Incidental Mutation 'R0282:Sycp1'
| ID |
37600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sycp1
|
| Ensembl Gene |
ENSMUSG00000027855 |
| Gene Name |
synaptonemal complex protein 1 |
| Synonyms |
SCP1 |
| MMRRC Submission |
038504-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
R0282 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102725815-102843416 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 102823111 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Afap1l2 |
A |
G |
19: 56,904,653 (GRCm39) |
S549P |
possibly damaging |
Het |
| Alcam |
A |
T |
16: 52,116,104 (GRCm39) |
C157S |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
G |
A |
8: 71,933,258 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,851 (GRCm39) |
V56A |
probably benign |
Het |
| Aurkc |
T |
A |
7: 7,005,427 (GRCm39) |
|
probably null |
Het |
| Bnip3 |
T |
C |
7: 138,499,759 (GRCm39) |
D76G |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,407,022 (GRCm39) |
E246G |
possibly damaging |
Het |
| Ccdc157 |
G |
T |
11: 4,096,708 (GRCm39) |
A449D |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,810,483 (GRCm39) |
V26D |
probably benign |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crk |
G |
T |
11: 75,594,195 (GRCm39) |
G261C |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,408,200 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
G |
A |
18: 35,377,175 (GRCm39) |
V572I |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,589 (GRCm39) |
Y1669C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,955,130 (GRCm39) |
F2053S |
probably damaging |
Het |
| Dner |
G |
A |
1: 84,383,686 (GRCm39) |
T566M |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,423,101 (GRCm39) |
|
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,245,751 (GRCm39) |
V223A |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,234,223 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
G |
A |
14: 103,332,661 (GRCm39) |
H106Y |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,012,200 (GRCm39) |
V106A |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,578,972 (GRCm39) |
R654* |
probably null |
Het |
| Gm7589 |
G |
A |
9: 59,053,288 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi202b |
A |
T |
1: 173,804,926 (GRCm39) |
S9T |
probably benign |
Het |
| Ipmk |
G |
C |
10: 71,208,661 (GRCm39) |
S149T |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,345 (GRCm39) |
E24G |
probably benign |
Het |
| Itga2b |
A |
C |
11: 102,351,672 (GRCm39) |
V551G |
probably damaging |
Het |
| Itgad |
C |
T |
7: 127,789,150 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
A |
17: 53,032,879 (GRCm39) |
F55L |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,110,760 (GRCm39) |
|
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,573 (GRCm39) |
Y147C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,131,058 (GRCm39) |
F298L |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,662,617 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,673,238 (GRCm39) |
S69P |
probably damaging |
Het |
| Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,884 (GRCm39) |
V257A |
possibly damaging |
Het |
| Mybpc3 |
G |
C |
2: 90,954,369 (GRCm39) |
|
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,314 (GRCm39) |
V361A |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,793,253 (GRCm39) |
T1277A |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,141,797 (GRCm39) |
T416A |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,647,720 (GRCm39) |
V203A |
possibly damaging |
Het |
| Or2k2 |
A |
G |
4: 58,785,344 (GRCm39) |
I126T |
probably damaging |
Het |
| Or4c104 |
G |
A |
2: 88,586,800 (GRCm39) |
T73I |
probably damaging |
Het |
| Or56b1b |
T |
A |
7: 108,164,684 (GRCm39) |
Q106L |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,926,917 (GRCm39) |
T1222I |
possibly damaging |
Het |
| P4ha1 |
C |
T |
10: 59,172,970 (GRCm39) |
T23M |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,132,422 (GRCm39) |
I537F |
probably benign |
Het |
| Plekhn1 |
A |
G |
4: 156,312,780 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
C |
A |
12: 30,034,439 (GRCm39) |
S8* |
probably null |
Het |
| Rnf135 |
A |
T |
11: 80,084,784 (GRCm39) |
I186F |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,027,887 (GRCm39) |
|
probably benign |
Het |
| Rph3a |
C |
A |
5: 121,101,973 (GRCm39) |
G88* |
probably null |
Het |
| Sarm1 |
G |
A |
11: 78,365,806 (GRCm39) |
Q740* |
probably null |
Het |
| Setd1b |
C |
A |
5: 123,299,080 (GRCm39) |
|
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,837,181 (GRCm39) |
V85E |
probably damaging |
Het |
| Swi5 |
A |
G |
2: 32,170,766 (GRCm39) |
Y54H |
probably damaging |
Het |
| Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tmem67 |
G |
A |
4: 12,087,930 (GRCm39) |
T72M |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,737 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 86,042,827 (GRCm39) |
Y1128H |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,908,680 (GRCm39) |
|
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,668 (GRCm39) |
M152K |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,343,724 (GRCm39) |
D1988E |
probably damaging |
Het |
| Zfp420 |
A |
G |
7: 29,575,105 (GRCm39) |
I442V |
probably benign |
Het |
| Zyx |
A |
G |
6: 42,332,939 (GRCm39) |
E363G |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTTAGCCCACACAGTTCTCTC -3'
(R):5'- GCCCTTGACTCCTTGACAGCAATG -3'
Sequencing Primer
(F):5'- CCACTCTTAGAACTGTTAATGACTC -3'
(R):5'- GACTCCTTGACAGCAATGTACAAATG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation