Incidental Mutation 'IGL02928:Sycp1'
| ID |
363996 |
| 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 essential
(E-score: 0.539)
|
| Stock # |
IGL02928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
102725815-102843416 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 102726134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029448]
[ENSMUST00000196988]
|
| AlphaFold |
Q62209 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029448
|
| SMART Domains |
Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196988
|
| SMART Domains |
Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198651
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,980,327 (GRCm39) |
Y92C |
probably damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,802 (GRCm39) |
L407F |
possibly damaging |
Het |
| Abcc3 |
G |
T |
11: 94,252,132 (GRCm39) |
T817K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 77,977,539 (GRCm39) |
|
probably benign |
Het |
| Arhgef16 |
G |
T |
4: 154,367,350 (GRCm39) |
Q352K |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,065,716 (GRCm39) |
I68V |
probably benign |
Het |
| Col5a2 |
G |
A |
1: 45,424,180 (GRCm39) |
A1082V |
probably benign |
Het |
| Col6a1 |
A |
T |
10: 76,545,500 (GRCm39) |
Y991N |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,798 (GRCm39) |
I1021T |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,303,168 (GRCm39) |
|
probably null |
Het |
| Ern1 |
A |
G |
11: 106,296,705 (GRCm39) |
|
probably benign |
Het |
| Fgf18 |
A |
T |
11: 33,074,674 (GRCm39) |
I99N |
possibly damaging |
Het |
| Glp1r |
A |
G |
17: 31,137,911 (GRCm39) |
D114G |
probably benign |
Het |
| Gm10553 |
A |
G |
1: 85,077,933 (GRCm39) |
K17E |
possibly damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
A |
C |
4: 155,637,863 (GRCm39) |
T196P |
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,412 (GRCm39) |
D35V |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,517,711 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
T |
13: 107,025,863 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,659,715 (GRCm39) |
Q307L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,242 (GRCm39) |
*464L |
probably null |
Het |
| Mrps7 |
C |
T |
11: 115,495,910 (GRCm39) |
Q113* |
probably null |
Het |
| Npat |
A |
C |
9: 53,478,138 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,854,605 (GRCm39) |
I852V |
probably damaging |
Het |
| Or10ak14 |
A |
G |
4: 118,611,697 (GRCm39) |
F15L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,506,273 (GRCm39) |
E232G |
probably benign |
Het |
| P2rx6 |
T |
A |
16: 17,382,901 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,548,346 (GRCm39) |
N466K |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,280,805 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,453,458 (GRCm39) |
V51A |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,642,923 (GRCm39) |
S175P |
possibly damaging |
Het |
| Rd3l |
T |
C |
12: 111,946,012 (GRCm39) |
S156G |
probably benign |
Het |
| Reck |
C |
T |
4: 43,912,078 (GRCm39) |
H196Y |
possibly damaging |
Het |
| Rft1 |
T |
A |
14: 30,385,072 (GRCm39) |
V165D |
possibly damaging |
Het |
| Rin2 |
A |
G |
2: 145,701,926 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
A |
G |
1: 74,168,241 (GRCm39) |
|
probably benign |
Het |
| Scfd2 |
G |
A |
5: 74,691,832 (GRCm39) |
T150M |
probably damaging |
Het |
| Sgca |
A |
G |
11: 94,863,129 (GRCm39) |
W75R |
probably damaging |
Het |
| Sirt7 |
A |
T |
11: 120,511,042 (GRCm39) |
D318E |
probably benign |
Het |
| Smr2l |
A |
T |
5: 88,424,976 (GRCm39) |
I14L |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,222,959 (GRCm39) |
A255T |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,691,736 (GRCm39) |
D485G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,917,997 (GRCm39) |
V1922A |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,369,674 (GRCm39) |
V365D |
probably damaging |
Het |
| Upk3b |
A |
G |
5: 136,067,995 (GRCm39) |
E62G |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,980,372 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,410 (GRCm39) |
F188S |
probably damaging |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation