Incidental Mutation 'IGL02425:Dsn1'
| ID |
292868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dsn1
|
| Ensembl Gene |
ENSMUSG00000027635 |
| Gene Name |
DSN1 homolog, MIS12 kinetochore complex component |
| Synonyms |
1700022L09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
IGL02425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156837185-156849074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156838667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q9CYC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069600
|
| SMART Domains |
Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIS13
|
72 |
348 |
4.5e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109558
|
| SMART Domains |
Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000156651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132748
|
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8430423G03Rik |
A |
G |
5: 148,887,472 (GRCm39) |
|
probably benign |
Het |
| Adam4 |
C |
T |
12: 81,468,102 (GRCm39) |
R173H |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,306,034 (GRCm39) |
E948G |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,323,749 (GRCm39) |
Y184C |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,854,316 (GRCm39) |
V761A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,749,645 (GRCm39) |
F480L |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,119,380 (GRCm39) |
T714A |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,746,390 (GRCm39) |
I263T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,480 (GRCm39) |
V219I |
probably benign |
Het |
| Errfi1 |
T |
A |
4: 150,950,813 (GRCm39) |
F80L |
probably benign |
Het |
| Fam221b |
A |
G |
4: 43,660,642 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
G |
A |
10: 93,910,064 (GRCm39) |
G790R |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,680,302 (GRCm39) |
|
probably benign |
Het |
| Gldn |
T |
A |
9: 54,246,005 (GRCm39) |
Y519N |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,530,381 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,819 (GRCm39) |
V380A |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,600 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,480 (GRCm39) |
V2564A |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,281,774 (GRCm39) |
T337A |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,756 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
A |
G |
10: 24,155,334 (GRCm39) |
N245S |
probably benign |
Het |
| Napepld |
T |
C |
5: 21,888,440 (GRCm39) |
E3G |
probably benign |
Het |
| Nr1d2 |
T |
C |
14: 18,222,011 (GRCm38) |
T87A |
probably benign |
Het |
| Nudt4 |
T |
A |
10: 95,385,245 (GRCm39) |
T149S |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,597,859 (GRCm39) |
D219E |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,760,560 (GRCm39) |
I1508V |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,038,420 (GRCm39) |
S1635N |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,919 (GRCm39) |
V121A |
probably benign |
Het |
| Snapc4 |
T |
C |
2: 26,258,212 (GRCm39) |
D736G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,811 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
C |
3: 107,521,962 (GRCm39) |
I739V |
probably benign |
Het |
| Tmem161a |
T |
C |
8: 70,629,577 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,547,970 (GRCm39) |
T39A |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,890,175 (GRCm39) |
M926T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,587,624 (GRCm39) |
K19744* |
probably null |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,777 (GRCm39) |
E784G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,940,415 (GRCm39) |
F774S |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,554,909 (GRCm39) |
Y101* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation