Incidental Mutation 'R8496:Dsn1'
ID 658260
Institutional Source Beutler Lab
Gene Symbol Dsn1
Ensembl Gene ENSMUSG00000027635
Gene Name DSN1 homolog, MIS12 kinetochore complex component
Synonyms 1700022L09Rik
MMRRC Submission 067938-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R8496 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 156837185-156849074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156839640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 254 (V254M)
Ref Sequence ENSEMBL: ENSMUSP00000099419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103129] [ENSMUST00000103130] [ENSMUST00000146413]
AlphaFold Q9CYC5
Predicted Effect probably benign
Transcript: ENSMUST00000103129
AA Change: V254M

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635
AA Change: V254M

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103130
AA Change: V254M

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635
AA Change: V254M

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,120 (GRCm39) E335G probably benign Het
Afp C T 5: 90,639,572 (GRCm39) S34F probably damaging Het
Ano6 T A 15: 95,847,807 (GRCm39) I639N probably damaging Het
Atp13a1 T G 8: 70,250,618 (GRCm39) V411G probably damaging Het
Cadm2 A T 16: 66,461,309 (GRCm39) C383S probably damaging Het
Capn2 T C 1: 182,304,840 (GRCm39) I556V probably benign Het
Cd34 A G 1: 194,642,089 (GRCm39) E322G probably benign Het
Cel T C 2: 28,446,200 (GRCm39) D557G probably benign Het
Cemip T C 7: 83,600,634 (GRCm39) I996V probably benign Het
Clca3a1 A T 3: 144,453,182 (GRCm39) *514R probably null Het
Cry2 C G 2: 92,257,284 (GRCm39) R95P probably damaging Het
Ctse T A 1: 131,592,118 (GRCm39) I148N probably damaging Het
Cyp4f13 G C 17: 33,143,833 (GRCm39) P497R probably damaging Het
Fcgbpl1 A G 7: 27,843,377 (GRCm39) D755G possibly damaging Het
Gm4847 T A 1: 166,469,761 (GRCm39) H104L possibly damaging Het
Gpr88 T C 3: 116,046,117 (GRCm39) T65A possibly damaging Het
Gtse1 A G 15: 85,746,283 (GRCm39) D33G probably damaging Het
Ints6 A G 14: 62,943,325 (GRCm39) Y455H probably benign Het
Kctd1 A T 18: 15,107,228 (GRCm39) C150S probably damaging Het
Kctd11 T G 11: 69,770,877 (GRCm39) T54P probably damaging Het
Kif1b C A 4: 149,277,068 (GRCm39) G56* probably null Het
Kifap3 T A 1: 163,656,866 (GRCm39) probably null Het
Naip5 G T 13: 100,349,247 (GRCm39) H1360Q probably benign Het
Ncapd2 T C 6: 125,147,127 (GRCm39) E1198G probably damaging Het
Nova1 T A 12: 46,760,325 (GRCm39) K90* probably null Het
Odc1 T A 12: 17,598,396 (GRCm39) L179H probably damaging Het
Or10w1 T A 19: 13,632,388 (GRCm39) H193Q probably damaging Het
Or1ad8 T C 11: 50,897,877 (GRCm39) V26A probably benign Het
Or1s2 A G 19: 13,758,384 (GRCm39) N136S probably benign Het
Palm C T 10: 79,642,485 (GRCm39) T6I probably benign Het
Parp10 T A 15: 76,117,749 (GRCm39) D879V probably damaging Het
Phf2 A G 13: 48,971,181 (GRCm39) V497A unknown Het
Pparg A G 6: 115,440,112 (GRCm39) I199V probably benign Het
Ppm1b T A 17: 85,301,660 (GRCm39) I180N probably damaging Het
Prdx5 A T 19: 6,885,542 (GRCm39) C37* probably null Het
Ptprz1 A T 6: 22,972,797 (GRCm39) T236S probably damaging Het
Rab5b G A 10: 128,518,776 (GRCm39) Q119* probably null Het
Rdh19 T A 10: 127,695,469 (GRCm39) W228R probably damaging Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Secisbp2 T C 13: 51,819,383 (GRCm39) V321A probably damaging Het
Slc6a5 T A 7: 49,585,960 (GRCm39) V426D probably damaging Het
Syne1 T A 10: 5,178,896 (GRCm39) E4526V probably damaging Het
Syne1 T C 10: 5,268,441 (GRCm39) K2083E probably damaging Het
Tecta T A 9: 42,241,547 (GRCm39) I2143F probably benign Het
Tfap4 T C 16: 4,369,170 (GRCm39) D90G probably damaging Het
Ttll12 T C 15: 83,462,010 (GRCm39) Y569C probably damaging Het
Zfp326 T G 5: 106,036,451 (GRCm39) S121A probably damaging 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
R4363:Dsn1 UTSW 2 156,841,062 (GRCm39) missense probably benign 0.41
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
R9322:Dsn1 UTSW 2 156,843,669 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- AGGATCTGTGGAGTCTGACC -3'
(R):5'- GGTGAGCTCCTAATTACAGATGTG -3'

Sequencing Primer
(F):5'- GGTCTTGTCACAATGTCACAAGGC -3'
(R):5'- TACAGATGTGATGTAAAGAGGCTATG -3'
Posted On 2021-01-18