Incidental Mutation 'R9239:Spats2l'
| ID |
700616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spats2l
|
| Ensembl Gene |
ENSMUSG00000038305 |
| Gene Name |
spermatogenesis associated, serine-rich 2-like |
| Synonyms |
2810022L02Rik, A230104H11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R9239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
57813321-57987553 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 57871257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163239]
[ENSMUST00000164302]
[ENSMUST00000167085]
[ENSMUST00000167971]
[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
|
| 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 |
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: ENSMUST00000167971
|
| SMART Domains |
Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
130 |
4.2e-13 |
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 |
|
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,608 (GRCm39) |
|
probably null |
Het |
| Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,864 (GRCm39) |
N665I |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,734,812 (GRCm39) |
T59S |
probably benign |
Het |
| B3gnt8 |
ACCCC |
ACCC |
7: 25,327,676 (GRCm39) |
|
probably null |
Het |
| Cabs1 |
G |
A |
5: 88,127,385 (GRCm39) |
R12Q |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,425,830 (GRCm39) |
V845A |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,059,572 (GRCm39) |
E127G |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,750 (GRCm39) |
V941E |
probably damaging |
Het |
| Fbxo11 |
G |
T |
17: 88,316,522 (GRCm39) |
H284N |
|
Het |
| Fubp1 |
A |
G |
3: 151,923,486 (GRCm39) |
E98G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,626,637 (GRCm39) |
I1358T |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,649,825 (GRCm39) |
N156S |
possibly damaging |
Het |
| Gm3739 |
T |
C |
14: 18,505,221 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Itgb4 |
T |
C |
11: 115,898,130 (GRCm39) |
V1644A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,580,023 (GRCm39) |
D254G |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,197,020 (GRCm39) |
R6S |
probably benign |
Het |
| Klhl40 |
A |
T |
9: 121,607,637 (GRCm39) |
T266S |
probably benign |
Het |
| Lratd1 |
A |
G |
12: 14,200,185 (GRCm39) |
W181R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,995,856 (GRCm39) |
D289G |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,353,954 (GRCm39) |
D851V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,346 (GRCm39) |
V269A |
probably benign |
Het |
| Or52n4 |
G |
T |
7: 104,293,746 (GRCm39) |
H278N |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,439,454 (GRCm39) |
T99A |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,770,649 (GRCm39) |
I1042M |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,774,765 (GRCm39) |
I106T |
probably benign |
Het |
| Ppcs |
C |
T |
4: 119,276,235 (GRCm39) |
V290M |
possibly damaging |
Het |
| Rnasel |
T |
A |
1: 153,630,097 (GRCm39) |
N204K |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,402,935 (GRCm39) |
Y336H |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,184,710 (GRCm39) |
R285G |
possibly damaging |
Het |
| Slc25a2 |
A |
T |
18: 37,771,169 (GRCm39) |
M120K |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spopfm1 |
T |
A |
3: 94,173,871 (GRCm39) |
V289E |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,606,015 (GRCm39) |
L431H |
probably damaging |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,087,453 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,165,078 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,237,453 (GRCm39) |
F599L |
probably benign |
Het |
| Vcl |
A |
G |
14: 21,072,092 (GRCm39) |
D819G |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r1 |
G |
T |
3: 64,011,959 (GRCm39) |
V607L |
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 |
|
|
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 |
|
|
X0054:Spats2l
|
UTSW |
1 |
57,982,402 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTGTGATTCTGAGCTGGCC -3'
(R):5'- GCTACTGCCCTTAGCCTATGAC -3'
Sequencing Primer
(F):5'- CTGAGCTGGCCATTTACTTGATGAAC -3'
(R):5'- GCCTCTCTCCAACCTTAATGACAATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation