Incidental Mutation 'R6378:Secisbp2l'
ID |
515102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
044528-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R6378 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125610245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 225
(S225P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053699]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053699
AA Change: S225P
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: S225P
Domain | Start | End | E-Value | Type |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L7Ae
|
700 |
802 |
7.6e-24 |
PFAM |
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
low complexity region
|
970 |
978 |
N/A |
INTRINSIC |
low complexity region
|
985 |
996 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0601 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
99% (80/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
A |
T |
15: 72,995,774 (GRCm39) |
D408E |
probably benign |
Het |
Agpat2 |
T |
C |
2: 26,486,147 (GRCm39) |
N178S |
probably benign |
Het |
Arsi |
T |
C |
18: 61,049,573 (GRCm39) |
F152S |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,734,367 (GRCm39) |
L1163Q |
probably benign |
Het |
Bpifb2 |
T |
A |
2: 153,733,072 (GRCm39) |
L385Q |
possibly damaging |
Het |
C330018D20Rik |
A |
G |
18: 57,095,579 (GRCm39) |
L2P |
probably damaging |
Het |
Cby3 |
A |
G |
11: 50,250,360 (GRCm39) |
T189A |
probably damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,921,561 (GRCm39) |
D567V |
possibly damaging |
Het |
Cdh5 |
T |
A |
8: 104,853,168 (GRCm39) |
|
probably null |
Het |
Cela1 |
C |
T |
15: 100,585,071 (GRCm39) |
V20I |
probably benign |
Het |
Cmpk2 |
G |
A |
12: 26,519,415 (GRCm39) |
G22E |
possibly damaging |
Het |
Ctcf |
T |
A |
8: 106,390,423 (GRCm39) |
V10E |
possibly damaging |
Het |
Dpp10 |
C |
A |
1: 123,339,468 (GRCm39) |
C353F |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,999,620 (GRCm39) |
S5546G |
possibly damaging |
Het |
Elp3 |
G |
T |
14: 65,830,420 (GRCm39) |
Y10* |
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,755,646 (GRCm39) |
W336R |
probably damaging |
Het |
Erich6 |
T |
C |
3: 58,529,780 (GRCm39) |
|
probably null |
Het |
Eya1 |
T |
C |
1: 14,373,027 (GRCm39) |
N31D |
possibly damaging |
Het |
Fam81a |
T |
A |
9: 70,017,628 (GRCm39) |
N106Y |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,639 (GRCm39) |
T487A |
possibly damaging |
Het |
Ganc |
T |
C |
2: 120,264,307 (GRCm39) |
M420T |
probably damaging |
Het |
Gimap7 |
A |
T |
6: 48,701,116 (GRCm39) |
E234V |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,570,146 (GRCm39) |
N400S |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,229,377 (GRCm39) |
S98G |
probably benign |
Het |
Hoxd10 |
T |
C |
2: 74,524,678 (GRCm39) |
I330T |
possibly damaging |
Het |
Ik |
T |
A |
18: 36,890,341 (GRCm39) |
I539N |
probably damaging |
Het |
Il17rb |
G |
A |
14: 29,722,320 (GRCm39) |
T237I |
probably damaging |
Het |
Ing2 |
T |
A |
8: 48,122,293 (GRCm39) |
Q85L |
probably benign |
Het |
Lrp4 |
C |
A |
2: 91,324,174 (GRCm39) |
N1208K |
probably benign |
Het |
Lvrn |
T |
A |
18: 47,028,024 (GRCm39) |
S888R |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,488 (GRCm39) |
V1126A |
probably damaging |
Het |
Mapkapk5 |
A |
G |
5: 121,677,233 (GRCm39) |
|
probably null |
Het |
Mis18bp1 |
T |
C |
12: 65,196,021 (GRCm39) |
D581G |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,599,320 (GRCm39) |
V3289A |
probably benign |
Het |
Myom2 |
T |
A |
8: 15,149,356 (GRCm39) |
I609N |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,433 (GRCm39) |
M1343K |
probably damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,486,207 (GRCm39) |
I302V |
probably damaging |
Het |
Neb |
T |
A |
2: 52,183,733 (GRCm39) |
K978N |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,820,831 (GRCm39) |
E878G |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,016 (GRCm39) |
I928N |
probably damaging |
Het |
Nxf1 |
T |
A |
19: 8,741,910 (GRCm39) |
D145E |
probably benign |
Het |
Obox3 |
T |
A |
7: 15,360,027 (GRCm39) |
H214L |
probably benign |
Het |
Obscn |
T |
C |
11: 58,964,572 (GRCm39) |
E3199G |
probably damaging |
Het |
Ogfod3 |
T |
C |
11: 121,093,761 (GRCm39) |
E83G |
probably benign |
Het |
Or11a4 |
T |
A |
17: 37,536,688 (GRCm39) |
V224E |
probably benign |
Het |
Or2r3 |
T |
G |
6: 42,448,687 (GRCm39) |
M142L |
probably benign |
Het |
Or6b2 |
A |
G |
1: 92,408,178 (GRCm39) |
L55P |
probably damaging |
Het |
Or8s8 |
T |
C |
