Incidental Mutation 'R3026:Spc24'
ID |
265821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spc24
|
Ensembl Gene |
ENSMUSG00000074476 |
Gene Name |
SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) |
Synonyms |
Spbc24, 2410030K01Rik |
MMRRC Submission |
040542-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R3026 (G1)
|
Quality Score |
199 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
21666738-21671599 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
AGAGGTAGTCACTGA to AGA
at 21667511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098942]
[ENSMUST00000214149]
[ENSMUST00000216057]
[ENSMUST00000217382]
|
AlphaFold |
Q9D083 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098942
|
SMART Domains |
Protein: ENSMUSP00000096541 Gene: ENSMUSG00000074476
Domain | Start | End | E-Value | Type |
Pfam:Spc24
|
75 |
192 |
1.1e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213665
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214149
|
Predicted Effect |
probably null
Transcript: ENSMUST00000216057
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217382
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
BC051665 |
T |
A |
13: 60,932,521 (GRCm39) |
N55Y |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,882,418 (GRCm39) |
T25A |
probably benign |
Het |
Eef1akmt1 |
A |
T |
14: 57,787,891 (GRCm39) |
S156T |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,080,384 (GRCm39) |
H124R |
probably benign |
Het |
Gba2 |
C |
A |
4: 43,578,308 (GRCm39) |
A14S |
possibly damaging |
Het |
Iqgap2 |
T |
A |
13: 95,809,564 (GRCm39) |
|
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Mapk8ip2 |
C |
T |
15: 89,345,649 (GRCm39) |
A803V |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,660,465 (GRCm39) |
S702P |
probably damaging |
Het |
Nudt14 |
T |
C |
12: 112,905,612 (GRCm39) |
Q27R |
probably null |
Het |
Or51h1 |
T |
C |
7: 102,308,336 (GRCm39) |
F103L |
possibly damaging |
Het |
Pdilt |
T |
A |
7: 119,114,177 (GRCm39) |
Q107L |
probably benign |
Het |
Rasgrp3 |
T |
C |
17: 75,831,916 (GRCm39) |
V579A |
possibly damaging |
Het |
Rasl11a |
G |
A |
5: 146,784,187 (GRCm39) |
V211I |
probably benign |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,062,656 (GRCm39) |
S867P |
possibly damaging |
Het |
Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
Usp48 |
A |
G |
4: 137,321,755 (GRCm39) |
E49G |
probably benign |
Het |
Vmn1r202 |
C |
T |
13: 22,685,932 (GRCm39) |
V162I |
probably benign |
Het |
|
Other mutations in Spc24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0331:Spc24
|
UTSW |
9 |
21,668,609 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3027:Spc24
|
UTSW |
9 |
21,667,511 (GRCm39) |
makesense |
probably null |
|
R3028:Spc24
|
UTSW |
9 |
21,667,511 (GRCm39) |
makesense |
probably null |
|
R4231:Spc24
|
UTSW |
9 |
21,667,498 (GRCm39) |
splice site |
probably null |
|
R4233:Spc24
|
UTSW |
9 |
21,667,498 (GRCm39) |
splice site |
probably null |
|
R4236:Spc24
|
UTSW |
9 |
21,667,498 (GRCm39) |
splice site |
probably null |
|
R5635:Spc24
|
UTSW |
9 |
21,668,686 (GRCm39) |
missense |
probably damaging |
0.99 |
R7371:Spc24
|
UTSW |
9 |
21,668,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R8400:Spc24
|
UTSW |
9 |
21,669,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8892:Spc24
|
UTSW |
9 |
21,668,994 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGCCTGGACTCCATG -3'
(R):5'- TAGATCGTTTTCTCAGCCTGC -3'
Sequencing Primer
(F):5'- GGACTCCATGCTGTCTCAAAG -3'
(R):5'- GCTGCAAATCCTTGGTGAAC -3'
|
Posted On |
2015-02-05 |