Incidental Mutation 'IGL02505:Dkc1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkc1
Ensembl Gene ENSMUSG00000031403
Gene Namedyskeratosis congenita 1, dyskerin
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.864) question?
Stock #IGL02505
Quality Score
Chromosomal Location75095854-75109777 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 75108733 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033775] [ENSMUST00000033776] [ENSMUST00000114091] [ENSMUST00000114092] [ENSMUST00000132501] [ENSMUST00000153844]
Predicted Effect probably benign
Transcript: ENSMUST00000033775
SMART Domains Protein: ENSMUSP00000033775
Gene: ENSMUSG00000031402

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

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

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

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

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: ENSMUST00000151327
Predicted Effect probably benign
Transcript: ENSMUST00000153844
SMART Domains Protein: ENSMUSP00000121253
Gene: ENSMUSG00000031403

PDB:3UAI|A 1 57 8e-21 PDB
SCOP:d1iq8a2 1 58 6e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154936
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: 63,616,814 L68M probably damaging Het
Abca13 T G 11: 9,581,498 L4575W probably damaging Het
Abcb11 A T 2: 69,245,761 V1201D probably damaging Het
Aldoa G T 7: 126,795,994 A252E probably damaging Het
Ap1b1 C T 11: 5,031,700 A536V probably benign Het
Arhgef3 A G 14: 27,394,000 H233R possibly damaging Het
Arhgef40 A T 14: 52,000,863 E1266D probably damaging Het
Atp1a4 C T 1: 172,235,075 V622M probably damaging Het
Aup1 A G 6: 83,055,277 T142A probably benign Het
Bcl6 A T 16: 23,977,569 I36N probably damaging Het
Best1 A G 19: 9,989,150 S358P probably damaging Het
Cadps T G 14: 12,449,759 Q1150P probably damaging Het
Capn5 T A 7: 98,131,196 E322D possibly damaging Het
Ccdc94 G T 17: 55,962,051 G53V probably damaging Het
Cd300ld2 A T 11: 115,013,687 M118K probably benign Het
Cdh9 T C 15: 16,855,989 L705P probably damaging Het
Cep170b T G 12: 112,743,070 N436K probably damaging Het
Chil6 T A 3: 106,405,962 I24F probably benign Het
Chmp2a T A 7: 13,033,855 K48* probably null Het
Col19a1 C T 1: 24,300,584 probably benign Het
Cops7b C A 1: 86,592,321 Q65K probably benign Het
Cyp2e1 T A 7: 140,769,156 L133H probably damaging Het
Dirc2 G T 16: 35,735,558 D177E probably benign Het
Erlec1 A G 11: 30,950,767 Y134H probably damaging Het
F8 C A X: 75,379,598 probably benign Het
Fus G A 7: 127,981,507 R252Q possibly damaging Het
Fzd3 A T 14: 65,253,106 D9E probably benign Het
Gm15821 T C 17: 34,214,285 probably benign Het
Gm5117 C A 8: 31,738,316 noncoding transcript Het
H2afy A G 13: 56,074,330 V336A probably damaging Het
H2-Q6 A G 17: 35,425,176 I45V probably benign Het
Hectd1 A G 12: 51,800,713 probably null Het
Ifi204 T C 1: 173,755,654 K333E probably benign Het
Ildr1 G A 16: 36,716,164 G185D probably damaging Het
Itgb2 G A 10: 77,547,218 D141N probably damaging Het
Kdm1b G T 13: 47,060,855 D226Y probably damaging Het
Krt77 A G 15: 101,860,946 L460P probably damaging Het
Lamp3 A G 16: 19,655,457 I389T possibly damaging Het
Mars C A 10: 127,304,244 E414* probably null Het
Mpg T C 11: 32,230,042 V190A probably damaging Het
Myh15 A G 16: 49,117,263 I742M possibly damaging Het
Nell2 A T 15: 95,296,263 probably benign Het
Nmur1 T C 1: 86,386,335 D370G probably benign Het
Npsr1 A G 9: 24,098,282 E28G probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr679 A T 7: 105,086,333 I206L probably benign Het
Olfr8 G T 10: 78,955,933 V243F probably benign Het
Olfr876 G A 9: 37,804,331 C140Y probably benign Het
Pdzrn3 T C 6: 101,151,938 N589S possibly damaging Het
Pkd1l3 T C 8: 109,633,216 L901P probably damaging Het
Plekhg1 G T 10: 3,957,139 K685N probably damaging Het
Prim1 T A 10: 128,029,783 *419R probably null Het
Ptk2b G T 14: 66,154,243 N905K probably damaging Het
Rbm34 T C 8: 126,949,321 I395V probably benign Het
Rfx1 A G 8: 84,095,809 E912G possibly damaging Het
Rngtt T C 4: 33,337,936 V253A possibly damaging Het
Slc2a9 A G 5: 38,436,659 Y169H possibly damaging Het
Susd4 C A 1: 182,892,080 T420K probably benign Het
Tdrd3 G A 14: 87,511,682 G676D probably damaging Het
Tec T C 5: 72,789,244 K47E probably damaging Het
Tenm2 C A 11: 36,051,916 G1308* probably null Het
Tmprss15 A T 16: 78,987,741 D675E probably benign Het
Vmn1r84 A G 7: 12,362,419 C104R probably damaging Het
Vmn2r49 T A 7: 9,976,451 M785L probably benign Het
Vmn2r85 G T 10: 130,425,580 T296K probably damaging Het
Wdr3 C T 3: 100,151,974 S343N probably benign Het
Zfp143 A T 7: 110,091,786 M515L possibly damaging Het
Zfp735 A G 11: 73,689,800 I42V probably benign Het
Zswim5 A T 4: 116,962,552 M385L probably benign Het
Other mutations in Dkc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4678:Dkc1 UTSW X 75100992 missense probably benign 0.00
R4679:Dkc1 UTSW X 75100992 missense probably benign 0.00
Posted On2015-04-16