Incidental Mutation 'R4225:Spdya'
ID |
320016 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spdya
|
Ensembl Gene |
ENSMUSG00000052525 |
Gene Name |
speedy/RINGO cell cycle regulator family, member A |
Synonyms |
speedy A1, speedy/ringo, Spdy1, 4921517J08Rik, 4930548B21Rik, speedy A2 |
MMRRC Submission |
041045-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.387)
|
Stock # |
R4225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
71859056-71896528 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 71869519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 105
(V105I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064420]
[ENSMUST00000124001]
[ENSMUST00000144142]
[ENSMUST00000167641]
|
AlphaFold |
Q5IBH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064420
AA Change: V105I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000063214 Gene: ENSMUSG00000052525 AA Change: V105I
Domain | Start | End | E-Value | Type |
Pfam:Spy1
|
68 |
198 |
8.2e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124001
AA Change: V105I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000118426 Gene: ENSMUSG00000052525 AA Change: V105I
Domain | Start | End | E-Value | Type |
Pfam:Spy1
|
68 |
198 |
1.5e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137830
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144142
AA Change: V105I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000118994 Gene: ENSMUSG00000052525 AA Change: V105I
Domain | Start | End | E-Value | Type |
Pfam:Spy1
|
68 |
198 |
2.2e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167641
AA Change: V105I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000125912 Gene: ENSMUSG00000052525 AA Change: V105I
Domain | Start | End | E-Value | Type |
Pfam:Spy1
|
68 |
198 |
5.1e-69 |
PFAM |
|
Meta Mutation Damage Score |
0.0710 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene results in impaired telomere attachment to the nuclear envelope during early meiosis, abnormal chromosome pairing and homologous synapsis, and meiotic prophase I arrest in male and female germ cells leading to infertility in both sexes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,085,106 (GRCm39) |
I569V |
possibly damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,288,343 (GRCm39) |
D471G |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,607,789 (GRCm39) |
V240A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,983,932 (GRCm39) |
M3374T |
unknown |
Het |
Ccdc66 |
A |
G |
14: 27,212,736 (GRCm39) |
L529P |
probably damaging |
Het |
Ctif |
A |
G |
18: 75,568,308 (GRCm39) |
I610T |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,847,027 (GRCm39) |
Y512N |
probably damaging |
Het |
Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
Gba2 |
A |
T |
4: 43,569,464 (GRCm39) |
|
probably benign |
Het |
Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,814,735 (GRCm39) |
E2696G |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,904,484 (GRCm39) |
K319M |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Lrig1 |
T |
A |
6: 94,599,639 (GRCm39) |
I348F |
probably damaging |
Het |
Mc3r |
G |
A |
2: 172,090,954 (GRCm39) |
V59M |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,422,431 (GRCm39) |
K575R |
probably benign |
Het |
Musk |
A |
T |
4: 58,373,240 (GRCm39) |
M714L |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,181,732 (GRCm39) |
|
probably null |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,812,497 (GRCm39) |
I3810T |
possibly damaging |
Het |
Pou2f1 |
T |
C |
1: 165,738,889 (GRCm39) |
I177V |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,506,631 (GRCm39) |
M373V |
possibly damaging |
Het |
Ric1 |
A |
G |
19: 29,580,131 (GRCm39) |
N1311D |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,366,771 (GRCm39) |
Y84H |
probably damaging |
Het |
Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
Stpg2 |
G |
A |
3: 138,921,053 (GRCm39) |
R86Q |
probably damaging |
Het |
Tdrd6 |
C |
T |
17: 43,936,864 (GRCm39) |
D1395N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,831,951 (GRCm39) |
I649N |
probably damaging |
Het |
Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
Het |
|
Other mutations in Spdya |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01065:Spdya
|
APN |
17 |
71,863,320 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01667:Spdya
|
APN |
17 |
71,863,254 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02103:Spdya
|
APN |
17 |
71,885,242 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02934:Spdya
|
APN |
17 |
71,863,395 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03220:Spdya
|
APN |
17 |
71,885,286 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0143:Spdya
|
UTSW |
17 |
71,865,635 (GRCm39) |
missense |
probably damaging |
0.96 |
R0570:Spdya
|
UTSW |
17 |
71,869,585 (GRCm39) |
critical splice donor site |
probably null |
|
R1666:Spdya
|
UTSW |
17 |
71,885,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R4019:Spdya
|
UTSW |
17 |
71,863,309 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4224:Spdya
|
UTSW |
17 |
71,869,519 (GRCm39) |
missense |
probably benign |
0.07 |
R4663:Spdya
|
UTSW |
17 |
71,885,339 (GRCm39) |
missense |
probably benign |
0.04 |
R5013:Spdya
|
UTSW |
17 |
71,869,499 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5038:Spdya
|
UTSW |
17 |
71,895,561 (GRCm39) |
intron |
probably benign |
|
R5583:Spdya
|
UTSW |
17 |
71,876,126 (GRCm39) |
missense |
probably damaging |
0.99 |
R8323:Spdya
|
UTSW |
17 |
71,895,587 (GRCm39) |
missense |
probably benign |
0.39 |
R9664:Spdya
|
UTSW |
17 |
71,869,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAAGTGGATTAACTCTGGGG -3'
(R):5'- TGGCATGTAATGTAAGGCCAATG -3'
Sequencing Primer
(F):5'- GTACTCAGGTGACTGTATACAG -3'
(R):5'- TAATTTTCCCACACAAGATGGC -3'
|
Posted On |
2015-06-12 |