Incidental Mutation 'IGL02425:Dsn1'
ID292868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsn1
Ensembl Gene ENSMUSG00000027635
Gene NameDSN1 homolog, MIS12 kinetochore complex component
Synonyms1700022L09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #IGL02425
Quality Score
Status
Chromosome2
Chromosomal Location156995265-157007154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 156996747 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 316 (V316A)
Ref Sequence ENSEMBL: ENSMUSP00000099419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069600] [ENSMUST00000072298] [ENSMUST00000103129] [ENSMUST00000103130] [ENSMUST00000109558] [ENSMUST00000146413]
Predicted Effect probably benign
Transcript: ENSMUST00000069600
SMART Domains Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634

DomainStartEndE-ValueType
Pfam:Ndr 32 317 1.1e-129 PFAM
low complexity region 335 359 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072298
SMART Domains Protein: ENSMUSP00000072144
Gene: ENSMUSG00000027634

DomainStartEndE-ValueType
Pfam:Ndr 32 317 1.9e-129 PFAM
Pfam:Abhydrolase_6 58 305 1.6e-13 PFAM
low complexity region 322 346 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103129
AA Change: V316A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635
AA Change: V316A

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103130
AA Change: V316A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635
AA Change: V316A

DomainStartEndE-ValueType
Pfam:MIS13 72 348 4.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109558
SMART Domains Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634

DomainStartEndE-ValueType
Pfam:Ndr 32 252 1.8e-99 PFAM
Pfam:Abhydrolase_6 55 237 6.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132748
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156651
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,950,662 probably benign Het
Adam4 C T 12: 81,421,328 R173H probably benign Het
Akap12 A G 10: 4,356,034 E948G possibly damaging Het
Akr1c12 T C 13: 4,273,750 Y184C probably damaging Het
Avil T C 10: 127,018,447 V761A probably benign Het
Bahd1 T A 2: 118,919,164 F480L probably benign Het
Bicral T C 17: 46,808,454 T714A probably benign Het
Col4a3bp T C 13: 96,609,882 I263T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2d34 C T 15: 82,618,279 V219I probably benign Het
Errfi1 T A 4: 150,866,356 F80L probably benign Het
Fam221b A G 4: 43,660,642 probably null Het
Fgd6 G A 10: 94,074,202 G790R probably benign Het
Fn1 T C 1: 71,641,143 probably benign Het
Gldn T A 9: 54,338,721 Y519N probably damaging Het
Il18r1 T C 1: 40,491,221 probably benign Het
Itpr2 A G 6: 146,391,321 V380A probably damaging Het
Kcnab1 T C 3: 65,302,179 Y154H possibly damaging Het
Lama1 T C 17: 67,811,485 V2564A probably benign Het
Lca5 T C 9: 83,399,721 T337A probably damaging Het
Lrp1 A G 10: 127,571,887 probably null Het
Moxd1 A G 10: 24,279,436 N245S probably benign Het
Napepld T C 5: 21,683,442 E3G probably benign Het
Nr1d2 T C 14: 18,222,011 T87A probably benign Het
Nudt4 T A 10: 95,549,383 T149S probably benign Het
Rad18 A T 6: 112,620,898 D219E probably damaging Het
Ryr2 T C 13: 11,745,674 I1508V probably damaging Het
Setx G A 2: 29,148,408 S1635N probably benign Het
Slc6a19 A G 13: 73,691,800 V121A probably benign Het
Snapc4 T C 2: 26,368,200 D736G probably damaging Het
Spink5 T C 18: 43,990,744 probably null Het
Strip1 T C 3: 107,614,646 I739V probably benign Het
Tmem161a T C 8: 70,176,927 probably null Het
Top1mt T C 15: 75,676,121 T39A probably benign Het
Trpm1 T C 7: 64,240,427 M926T probably damaging Het
Ttn T A 2: 76,757,280 K19744* probably null Het
Vmn2r26 A G 6: 124,061,818 E784G probably damaging Het
Wnk1 A G 6: 119,963,454 F774S probably damaging Het
Zfp317 T A 9: 19,643,613 Y101* probably null Het
Other mutations in Dsn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01572:Dsn1 APN 2 156999134 critical splice donor site probably null
BB005:Dsn1 UTSW 2 157006012 start gained probably benign
BB015:Dsn1 UTSW 2 157006012 start gained probably benign
IGL03014:Dsn1 UTSW 2 156996819 missense possibly damaging 0.94
R0421:Dsn1 UTSW 2 157005869 missense possibly damaging 0.95
R0519:Dsn1 UTSW 2 156998713 splice site probably benign
R0694:Dsn1 UTSW 2 157005869 missense possibly damaging 0.95
R1906:Dsn1 UTSW 2 156996243 missense probably damaging 1.00
R2043:Dsn1 UTSW 2 157005353 missense possibly damaging 0.47
R2930:Dsn1 UTSW 2 157005461 missense probably damaging 0.99
R4363:Dsn1 UTSW 2 156999142 missense probably benign 0.41
R4749:Dsn1 UTSW 2 157001740 missense probably damaging 1.00
R6017:Dsn1 UTSW 2 156996242 missense probably damaging 1.00
R6496:Dsn1 UTSW 2 157005267 missense probably damaging 0.97
R7562:Dsn1 UTSW 2 157000872 missense probably damaging 0.99
R7740:Dsn1 UTSW 2 156997716 missense possibly damaging 0.88
R7928:Dsn1 UTSW 2 157006012 start gained probably benign
Posted On2015-04-16