Incidental Mutation 'IGL01667:Spdya'
| ID |
103341 |
| 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 # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71859056-71896528 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 71863254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064420]
[ENSMUST00000124001]
[ENSMUST00000144142]
[ENSMUST00000167641]
|
| AlphaFold |
Q5IBH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064420
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063214
Gene: ENSMUSG00000052525
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spy1
|
68 |
198 |
8.2e-63 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124001
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118426
Gene: ENSMUSG00000052525
AA Change: M1T
| 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 null
Transcript: ENSMUST00000144142
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118994
Gene: ENSMUSG00000052525
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spy1
|
68 |
198 |
2.2e-62 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167641
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125912
Gene: ENSMUSG00000052525
AA Change: M1T
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly 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 |
|
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 |
2014-01-21 |
Incidental Mutation