Incidental Mutation 'IGL02505:Dkc1'
ID 296278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkc1
Ensembl Gene ENSMUSG00000031403
Gene Name dyskeratosis congenita 1, dyskerin
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # IGL02505
Quality Score
Status
Chromosome X
Chromosomal Location 74139460-74153382 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 74152339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033775] [ENSMUST00000033776] [ENSMUST00000114091] [ENSMUST00000114092] [ENSMUST00000132501] [ENSMUST00000153844]
AlphaFold Q9ESX5
Predicted Effect probably benign
Transcript: ENSMUST00000033775
SMART Domains Protein: ENSMUSP00000033775
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 80 152 1.32e-14 SMART
SH3 161 227 2.85e-12 SMART
low complexity region 247 258 N/A INTRINSIC
GuKc 281 454 1.55e-71 SMART
Predicted Effect unknown
Transcript: ENSMUST00000033776
AA Change: V501A
SMART Domains Protein: ENSMUSP00000033776
Gene: ENSMUSG00000031403
AA Change: V501A

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
DKCLD 48 106 1.85e-32 SMART
Pfam:TruB_N 110 226 2.4e-22 PFAM
low complexity region 233 241 N/A INTRINSIC
PUA 297 371 5.37e-20 SMART
low complexity region 465 476 N/A INTRINSIC
low complexity region 482 493 N/A INTRINSIC
low complexity region 494 504 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114091
SMART Domains Protein: ENSMUSP00000109725
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 80 152 1.32e-14 SMART
SH3 161 227 2.85e-12 SMART
low complexity region 247 258 N/A INTRINSIC
GuKc 281 450 2.06e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114092
SMART Domains Protein: ENSMUSP00000109726
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 80 152 1.32e-14 SMART
SH3 146 207 5.79e-4 SMART
low complexity region 227 238 N/A INTRINSIC
GuKc 261 434 1.55e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132501
SMART Domains Protein: ENSMUSP00000118693
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
SH3 35 101 2.85e-12 SMART
low complexity region 121 132 N/A INTRINSIC
Pfam:Guanylate_kin 155 205 3.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151327
Predicted Effect probably benign
Transcript: ENSMUST00000153844
SMART Domains Protein: ENSMUSP00000121253
Gene: ENSMUSG00000031403

DomainStartEndE-ValueType
PDB:3UAI|A 1 57 8e-21 PDB
SCOP:d1iq8a2 1 58 6e-9 SMART
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 functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Early generation male mice hemizygous for a hypomorphic allele exhibit bone marrow failure, dyskeratosis, extramedullary hematopoieis, splenomegaly, lung and kidney abnormalities, increased tumor incidence, and altered ribosome function; decreased telomere length is noted only in later generations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,524,096 (GRCm39) L68M probably damaging Het
Abca13 T G 11: 9,531,498 (GRCm39) L4575W probably damaging Het
Abcb11 A T 2: 69,076,105 (GRCm39) V1201D probably damaging Het
Aldoa G T 7: 126,395,166 (GRCm39) A252E probably damaging Het
Ap1b1 C T 11: 4,981,700 (GRCm39) A536V probably benign Het
Arhgef3 A G 14: 27,115,957 (GRCm39) H233R possibly damaging Het
Arhgef40 A T 14: 52,238,320 (GRCm39) E1266D probably damaging Het
Atp1a4 C T 1: 172,062,642 (GRCm39) V622M probably damaging Het
Aup1 A G 6: 83,032,258 (GRCm39) T142A probably benign Het
Bcl6 A T 16: 23,796,319 (GRCm39) I36N probably damaging Het
Best1 A G 19: 9,966,514 (GRCm39) S358P probably damaging Het
Cadps T G 14: 12,449,759 (GRCm38) Q1150P probably damaging Het
Capn5 T A 7: 97,780,403 (GRCm39) E322D possibly damaging Het
