Incidental Mutation 'R3028:Spc24'
| ID |
265886 |
| 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 |
040544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
R3028 (G1)
|
| Quality Score |
191 |
|
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: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt2 |
T |
G |
8: 18,753,560 (GRCm39) |
K289Q |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,707,672 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,095 (GRCm39) |
K752E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,628 (GRCm39) |
F37S |
possibly damaging |
Het |
| Gtpbp1 |
C |
T |
15: 79,600,080 (GRCm39) |
T369I |
possibly damaging |
Het |
| Hcrtr1 |
C |
A |
4: 130,029,604 (GRCm39) |
R159L |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,264,135 (GRCm39) |
I809V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhdc4 |
C |
T |
8: 122,526,288 (GRCm39) |
V284M |
probably damaging |
Het |
| N6amt1 |
C |
G |
16: 87,159,536 (GRCm39) |
H147Q |
probably benign |
Het |
| Pdgfra |
A |
T |
5: 75,335,642 (GRCm39) |
H425L |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,634,245 (GRCm39) |
A240V |
probably damaging |
Het |
| Ppib |
A |
T |
9: 65,973,589 (GRCm39) |
K181* |
probably null |
Het |
| Rab11fip3 |
A |
G |
17: 26,234,916 (GRCm39) |
|
probably null |
Het |
| Sftpc |
A |
T |
14: 70,758,865 (GRCm39) |
H161Q |
probably benign |
Het |
| Sigirr |
A |
G |
7: 140,672,192 (GRCm39) |
L251P |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 113,093,690 (GRCm39) |
M151K |
possibly damaging |
Het |
| Speer3 |
T |
A |
5: 13,845,445 (GRCm39) |
N159K |
probably damaging |
Het |
| Spire1 |
A |
C |
18: 67,624,417 (GRCm39) |
S581A |
probably damaging |
Het |
| Susd6 |
C |
T |
12: 80,921,234 (GRCm39) |
T277I |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
|
R3026:Spc24
|
UTSW |
9 |
21,667,511 (GRCm39) |
makesense |
probably null |
|
|
R3027: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'- AATGTAGTAGATCGTTTTCTCAGCCTG -3'
Sequencing Primer
(F):5'- GGACTCCATGCTGTCTCAAAG -3'
(R):5'- GCTGCAAATCCTTGGTGAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation