Incidental Mutation 'R4643:Sycp2l'
| ID |
351744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sycp2l
|
| Ensembl Gene |
ENSMUSG00000038651 |
| Gene Name |
synaptonemal complex protein 2-like |
| Synonyms |
Gm40956, LOC218175, EG621792 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4643 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
41267895-41327827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41296941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 341
(M341V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124093]
|
| AlphaFold |
A0A0M3U1B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124093
AA Change: M341V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Female mice homozygous for a knock-out allele exhibit early reproductive senescence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
| C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
| Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
| Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
| Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
| Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
| Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
| Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
| Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
| Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
| Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
| Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
| Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
| Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
| Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
| Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
| Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
probably benign |
Het |
|
| Other mutations in Sycp2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4531001:Sycp2l
|
UTSW |
13 |
41,300,148 (GRCm39) |
missense |
probably null |
0.00 |
|
R0016:Sycp2l
|
UTSW |
13 |
41,310,976 (GRCm39) |
intron |
probably benign |
|
|
R0024:Sycp2l
|
UTSW |
13 |
41,295,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Sycp2l
|
UTSW |
13 |
41,295,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0099:Sycp2l
|
UTSW |
13 |
41,283,001 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Sycp2l
|
UTSW |
13 |
41,304,006 (GRCm39) |
splice site |
probably null |
|
|
R0582:Sycp2l
|
UTSW |
13 |
41,291,431 (GRCm39) |
splice site |
probably benign |
|
|
R0605:Sycp2l
|
UTSW |
13 |
41,296,942 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1311:Sycp2l
|
UTSW |
13 |
41,288,661 (GRCm39) |
nonsense |
probably null |
|
|
R1999:Sycp2l
|
UTSW |
13 |
41,271,780 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3115:Sycp2l
|
UTSW |
13 |
41,302,274 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3977:Sycp2l
|
UTSW |
13 |
41,295,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3979:Sycp2l
|
UTSW |
13 |
41,295,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5027:Sycp2l
|
UTSW |
13 |
41,283,247 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5037:Sycp2l
|
UTSW |
13 |
41,283,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5780:Sycp2l
|
UTSW |
13 |
41,282,976 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6216:Sycp2l
|
UTSW |
13 |
41,295,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Sycp2l
|
UTSW |
13 |
41,310,973 (GRCm39) |
missense |
unknown |
|
|
R7179:Sycp2l
|
UTSW |
13 |
41,283,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Sycp2l
|
UTSW |
13 |
41,300,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7470:Sycp2l
|
UTSW |
13 |
41,316,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7593:Sycp2l
|
UTSW |
13 |
41,326,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Sycp2l
|
UTSW |
13 |
41,326,146 (GRCm39) |
missense |
not run |
|
|
R8218:Sycp2l
|
UTSW |
13 |
41,271,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Sycp2l
|
UTSW |
13 |
41,283,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Sycp2l
|
UTSW |
13 |
41,306,952 (GRCm39) |
missense |
|
|
|
R8504:Sycp2l
|
UTSW |
13 |
41,291,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Sycp2l
|
UTSW |
13 |
41,277,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9096:Sycp2l
|
UTSW |
13 |
41,300,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9097:Sycp2l
|
UTSW |
13 |
41,300,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9653:Sycp2l
|
UTSW |
13 |
41,295,381 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9689:Sycp2l
|
UTSW |
13 |
41,295,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9713:Sycp2l
|
UTSW |
13 |
41,326,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9729:Sycp2l
|
UTSW |
13 |
41,326,132 (GRCm39) |
missense |
|
|
|
R9763:Sycp2l
|
UTSW |
13 |
41,306,232 (GRCm39) |
missense |
|
|
|
Z1177:Sycp2l
|
UTSW |
13 |
41,300,058 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Sycp2l
|
UTSW |
13 |
41,267,840 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCCTCTGAGTCATGTATTTG -3'
(R):5'- CTTCTGCTTGACCAAAGGATAC -3'
Sequencing Primer
(F):5'- CTCTGAGTCATGTATTTGTGTGTATG -3'
(R):5'- GCATGGTAGCACAGGCCTTTAATC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation