Incidental Mutation 'IGL01066:Sycp1'
| ID |
50693 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sycp1
|
| Ensembl Gene |
ENSMUSG00000027855 |
| Gene Name |
synaptonemal complex protein 1 |
| Synonyms |
SCP1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
IGL01066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
102725815-102843416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102827950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 266
(S266P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029448]
[ENSMUST00000196988]
[ENSMUST00000199930]
|
| AlphaFold |
Q62209 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029448
AA Change: S266P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: S266P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196988
AA Change: S266P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: S266P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199930
|
| SMART Domains |
Protein: ENSMUSP00000143493
Gene: ENSMUSG00000027855
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCP-1
|
28 |
95 |
2e-33 |
PFAM |
|
Pfam:SCP-1
|
93 |
182 |
9.8e-53 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2300003K06Rik |
T |
A |
11: 99,728,454 (GRCm39) |
R130* |
probably null |
Het |
| Abca12 |
T |
A |
1: 71,392,889 (GRCm39) |
R117W |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,261,800 (GRCm39) |
S497P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,473,874 (GRCm39) |
S710T |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,014,551 (GRCm39) |
N471K |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,491,790 (GRCm39) |
M879K |
probably null |
Het |
| Apoe |
A |
G |
7: 19,430,525 (GRCm39) |
L239P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,891,942 (GRCm39) |
Y1274H |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,632,890 (GRCm39) |
T80I |
possibly damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,524,540 (GRCm39) |
T271A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,455,223 (GRCm39) |
N1088I |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,470,481 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
| Dnai7 |
C |
T |
6: 145,121,948 (GRCm39) |
G624S |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,392,192 (GRCm39) |
|
probably benign |
Het |
| Enc1 |
A |
G |
13: 97,381,822 (GRCm39) |
I111V |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,816,065 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,413 (GRCm39) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,503,252 (GRCm39) |
L36* |
probably null |
Het |
| Fxn |
A |
T |
19: 24,244,662 (GRCm39) |
|
probably benign |
Het |
| Gm10152 |
C |
T |
7: 144,316,993 (GRCm39) |
P16L |
unknown |
Het |
| Hivep2 |
T |
C |
10: 14,024,768 (GRCm39) |
V2194A |
possibly damaging |
Het |
| Hook3 |
T |
G |
8: 26,538,326 (GRCm39) |
E525A |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,927,401 (GRCm39) |
|
probably null |
Het |
| Ifngr1 |
C |
T |
10: 19,484,946 (GRCm39) |
T315I |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,235,203 (GRCm39) |
|
probably null |
Het |
| Irag2 |
T |
C |
6: 145,106,681 (GRCm39) |
S222P |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,336,266 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,050,321 (GRCm39) |
C311S |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,688,141 (GRCm39) |
M714K |
possibly damaging |
Het |
| Lypd5 |
C |
T |
7: 24,052,910 (GRCm39) |
T189I |
probably benign |
Het |
| Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
| Met |
T |
C |
6: 17,535,104 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
C |
A |
9: 124,349,526 (GRCm38) |
|
noncoding transcript |
Het |
| Nlrp6 |
T |
A |
7: 140,501,709 (GRCm39) |
V62D |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,172,999 (GRCm39) |
|
probably null |
Het |
| Or2y1f |
T |
C |
11: 49,184,457 (GRCm39) |
I103T |
possibly damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,602 (GRCm39) |
R259G |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,221,064 (GRCm39) |
F15S |
probably damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,038,795 (GRCm39) |
R2020Q |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,402,718 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,166,637 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
T |
G |
15: 85,700,360 (GRCm39) |
I1859L |
probably benign |
Het |
| Plcg1 |
A |
T |
2: 160,596,318 (GRCm39) |
H638L |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,961,072 (GRCm39) |
S677L |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,382,096 (GRCm39) |
L533P |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,782,370 (GRCm39) |
W171R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,457,024 (GRCm39) |
|
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,126,770 (GRCm39) |
E344G |
probably damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,892 (GRCm39) |
I381M |
probably benign |
Het |
| Tmprss6 |
T |
C |
15: 78,326,634 (GRCm39) |
D1G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,582,770 (GRCm39) |
T22708A |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,199,710 (GRCm39) |
|
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,372,234 (GRCm39) |
|
probably null |
Het |
| Vwc2l |
T |
C |
1: 70,768,070 (GRCm39) |
F45L |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,939,195 (GRCm39) |
T154A |
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
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 |
|
|
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 |
|
R8289:Sycp1
|
UTSW |
3 |
102,748,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation