Incidental Mutation 'R2852:Spata1'
ID |
252287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata1
|
Ensembl Gene |
ENSMUSG00000028188 |
Gene Name |
spermatogenesis associated 1 |
Synonyms |
4921536I21Rik, SP-2 |
MMRRC Submission |
040445-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R2852 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
146162951-146205508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146193295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 96
(L96P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029839]
[ENSMUST00000093951]
[ENSMUST00000197980]
|
AlphaFold |
Q9D5R4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029839
AA Change: L96P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029839 Gene: ENSMUSG00000028188 AA Change: L96P
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
Pfam:SPATA1_C
|
279 |
428 |
1.7e-56 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093951
AA Change: L96P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000091483 Gene: ENSMUSG00000028188 AA Change: L96P
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197684
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197980
AA Change: L96P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142800 Gene: ENSMUSG00000028188 AA Change: L96P
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
267 |
365 |
8e-5 |
SMART |
|
Meta Mutation Damage Score |
0.0775 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
Other mutations in Spata1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01085:Spata1
|
APN |
3 |
146,181,997 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01306:Spata1
|
APN |
3 |
146,193,154 (GRCm39) |
nonsense |
probably null |
|
IGL01537:Spata1
|
APN |
3 |
146,195,558 (GRCm39) |
splice site |
probably benign |
|
IGL02363:Spata1
|
APN |
3 |
146,193,119 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02873:Spata1
|
APN |
3 |
146,193,122 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02898:Spata1
|
APN |
3 |
146,181,094 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03071:Spata1
|
APN |
3 |
146,181,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03204:Spata1
|
APN |
3 |
146,194,434 (GRCm39) |
missense |
probably benign |
0.18 |
ANU23:Spata1
|
UTSW |
3 |
146,193,154 (GRCm39) |
nonsense |
probably null |
|
H8930:Spata1
|
UTSW |
3 |
146,193,026 (GRCm39) |
nonsense |
probably null |
|
R0414:Spata1
|
UTSW |
3 |
146,181,943 (GRCm39) |
splice site |
probably null |
|
R1109:Spata1
|
UTSW |
3 |
146,181,053 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1742:Spata1
|
UTSW |
3 |
146,175,378 (GRCm39) |
critical splice donor site |
probably null |
|
R1816:Spata1
|
UTSW |
3 |
146,186,962 (GRCm39) |
missense |
probably damaging |
0.98 |
R2006:Spata1
|
UTSW |
3 |
146,199,438 (GRCm39) |
missense |
probably benign |
0.18 |
R2851:Spata1
|
UTSW |
3 |
146,193,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3416:Spata1
|
UTSW |
3 |
146,193,263 (GRCm39) |
splice site |
probably benign |
|
R3911:Spata1
|
UTSW |
3 |
146,181,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R4856:Spata1
|
UTSW |
3 |
146,175,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R4859:Spata1
|
UTSW |
3 |
146,175,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R4886:Spata1
|
UTSW |
3 |
146,175,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R6902:Spata1
|
UTSW |
3 |
146,181,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7459:Spata1
|
UTSW |
3 |
146,181,977 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7532:Spata1
|
UTSW |
3 |
146,173,946 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7997:Spata1
|
UTSW |
3 |
146,182,035 (GRCm39) |
missense |
probably benign |
0.44 |
R8194:Spata1
|
UTSW |
3 |
146,195,614 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8673:Spata1
|
UTSW |
3 |
146,181,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTGATGCTGAATAAACATTTCCT -3'
(R):5'- ACACCAATTCCCATGCAAATGAT -3'
Sequencing Primer
(F):5'- TCCTAAGTGATCTATTACAGGAAGC -3'
(R):5'- TCAGTTAAGTTTGGTTCAGTGAATAG -3'
|
Posted On |
2014-12-04 |