Cd300ld2 A T 11: 114,904,513 (GRCm39) M118K probably benign Het
Cdh9 T C 15: 16,856,075 (GRCm39) L705P probably damaging Het
Cep170b T G 12: 112,709,504 (GRCm39) N436K probably damaging Het
Chil6 T A 3: 106,313,278 (GRCm39) I24F probably benign Het
Chmp2a T A 7: 12,767,782 (GRCm39) K48* probably null Het
Col19a1 C T 1: 24,339,665 (GRCm39) probably benign Het
Cops7b C A 1: 86,520,043 (GRCm39) Q65K probably benign Het
Cyp2e1 T A 7: 140,349,069 (GRCm39) L133H probably damaging Het
Erlec1 A G 11: 30,900,767 (GRCm39) Y134H probably damaging Het
F8 C A X: 74,423,204 (GRCm39) probably benign Het
Fus G A 7: 127,580,679 (GRCm39) R252Q possibly damaging Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Gm15821 T C 17: 34,433,259 (GRCm39) probably benign Het
Gm5117 C A 8: 32,228,344 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,152 (GRCm39) I45V probably benign Het
Hectd1 A G 12: 51,847,496 (GRCm39) probably null Het
Ifi204 T C 1: 173,583,220 (GRCm39) K333E probably benign Het
Ildr1 G A 16: 36,536,526 (GRCm39) G185D probably damaging Het
Itgb2 G A 10: 77,383,052 (GRCm39) D141N probably damaging Het
Kdm1b G T 13: 47,214,331 (GRCm39) D226Y probably damaging Het
Krt77 A G 15: 101,769,381 (GRCm39) L460P probably damaging Het
Lamp3 A G 16: 19,474,207 (GRCm39) I389T possibly damaging Het
Macroh2a1 A G 13: 56,222,143 (GRCm39) V336A probably damaging Het
Mars1 C A 10: 127,140,113 (GRCm39) E414* probably null Het
Mpg T C 11: 32,180,042 (GRCm39) V190A probably damaging Het
Myh15 A G 16: 48,937,626 (GRCm39) I742M possibly damaging Het
Nell2 A T 15: 95,194,144 (GRCm39) probably benign Het
Nmur1 T C 1: 86,314,057 (GRCm39) D370G probably benign Het
Npsr1 A G 9: 24,009,578 (GRCm39) E28G probably benign Het
Or52r1 T C 7: 102,536,814 (GRCm39) E182G probably damaging Het
Or56a3 A T 7: 104,735,540 (GRCm39) I206L probably benign Het
Or7a42 G T 10: 78,791,767 (GRCm39) V243F probably benign Het
Or8b12c G A 9: 37,715,627 (GRCm39) C140Y probably benign Het
Pdzrn3 T C 6: 101,128,899 (GRCm39) N589S possibly damaging Het
Pkd1l3 T C 8: 110,359,848 (GRCm39) L901P probably damaging Het
Plekhg1 G T 10: 3,907,139 (GRCm39) K685N probably damaging Het
Prim1 T A 10: 127,865,652 (GRCm39) *419R probably null Het
Ptk2b G T 14: 66,391,692 (GRCm39) N905K probably damaging Het
Rbm34 T C 8: 127,676,071 (GRCm39) I395V probably benign Het
Rfx1 A G 8: 84,822,438 (GRCm39) E912G possibly damaging Het
Rngtt T C 4: 33,337,936 (GRCm39) V253A possibly damaging Het
Slc2a9 A G 5: 38,594,002 (GRCm39) Y169H possibly damaging Het
Slc49a4 G T 16: 35,555,928 (GRCm39) D177E probably benign Het
Susd4 C A 1: 182,719,645 (GRCm39) T420K probably benign Het
Tdrd3 G A 14: 87,749,118 (GRCm39) G676D probably damaging Het
Tec T C 5: 72,946,587 (GRCm39) K47E probably damaging Het
Tenm2 C A 11: 35,942,743 (GRCm39) G1308* probably null Het
Tmprss15 A T 16: 78,784,629 (GRCm39) D675E probably benign Het
Vmn1r84 A G 7: 12,096,346 (GRCm39) C104R probably damaging Het
Vmn2r49 T A 7: 9,710,378 (GRCm39) M785L probably benign Het
Vmn2r85 G T 10: 130,261,449 (GRCm39) T296K probably damaging Het
Wdr3 C T 3: 100,059,290 (GRCm39) S343N probably benign Het
Yju2 G T 17: 56,269,051 (GRCm39) G53V probably damaging Het
Zfp143 A T 7: 109,690,993 (GRCm39) M515L possibly damaging Het
Zfp735 A G 11: 73,580,626 (GRCm39) I42V probably benign Het
Zswim5 A T 4: 116,819,749 (GRCm39) M385L probably benign Het
Other mutations in Dkc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4678:Dkc1 UTSW X 74,144,598 (GRCm39) missense probably benign 0.00
R4679:Dkc1 UTSW X 74,144,598 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16