Incidental Mutation 'IGL02505:Dkc1'
ID296278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkc1
Ensembl Gene ENSMUSG00000031403
Gene Namedyskeratosis congenita 1, dyskerin
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.864) question?
Stock #IGL02505
Quality Score
Status
ChromosomeX
Chromosomal Location75095854-75109777 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 75108733 bp
ZygosityHeterozygous
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

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: 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
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