Incidental Mutation 'IGL01627:Spats2l'
| ID |
92822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spats2l
|
| Ensembl Gene |
ENSMUSG00000038305 |
| Gene Name |
spermatogenesis associated, serine-rich 2-like |
| Synonyms |
2810022L02Rik, A230104H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL01627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
57813321-57987553 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 57941241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163239]
[ENSMUST00000164302]
[ENSMUST00000167085]
[ENSMUST00000169772]
[ENSMUST00000170139]
[ENSMUST00000171699]
[ENSMUST00000172068]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163239
|
| SMART Domains |
Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
1 |
261 |
9.7e-124 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164302
|
| SMART Domains |
Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
149 |
3.6e-25 |
PFAM |
|
Pfam:DUF1387
|
146 |
299 |
1.6e-93 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164353
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167085
|
| SMART Domains |
Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
388 |
1.8e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169772
|
| SMART Domains |
Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170139
|
| SMART Domains |
Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171699
|
| SMART Domains |
Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
169 |
1.2e-25 |
PFAM |
|
Pfam:DUF1387
|
167 |
270 |
2e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172068
|
| SMART Domains |
Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
244 |
5e-43 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Casp9 |
T |
C |
4: 141,532,853 (GRCm39) |
|
probably benign |
Het |
| Ccdc186 |
G |
A |
19: 56,780,452 (GRCm39) |
T864I |
probably damaging |
Het |
| Cgas |
A |
T |
9: 78,349,996 (GRCm39) |
V57E |
possibly damaging |
Het |
| Chek1 |
T |
A |
9: 36,635,191 (GRCm39) |
H64L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,367 (GRCm39) |
S207P |
probably damaging |
Het |
| Clec4n |
A |
G |
6: 123,221,433 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
G |
A |
1: 24,218,689 (GRCm39) |
|
probably null |
Het |
| Dgkd |
A |
G |
1: 87,808,150 (GRCm39) |
R73G |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,682,915 (GRCm39) |
T562S |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,856,324 (GRCm39) |
T407A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,788,487 (GRCm39) |
D58G |
probably damaging |
Het |
| Fuca1 |
A |
T |
4: 135,652,862 (GRCm39) |
N162I |
possibly damaging |
Het |
| Gramd1a |
T |
C |
7: 30,839,221 (GRCm39) |
D229G |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,208,709 (GRCm39) |
S64P |
probably damaging |
Het |
| Hgd |
T |
G |
16: 37,442,287 (GRCm39) |
V243G |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,412 (GRCm39) |
N639K |
probably benign |
Het |
| Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,405,430 (GRCm39) |
E33G |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,199,111 (GRCm39) |
G148D |
probably damaging |
Het |
| Ntan1 |
C |
T |
16: 13,652,603 (GRCm39) |
T233M |
probably benign |
Het |
| Or6c5 |
A |
T |
10: 129,074,138 (GRCm39) |
N40I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,229,864 (GRCm39) |
I23F |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,708,002 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
T |
C |
2: 163,706,022 (GRCm39) |
Y204C |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,971,461 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,992,219 (GRCm39) |
E725G |
probably damaging |
Het |
| Snx31 |
A |
T |
15: 36,517,818 (GRCm39) |
F366Y |
probably damaging |
Het |
| Tssk4 |
T |
C |
14: 55,888,010 (GRCm39) |
F69L |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,806 (GRCm39) |
L9P |
probably damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,871 (GRCm39) |
I702N |
probably damaging |
Het |
| Vps18 |
C |
A |
2: 119,127,672 (GRCm39) |
R832S |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,748,506 (GRCm39) |
L375P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,008,912 (GRCm39) |
P293T |
possibly damaging |
Het |
| Zyg11b |
T |
C |
4: 108,107,985 (GRCm39) |
I474V |
probably benign |
Het |
|
| Other mutations in Spats2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Spats2l
|
APN |
1 |
57,982,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00788:Spats2l
|
APN |
1 |
57,924,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01758:Spats2l
|
APN |
1 |
57,918,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03395:Spats2l
|
APN |
1 |
57,977,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Spats2l
|
UTSW |
1 |
57,924,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0762:Spats2l
|
UTSW |
1 |
57,925,043 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1167:Spats2l
|
UTSW |
1 |
57,982,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Spats2l
|
UTSW |
1 |
57,939,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1564:Spats2l
|
UTSW |
1 |
57,985,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Spats2l
|
UTSW |
1 |
57,924,941 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2071:Spats2l
|
UTSW |
1 |
57,979,623 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2096:Spats2l
|
UTSW |
1 |
57,985,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2215:Spats2l
|
UTSW |
1 |
57,985,575 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3053:Spats2l
|
UTSW |
1 |
57,939,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Spats2l
|
UTSW |
1 |
57,924,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4814:Spats2l
|
UTSW |
1 |
57,977,085 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4915:Spats2l
|
UTSW |
1 |
57,941,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Spats2l
|
UTSW |
1 |
57,924,983 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5022:Spats2l
|
UTSW |
1 |
57,918,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Spats2l
|
UTSW |
1 |
57,982,380 (GRCm39) |
missense |
probably benign |
|
|
R5561:Spats2l
|
UTSW |
1 |
57,939,780 (GRCm39) |
splice site |
probably null |
|
|
R5773:Spats2l
|
UTSW |
1 |
57,918,708 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5885:Spats2l
|
UTSW |
1 |
57,985,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6136:Spats2l
|
UTSW |
1 |
57,941,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Spats2l
|
UTSW |
1 |
57,985,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6929:Spats2l
|
UTSW |
1 |
57,918,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Spats2l
|
UTSW |
1 |
57,918,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Spats2l
|
UTSW |
1 |
57,977,077 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7274:Spats2l
|
UTSW |
1 |
57,918,672 (GRCm39) |
nonsense |
probably null |
|
|
R7342:Spats2l
|
UTSW |
1 |
57,925,106 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7387:Spats2l
|
UTSW |
1 |
57,941,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Spats2l
|
UTSW |
1 |
57,838,512 (GRCm39) |
splice site |
probably benign |
|
|
R9239:Spats2l
|
UTSW |
1 |
57,871,257 (GRCm39) |
start gained |
probably benign |
|
|
X0054:Spats2l
|
UTSW |
1 |
57,982,402 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation