Incidental Mutation 'R2096:Spats2l'
| ID |
232080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spats2l
|
| Ensembl Gene |
ENSMUSG00000038305 |
| Gene Name |
spermatogenesis associated, serine-rich 2-like |
| Synonyms |
2810022L02Rik, A230104H11Rik |
| MMRRC Submission |
040100-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R2096 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
57813321-57987553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57985458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 504
(S504P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163239]
[ENSMUST00000164302]
[ENSMUST00000167085]
[ENSMUST00000169772]
[ENSMUST00000170139]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163239
AA Change: S397P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305
AA Change: S397P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
1 |
261 |
9.7e-124 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164302
AA Change: S435P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: S435P
| 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
AA Change: S525P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: S525P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
79 |
388 |
1.8e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169772
AA Change: S504P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: S504P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170139
AA Change: S504P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: S504P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
59 |
368 |
5.6e-139 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,709,195 (GRCm39) |
S120P |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,743 (GRCm39) |
Y185* |
probably null |
Het |
| Atg101 |
T |
A |
15: 101,188,382 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Btf3 |
T |
A |
13: 98,449,659 (GRCm39) |
Q109L |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,071,844 (GRCm39) |
|
probably null |
Het |
| Cd209f |
A |
G |
8: 4,155,537 (GRCm39) |
V17A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,656 (GRCm39) |
V2208A |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,828,713 (GRCm39) |
C182R |
probably damaging |
Het |
| Ctsl |
A |
G |
13: 64,516,840 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
G |
T |
5: 145,725,215 (GRCm39) |
Q329K |
probably damaging |
Het |
| Dcpp1 |
A |
T |
17: 24,099,971 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
G |
8: 110,280,891 (GRCm39) |
V831A |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,791,858 (GRCm39) |
M22T |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,346,742 (GRCm39) |
E2615K |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,713 (GRCm39) |
|
probably null |
Het |
| Gm12888 |
T |
G |
4: 121,176,655 (GRCm39) |
I49L |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,936 (GRCm39) |
S326Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,815,252 (GRCm39) |
M194K |
probably damaging |
Het |
| Mael |
G |
T |
1: 166,053,244 (GRCm39) |
Q254K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,361,322 (GRCm39) |
D461G |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,281,825 (GRCm39) |
N819S |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,871 (GRCm39) |
N390Y |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,434 (GRCm39) |
I77T |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,738 (GRCm39) |
V250I |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,485,987 (GRCm39) |
D1870E |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,985,589 (GRCm39) |
K64* |
probably null |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ppa2 |
A |
G |
3: 133,032,445 (GRCm39) |
T97A |
probably damaging |
Het |
| Psd |
G |
A |
19: 46,313,088 (GRCm39) |
|
probably null |
Het |
| Psg23 |
T |
A |
7: 18,348,668 (GRCm39) |
E46D |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab11b |
A |
G |
17: 33,967,976 (GRCm39) |
Y74H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,383 (GRCm39) |
S194R |
probably benign |
Het |
| Sema4d |
A |
T |
13: 51,864,037 (GRCm39) |
I414N |
probably damaging |
Het |
| Serpinb1a |
A |
T |
13: 33,031,437 (GRCm39) |
D120E |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,524,861 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Sspo |
G |
T |
6: 48,438,608 (GRCm39) |
V1559L |
probably benign |
Het |
| Tas2r118 |
T |
G |
6: 23,969,912 (GRCm39) |
I50L |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,743,788 (GRCm39) |
Q573* |
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,667,835 (GRCm39) |
S786P |
possibly damaging |
Het |
| Tlnrd1 |
G |
A |
7: 83,532,062 (GRCm39) |
T123I |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,033,714 (GRCm39) |
L555H |
probably damaging |
Het |
| Tmprss12 |
T |
A |
15: 100,183,117 (GRCm39) |
M153K |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,725,268 (GRCm39) |
G410S |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,116 (GRCm39) |
M853K |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,655,929 (GRCm39) |
I247T |
possibly damaging |
Het |
| Zcchc7 |
C |
A |
4: 44,931,059 (GRCm39) |
P404T |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGGCTAAATGGTCCAGC -3'
(R):5'- CTCTCTTTTGGCAGCGATTG -3'
Sequencing Primer
(F):5'- TGGTCCAGCCAAGTCACAG -3'
(R):5'- CGATTGGGTCAGCACCTTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation