Incidental Mutation 'R4933:Champ1'
ID 380724
Institutional Source Beutler Lab
Gene Symbol Champ1
Ensembl Gene ENSMUSG00000047710
Gene Name chromosome alignment maintaining phosphoprotein 1
Synonyms Zfp828, D8Ertd457e, D8Ertd569e
MMRRC Submission 042533-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock # R4933 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13869641-13881639 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13879137 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 432 (S432T)
Ref Sequence ENSEMBL: ENSMUSP00000120117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051870] [ENSMUST00000128557]
AlphaFold Q8K327
Predicted Effect probably benign
Transcript: ENSMUST00000051870
AA Change: S432T

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: S432T

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 benign
Transcript: ENSMUST00000128557
AA Change: S432T

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: S432T

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
Meta Mutation Damage Score 0.0623 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 97% (73/75)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,626,802 E643G probably damaging Het
4430402I18Rik G T 19: 28,941,775 H195N possibly damaging Het
Abca2 T C 2: 25,444,827 V1937A probably benign Het
Acot10 A T 15: 20,666,330 N108K possibly damaging Het
Agtpbp1 A T 13: 59,500,572 M478K probably benign Het
Akirin1 G A 4: 123,736,858 S191F probably damaging Het
Aurkb T C 11: 69,048,144 probably benign Het
Cabyr T C 18: 12,744,492 probably benign Het
Ccp110 A G 7: 118,725,319 E688G probably damaging Het
Crybg1 T A 10: 43,999,213 N633I probably damaging Het
Dagla A T 19: 10,269,715 probably null Het
Dkkl1 A T 7: 45,211,525 L10Q probably null Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
E430018J23Rik A G 7: 127,393,349 Y30H probably damaging Het
Fndc7 G T 3: 108,876,670 Q208K probably benign Het
Gins4 A T 8: 23,234,780 C53S probably damaging Het
Gja8 T A 3: 96,919,035 probably benign Het
Golph3l T A 3: 95,617,423 N328K probably benign Het
Haus6 A C 4: 86,585,287 probably benign Het
Hdac5 A G 11: 102,200,563 probably benign Het
Ide A G 19: 37,277,756 Y883H unknown Het
Igf2r A G 17: 12,691,877 probably null Het
Kdm3b T C 18: 34,810,393 Y723H probably damaging Het
Kif21b G A 1: 136,151,325 probably null Het
Lancl1 A T 1: 67,021,034 N77K probably benign Het
Lyst T A 13: 13,637,764 N920K probably damaging Het
Lyst G A 13: 13,759,378 V3554I probably benign Het
Map1a G A 2: 121,305,905 A2163T probably damaging Het
Mapk7 G T 11: 61,493,908 probably benign Het
Myo10 C A 15: 25,781,118 Q154K probably damaging Het
Olfr13 C T 6: 43,174,321 L112F probably benign Het
Olfr132 A G 17: 38,130,550 I214T probably damaging Het
Pcdhgb2 G A 18: 37,692,214 V753M probably benign Het
Pnn T A 12: 59,070,227 L195Q probably damaging Het
Pot1a A G 6: 25,771,541 V227A possibly damaging Het
Ppp1r21 T A 17: 88,547,621 D109E probably benign Het
Prr15l G A 11: 96,934,762 G73S probably damaging Het
Rnf148 A G 6: 23,654,340 F219S probably benign Het
Rnpep C A 1: 135,267,026 probably benign Het
Ryr1 T C 7: 29,104,298 T643A probably damaging Het
Ryr2 A T 13: 11,945,945 C36S probably damaging Het
Shc3 G T 13: 51,442,769 T406N probably benign Het
Slit3 G T 11: 35,688,593 G1199V probably damaging Het
Sptbn5 G A 2: 120,050,120 noncoding transcript Het
St8sia6 T C 2: 13,665,442 N236D probably damaging Het
Stpg1 A T 4: 135,506,416 Q3L probably benign Het
Sult3a1 T A 10: 33,866,554 I59N probably damaging Het
Svs1 T C 6: 48,987,492 S145P probably damaging Het
Vmn1r208 T G 13: 22,772,788 I180L probably benign Het
Vmn2r51 A T 7: 10,098,320 N446K probably damaging Het
Vmn2r63 A T 7: 42,903,978 I618N probably damaging Het
Wrn T C 8: 33,322,343 N182S probably benign Het
Zfp296 G T 7: 19,579,712 C164F possibly damaging Het
Zmynd8 A G 2: 165,834,951 V249A possibly damaging Het
Zswim2 A G 2: 83,925,227 L110P probably damaging Het
Other mutations in Champ1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Champ1 APN 8 13879522 missense possibly damaging 0.68
IGL00775:Champ1 APN 8 13879509 missense probably damaging 1.00
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
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
R9328:Champ1 UTSW 8 13879392 missense probably damaging 1.00
R9464:Champ1 UTSW 8 13879114 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCATCCTGGAAGTCTTCAG -3'
(R):5'- AGTGTGCTTCCTCGTCTCAG -3'

Sequencing Primer
(F):5'- AGTCTCATCTGGTTCCTGGAAAACAC -3'
(R):5'- TCCTCGTCTCAGAGAAGACGTTAG -3'
Posted On 2016-04-15