Incidental Mutation 'R9155:Secisbp2l'
| ID |
695288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Secisbp2l
|
| Ensembl Gene |
ENSMUSG00000035093 |
| Gene Name |
SECIS binding protein 2-like |
| Synonyms |
3110001I20Rik |
| MMRRC Submission |
068941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R9155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125617623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 18
(P18L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053699]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053699
AA Change: P18L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055772
Gene: ENSMUSG00000035093
AA Change: P18L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,691,811 (GRCm39) |
E34G |
probably damaging |
Het |
| Aldh1a3 |
A |
T |
7: 66,058,867 (GRCm39) |
L157* |
probably null |
Het |
| Asic2 |
T |
A |
11: 80,784,872 (GRCm39) |
T356S |
probably benign |
Het |
| Ate1 |
T |
C |
7: 129,996,463 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,350,423 (GRCm39) |
Q474L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,363 (GRCm39) |
E240G |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,189,842 (GRCm39) |
T689K |
possibly damaging |
Het |
| Carmil2 |
A |
G |
8: 106,412,922 (GRCm39) |
D6G |
probably benign |
Het |
| Ccnd2 |
A |
C |
6: 127,127,663 (GRCm39) |
V25G |
probably damaging |
Het |
| Ccnk |
T |
A |
12: 108,159,978 (GRCm39) |
F153L |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,249,485 (GRCm39) |
G808E |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,317 (GRCm39) |
R212Q |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,384 (GRCm39) |
W749R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,738,301 (GRCm39) |
T1073S |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,209 (GRCm39) |
D563V |
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
C |
16: 3,914,346 (GRCm39) |
H1292Q |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,449,051 (GRCm39) |
G2737W |
|
Het |
| Ddrgk1 |
T |
C |
2: 130,500,227 (GRCm39) |
Y223C |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,796 (GRCm39) |
Q589R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,907,475 (GRCm39) |
D4336G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,938 (GRCm39) |
Q140L |
possibly damaging |
Het |
| Ergic3 |
A |
G |
2: 155,850,780 (GRCm39) |
Y83C |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,329,497 (GRCm39) |
S421T |
probably benign |
Het |
| Fndc3a |
T |
A |
14: 72,921,162 (GRCm39) |
H4L |
possibly damaging |
Het |
| Gid8 |
T |
A |
2: 180,359,756 (GRCm39) |
Y213* |
probably null |
Het |
| Hephl1 |
G |
T |
9: 15,000,375 (GRCm39) |
H292Q |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,314,414 (GRCm39) |
Y443C |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,788 (GRCm39) |
R168H |
probably benign |
Het |
| Hus1 |
A |
G |
11: 8,956,056 (GRCm39) |
I159T |
probably damaging |
Het |
| Inha |
A |
G |
1: 75,486,133 (GRCm39) |
T143A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,016,089 (GRCm39) |
C766F |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,666,563 (GRCm39) |
E628G |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,120,571 (GRCm39) |
H221R |
probably benign |
Het |
| Llgl1 |
A |
G |
11: 60,597,934 (GRCm39) |
E351G |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,202,508 (GRCm39) |
Y253C |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,713 (GRCm39) |
R3489* |
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,050,640 (GRCm39) |
N704S |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,235,693 (GRCm39) |
N995S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,757,013 (GRCm39) |
C1077R |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,932,131 (GRCm39) |
P685L |
unknown |
Het |
| Ndufv1 |
A |
T |
19: 4,059,912 (GRCm39) |
C142S |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,660 (GRCm39) |
L226P |
probably damaging |
Het |
| Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
| Or12k8 |
A |
C |
2: 36,975,016 (GRCm39) |
M248R |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,791 (GRCm39) |
T99A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,224 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5b99 |
G |
A |
19: 12,976,428 (GRCm39) |
C26Y |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,379 (GRCm39) |
D182V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,691 (GRCm39) |
V812A |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,386,419 (GRCm39) |
C193S |
possibly damaging |
Het |
| Rbbp5 |
C |
A |
1: 132,422,023 (GRCm39) |
P308T |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,148,380 (GRCm39) |
T607A |
probably null |
Het |
| Slc27a4 |
G |
A |
2: 29,701,294 (GRCm39) |
G362S |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,672,571 (GRCm39) |
Y36H |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,447 (GRCm39) |
Y251C |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,296 (GRCm39) |
V373A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,184 (GRCm39) |
V107E |
probably damaging |
Het |
| Them7 |
A |
G |
2: 105,209,124 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,625,937 (GRCm39) |
V15041I |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,754,615 (GRCm39) |
V751A |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,196,343 (GRCm39) |
R309* |
probably null |
Het |
| Vmn2r10 |
A |
T |
5: 109,144,212 (GRCm39) |
D579E |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,207 (GRCm39) |
Q435R |
probably null |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,571 (GRCm39) |
H391Q |
probably damaging |
Het |
| Zbtb44 |
A |
T |
9: 30,965,309 (GRCm39) |
I240F |
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 |
|
R6378:Secisbp2l
|
UTSW |
2 |
125,610,245 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
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'- TGGCCAAGGTCTATCTCCTACC -3'
(R):5'- TGATTTCGTTCCAGCGCTG -3'
Sequencing Primer
(F):5'- TCTCCTACCAATAAAGAACAATGGAG -3'
(R):5'- GGCGTGTGATAAGTTCTTCCC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation