Incidental Mutation 'IGL02451:Champ1'
ID 293637
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) question?
Stock # IGL02451
Quality Score
Status
Chromosome 8
Chromosomal Location 13919699-13931637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13928739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 299 (P299Q)
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: P299Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: P299Q

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: P299Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: P299Q

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,561,809 (GRCm39) T126P probably damaging Het
Asic2 T C 11: 80,782,563 (GRCm39) probably benign Het
B430305J03Rik A G 3: 61,271,562 (GRCm39) probably benign Het
Bbs7 A G 3: 36,664,741 (GRCm39) F47L possibly damaging Het
Bcl2l14 G T 6: 134,400,804 (GRCm39) G75V probably benign Het
Btnl4 T C 17: 34,694,901 (GRCm39) H4R probably benign Het
Cimap3 T A 3: 105,921,820 (GRCm39) E34D probably benign Het
Cldnd2 A G 7: 43,091,082 (GRCm39) K5E probably benign Het
Ctr9 T A 7: 110,642,631 (GRCm39) L401* probably null Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Enpp4 A T 17: 44,412,315 (GRCm39) L298H probably damaging Het
Git1 T C 11: 77,391,513 (GRCm39) C222R possibly damaging Het
Gpam T C 19: 55,076,635 (GRCm39) T189A probably damaging Het
Hgfac T G 5: 35,201,158 (GRCm39) probably null Het
Hivep3 T A 4: 119,991,162 (GRCm39) S2221T probably damaging Het
Ifi47 T C 11: 48,986,604 (GRCm39) Y124H probably damaging Het
Il1a T C 2: 129,148,575 (GRCm39) E45G probably damaging Het
Itga11 T A 9: 62,642,635 (GRCm39) I186N probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Mapk13 A G 17: 28,995,387 (GRCm39) T203A probably damaging Het
Mrpl37 T A 4: 106,923,839 (GRCm39) I52F probably damaging Het
Mtrex C T 13: 113,027,881 (GRCm39) V660M probably damaging Het
Nr1i2 A G 16: 38,069,654 (GRCm39) F417L probably benign Het
Or10ag59 T A 2: 87,405,576 (GRCm39) S49R probably benign Het
Or6c215 G A 10: 129,637,702 (GRCm39) Q231* probably null Het
Osbpl1a T C 18: 13,047,550 (GRCm39) probably benign Het
Parg C T 14: 31,964,186 (GRCm39) T112M probably damaging Het
Pou6f1 T C 15: 100,477,821 (GRCm39) T166A possibly damaging Het
Prtg A G 9: 72,764,281 (GRCm39) I585V possibly damaging Het
Ptpru T G 4: 131,504,086 (GRCm39) probably benign Het
Rab6a T C 7: 100,285,970 (GRCm39) probably null Het
Rnf207 C T 4: 152,396,869 (GRCm39) R425H probably benign Het
Rusf1 A G 7: 127,875,582 (GRCm39) L257P probably damaging Het
Slc27a2 A G 2: 126,420,912 (GRCm39) M468V probably benign Het
Slc30a1 A G 1: 191,639,441 (GRCm39) H108R possibly damaging Het
Sned1 A G 1: 93,163,930 (GRCm39) probably benign Het
Sptbn4 A T 7: 27,065,014 (GRCm39) F2095Y probably null Het
Sspo A T 6: 48,437,237 (GRCm39) probably benign Het
Tbx19 A G 1: 164,967,740 (GRCm39) S336P probably benign Het
Tmem101 T A 11: 102,044,119 (GRCm39) D256V probably damaging Het
Trbv20 T G 6: 41,165,210 (GRCm39) L2V unknown Het
Trpc7 A G 13: 56,970,274 (GRCm39) S382P probably damaging Het
Tut4 C A 4: 108,386,473 (GRCm39) Y1114* probably null Het
Uhmk1 T C 1: 170,040,095 (GRCm39) T91A possibly damaging Het
Vmn2r10 T A 5: 109,143,788 (GRCm39) R721* probably null Het
Vmn2r94 T A 17: 18,478,453 (GRCm39) Y98F possibly damaging Het
Zfp532 A G 18: 65,756,672 (GRCm39) R202G probably damaging Het
Zfp827 T C 8: 79,787,601 (GRCm39) S256P probably damaging Het
Zzef1 T C 11: 72,792,214 (GRCm39) I2266T probably damaging Het
Other mutations in Champ1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16