Incidental Mutation 'R6929:Spats2l'
| ID |
539882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spats2l
|
| Ensembl Gene |
ENSMUSG00000038305 |
| Gene Name |
spermatogenesis associated, serine-rich 2-like |
| Synonyms |
2810022L02Rik, A230104H11Rik |
| MMRRC Submission |
045007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R6929 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
57813321-57987553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57918695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 43
(N43I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131125
(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 damaging
Transcript: ENSMUST00000164302
AA Change: N23I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: N23I
| 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: N43I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: N43I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
388 |
1.8e-130 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167971
AA Change: N43I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305
AA Change: N43I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
130 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169772
AA Change: N23I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: N23I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170139
AA Change: N23I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: N23I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171699
AA Change: N43I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: N43I
| 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: N43I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
AA Change: N43I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
244 |
5e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172287
AA Change: N43I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131125
Gene: ENSMUSG00000038305
AA Change: N43I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
96 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
92% (35/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,896,275 (GRCm39) |
R1223* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,150,852 (GRCm39) |
L1127* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,433,384 (GRCm39) |
V727D |
possibly damaging |
Het |
| Ankub1 |
A |
T |
3: 57,572,854 (GRCm39) |
C289* |
probably null |
Het |
| C2 |
T |
A |
17: 35,083,323 (GRCm39) |
I242F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,100,826 (GRCm39) |
L653P |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,522,022 (GRCm39) |
V1696A |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,358 (GRCm39) |
I1366T |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,769,573 (GRCm39) |
L2553P |
probably damaging |
Het |
| Cited4 |
C |
A |
4: 120,524,244 (GRCm39) |
T82K |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,021,756 (GRCm39) |
M3470K |
probably damaging |
Het |
| Exosc3 |
G |
T |
4: 45,320,482 (GRCm39) |
P37Q |
probably damaging |
Het |
| Fam120b |
C |
A |
17: 15,643,290 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,668,388 (GRCm39) |
I527T |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,065,579 (GRCm39) |
L459P |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 28,014,462 (GRCm39) |
D655G |
unknown |
Het |
| Ifi203 |
A |
G |
1: 173,756,340 (GRCm39) |
|
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,190,766 (GRCm39) |
L93* |
probably null |
Het |
| Kdr |
A |
G |
5: 76,138,764 (GRCm39) |
V22A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,601,179 (GRCm39) |
Q706* |
probably null |
Het |
| Lrrc9 |
A |
T |
12: 72,497,546 (GRCm39) |
K121N |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,917,909 (GRCm39) |
F3323S |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,253 (GRCm39) |
Y287H |
probably damaging |
Het |
| Nlrp4e |
A |
C |
7: 23,036,156 (GRCm39) |
|
probably null |
Het |
| Or52z12 |
A |
T |
7: 103,233,651 (GRCm39) |
I141F |
probably damaging |
Het |
| Or8b42 |
A |
G |
9: 38,342,444 (GRCm39) |
I289V |
probably benign |
Het |
| Pear1 |
T |
A |
3: 87,666,872 (GRCm39) |
K38* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,903,502 (GRCm39) |
R585Q |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,034,875 (GRCm39) |
V771A |
possibly damaging |
Het |
| Rnd3 |
G |
T |
2: 51,027,187 (GRCm39) |
D103E |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Tmem202 |
C |
A |
9: 59,426,504 (GRCm39) |
G221C |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,579 (GRCm39) |
D110G |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,903,081 (GRCm39) |
V1132D |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,917,440 (GRCm39) |
M357I |
probably benign |
Het |
| Zfp663 |
G |
C |
2: 165,195,178 (GRCm39) |
P347R |
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 |
|
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 |
|
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 |
|
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'- ACTTCTCTGAAAGGCCTGGAG -3'
(R):5'- GTCCATGTTCTTTTGAAGTCCG -3'
Sequencing Primer
(F):5'- CTCTGAAAGGCCTGGAGTATGTTTC -3'
(R):5'- GTCCTTGAACTCACAGAATTCGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation