Incidental Mutation 'IGL03014:Dsn1'
| ID |
453300 |
| 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 # |
IGL03014 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156837185-156849074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156838739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 292
(M292K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000103129
AA Change: M292K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635
AA Change: M292K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIS13
|
72 |
348 |
4.5e-68 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103130
AA Change: M292K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635
AA Change: M292K
| 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: ENSMUST00000131955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156651
|
| 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 |
|
| Meta Mutation Damage Score |
0.9156 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
96% (51/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| AW112010 |
A |
G |
19: 11,025,456 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc134 |
T |
C |
15: 82,014,306 (GRCm39) |
L13P |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,329,861 (GRCm39) |
V395F |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,954,331 (GRCm39) |
S730* |
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,431,608 (GRCm38) |
*675Q |
probably null |
Het |
| Chrng |
G |
T |
1: 87,138,759 (GRCm39) |
|
probably null |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
T |
4: 128,190,222 (GRCm39) |
M387I |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,594,379 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
C |
T |
13: 25,042,075 (GRCm39) |
P335S |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,174,351 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Efemp1 |
A |
G |
11: 28,876,218 (GRCm39) |
Y461C |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,242,901 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,420,393 (GRCm39) |
Y1010F |
probably damaging |
Het |
| Igha |
A |
G |
12: 113,222,713 (GRCm39) |
V236A |
unknown |
Het |
| Igsf9b |
T |
C |
9: 27,233,932 (GRCm39) |
M377T |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,457,212 (GRCm39) |
T108A |
probably benign |
Het |
| Kcna3 |
A |
T |
3: 106,945,206 (GRCm39) |
M490L |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,673,024 (GRCm39) |
Y886F |
possibly damaging |
Het |
| Lcorl |
T |
C |
5: 45,931,371 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Odr4 |
C |
A |
1: 150,258,804 (GRCm39) |
|
probably benign |
Het |
| Or1a1b |
G |
A |
11: 74,097,653 (GRCm39) |
L130F |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,362,753 (GRCm39) |
V289E |
probably null |
Het |
| Pex10 |
A |
G |
4: 155,155,076 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,918,029 (GRCm39) |
V943M |
possibly damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,294 (GRCm39) |
T164S |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,308 (GRCm39) |
L910Q |
probably damaging |
Het |
| Rab1b |
T |
C |
19: 5,154,923 (GRCm39) |
I41V |
probably benign |
Het |
| Scpep1 |
T |
A |
11: 88,824,271 (GRCm39) |
|
probably null |
Het |
| Sergef |
T |
C |
7: 46,240,180 (GRCm39) |
T288A |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,248,726 (GRCm39) |
P397S |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,029,423 (GRCm39) |
D230E |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,002,539 (GRCm39) |
|
probably benign |
Het |
| Smad5 |
T |
C |
13: 56,883,754 (GRCm39) |
L380P |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,532,675 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,500 (GRCm39) |
D346G |
probably benign |
Het |
| Trav7d-4 |
T |
A |
14: 53,007,353 (GRCm39) |
W12R |
unknown |
Het |
| Trmt1l |
G |
T |
1: 151,333,681 (GRCm39) |
W728L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,458,198 (GRCm39) |
T559K |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,711 (GRCm39) |
I246F |
possibly damaging |
Het |
| Zfp618 |
A |
T |
4: 62,998,325 (GRCm39) |
Q109L |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTTCTGTCTGGAAAGGC -3'
(R):5'- AAAACTAGAGGGCCTGGCATC -3'
Sequencing Primer
(F):5'- CTGGAAAGGCAGTTTGCATCTC -3'
(R):5'- CTAGAGGGCCTGGCATCTTGTG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation