Incidental Mutation 'R4363:Dsn1'
ID |
324980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dsn1
|
Ensembl Gene |
ENSMUSG00000027635 |
Gene Name |
DSN1 homolog, MIS12 kinetochore complex component |
Synonyms |
1700022L09Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.942)
|
Stock # |
R4363 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156837185-156849074 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 156841062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 214
(I214K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103129]
[ENSMUST00000103130]
[ENSMUST00000124671]
[ENSMUST00000146413]
|
AlphaFold |
Q9CYC5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103129
AA Change: I214K
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099418 Gene: ENSMUSG00000027635 AA Change: I214K
Domain | Start | End | E-Value | Type |
Pfam:MIS13
|
72 |
348 |
4.5e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103130
AA Change: I214K
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099419 Gene: ENSMUSG00000027635 AA Change: I214K
Domain | Start | End | E-Value | Type |
Pfam:MIS13
|
72 |
348 |
4.5e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117941
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124671
|
SMART Domains |
Protein: ENSMUSP00000120354 Gene: ENSMUSG00000027635
Domain | Start | End | E-Value | Type |
Pfam:MIS13
|
72 |
124 |
2.7e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146413
|
SMART Domains |
Protein: ENSMUSP00000122524 Gene: ENSMUSG00000027635
Domain | Start | End | E-Value | Type |
Pfam:MIS13
|
72 |
199 |
1.7e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
T |
19: 43,787,575 (GRCm39) |
W207L |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
Adgrb3 |
A |
T |
1: 25,151,303 (GRCm39) |
V1081E |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,085,003 (GRCm39) |
I400N |
possibly damaging |
Het |
Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
T |
C |
17: 29,893,206 (GRCm39) |
L75P |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,582,722 (GRCm39) |
I72F |
probably damaging |
Het |
Ermp1 |
A |
T |
19: 29,590,276 (GRCm39) |
W809R |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
Fbxo33 |
T |
C |
12: 59,251,648 (GRCm39) |
H289R |
probably damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,331 (GRCm39) |
S1008P |
probably damaging |
Het |
Gli2 |
T |
C |
1: 118,781,100 (GRCm39) |
N189S |
probably benign |
Het |
Hus1 |
G |
T |
11: 8,948,676 (GRCm39) |
L242I |
probably damaging |
Het |
Hyou1 |
G |
A |
9: 44,291,912 (GRCm39) |
|
probably null |
Het |
Kirrel1 |
C |
A |
3: 86,997,792 (GRCm39) |
E244* |
probably null |
Het |
Mmrn2 |
C |
T |
14: 34,119,934 (GRCm39) |
A268V |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,485,893 (GRCm39) |
A1023E |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
Nmnat1 |
T |
C |
4: 149,557,902 (GRCm39) |
I47V |
probably benign |
Het |
Or1j11 |
A |
T |
2: 36,311,544 (GRCm39) |
I45F |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
Pak1 |
T |
C |
7: 97,532,793 (GRCm39) |
S198P |
possibly damaging |
Het |
Pank1 |
A |
C |
19: 34,804,532 (GRCm39) |
V208G |
probably damaging |
Het |
Pcdhga12 |
C |
G |
18: 37,899,214 (GRCm39) |
F15L |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,590,244 (GRCm39) |
D723G |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,104,020 (GRCm39) |
I147N |
probably damaging |
Het |
Selenbp1 |
A |
G |
3: 94,850,060 (GRCm39) |
|
probably null |
Het |
Sspo |
A |
G |
6: 48,475,665 (GRCm39) |
Y4927C |
probably damaging |
Het |
Syk |
A |
T |
13: 52,794,766 (GRCm39) |
H477L |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
Vmn2r-ps69 |
T |
C |
7: 84,959,700 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Dsn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- GATTAGAAAGCTCAACTGATTCAGAGG -3'
(R):5'- TCTCCATGATTTGAATGGGAATTGG -3'
Sequencing Primer
(F):5'- GGTGATAAGCCTTGTCAC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
Posted On |
2015-07-06 |