Incidental Mutation 'R3784:Spats2l'
ID |
272153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spats2l
|
Ensembl Gene |
ENSMUSG00000038305 |
Gene Name |
spermatogenesis associated, serine-rich 2-like |
Synonyms |
2810022L02Rik, A230104H11Rik |
MMRRC Submission |
040876-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R3784 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
57813321-57987553 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57924938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 112
(E112G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126166
(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 |
possibly damaging
Transcript: ENSMUST00000164302
AA Change: E92G
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132592 Gene: ENSMUSG00000038305 AA Change: E92G
Domain | Start | End | E-Value | Type |
Pfam:DUF1387
|
59 |
149 |
3.6e-25 |
PFAM |
Pfam:DUF1387
|
146 |
299 |
1.6e-93 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167085
AA Change: E112G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133054 Gene: ENSMUSG00000038305 AA Change: E112G
Domain | Start | End | E-Value | Type |
Pfam:DUF1387
|
79 |
388 |
1.8e-130 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167971
AA Change: E112G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128764 Gene: ENSMUSG00000038305 AA Change: E112G
Domain | Start | End | E-Value | Type |
Pfam:DUF1387
|
79 |
130 |
4.2e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169772
AA Change: E92G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132975 Gene: ENSMUSG00000038305 AA Change: E92G
Domain | Start | End | E-Value | Type |
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170139
AA Change: E92G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127598 Gene: ENSMUSG00000038305 AA Change: E92G
Domain | Start | End | E-Value | Type |
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171699
AA Change: E112G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128239 Gene: ENSMUSG00000038305 AA Change: E112G
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: E112G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126166 Gene: ENSMUSG00000038305 AA Change: E112G
Domain | Start | End | E-Value | Type |
Pfam:DUF1387
|
79 |
244 |
5e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172287
|
SMART Domains |
Protein: ENSMUSP00000131125 Gene: ENSMUSG00000038305
Domain | Start | End | E-Value | Type |
low complexity region
|
84 |
96 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1626 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
Adam11 |
T |
C |
11: 102,665,193 (GRCm39) |
|
probably null |
Het |
Ank2 |
A |
G |
3: 126,746,842 (GRCm39) |
L581P |
probably damaging |
Het |
Armc2 |
T |
C |
10: 41,798,190 (GRCm39) |
I779V |
probably benign |
Het |
Atp8a2 |
A |
T |
14: 60,011,415 (GRCm39) |
Y965N |
probably damaging |
Het |
C3 |
A |
G |
17: 57,533,067 (GRCm39) |
V146A |
probably damaging |
Het |
Cfap206 |
A |
T |
4: 34,716,445 (GRCm39) |
I340N |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
Drosha |
A |
G |
15: 12,890,615 (GRCm39) |
D954G |
possibly damaging |
Het |
Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,147,012 (GRCm39) |
A3995T |
probably benign |
Het |
Foxg1 |
A |
G |
12: 49,432,382 (GRCm39) |
T372A |
probably benign |
Het |
Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
Hook1 |
T |
C |
4: 95,877,888 (GRCm39) |
F55L |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,019,328 (GRCm39) |
K986R |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
Klra8 |
T |
A |
6: 130,102,018 (GRCm39) |
D139V |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,998,298 (GRCm39) |
Y20C |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
Ncoa6 |
G |
A |
2: 155,249,677 (GRCm39) |
T1209I |
probably damaging |
Het |
Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,509,551 (GRCm39) |
D633G |
probably damaging |
Het |
Plekhg3 |
T |
C |
12: 76,607,294 (GRCm39) |
|
probably null |
Het |
Plxna2 |
T |
A |
1: 194,326,925 (GRCm39) |
D286E |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Prmt7 |
C |
A |
8: 106,968,768 (GRCm39) |
Q361K |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,537,238 (GRCm39) |
|
probably benign |
Het |
Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rad51b |
C |
T |
12: 79,347,419 (GRCm39) |
Q28* |
probably null |
Het |
Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
Taf15 |
G |
A |
11: 83,397,248 (GRCm39) |
D313N |
unknown |
Het |
Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
Tubb6 |
A |
G |
18: 67,526,063 (GRCm39) |
T72A |
possibly damaging |
Het |
Txndc16 |
A |
T |
14: 45,403,343 (GRCm39) |
V32E |
probably damaging |
Het |
Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly 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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGATGTGCTCTCACCCGTTC -3'
(R):5'- GCCACTGCTTCAATCAGCTC -3'
Sequencing Primer
(F):5'- CCGTTCTATTAAAACCCAGGTGTCAG -3'
(R):5'- GATACCCAAGAACTGACCTGTG -3'
|
Posted On |
2015-03-25 |