15: 98,354,425 (GRCm39) |
V78A |
probably benign |
Het |
Pcsk4 |
G |
T |
10: 80,164,809 (GRCm39) |
H69N |
probably benign |
Het |
Plcl2 |
C |
T |
17: 50,975,188 (GRCm39) |
|
probably null |
Het |
Pmfbp1 |
T |
C |
8: 110,256,898 (GRCm39) |
I534T |
probably damaging |
Het |
Prss23 |
A |
T |
7: 89,159,241 (GRCm39) |
I276N |
probably damaging |
Het |
Ramac |
A |
G |
7: 81,417,387 (GRCm39) |
Y29C |
probably damaging |
Het |
Rhd |
T |
A |
4: 134,621,696 (GRCm39) |
F403Y |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Scg5 |
A |
G |
2: 113,657,737 (GRCm39) |
V58A |
possibly damaging |
Het |
Scn5a |
C |
T |
9: 119,315,102 (GRCm39) |
G1868R |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,894,613 (GRCm39) |
L486* |
probably null |
Het |
Slc25a47 |
G |
A |
12: 108,822,069 (GRCm39) |
R286H |
probably damaging |
Het |
Slc5a8 |
A |
C |
10: 88,740,916 (GRCm39) |
K277T |
probably damaging |
Het |
Slc66a3 |
T |
C |
12: 17,047,644 (GRCm39) |
Y96C |
probably damaging |
Het |
Sorcs1 |
T |
A |
19: 50,213,615 (GRCm39) |
E704V |
possibly damaging |
Het |
Sptan1 |
T |
C |
2: 29,908,527 (GRCm39) |
S1768P |
probably damaging |
Het |
Srd5a2 |
C |
T |
17: 74,328,378 (GRCm39) |
|
probably null |
Het |
Sytl2 |
A |
T |
7: 90,007,432 (GRCm39) |
K65* |
probably null |
Het |
Tas2r109 |
T |
G |
6: 132,957,844 (GRCm39) |
I29L |
probably benign |
Het |
Tfap2a |
A |
T |
13: 40,876,717 (GRCm39) |
V234E |
possibly damaging |
Het |
Tgfbr3 |
G |
A |
5: 107,325,679 (GRCm39) |
L128F |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,797,082 (GRCm39) |
L150Q |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,967,452 (GRCm39) |
I395L |
probably benign |
Het |
U2surp |
C |
T |
9: 95,373,474 (GRCm39) |
E232K |
probably benign |
Het |
Vax1 |
T |
C |
19: 59,154,656 (GRCm39) |
N327S |
probably benign |
Het |
Vmn1r14 |
T |
C |
6: 57,210,587 (GRCm39) |
V11A |
probably benign |
Het |
Vmn1r60 |
A |
G |
7: 5,547,782 (GRCm39) |
V106A |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,498,667 (GRCm39) |
S415G |
probably benign |
Het |
Vmn2r3 |
C |
T |
3: 64,182,517 (GRCm39) |
G394D |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,179 (GRCm39) |
E63G |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,308,410 (GRCm39) |
N545K |
probably benign |
Het |
Zp1 |
T |
C |
19: 10,892,217 (GRCm39) |
T56A |
probably benign |
Het |
|
Other mutations in Secisbp2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Secisbp2l
|
APN |
2 |
125,585,776 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00644:Secisbp2l
|
APN |
2 |
125,585,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01093:Secisbp2l
|
APN |
2 |
125,582,245 (GRCm39) |
missense |
probably benign |
|
IGL01621:Secisbp2l
|
APN |
2 |
125,615,131 (GRCm39) |
missense |
probably benign |
|
IGL01955:Secisbp2l
|
APN |
2 |
125,585,732 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02036:Secisbp2l
|
APN |
2 |
125,600,127 (GRCm39) |
missense |
probably benign |
|
IGL02045:Secisbp2l
|
APN |
2 |
125,617,498 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02182:Secisbp2l
|
APN |
2 |
125,589,497 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02408:Secisbp2l
|
APN |
2 |
125,582,789 (GRCm39) |
nonsense |
probably null |
|
IGL02455:Secisbp2l
|
APN |
2 |
125,615,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02953:Secisbp2l
|
APN |
2 |
125,602,194 (GRCm39) |
missense |
probably benign |
0.36 |
Rift
|
UTSW |
2 |
125,610,113 (GRCm39) |
missense |
probably damaging |
1.00 |
Seismic
|
UTSW |
2 |
125,587,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Secisbp2l
|
UTSW |
2 |
125,613,376 (GRCm39) |
missense |
probably damaging |
0.96 |
R0097:Secisbp2l
|
UTSW |
2 |
125,613,376 (GRCm39) |
missense |
probably damaging |
0.96 |
R1415:Secisbp2l
|
UTSW |
2 |
125,582,285 (GRCm39) |
missense |
probably benign |
0.00 |
R1626:Secisbp2l
|
UTSW |
2 |
125,617,606 (GRCm39) |
missense |
probably damaging |
0.99 |
R1926:Secisbp2l
|
UTSW |
2 |
125,582,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R1940:Secisbp2l
|
UTSW |
2 |
125,582,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Secisbp2l
|
UTSW |
2 |
125,589,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R2100:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2240:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2252:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2253:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2472:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2474:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2475:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2990:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2993:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3113:Secisbp2l
