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)
|
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
Domain | Start | End | E-Value | Type |
Pfam:MIS13
|
72 |
348 |
4.5e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103130
|
SMART Domains |
Protein: ENSMUSP00000099419 Gene: ENSMUSG00000027635
Domain | Start | End | E-Value | Type |
Pfam:MIS13
|
72 |
348 |
4.5e-68 |
PFAM |
|
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 |
probably benign
Transcript: ENSMUST00000146413
|
SMART Domains |
Protein: ENSMUSP00000122524 Gene: ENSMUSG00000027635
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |