Incidental Mutation 'R3838:Champ1'
ID 276994
Institutional Source Beutler Lab
Gene Symbol Champ1
Ensembl Gene ENSMUSG00000047710
Gene Name chromosome alignment maintaining phosphoprotein 1
Synonyms Zfp828, D8Ertd569e, D8Ertd457e
MMRRC Submission 040779-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R3838 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13919699-13931637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13929939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 699 (Y699C)
Ref Sequence ENSEMBL: ENSMUSP00000120117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033839] [ENSMUST00000051870] [ENSMUST00000128557]
AlphaFold Q8K327
Predicted Effect probably benign
Transcript: ENSMUST00000033839
SMART Domains Protein: ENSMUSP00000033839
Gene: ENSMUSG00000031458

DomainStartEndE-ValueType
Pfam:COPR5 24 173 1.3e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000051870
AA Change: Y699C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: Y699C

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: Y699C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: Y699C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210249
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,993,041 (GRCm39) Y213H probably damaging Het
Alg8 C T 7: 97,037,752 (GRCm39) H379Y probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Arid4a A G 12: 71,122,559 (GRCm39) E980G possibly damaging Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
Bud13 A C 9: 46,201,490 (GRCm39) Q387P possibly damaging Het
Clstn1 A G 4: 149,722,790 (GRCm39) E476G probably damaging Het
Col2a1 T C 15: 97,886,857 (GRCm39) D345G unknown Het
Col2a1 A T 15: 97,898,462 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Dock4 G T 12: 40,844,623 (GRCm39) probably null Het
Epx A T 11: 87,765,656 (GRCm39) L101Q probably damaging Het
F13a1 A T 13: 37,231,398 (GRCm39) N21K probably damaging Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Foxj3 T A 4: 119,473,821 (GRCm39) H215Q possibly damaging Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn2 T C 2: 31,303,419 (GRCm39) L3020P probably damaging Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Ighmbp2 T C 19: 3,321,658 (GRCm39) Y367C probably benign Het
Lrrc14b A G 13: 74,511,664 (GRCm39) C139R possibly damaging Het
Lsamp A T 16: 41,954,675 (GRCm39) E174V possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Myh7b A G 2: 155,474,909 (GRCm39) K1816E probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nme2 T A 11: 93,840,803 (GRCm39) E252D probably benign Het
Ntpcr G A 8: 126,464,111 (GRCm39) V79M probably damaging Het
Ogdh C T 11: 6,288,627 (GRCm39) R235* probably null Het
Or10d1 A G 9: 39,484,267 (GRCm39) V96A probably benign Het
Or10w1 A G 19: 13,632,321 (GRCm39) D176G probably benign Het
Or9k2 C A 10: 129,998,275 (GRCm39) E307* probably null Het
P3r3urf A G 4: 116,030,718 (GRCm39) T41A probably benign Het
Pcdh20 T C 14: 88,705,899 (GRCm39) N467S probably benign Het
Pkhd1 G A 1: 20,604,853 (GRCm39) T1154I possibly damaging Het
Polq G T 16: 36,898,711 (GRCm39) R2157I probably damaging Het
Reep6 C A 10: 80,171,723 (GRCm39) A533E probably damaging Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Septin11 T A 5: 93,296,258 (GRCm39) I52N probably damaging Het
Shld2 T C 14: 33,967,325 (GRCm39) D77G probably benign Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Spdye4b C T 5: 143,178,084 (GRCm39) T11I probably benign Het
Srrt C T 5: 137,300,387 (GRCm39) probably null Het
Sspo T A 6: 48,457,754 (GRCm39) C3085S probably damaging Het
Stim1 C T 7: 102,060,503 (GRCm39) T182I possibly damaging Het
Thbs2 C A 17: 14,908,113 (GRCm39) V217L probably benign Het
Thpo G A 16: 20,547,498 (GRCm39) R38C probably damaging Het
Tmem210 A G 2: 25,178,444 (GRCm39) E35G possibly damaging Het
Trim12c T A 7: 103,990,075 (GRCm39) probably benign Het
Tvp23b A G 11: 62,774,455 (GRCm39) H33R possibly damaging Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r73 A G 7: 85,507,258 (GRCm39) W685R probably benign Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Zfp715 A G 7: 42,949,180 (GRCm39) V260A probably benign 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
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
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'- CAGTAGCAGTGAATACATCAGAGC -3'
(R):5'- TAAGTAAACTCTGCCCGTGGG -3'

Sequencing Primer
(F):5'- CAGATTTAGACACGTTGGACAC -3'
(R):5'- GCTGCTACGTGGTTTTTAAGAAGAG -3'
Posted On 2015-04-06