|
UTSW |
2 |
125,592,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R3696:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3749:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3750:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3800:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3810:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3812:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3815:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3816:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3817:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3880:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4077:Secisbp2l
|
UTSW |
2 |
125,593,785 (GRCm39) |
splice site |
probably benign |
|
R4096:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4097:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4164:Secisbp2l
|
UTSW |
2 |
125,593,803 (GRCm39) |
intron |
probably benign |
|
R4332:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4418:Secisbp2l
|
UTSW |
2 |
125,594,835 (GRCm39) |
missense |
probably benign |
0.00 |
R4598:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4600:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4602:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4603:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4678:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4679:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4684:Secisbp2l
|
UTSW |
2 |
125,587,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4749:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4934:Secisbp2l
|
UTSW |
2 |
125,582,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R5245:Secisbp2l
|
UTSW |
2 |
125,589,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R5521:Secisbp2l
|
UTSW |
2 |
125,594,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5547:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5630:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5631:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5632:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6039:Secisbp2l
|
UTSW |
2 |
125,615,136 (GRCm39) |
missense |
probably benign |
0.28 |
R6039:Secisbp2l
|
UTSW |
2 |
125,615,136 (GRCm39) |
missense |
probably benign |
0.28 |
R6616:Secisbp2l
|
UTSW |
2 |
125,610,146 (GRCm39) |
missense |
probably damaging |
0.96 |
R6938:Secisbp2l
|
UTSW |
2 |
125,592,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Secisbp2l
|
UTSW |
2 |
125,582,289 (GRCm39) |
missense |
probably benign |
|
R7373:Secisbp2l
|
UTSW |
2 |
125,599,191 (GRCm39) |
missense |
probably damaging |
0.99 |
R7403:Secisbp2l
|
UTSW |
2 |
125,602,199 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7484:Secisbp2l
|
UTSW |
2 |
125,613,452 (GRCm39) |
nonsense |
probably null |
|
R7504:Secisbp2l
|
UTSW |
2 |
125,600,091 (GRCm39) |
missense |
probably benign |
0.30 |
R7762:Secisbp2l
|
UTSW |
2 |
125,610,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Secisbp2l
|
UTSW |
2 |
125,613,465 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8018:Secisbp2l
|
UTSW |
2 |
125,587,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R8487:Secisbp2l
|
UTSW |
2 |
125,617,502 (GRCm39) |
nonsense |
probably null |
|
R8784:Secisbp2l
|
UTSW |
2 |
125,602,263 (GRCm39) |
nonsense |
probably null |
|
R8810:Secisbp2l
|
UTSW |
2 |
125,617,596 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8872:Secisbp2l
|
UTSW |
2 |
125,594,892 (GRCm39) |
missense |
probably benign |
|
R9111:Secisbp2l
|
UTSW |
2 |
125,602,206 (GRCm39) |
missense |
probably benign |
|
R9154:Secisbp2l
|
UTSW |
2 |
125,617,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9155:Secisbp2l
|
UTSW |
2 |
125,617,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Secisbp2l
|
UTSW |
2 |
125,589,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Secisbp2l
|
UTSW |
2 |
125,589,425 (GRCm39) |
missense |
probably benign |
0.03 |
R9592:Secisbp2l
|
UTSW |
2 |
125,582,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9602:Secisbp2l
|
UTSW |
2 |
125,609,356 (GRCm39) |
missense |
probably benign |
0.19 |
R9620:Secisbp2l
|
UTSW |
2 |
125,589,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGGTAGCGCACGTTCATG -3'
(R):5'- GCTAGGTTGGCCATGTTCTCTC -3'
Sequencing Primer
(F):5'- ACGTTCATGGTCCCAGAGG -3'
(R):5'- GGCCATGTTCTCTCTTAAATGACTG -3'
|
Posted On |
2018-05-04 |