Incidental Mutation 'IGL00775:Champ1'
| ID |
15003 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Champ1
|
| Ensembl Gene |
ENSMUSG00000047710 |
| Gene Name |
chromosome alignment maintaining phosphoprotein 1 |
| Synonyms |
Zfp828, D8Ertd569e, D8Ertd457e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
IGL00775
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13919699-13931637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13929509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 556
(S556P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051870]
[ENSMUST00000128557]
|
| AlphaFold |
Q8K327 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051870
AA Change: S556P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: S556P
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
14 |
37 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
62 |
85 |
2.29e1 |
SMART |
|
internal_repeat_1
|
109 |
278 |
1.19e-9 |
PROSPERO |
|
low complexity region
|
298 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
368 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
373 |
534 |
1.19e-9 |
PROSPERO |
|
low complexity region
|
602 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
699 |
722 |
2.68e1 |
SMART |
|
ZnF_C2H2
|
728 |
750 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
755 |
776 |
2.23e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083883
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128557
AA Change: S556P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: S556P
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
14 |
37 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
62 |
85 |
2.29e1 |
SMART |
|
internal_repeat_1
|
109 |
278 |
5.23e-7 |
PROSPERO |
|
low complexity region
|
298 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
368 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
373 |
534 |
5.23e-7 |
PROSPERO |
|
low complexity region
|
602 |
613 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197610
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with autosomal dominant mental retardation-40. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
G |
7: 119,257,524 (GRCm39) |
N403S |
possibly damaging |
Het |
| Adam32 |
T |
C |
8: 25,411,370 (GRCm39) |
Y92C |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,619,598 (GRCm39) |
G157D |
probably benign |
Het |
| Cfap299 |
T |
C |
5: 98,932,369 (GRCm39) |
Y190H |
probably benign |
Het |
| Dnah8 |
T |
G |
17: 30,986,880 (GRCm39) |
Y3176* |
probably null |
Het |
| Gbp8 |
T |
C |
5: 105,165,711 (GRCm39) |
N314S |
probably damaging |
Het |
| Kif1c |
A |
G |
11: 70,614,960 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,795 (GRCm39) |
V421A |
probably benign |
Het |
| Plag1 |
A |
G |
4: 3,904,055 (GRCm39) |
S379P |
probably damaging |
Het |
| Skint11 |
A |
T |
4: 114,051,889 (GRCm39) |
D79V |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,024,521 (GRCm39) |
T273A |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,620,974 (GRCm39) |
|
probably null |
Het |
| Zscan21 |
C |
A |
5: 138,131,310 (GRCm39) |
S99* |
probably null |
Het |
|
| Other mutations in Champ1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00530:Champ1
|
APN |
8 |
13,929,522 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02451:Champ1
|
APN |
8 |
13,928,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03283:Champ1
|
APN |
8 |
13,928,786 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4810001:Champ1
|
UTSW |
8 |
13,929,234 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0664:Champ1
|
UTSW |
8 |
13,929,485 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2219:Champ1
|
UTSW |
8 |
13,930,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3077:Champ1
|
UTSW |
8 |
13,928,832 (GRCm39) |
missense |
probably benign |
|
|
R3735:Champ1
|
UTSW |
8 |
13,928,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Champ1
|
UTSW |
8 |
13,929,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Champ1
|
UTSW |
8 |
13,928,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4933:Champ1
|
UTSW |
8 |
13,929,137 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5294:Champ1
|
UTSW |
8 |
13,928,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Champ1
|
UTSW |
8 |
13,928,777 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6548:Champ1
|
UTSW |
8 |
13,930,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Champ1
|
UTSW |
8 |
13,928,517 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7467:Champ1
|
UTSW |
8 |
13,928,579 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Champ1
|
UTSW |
8 |
13,929,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Champ1
|
UTSW |
8 |
13,929,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9464:Champ1
|
UTSW |
8 |
13,929,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation