Incidental Mutation 'IGL01306:Spata1'
| ID |
73454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata1
|
| Ensembl Gene |
ENSMUSG00000028188 |
| Gene Name |
spermatogenesis associated 1 |
| Synonyms |
4921536I21Rik, SP-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
IGL01306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146162951-146205508 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 146193154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 112
(Y112*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029839]
[ENSMUST00000093951]
[ENSMUST00000197980]
|
| AlphaFold |
Q9D5R4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029839
AA Change: Y112*
|
| SMART Domains |
Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: Y112*
| 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 |
probably benign
Transcript: ENSMUST00000093951
|
| SMART Domains |
Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188
| 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 |
probably null
Transcript: ENSMUST00000197980
AA Change: Y112*
|
| SMART Domains |
Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: Y112*
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
G |
A |
12: 70,215,822 (GRCm39) |
G88S |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,051 (GRCm39) |
F230S |
probably benign |
Het |
| Ago4 |
T |
C |
4: 126,409,677 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,303,273 (GRCm39) |
A28S |
probably benign |
Het |
| Anks1 |
C |
A |
17: 28,205,227 (GRCm39) |
T262K |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,710 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,059,162 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
T |
A |
1: 136,225,528 (GRCm39) |
E199D |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,656,429 (GRCm39) |
M128K |
probably benign |
Het |
| Ccdc38 |
T |
C |
10: 93,405,797 (GRCm39) |
|
probably null |
Het |
| Cep95 |
G |
A |
11: 106,704,641 (GRCm39) |
V499I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,706 (GRCm39) |
I299F |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,428 (GRCm39) |
Y278* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,625,179 (GRCm39) |
N558D |
possibly damaging |
Het |
| Edar |
A |
T |
10: 58,464,460 (GRCm39) |
C60S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,201,698 (GRCm39) |
N459D |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,251,785 (GRCm39) |
V243M |
possibly damaging |
Het |
| Fem1b |
G |
A |
9: 62,704,810 (GRCm39) |
A150V |
possibly damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,125,432 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
T |
C |
11: 115,147,020 (GRCm39) |
T392A |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,572,362 (GRCm39) |
E117G |
probably damaging |
Het |
| Kif12 |
G |
T |
4: 63,084,121 (GRCm39) |
P627Q |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,255 (GRCm39) |
F88L |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,081,980 (GRCm39) |
N248D |
possibly damaging |
Het |
| Or2i1 |
T |
C |
17: 37,507,833 (GRCm39) |
N342S |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,039 (GRCm39) |
N2D |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,233,900 (GRCm39) |
Y224H |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,376,555 (GRCm39) |
H106R |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,827,229 (GRCm39) |
T486S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,485,595 (GRCm39) |
V474A |
possibly damaging |
Het |
| Scamp4 |
C |
A |
10: 80,445,256 (GRCm39) |
Q34K |
probably damaging |
Het |
| Serpinb3b |
A |
G |
1: 107,082,395 (GRCm39) |
Y290H |
probably damaging |
Het |
| Sft2d2 |
G |
T |
1: 165,011,564 (GRCm39) |
A110E |
probably benign |
Het |
| Siglecf |
T |
A |
7: 43,001,377 (GRCm39) |
L115* |
probably null |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,892,313 (GRCm39) |
K18* |
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,056,620 (GRCm39) |
T440I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,787,965 (GRCm39) |
E462V |
probably damaging |
Het |
| Wnt16 |
C |
T |
6: 22,297,934 (GRCm39) |
R267C |
probably damaging |
Het |
| Xylt1 |
A |
C |
7: 117,148,125 (GRCm39) |
S230R |
probably benign |
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 |
|
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 |
|
R2852: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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation