Incidental Mutation 'R0664:Champ1'
| ID |
61947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Champ1
|
| Ensembl Gene |
ENSMUSG00000047710 |
| Gene Name |
chromosome alignment maintaining phosphoprotein 1 |
| Synonyms |
Zfp828, D8Ertd569e, D8Ertd457e |
| MMRRC Submission |
038849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R0664 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13919699-13931637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13929485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 548
(V548M)
|
| 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: V548M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: V548M
| 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: V548M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: V548M
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
98% (40/41) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
| B020004C17Rik |
G |
A |
14: 57,254,225 (GRCm39) |
R116H |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
| Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
| Gpr55 |
A |
T |
1: 85,868,739 (GRCm39) |
S281T |
probably benign |
Het |
| Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
| Hgfac |
G |
T |
5: 35,205,522 (GRCm39) |
V601F |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,032,170 (GRCm39) |
W545R |
probably damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
| Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
| Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,356,037 (GRCm39) |
D20G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGCCCCAGAAAAGTTCTTGTG -3'
(R):5'- TCGTGTCCAACGTGTCTAAATCTGC -3'
Sequencing Primer
(F):5'- AACGTCTTCTCTGAGACGAG -3'
(R):5'- CAACGTGTCTAAATCTGCTCTGATG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation