Incidental Mutation 'R2930:Dsn1'
ID 264507
Institutional Source Beutler Lab
Gene Symbol Dsn1
Ensembl Gene ENSMUSG00000027635
Gene Name DSN1 homolog, MIS12 kinetochore complex component
Synonyms 1700022L09Rik
MMRRC Submission 040512-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R2930 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156837185-156849074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156847381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 19 (D19G)
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: D19G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635
AA Change: D19G

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103130
AA Change: D19G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635
AA Change: D19G

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124671
AA Change: D19G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120354
Gene: ENSMUSG00000027635
AA Change: D19G

DomainStartEndE-ValueType
Pfam:MIS13 72 124 2.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141388
Predicted Effect probably benign
Transcript: ENSMUST00000146413
AA Change: D19G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122524
Gene: ENSMUSG00000027635
AA Change: D19G

DomainStartEndE-ValueType
Pfam:MIS13 72 199 1.7e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154213
AA Change: D19G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,087,702 (GRCm39) V1021D probably damaging Het
Abcc3 T C 11: 94,252,636 (GRCm39) N749S probably damaging Het
Adap1 T C 5: 139,293,621 (GRCm39) D30G probably benign Het
Camk2d C A 3: 126,601,880 (GRCm39) H356Q possibly damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Cfap74 G A 4: 155,522,627 (GRCm39) S671N probably damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Fndc3b T C 3: 27,524,435 (GRCm39) T442A probably benign Het
Hsd3b5 C T 3: 98,526,528 (GRCm39) R306H probably benign Het
Ilf3 A G 9: 21,310,886 (GRCm39) K617E possibly damaging Het
Krt75 C T 15: 101,476,466 (GRCm39) R433Q probably benign Het
Myrfl C T 10: 116,653,652 (GRCm39) V472I probably damaging Het
Plxna4 A G 6: 32,142,715 (GRCm39) L1580P probably damaging Het
Thop1 T C 10: 80,909,148 (GRCm39) S60P probably damaging Het
Tshz3 G A 7: 36,471,017 (GRCm39) R1002Q possibly damaging Het
Zbtb4 G T 11: 69,667,342 (GRCm39) G216* probably null Het
Zfp729b A G 13: 67,739,973 (GRCm39) L764S probably benign Het
Zmym4 T C 4: 126,819,316 (GRCm39) S196G probably benign 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
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'- GACGGATAGACTGTTCTTGAGG -3'
(R):5'- TCCTAGGAAGCTGGTCCTTC -3'

Sequencing Primer
(F):5'- ACTGTTCTTGAGGGGACAAATG -3'
(R):5'- GGAAGCTGGTCCTTCAACTGTATAC -3'
Posted On 2015-02-05