Incidental Mutation 'IGL01758:Spats2l'
| ID |
153471 |
| 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: 0.169)
|
| Stock # |
IGL01758
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
57813321-57987553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57918715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 30
(V30L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163239]
[ENSMUST00000164302]
[ENSMUST00000167085]
[ENSMUST00000167971]
[ENSMUST00000169772]
[ENSMUST00000170139]
[ENSMUST00000171699]
[ENSMUST00000172068]
[ENSMUST00000172287]
|
| 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
AA Change: V30L
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: V30L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
149 |
3.6e-25 |
PFAM |
|
Pfam:DUF1387
|
146 |
299 |
1.6e-93 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167085
AA Change: V50L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: V50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
388 |
1.8e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167971
AA Change: V50L
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305
AA Change: V50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
130 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168905
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169772
AA Change: V30L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: V30L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170139
AA Change: V30L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: V30L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171699
AA Change: V50L
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: V50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
169 |
1.2e-25 |
PFAM |
|
Pfam:DUF1387
|
167 |
270 |
2e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172068
AA Change: V50L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
AA Change: V50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
244 |
5e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172287
AA Change: V50L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131125
Gene: ENSMUSG00000038305
AA Change: V50L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
96 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,645 (GRCm39) |
D860G |
possibly damaging |
Het |
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Adam19 |
A |
T |
11: 46,003,751 (GRCm39) |
H193L |
probably benign |
Het |
| AI661453 |
T |
A |
17: 47,777,548 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,983,953 (GRCm39) |
|
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,431,803 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
G |
A |
7: 28,586,048 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,474,269 (GRCm39) |
Q713R |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,844,406 (GRCm39) |
L103Q |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,265,846 (GRCm39) |
T475S |
probably damaging |
Het |
| Dync2i1 |
G |
A |
12: 116,182,418 (GRCm39) |
P728L |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,187,035 (GRCm39) |
D1270E |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,052,659 (GRCm39) |
K275E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,438,058 (GRCm39) |
D426G |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Or13f5 |
G |
T |
4: 52,825,468 (GRCm39) |
E24* |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,518,589 (GRCm39) |
I276K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,977,740 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
T |
A |
3: 79,559,523 (GRCm39) |
I433F |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,187,418 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
G |
1: 106,928,484 (GRCm39) |
F368C |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,361,824 (GRCm39) |
S80R |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,176,080 (GRCm39) |
E195G |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,983,023 (GRCm39) |
|
probably benign |
Het |
| Tmem165 |
A |
G |
5: 76,352,010 (GRCm39) |
T164A |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,085,252 (GRCm39) |
|
probably null |
Het |
| Trip10 |
T |
A |
17: 57,568,409 (GRCm39) |
V405E |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,275 (GRCm39) |
C28* |
probably null |
Het |
| Zbtb8a |
C |
T |
4: 129,251,640 (GRCm39) |
C277Y |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,956,508 (GRCm39) |
F1705S |
probably damaging |
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 |
|
IGL01627:Spats2l
|
APN |
1 |
57,941,241 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation