Incidental Mutation 'R4363:Dsn1'
ID 324980
Institutional Source Beutler Lab
Gene Symbol Dsn1
Ensembl Gene ENSMUSG00000027635
Gene Name DSN1 homolog, MIS12 kinetochore complex component
Synonyms 1700022L09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R4363 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156837185-156849074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156841062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 214 (I214K)
Ref Sequence ENSEMBL: ENSMUSP00000099419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103129] [ENSMUST00000103130] [ENSMUST00000124671] [ENSMUST00000146413]
AlphaFold Q9CYC5
Predicted Effect probably benign
Transcript: ENSMUST00000103129
AA Change: I214K

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635
AA Change: I214K

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103130
AA Change: I214K

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635
AA Change: I214K

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117941
Predicted Effect probably benign
Transcript: ENSMUST00000124671
SMART Domains Protein: ENSMUSP00000120354
Gene: ENSMUSG00000027635

DomainStartEndE-ValueType
Pfam:MIS13 72 124 2.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141388
Predicted Effect probably benign
Transcript: ENSMUST00000146413
SMART Domains Protein: ENSMUSP00000122524
Gene: ENSMUSG00000027635

DomainStartEndE-ValueType
Pfam:MIS13 72 199 1.7e-32 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G T 19: 43,787,575 (GRCm39) W207L possibly damaging Het
Adamts13 G A 2: 26,894,794 (GRCm39) C1034Y probably damaging Het
Adgrb3 A T 1: 25,151,303 (GRCm39) V1081E probably damaging Het
Apcdd1 T A 18: 63,085,003 (GRCm39) I400N possibly damaging Het
Bcan G T 3: 87,904,405 (GRCm39) T117K probably damaging Het
Bicc1 ATGTG ATG 10: 70,779,204 (GRCm39) probably null Het
Cmtr1 T C 17: 29,893,206 (GRCm39) L75P probably damaging Het
Cplane1 T A 15: 8,300,229 (GRCm39) S3179T unknown Het
Cplx2 A T 13: 54,526,630 (GRCm39) T13S probably benign Het
Drd3 A T 16: 43,582,722 (GRCm39) I72F probably damaging Het
Ermp1 A T 19: 29,590,276 (GRCm39) W809R probably damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Fbxo33 T C 12: 59,251,648 (GRCm39) H289R probably damaging Het
Fcgbpl1 T C 7: 27,846,331 (GRCm39) S1008P probably damaging Het
Gli2 T C 1: 118,781,100 (GRCm39) N189S probably benign Het
Hus1 G T 11: 8,948,676 (GRCm39) L242I probably damaging Het
Hyou1 G A 9: 44,291,912 (GRCm39) probably null Het
Kirrel1 C A 3: 86,997,792 (GRCm39) E244* probably null Het
Mmrn2 C T 14: 34,119,934 (GRCm39) A268V probably damaging Het
Mycbp2 G T 14: 103,485,893 (GRCm39) A1023E probably damaging Het
Nedd9 A T 13: 41,471,429 (GRCm39) I184N probably damaging Het
Nmnat1 T C 4: 149,557,902 (GRCm39) I47V probably benign Het
Or1j11 A T 2: 36,311,544 (GRCm39) I45F probably damaging Het
Or51f5 T C 7: 102,424,463 (GRCm39) V244A probably benign Het
Otulinl C T 15: 27,664,429 (GRCm39) probably null Het
Pak1 T C 7: 97,532,793 (GRCm39) S198P possibly damaging Het
Pank1 A C 19: 34,804,532 (GRCm39) V208G probably damaging Het
Pcdhga12 C G 18: 37,899,214 (GRCm39) F15L probably benign Het
Recql4 T C 15: 76,590,244 (GRCm39) D723G probably benign Het
Rgs22 A T 15: 36,104,020 (GRCm39) I147N probably damaging Het
Selenbp1 A G 3: 94,850,060 (GRCm39) probably null Het
Sspo A G 6: 48,475,665 (GRCm39) Y4927C probably damaging Het
Syk A T 13: 52,794,766 (GRCm39) H477L probably damaging Het
Tnfrsf11b T A 15: 54,119,555 (GRCm39) T140S possibly damaging Het
Vmn2r-ps69 T C 7: 84,959,700 (GRCm39) noncoding transcript Het
Other mutations in Dsn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01572:Dsn1 APN 2 156,841,054 (GRCm39) critical splice donor site probably null
IGL02425:Dsn1 APN 2 156,838,667 (GRCm39) missense probably damaging 0.99
BB005:Dsn1 UTSW 2 156,847,932 (GRCm39) start gained probably benign
BB015:Dsn1 UTSW 2 156,847,932 (GRCm39) start gained probably benign
IGL03014:Dsn1 UTSW 2 156,838,739 (GRCm39) missense possibly damaging 0.94
R0421:Dsn1 UTSW 2 156,847,789 (GRCm39) missense possibly damaging 0.95
R0519:Dsn1 UTSW 2 156,840,633 (GRCm39) splice site probably benign
R0694:Dsn1 UTSW 2 156,847,789 (GRCm39) missense possibly damaging 0.95
R1906:Dsn1 UTSW 2 156,838,163 (GRCm39) missense probably damaging 1.00
R2043:Dsn1 UTSW 2 156,847,273 (GRCm39) missense possibly damaging 0.47
R2930:Dsn1 UTSW 2 156,847,381 (GRCm39) missense probably damaging 0.99
R4749:Dsn1 UTSW 2 156,843,660 (GRCm39) missense probably damaging 1.00
R6017:Dsn1 UTSW 2 156,838,162 (GRCm39) missense probably damaging 1.00
R6496:Dsn1 UTSW 2 156,847,187 (GRCm39) missense probably damaging 0.97
R7562:Dsn1 UTSW 2 156,842,792 (GRCm39) missense probably damaging 0.99
R7740:Dsn1 UTSW 2 156,839,636 (GRCm39) missense possibly damaging 0.88
R7928:Dsn1 UTSW 2 156,847,932 (GRCm39) start gained probably benign
R8496:Dsn1 UTSW 2 156,839,640 (GRCm39) missense probably benign 0.41
R9322:Dsn1 UTSW 2 156,843,669 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- GATTAGAAAGCTCAACTGATTCAGAGG -3'
(R):5'- TCTCCATGATTTGAATGGGAATTGG -3'

Sequencing Primer
(F):5'- GGTGATAAGCCTTGTCAC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2015-07-06