Incidental Mutation 'R8289:Sycp1'
| ID |
638558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sycp1
|
| Ensembl Gene |
ENSMUSG00000027855 |
| Gene Name |
synaptonemal complex protein 1 |
| Synonyms |
SCP1 |
| MMRRC Submission |
067711-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R8289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102725815-102843416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102748353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 813
(I813T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029448]
[ENSMUST00000196988]
|
| AlphaFold |
Q62209 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029448
AA Change: I813T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: I813T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196988
AA Change: I813T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: I813T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display male and female infertility, azoospermia, small ovary, small testis and seminiferous tubules, absent ovarian follicles, and failure of synapse formation during meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
C |
11: 109,927,515 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
C |
A |
5: 89,923,282 (GRCm39) |
D175Y |
possibly damaging |
Het |
| Adra1b |
G |
A |
11: 43,726,315 (GRCm39) |
P201S |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,742,242 (GRCm39) |
V610A |
possibly damaging |
Het |
| Ap5s1 |
A |
C |
2: 131,054,379 (GRCm39) |
H62P |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,963,444 (GRCm39) |
S593P |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,028,692 (GRCm39) |
V289A |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,893 (GRCm39) |
E196G |
probably damaging |
Het |
| Atp1b3 |
G |
A |
9: 96,215,602 (GRCm39) |
S271L |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,924,931 (GRCm39) |
R339G |
probably damaging |
Het |
| Calb2 |
T |
C |
8: 110,894,690 (GRCm39) |
H27R |
possibly damaging |
Het |
| Camkk2 |
A |
C |
5: 122,894,689 (GRCm39) |
L201R |
probably damaging |
Het |
| Car15 |
A |
G |
16: 17,654,580 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
A |
G |
6: 120,735,077 (GRCm39) |
N771S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,108,716 (GRCm39) |
I1896F |
probably damaging |
Het |
| Cubn |
C |
T |
2: 13,491,613 (GRCm39) |
V145I |
probably benign |
Het |
| Cuedc1 |
G |
A |
11: 88,073,381 (GRCm39) |
S182N |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Cyp7a1 |
G |
A |
4: 6,268,295 (GRCm39) |
P477S |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,885,718 (GRCm39) |
W16R |
|
Het |
| Dhx8 |
T |
A |
11: 101,631,571 (GRCm39) |
M388K |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,543,780 (GRCm39) |
Y2453* |
probably null |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| F830016B08Rik |
G |
A |
18: 60,433,360 (GRCm39) |
E148K |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,404,424 (GRCm39) |
T434A |
possibly damaging |
Het |
| Ide |
A |
G |
19: 37,290,952 (GRCm39) |
L368P |
|
Het |
| Ide |
G |
C |
19: 37,290,953 (GRCm39) |
L368V |
probably null |
Het |
| Ifi206 |
T |
C |
1: 173,308,032 (GRCm39) |
I655V |
|
Het |
| Insrr |
A |
G |
3: 87,721,501 (GRCm39) |
M1136V |
probably damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,707 (GRCm39) |
E78G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,755,267 (GRCm39) |
L90H |
probably damaging |
Het |
| Magel2 |
A |
C |
7: 62,028,875 (GRCm39) |
Q593P |
unknown |
Het |
| Mrgpra3 |
G |
A |
7: 47,239,468 (GRCm39) |
H153Y |
possibly damaging |
Het |
| Msln |
A |
G |
17: 25,967,880 (GRCm39) |
V595A |
possibly damaging |
Het |
| Mvb12a |
T |
C |
8: 71,995,703 (GRCm39) |
|
probably null |
Het |
| Myo7a |
T |
G |
7: 97,726,376 (GRCm39) |
M966L |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 164,854,982 (GRCm39) |
D47N |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,800,206 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
T |
A |
11: 73,667,839 (GRCm39) |
M105L |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,805,589 (GRCm39) |
T48A |
probably benign |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,108,125 (GRCm39) |
H287Q |
unknown |
Het |
| Or8b37 |
T |
A |
9: 37,959,000 (GRCm39) |
C161S |
probably benign |
Het |
| Osbpl7 |
T |
A |
11: 96,947,405 (GRCm39) |
S480T |
probably benign |
Het |
| Podnl1 |
T |
C |
8: 84,858,552 (GRCm39) |
L484P |
|
Het |
| Polr3gl |
G |
T |
3: 96,489,228 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
G |
T |
15: 5,206,563 (GRCm39) |
V438L |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,373 (GRCm39) |
H1959L |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,589,685 (GRCm39) |
L172* |
probably null |
Het |
| Samsn1 |
C |
A |
16: 75,685,684 (GRCm39) |
G25W |
probably damaging |
Het |
| Sbno1 |
T |
G |
5: 124,542,068 (GRCm39) |
L362F |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,490,252 (GRCm39) |
Y49* |
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,044 (GRCm39) |
I288V |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,403,344 (GRCm39) |
M804V |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,324,052 (GRCm39) |
S66T |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,080,445 (GRCm39) |
D995G |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,961,740 (GRCm39) |
|
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,722 (GRCm39) |
