Incidental Mutation 'R5293:Spc25'
| ID |
405231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spc25
|
| Ensembl Gene |
ENSMUSG00000005233 |
| Gene Name |
SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) |
| Synonyms |
2600017H08Rik, 2610205L13Rik, Spbc25 |
| MMRRC Submission |
042876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69024239-69036538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69032996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 43
(V43A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005365]
[ENSMUST00000112320]
[ENSMUST00000127243]
[ENSMUST00000149045]
[ENSMUST00000149643]
[ENSMUST00000167875]
|
| AlphaFold |
Q3UA16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005365
AA Change: V91A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233
AA Change: V91A
| 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 |
possibly damaging
Transcript: ENSMUST00000112320
AA Change: V91A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233
AA Change: V91A
| 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
AA Change: V76A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233
AA Change: V76A
| 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 |
possibly damaging
Transcript: ENSMUST00000149045
AA Change: V43A
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120999
Gene: ENSMUSG00000005233
AA Change: V43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spindle_Spc25
|
100 |
133 |
3.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149401
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149643
AA Change: V91A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117415
Gene: ENSMUSG00000005233
AA Change: V91A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
PDB:3IZ0|E
|
99 |
167 |
3e-22 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167875
AA Change: V43A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233
AA Change: V43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spindle_Spc25
|
100 |
174 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150505
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,300,722 (GRCm39) |
V269A |
possibly damaging |
Het |
| Akap9 |
C |
T |
5: 3,998,687 (GRCm39) |
R19W |
probably damaging |
Het |
| Akr7a5 |
G |
T |
4: 139,041,517 (GRCm39) |
R142L |
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,784,649 (GRCm39) |
M311L |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,844 (GRCm39) |
R17H |
probably damaging |
Het |
| Ccdc116 |
A |
T |
16: 16,959,651 (GRCm39) |
L346Q |
possibly damaging |
Het |
| Copg2 |
T |
A |
6: 30,803,162 (GRCm39) |
N261I |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,170,871 (GRCm39) |
E648G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,868,851 (GRCm39) |
K2334Q |
probably benign |
Het |
| Foxa2 |
T |
C |
2: 147,885,922 (GRCm39) |
T123A |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,601,382 (GRCm39) |
V299A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,733,640 (GRCm39) |
S26P |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,136,883 (GRCm39) |
S84G |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,047,235 (GRCm39) |
H45R |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,176 (GRCm39) |
Y626H |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,626,970 (GRCm39) |
V16D |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,023,599 (GRCm39) |
N280S |
probably benign |
Het |
| Myl7 |
T |
A |
11: 5,848,521 (GRCm39) |
|
probably benign |
Het |
| Ngef |
CCCTCCTCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTCCTCCTC |
1: 87,431,151 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,330,614 (GRCm39) |
L594R |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,131 (GRCm39) |
H246L |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,813,611 (GRCm39) |
K269N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,486 (GRCm39) |
T162A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,399,146 (GRCm39) |
V2070A |
probably benign |
Het |
| Plcxd2 |
G |
T |
16: 45,800,706 (GRCm39) |
H173N |
probably damaging |
Het |
| Plec |
C |
G |
15: 76,083,783 (GRCm39) |
W26C |
probably benign |
Het |
| Psmc1 |
C |
T |
12: 100,081,731 (GRCm39) |
T111I |
probably benign |
Het |
| Rbfa |
T |
C |
18: 80,235,981 (GRCm39) |
E256G |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,046,050 (GRCm39) |
T173S |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,603,426 (GRCm39) |
V149E |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,665,757 (GRCm39) |
S186P |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,908,111 (GRCm39) |
D29G |
probably benign |
Het |
| Spen |
G |
A |
4: 141,199,717 (GRCm39) |
A2947V |
possibly damaging |
Het |
| Spta1 |
T |
C |
1: 174,023,551 (GRCm39) |
S653P |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,872,596 (GRCm39) |
Y411* |
probably null |
Het |
| Synrg |
C |
T |
11: 83,872,325 (GRCm39) |
L149F |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,946,377 (GRCm39) |
A1085V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,571,276 (GRCm39) |
E18212G |
probably damaging |
Het |
| Wnk4 |
T |
G |
11: 101,166,023 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02273:Spc25
|
APN |
2 |
69,035,273 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGGTCTGTCTATGCCC -3'
(R):5'- GGAACTGAAGGAGTCATAATCTTCTG -3'
Sequencing Primer
(F):5'- GTCTATGCCCTTAAGTGTAGTCTAC -3'
(R):5'- GCCAAAGAATTGTGAGTTTCAGGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation