Incidental Mutation 'R7928:Dsn1'
ID 643413
Institutional Source Beutler Lab
Gene Symbol Dsn1
Ensembl Gene ENSMUSG00000027635
Gene Name DSN1 homolog, MIS12 kinetochore complex component
Synonyms 1700022L09Rik
MMRRC Submission 045975-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R7928 (G1)
Quality Score 999
Status Validated
Chromosome 2
Chromosomal Location 156837185-156849074 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 156847932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103130
SMART Domains Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635

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

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

DomainStartEndE-ValueType
Pfam:MIS13 72 199 1.7e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154213
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 97% (30/31)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T A 15: 74,410,170 (GRCm39) W270R probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
App A T 16: 84,775,134 (GRCm39) V501D probably benign Het
Cnot6l A G 5: 96,278,927 (GRCm39) V97A possibly damaging Het
Cntrob A G 11: 69,191,121 (GRCm39) L831P probably damaging Het
Dmbt1 T C 7: 130,639,620 (GRCm39) S53P probably benign Het
Dnah2 T C 11: 69,321,661 (GRCm39) D3833G probably damaging Het
Dock4 T C 12: 40,838,302 (GRCm39) L1081P probably damaging Het
Dock7 T C 4: 98,889,335 (GRCm39) N185D Het
Evpl T C 11: 116,113,359 (GRCm39) T1444A possibly damaging Het
Fanci T C 7: 79,094,459 (GRCm39) L1130P probably benign Het
Fancm A G 12: 65,152,898 (GRCm39) D1118G unknown Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gm11596 A G 11: 99,683,622 (GRCm39) V166A unknown Het
Gm2696 A T 10: 77,650,723 (GRCm39) T70S unknown Het
Gm5773 A G 3: 93,680,997 (GRCm39) E223G probably damaging Het
Madd T A 2: 91,007,233 (GRCm39) D293V probably damaging Het
Odam A G 5: 88,035,269 (GRCm39) T78A possibly damaging Het
Or52ae9 T A 7: 103,390,397 (GRCm39) I17F probably damaging Het
Rassf3 A G 10: 121,252,984 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rhbdf1 T C 11: 32,159,898 (GRCm39) Y826C possibly damaging Het
Rnf13 C A 3: 57,671,729 (GRCm39) Q14K probably benign Het
Sec13 A G 6: 113,706,601 (GRCm39) S271P probably damaging Het
Sema6c T C 3: 95,079,620 (GRCm39) L638P probably damaging Het
Sgsh T G 11: 119,238,561 (GRCm39) H301P probably benign Het
Shh T C 5: 28,666,404 (GRCm39) M161V possibly damaging Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Stil C T 4: 114,887,198 (GRCm39) H764Y probably damaging Het
Vmn1r203 C T 13: 22,708,705 (GRCm39) T162I probably benign Het
Zfp950 G T 19: 61,107,938 (GRCm39) P382T probably damaging Het
Zzef1 T C 11: 72,712,722 (GRCm39) M214T 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
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'- TCTGGGATAGTTCAGGAGCCTG -3'
(R):5'- AGCCATGGCAAAATCTGGAG -3'

Sequencing Primer
(F):5'- GCAAGAGGCATTGAATTTCACTG -3'
(R):5'- CCATGGCAAAATCTGGAGAGAGTAAG -3'
Posted On 2020-08-07