Incidental Mutation 'IGL00530:Champ1'
| ID |
15004 |
| 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 # |
IGL00530
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13919699-13931637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13929522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 560
(S560L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051870]
[ENSMUST00000128557]
|
| AlphaFold |
Q8K327 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051870
AA Change: S560L
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: S560L
| 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 |
possibly damaging
Transcript: ENSMUST00000128557
AA Change: S560L
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: S560L
| 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: 8 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Hecw2 |
C |
T |
1: 53,892,439 (GRCm39) |
R1186H |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,308,125 (GRCm39) |
S122P |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,207 (GRCm39) |
S480P |
probably damaging |
Het |
| Prdm2 |
G |
T |
4: 142,860,329 (GRCm39) |
P987H |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,417 (GRCm39) |
I312N |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,661,306 (GRCm39) |
I34V |
possibly damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,439 (GRCm39) |
D236V |
probably damaging |
Het |
| Zhx3 |
T |
A |
2: 160,622,761 (GRCm39) |
N469Y |
probably damaging |
Het |
|
| Other mutations in Champ1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Champ1
|
APN |
8 |
13,929,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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