S332T |
possibly damaging |
Het |
| Treml4 |
A |
C |
17: 48,581,456 (GRCm39) |
I244L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,172,524 (GRCm39) |
C1117* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,058,020 (GRCm39) |
I526V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,820,218 (GRCm39) |
W500R |
probably damaging |
Het |
| Zfr |
G |
T |
15: 12,135,357 (GRCm39) |
V49F |
noncoding transcript |
Het |
|
| Other mutations in Sycp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Sycp1
|
APN |
3 |
102,748,278 (GRCm39) |
missense |
probably benign |
|
|
IGL00833:Sycp1
|
APN |
3 |
102,783,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01066:Sycp1
|
APN |
3 |
102,827,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Sycp1
|
APN |
3 |
102,823,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02139:Sycp1
|
APN |
3 |
102,772,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02270:Sycp1
|
APN |
3 |
102,803,259 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02347:Sycp1
|
APN |
3 |
102,800,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02630:Sycp1
|
APN |
3 |
102,786,080 (GRCm39) |
splice site |
probably benign |
|
|
IGL02668:Sycp1
|
APN |
3 |
102,727,847 (GRCm39) |
splice site |
probably benign |
|
|
IGL02928:Sycp1
|
APN |
3 |
102,726,134 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4458001:Sycp1
|
UTSW |
3 |
102,842,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0027:Sycp1
|
UTSW |
3 |
102,803,226 (GRCm39) |
missense |
probably benign |
|
|
R0282:Sycp1
|
UTSW |
3 |
102,823,111 (GRCm39) |
splice site |
probably benign |
|
|
R0462:Sycp1
|
UTSW |
3 |
102,726,422 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0609:Sycp1
|
UTSW |
3 |
102,806,165 (GRCm39) |
splice site |
probably null |
|
|
R0837:Sycp1
|
UTSW |
3 |
102,822,561 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1301:Sycp1
|
UTSW |
3 |
102,827,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2408:Sycp1
|
UTSW |
3 |
102,832,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2449:Sycp1
|
UTSW |
3 |
102,832,522 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2516:Sycp1
|
UTSW |
3 |
102,752,382 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2880:Sycp1
|
UTSW |
3 |
102,726,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3410:Sycp1
|
UTSW |
3 |
102,748,357 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3427:Sycp1
|
UTSW |
3 |
102,783,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4538:Sycp1
|
UTSW |
3 |
102,748,278 (GRCm39) |
missense |
probably benign |
|
|
R4679:Sycp1
|
UTSW |
3 |
102,829,778 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4707:Sycp1
|
UTSW |
3 |
102,760,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4785:Sycp1
|
UTSW |
3 |
102,760,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5017:Sycp1
|
UTSW |
3 |
102,803,303 (GRCm39) |
splice site |
probably null |
|
|
R5036:Sycp1
|
UTSW |
3 |
102,727,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Sycp1
|
UTSW |
3 |
102,752,370 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5070:Sycp1
|
UTSW |
3 |
102,827,881 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5079:Sycp1
|
UTSW |
3 |
102,786,116 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5289:Sycp1
|
UTSW |
3 |
102,841,569 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5393:Sycp1
|
UTSW |
3 |
102,748,363 (GRCm39) |
splice site |
probably null |
|
|
R5477:Sycp1
|
UTSW |
3 |
102,726,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Sycp1
|
UTSW |
3 |
102,726,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5814:Sycp1
|
UTSW |
3 |
102,803,213 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6291:Sycp1
|
UTSW |
3 |
102,816,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Sycp1
|
UTSW |
3 |
102,832,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Sycp1
|
UTSW |
3 |
102,806,203 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6870:Sycp1
|
UTSW |
3 |
102,842,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6873:Sycp1
|
UTSW |
3 |
102,748,296 (GRCm39) |
missense |
probably benign |
|
|
R7037:Sycp1
|
UTSW |
3 |
102,806,250 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7210:Sycp1
|
UTSW |
3 |
102,760,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Sycp1
|
UTSW |
3 |
102,832,543 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7604:Sycp1
|
UTSW |
3 |
102,820,749 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7733:Sycp1
|
UTSW |
3 |
102,803,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7858:Sycp1
|
UTSW |
3 |
102,806,273 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7909:Sycp1
|
UTSW |
3 |
102,727,942 (GRCm39) |
nonsense |
probably null |
|
|
R8109:Sycp1
|
UTSW |
3 |
102,758,918 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8141:Sycp1
|
UTSW |
3 |
102,842,885 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8359:Sycp1
|
UTSW |
3 |
102,727,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8844:Sycp1
|
UTSW |
3 |
102,772,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Sycp1
|
UTSW |
3 |
102,783,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9149:Sycp1
|
UTSW |
3 |
102,758,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGCTGAAAGGTCTTTGC -3'
(R):5'- CTCACAATTGGAGCAGATGCC -3'
Sequencing Primer
(F):5'- TGCCCGCAGATTATCTCT -3'
(R):5'- GAGCAGATGCCCATTTTTCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation