Incidental Mutation 'IGL02630:Sycp1'
ID |
301278 |
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 # |
IGL02630
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
102725815-102843416 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 102786080 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 |
noncoding transcript
Transcript: ENSMUST00000196911
|
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,441 (GRCm39) |
V3575E |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,537,140 (GRCm39) |
|
probably benign |
Het |
Arhgap23 |
A |
G |
11: 97,345,123 (GRCm39) |
T631A |
probably benign |
Het |
Chka |
T |
A |
19: 3,942,112 (GRCm39) |
H355Q |
possibly damaging |
Het |
Ctsj |
C |
T |
13: 61,149,214 (GRCm39) |
A277T |
probably damaging |
Het |
Ddx49 |
T |
C |
8: 70,753,668 (GRCm39) |
D67G |
probably damaging |
Het |
Dennd4b |
T |
C |
3: 90,180,284 (GRCm39) |
S716P |
probably benign |
Het |
Enpp5 |
G |
T |
17: 44,393,766 (GRCm39) |
D321Y |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,205,253 (GRCm39) |
E17G |
probably benign |
Het |
Fam161b |
G |
A |
12: 84,400,688 (GRCm39) |
P428L |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,872,586 (GRCm39) |
L256S |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,525 (GRCm39) |
|
probably null |
Het |
Foxred2 |
C |
T |
15: 77,831,362 (GRCm39) |
V484I |
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
H3c1 |
C |
T |
13: 23,946,231 (GRCm39) |
V36M |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,795,456 (GRCm39) |
N271S |
possibly damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,496 (GRCm39) |
D58G |
possibly damaging |
Het |
Igkv4-80 |
A |
T |
6: 68,993,680 (GRCm39) |
Y70* |
probably null |
Het |
Ivns1abp |
G |
A |
1: 151,235,386 (GRCm39) |
R218H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,898,595 (GRCm39) |
|
probably benign |
Het |
Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
Lgals12 |
T |
C |
19: 7,578,607 (GRCm39) |
|
probably benign |
Het |
Lpar4 |
T |
A |
X: 105,974,817 (GRCm39) |
F334I |
probably benign |
Het |
Muc5b |
G |
A |
7: 141,416,968 (GRCm39) |
G3305S |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,555,291 (GRCm39) |
D864G |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,145,299 (GRCm39) |
E22G |
probably damaging |
Het |
Nt5c2 |
T |
A |
19: 46,912,749 (GRCm39) |
M69L |
probably benign |
Het |
Or52ab4 |
A |
C |
7: 102,987,636 (GRCm39) |
Y125S |
probably damaging |
Het |
Or8k22 |
T |
C |
2: 86,163,212 (GRCm39) |
I163V |
probably benign |
Het |
Pde12 |
A |
T |
14: 26,387,552 (GRCm39) |
H455Q |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,324,422 (GRCm39) |
H91R |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,491,671 (GRCm39) |
I179K |
possibly damaging |
Het |
Prl2c1 |
T |
C |
13: 28,041,480 (GRCm39) |
|
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,267,900 (GRCm39) |
E35K |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
Secisbp2 |
C |
A |
13: 51,832,942 (GRCm39) |
T608K |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,668,836 (GRCm39) |
Y532C |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,143,586 (GRCm39) |
V750A |
possibly damaging |
Het |
Spaca6 |
T |
A |
17: 18,051,351 (GRCm39) |
L9Q |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,043,712 (GRCm39) |
D131E |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,659,404 (GRCm39) |
D176E |
probably damaging |
Het |
Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,202,143 (GRCm39) |
V1590A |
possibly damaging |
Het |
Tyrp1 |
T |
C |
4: 80,758,994 (GRCm39) |
V289A |
possibly damaging |
Het |
Ube2dnl1 |
T |
A |
X: 113,815,483 (GRCm39) |
C119* |
probably null |
Het |
Vmn1r191 |
T |
A |
13: 22,363,431 (GRCm39) |
I108F |
possibly damaging |
Het |
Zfp710 |
T |
A |
7: 79,731,789 (GRCm39) |
I322N |
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 |
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 |
2015-04-16 |