Incidental Mutation 'R4224:Spdya'
| ID |
319983 |
| 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 |
041044-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.377)
|
| Stock # |
R4224 (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: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
95% (42/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
T |
C |
15: 40,005,672 (GRCm39) |
|
probably null |
Het |
| Abl2 |
A |
G |
1: 156,461,417 (GRCm39) |
T440A |
probably damaging |
Het |
| Acat2 |
T |
C |
17: 13,181,772 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
C |
T |
9: 54,523,325 (GRCm39) |
R434H |
possibly damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,916,008 (GRCm39) |
N209K |
probably damaging |
Het |
| Atp6v1a |
C |
A |
16: 43,922,174 (GRCm39) |
A355S |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,500,451 (GRCm39) |
E391G |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,094,627 (GRCm39) |
S814R |
probably benign |
Het |
| Fer1l4 |
A |
C |
2: 155,862,309 (GRCm39) |
V1788G |
probably benign |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,659,960 (GRCm39) |
K112R |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,232 (GRCm39) |
V1334A |
probably damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,153 (GRCm39) |
H70D |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,115 (GRCm39) |
Y147* |
probably null |
Het |
| Mr1 |
A |
T |
1: 155,006,465 (GRCm39) |
I294N |
possibly damaging |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,794,896 (GRCm39) |
Y235F |
probably benign |
Het |
| Pals1 |
A |
G |
12: 78,876,492 (GRCm39) |
K479E |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,269,617 (GRCm39) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,327,649 (GRCm39) |
R1879* |
probably null |
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 |
| Tnnt1 |
T |
C |
7: 4,513,006 (GRCm39) |
H92R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,107,289 (GRCm39) |
C907S |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Tssk3 |
T |
C |
4: 129,384,392 (GRCm39) |
D3G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,902 (GRCm39) |
Y521H |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,506 (GRCm39) |
I108T |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,876,565 (GRCm39) |
T2799A |
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 |
|
R4225: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 |
Incidental Mutation