Incidental Mutation 'R2043:Dsn1'
ID 225167
Institutional Source Beutler Lab
Gene Symbol Dsn1
Ensembl Gene ENSMUSG00000027635
Gene Name DSN1 homolog, MIS12 kinetochore complex component
Synonyms 1700022L09Rik
MMRRC Submission 040050-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R2043 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156837185-156849074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 156847273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 55 (S55L)
Ref Sequence ENSEMBL: ENSMUSP00000122593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103129] [ENSMUST00000103130] [ENSMUST00000124671] [ENSMUST00000146413] [ENSMUST00000154213]
AlphaFold Q9CYC5
Predicted Effect probably benign
Transcript: ENSMUST00000103129
AA Change: S55L

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635
AA Change: S55L

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103130
AA Change: S55L

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635
AA Change: S55L

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124671
AA Change: S55L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000120354
Gene: ENSMUSG00000027635
AA Change: S55L

DomainStartEndE-ValueType
Pfam:MIS13 72 124 2.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141388
Predicted Effect probably benign
Transcript: ENSMUST00000146413
AA Change: S55L

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122524
Gene: ENSMUSG00000027635
AA Change: S55L

DomainStartEndE-ValueType
Pfam:MIS13 72 199 1.7e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000154213
AA Change: S55L

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A G 8: 25,486,669 (GRCm39) probably null Het
Adnp2 A C 18: 80,171,541 (GRCm39) M956R probably damaging Het
Aldh1l1 T A 6: 90,534,314 (GRCm39) D36E probably benign Het
Ankmy1 T C 1: 92,804,249 (GRCm39) probably benign Het
Apaf1 T C 10: 90,872,890 (GRCm39) D718G probably damaging Het
Ascc3 C T 10: 50,576,616 (GRCm39) P857L probably damaging Het
Atp8b1 T C 18: 64,738,271 (GRCm39) K60R possibly damaging Het
Bub1 A T 2: 127,646,140 (GRCm39) C947S probably damaging Het
Cacna1c C T 6: 118,573,049 (GRCm39) G2017D probably benign Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc110 T C 8: 46,395,864 (GRCm39) M585T probably benign Het
Cep85l A T 10: 53,234,224 (GRCm39) N51K possibly damaging Het
Cftr T C 6: 18,320,934 (GRCm39) F1415L probably benign Het
Cln5 T C 14: 103,313,380 (GRCm39) S211P probably damaging Het
Dcaf5 A T 12: 80,386,991 (GRCm39) D378E probably benign Het
Dhx57 A G 17: 80,560,509 (GRCm39) probably benign Het
Eif5b T C 1: 38,080,900 (GRCm39) F747S probably damaging Het
Entrep3 A G 3: 89,092,874 (GRCm39) Y251C probably damaging Het
Fbxo25 A G 8: 13,971,905 (GRCm39) I86V probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Glcci1 T A 6: 8,582,590 (GRCm39) I130K probably damaging Het
Gm5424 A G 10: 61,906,990 (GRCm39) noncoding transcript Het
Gsdma G A 11: 98,557,046 (GRCm39) V54M possibly damaging Het
H3c3 A G 13: 23,929,278 (GRCm39) F68S probably damaging Het
Heatr3 T A 8: 88,874,322 (GRCm39) probably benign Het
Hspa13 A G 16: 75,555,156 (GRCm39) L310S probably benign Het
Il6st A C 13: 112,616,753 (GRCm39) Q100P probably benign Het
Ly6g6e G A 17: 35,296,840 (GRCm39) R27Q possibly damaging Het
Mis18bp1 A T 12: 65,196,192 (GRCm39) I524K probably damaging Het
Myo18a T C 11: 77,714,189 (GRCm39) I761T probably damaging Het
Mypop T C 7: 18,734,944 (GRCm39) probably benign Het
Or51ag1 A G 7: 103,156,150 (GRCm39) M1T probably null Het
Pcdh20 G A 14: 88,704,591 (GRCm39) T903I probably benign Het
Pdk4 A T 6: 5,485,502 (GRCm39) C396S probably benign Het
Piwil2 A G 14: 70,628,919 (GRCm39) V699A probably benign Het
Plekha5 T C 6: 140,498,530 (GRCm39) probably benign Het
Ralgapa1 T A 12: 55,723,811 (GRCm39) I1572L probably damaging Het
Rasgrf2 T A 13: 92,167,351 (GRCm39) M241L possibly damaging Het
Ryr1 C T 7: 28,759,056 (GRCm39) R3374H probably damaging Het
Slc24a2 A T 4: 86,914,882 (GRCm39) M519K probably damaging Het
Smg9 T A 7: 24,105,001 (GRCm39) I67N possibly damaging Het
Spart G A 3: 55,034,969 (GRCm39) A452T probably damaging Het
Ush2a T A 1: 188,648,453 (GRCm39) F4686Y probably benign Het
Zfp146 T C 7: 29,861,664 (GRCm39) K126R possibly damaging Het
Zfp386 T A 12: 116,022,781 (GRCm39) D131E probably benign Het
Zfp423 T C 8: 88,509,246 (GRCm39) D366G probably damaging Het
Zfp729a T C 13: 67,769,291 (GRCm39) K313E probably damaging Het
Zfp955a G A 17: 33,461,527 (GRCm39) H202Y possibly 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
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
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'- TTTATGAACGCAGCATCCCAC -3'
(R):5'- CCCTTGGCTTGGATACTTACTG -3'

Sequencing Primer
(F):5'- AGCATCCCACCTGTGATGC -3'
(R):5'- ATACTTACTGAGGTTTGTATCTGAGG -3'
Posted On 2014-08-25