Incidental Mutation 'IGL02139:Sycp1'
ID |
281469 |
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 # |
IGL02139
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
102725815-102843416 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102772430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 626
(V626A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029448]
[ENSMUST00000196988]
|
AlphaFold |
Q62209 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029448
AA Change: V626A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000029448 Gene: ENSMUSG00000027855 AA Change: V626A
Domain | Start | End | E-Value | Type |
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196988
AA Change: V626A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000143651 Gene: ENSMUSG00000027855 AA Change: V626A
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
Cast |
T |
C |
13: 74,876,484 (GRCm39) |
D121G |
possibly damaging |
Het |
Clmn |
T |
C |
12: 104,747,358 (GRCm39) |
I730V |
probably benign |
Het |
Cryzl1 |
T |
C |
16: 91,509,139 (GRCm39) |
K54R |
possibly damaging |
Het |
Cyp3a16 |
A |
G |
5: 145,392,290 (GRCm39) |
S222P |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
Plpp1 |
A |
G |
13: 112,993,433 (GRCm39) |
T122A |
probably benign |
Het |
Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
Trmt44 |
T |
A |
5: 35,726,143 (GRCm39) |
K345* |
probably null |
Het |
Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
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 |
|
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 |
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 |
2015-04-16 |