRCm39) |
E69G |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,993 (GRCm39) |
S821R |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,973,511 (GRCm39) |
S379T |
probably benign |
Het |
| Zfp53 |
T |
C |
17: 21,728,600 (GRCm39) |
V211A |
probably benign |
Het |
| Zmym2 |
T |
G |
14: 57,140,817 (GRCm39) |
S219A |
possibly damaging |
Het |
|
| Other mutations in Chchd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02340:Chchd6
|
APN |
6 |
89,396,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02490:Chchd6
|
APN |
6 |
89,361,656 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0557:Chchd6
|
UTSW |
6 |
89,551,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Chchd6
|
UTSW |
6 |
89,361,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Chchd6
|
UTSW |
6 |
89,361,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1619:Chchd6
|
UTSW |
6 |
89,396,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1757:Chchd6
|
UTSW |
6 |
89,361,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Chchd6
|
UTSW |
6 |
89,444,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Chchd6
|
UTSW |
6 |
89,361,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4635:Chchd6
|
UTSW |
6 |
89,444,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Chchd6
|
UTSW |
6 |
89,544,567 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6732:Chchd6
|
UTSW |
6 |
89,551,436 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6869:Chchd6
|
UTSW |
6 |
89,572,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8673:Chchd6
|
UTSW |
6 |
89,546,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9365:Chchd6
|
UTSW |
6 |
89,551,413 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9502:Chchd6
|
UTSW |
6 |
89,396,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation