Incidental Mutation 'IGL01065:Spdya'
| ID |
52999 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.387)
|
| Stock # |
IGL01065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71859056-71896528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71863320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 23
(N23I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064420]
[ENSMUST00000124001]
[ENSMUST00000144142]
[ENSMUST00000167641]
|
| AlphaFold |
Q5IBH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064420
AA Change: N23I
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063214
Gene: ENSMUSG00000052525
AA Change: N23I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spy1
|
68 |
198 |
8.2e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124001
AA Change: N23I
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118426
Gene: ENSMUSG00000052525
AA Change: N23I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spy1
|
68 |
198 |
1.5e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137830
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144142
AA Change: N23I
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118994
Gene: ENSMUSG00000052525
AA Change: N23I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spy1
|
68 |
198 |
2.2e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167641
AA Change: N23I
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125912
Gene: ENSMUSG00000052525
AA Change: N23I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spy1
|
68 |
198 |
5.1e-69 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,053,299 (GRCm39) |
Y1247C |
probably damaging |
Het |
| Atg16l1 |
A |
T |
1: 87,713,653 (GRCm39) |
N401I |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,490,724 (GRCm39) |
H591R |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,946,015 (GRCm39) |
S446G |
possibly damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,005 (GRCm39) |
S262P |
probably damaging |
Het |
| Clrn1 |
T |
C |
3: 58,792,446 (GRCm39) |
K6E |
probably damaging |
Het |
| D17H6S53E |
A |
T |
17: 35,346,259 (GRCm39) |
K57* |
probably null |
Het |
| Dennd1a |
T |
A |
2: 37,734,917 (GRCm39) |
I17F |
probably benign |
Het |
| Depdc7 |
A |
C |
2: 104,552,426 (GRCm39) |
Y460* |
probably null |
Het |
| Disp3 |
T |
C |
4: 148,345,640 (GRCm39) |
Y400C |
probably damaging |
Het |
| Edem3 |
T |
C |
1: 151,653,302 (GRCm39) |
Y203H |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,902,676 (GRCm39) |
C679R |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,632,923 (GRCm39) |
T1194A |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,895,224 (GRCm39) |
D473G |
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,808,294 (GRCm39) |
L253P |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,230 (GRCm39) |
Y192H |
probably damaging |
Het |
| Hoxb6 |
A |
G |
11: 96,191,635 (GRCm39) |
T186A |
probably damaging |
Het |
| Kif24 |
A |
G |
4: 41,423,639 (GRCm39) |
|
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,500 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,410,907 (GRCm39) |
I1427T |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,299,780 (GRCm39) |
E3091K |
possibly damaging |
Het |
| Lzts1 |
T |
C |
8: 69,588,744 (GRCm39) |
N404S |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,451,877 (GRCm39) |
D1470E |
probably damaging |
Het |
| Med30 |
A |
T |
15: 52,584,456 (GRCm39) |
N125Y |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,639,644 (GRCm39) |
|
probably null |
Het |
| Mrps33 |
G |
A |
6: 39,779,447 (GRCm39) |
R83* |
probably null |
Het |
| Notch3 |
A |
T |
17: 32,365,390 (GRCm39) |
Y1107* |
probably null |
Het |
| Rc3h2 |
T |
A |
2: 37,267,856 (GRCm39) |
|
probably benign |
Het |
| Rev1 |
T |
C |
1: 38,138,090 (GRCm39) |
E65G |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,394,893 (GRCm39) |
N760S |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,210,416 (GRCm39) |
I362T |
possibly damaging |
Het |
| Slc25a24 |
G |
A |
3: 109,065,967 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
G |
T |
11: 69,836,782 (GRCm39) |
|
probably benign |
Het |
| Slc39a13 |
T |
A |
2: 90,894,051 (GRCm39) |
I256F |
probably damaging |
Het |
| Srpra |
T |
A |
9: 35,124,734 (GRCm39) |
W112R |
probably damaging |
Het |
| Tbc1d4 |
A |
C |
14: 101,686,629 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
G |
A |
17: 80,523,703 (GRCm39) |
G121R |
probably damaging |
Het |
| Tuba3a |
C |
T |
6: 125,259,920 (GRCm39) |
V9M |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,966,111 (GRCm39) |
K244E |
unknown |
Het |
| Usp39 |
T |
C |
6: 72,316,958 (GRCm39) |
Y141C |
probably damaging |
Het |
|
| Other mutations in Spdya |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation