Incidental Mutation 'IGL02273:Spc25'
| ID |
287263 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spc25
|
| Ensembl Gene |
ENSMUSG00000005233 |
| Gene Name |
SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) |
| Synonyms |
2600017H08Rik, 2610205L13Rik, Spbc25 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69024239-69036538 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 69035273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005365]
[ENSMUST00000112320]
[ENSMUST00000127243]
[ENSMUST00000149045]
[ENSMUST00000149643]
[ENSMUST00000167875]
|
| AlphaFold |
Q3UA16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005365
|
| SMART Domains |
Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:Spindle_Spc25
|
148 |
222 |
6.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112320
|
| SMART Domains |
Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:Spindle_Spc25
|
150 |
221 |
1.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126638
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127243
|
| SMART Domains |
Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
coiled coil region
|
57 |
113 |
N/A |
INTRINSIC |
|
Pfam:Spindle_Spc25
|
133 |
207 |
4.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149045
|
| SMART Domains |
Protein: ENSMUSP00000120999
Gene: ENSMUSG00000005233
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spindle_Spc25
|
100 |
133 |
3.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149643
|
| SMART Domains |
Protein: ENSMUSP00000117415
Gene: ENSMUSG00000005233
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
PDB:3IZ0|E
|
99 |
167 |
3e-22 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167875
|
| SMART Domains |
Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spindle_Spc25
|
100 |
174 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150505
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a component of the kinetochore-associated NDC80 protein complex, which is required for the mitotic spindle checkpoint and for microtubule-kinetochore attachment. During meiosis in mouse, the protein localizes to the germinal vesicle and then is associated with the chromosomes following germinal vesicle breakdown. Knockdown of this gene in oocytes results in precocious polar body extrusion, chromosome misalignment and aberrant spindle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably damaging |
Het |
|
| Other mutations in Spc25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Spc25
|
APN |
2 |
69,032,952 (GRCm39) |
nonsense |
probably null |
|
|
IGL03163:Spc25
|
APN |
2 |
69,027,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Spc25
|
UTSW |
2 |
69,030,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Spc25
|
UTSW |
2 |
69,035,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2913:Spc25
|
UTSW |
2 |
69,030,331 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3973:Spc25
|
UTSW |
2 |
69,032,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Spc25
|
UTSW |
2 |
69,032,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4444:Spc25
|
UTSW |
2 |
69,035,220 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5293:Spc25
|
UTSW |
2 |
69,032,996 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6242:Spc25
|
UTSW |
2 |
69,027,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Spc25
|
UTSW |
2 |
69,036,446 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6721:Spc25
|
UTSW |
2 |
69,027,517 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7712:Spc25
|
UTSW |
2 |
69,036,481 (GRCm39) |
missense |
unknown |
|
|
R7866:Spc25
|
UTSW |
2 |
69,036,406 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8054:Spc25
|
UTSW |
2 |
69,035,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation