Incidental Mutation 'IGL00775:Champ1'
ID15003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Champ1
Ensembl Gene ENSMUSG00000047710
Gene Namechromosome alignment maintaining phosphoprotein 1
SynonymsZfp828, D8Ertd457e, D8Ertd569e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.934) question?
Stock #IGL00775
Quality Score
Status
Chromosome8
Chromosomal Location13869641-13881639 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13879509 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik T C 5: 98,784,510 Y190H probably benign Het
Acsm1 A G 7: 119,658,301 N403S possibly damaging Het
Adam32 T C 8: 24,921,354 Y92C probably damaging Het
Ankfy1 G A 11: 72,728,772 G157D probably benign Het
Dnah8 T G 17: 30,767,906 Y3176* probably null Het
Gbp8 T C 5: 105,017,845 N314S probably damaging Het
Kif1c A G 11: 70,724,134 probably null Het
Pcdhb22 T C 18: 37,519,742 V421A probably benign Het
Plag1 A G 4: 3,904,055 S379P probably damaging Het
Skint11 A T 4: 114,194,692 D79V probably damaging Het
Tdp2 A G 13: 24,840,538 T273A probably damaging Het
Utrn A G 10: 12,745,230 probably null Het
Zscan21 C A 5: 138,133,048 S99* probably null Het
Other mutations in Champ1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Champ1 APN 8 13879522 missense possibly damaging 0.68
IGL02451:Champ1 APN 8 13878739 missense probably damaging 1.00
IGL03283:Champ1 APN 8 13878786 missense probably benign 0.04
PIT4810001:Champ1 UTSW 8 13879234 missense probably benign 0.37
R0664:Champ1 UTSW 8 13879485 missense probably damaging 0.96
R2219:Champ1 UTSW 8 13880017 missense probably damaging 1.00
R3077:Champ1 UTSW 8 13878832 missense probably benign
R3735:Champ1 UTSW 8 13878735 missense probably damaging 1.00
R3838:Champ1 UTSW 8 13879939 missense probably damaging 1.00
R4714:Champ1 UTSW 8 13878063 missense probably damaging 1.00
R4933:Champ1 UTSW 8 13879137 missense probably benign 0.14
R5294:Champ1 UTSW 8 13878981 missense probably damaging 1.00
R5893:Champ1 UTSW 8 13878777 missense probably benign 0.08
R6548:Champ1 UTSW 8 13880002 missense probably damaging 1.00
R7261:Champ1 UTSW 8 13878517 missense possibly damaging 0.90
R7467:Champ1 UTSW 8 13878579 missense possibly damaging 0.89
R7747:Champ1 UTSW 8 13879990 missense probably damaging 1.00
Posted On2012-12-06