Incidental Mutation 'R4418:Secisbp2l'
ID |
326921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
041139-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R4418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 125594835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 542
(C542S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053699]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053699
AA Change: C542S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: C542S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136450
|
Predicted Effect |
unknown
Transcript: ENSMUST00000139944
AA Change: C167S
|
SMART Domains |
Protein: ENSMUSP00000121529 Gene: ENSMUSG00000035093 AA Change: C167S
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L7Ae
|
326 |
427 |
3.5e-24 |
PFAM |
|
Meta Mutation Damage Score |
0.0580 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
95% (72/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
A |
G |
1: 159,872,372 (GRCm39) |
|
noncoding transcript |
Het |
Acot12 |
A |
G |
13: 91,932,524 (GRCm39) |
T507A |
possibly damaging |
Het |
Agap2 |
T |
G |
10: 126,927,519 (GRCm39) |
C1113W |
probably damaging |
Het |
Ap3s1-ps2 |
A |
T |
8: 95,131,921 (GRCm39) |
|
noncoding transcript |
Het |
B3gnt3 |
T |
C |
8: 72,146,413 (GRCm39) |
R39G |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,849,194 (GRCm39) |
D899V |
possibly damaging |
Het |
Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Col6a1 |
T |
A |
10: 76,554,239 (GRCm39) |
K323* |
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dclre1c |
T |
C |
2: 3,453,972 (GRCm39) |
F285S |
possibly damaging |
Het |
Dctn2 |
T |
G |
10: 127,114,234 (GRCm39) |
M360R |
probably benign |
Het |
Dele1 |
T |
C |
18: 38,394,340 (GRCm39) |
|
probably null |
Het |
Dgka |
A |
T |
10: 128,563,963 (GRCm39) |
L462Q |
probably damaging |
Het |
Drg2 |
A |
C |
11: 60,358,972 (GRCm39) |
K364T |
probably damaging |
Het |
Dync1li1 |
T |
A |
9: 114,535,238 (GRCm39) |
S167R |
probably damaging |
Het |
Entrep1 |
T |
C |
19: 23,956,799 (GRCm39) |
T365A |
probably benign |
Het |
Fer |
A |
T |
17: 64,336,286 (GRCm39) |
D554V |
possibly damaging |
Het |
Fignl2 |
A |
G |
15: 100,951,830 (GRCm39) |
S151P |
possibly damaging |
Het |
Gbgt1 |
A |
G |
2: 28,388,420 (GRCm39) |
Y35C |
probably damaging |
Het |
Gm6526 |
T |
A |
14: 43,986,302 (GRCm39) |
I79K |
probably damaging |
Het |
Gpr6 |
T |
G |
10: 40,946,604 (GRCm39) |
N326T |
probably damaging |
Het |
H2bc4 |
C |
T |
13: 23,868,486 (GRCm39) |
T91M |
probably damaging |
Het |
Hcn4 |
C |
T |
9: 58,751,178 (GRCm39) |
T268M |
probably benign |
Het |
Hnf4g |
A |
G |
3: 3,713,154 (GRCm39) |
M243V |
possibly damaging |
Het |
Homer1 |
A |
G |
13: 93,538,577 (GRCm39) |
E314G |
probably damaging |
Het |
Hs6st1 |
T |
C |
1: 36,143,108 (GRCm39) |
Y348H |
probably damaging |
Het |
Ifitm6 |
A |
T |
7: 140,595,984 (GRCm39) |
I103N |
probably damaging |
Het |
Ipo5 |
T |
G |
14: 121,181,305 (GRCm39) |
C944G |
possibly damaging |
Het |
Kcnb1 |
C |
A |
2: 166,947,595 (GRCm39) |
E418* |
probably null |
Het |
Kcnk2 |
G |
A |
1: 188,988,924 (GRCm39) |
R207C |
probably damaging |
Het |
Kctd8 |
T |
C |
5: 69,498,505 (GRCm39) |
E47G |
probably damaging |
Het |
Klhdc2 |
C |
T |
12: 69,354,371 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,509,140 (GRCm39) |
|
probably benign |
Het |
Mgat1 |
A |
G |
11: 49,152,072 (GRCm39) |
Y185C |
probably damaging |
Het |
Mmp25 |
T |
A |
17: 23,863,044 (GRCm39) |
R122S |
probably damaging |
Het |
Mrpl39 |
C |
A |
16: 84,522,012 (GRCm39) |
|
probably null |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,559,898 (GRCm39) |
F1007S |
probably damaging |
Het |
Neto1 |
T |
C |
18: 86,422,981 (GRCm39) |
M146T |
probably benign |
Het |
Opn1sw |
G |
A |
6: 29,379,423 (GRCm39) |
R45* |
probably null |
Het |
Osbpl5 |
A |
T |
7: 143,263,552 (GRCm39) |
C98* |
probably null |
Het |
Pacc1 |
T |
A |
1: 191,080,629 (GRCm39) |
V283E |
probably damaging |
Het |
Pcdhb7 |
C |
T |
18: 37,476,535 (GRCm39) |
A557V |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,586,748 (GRCm39) |
F155L |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pmfbp1 |
C |
A |
8: 110,257,265 (GRCm39) |
Q609K |
probably benign |
Het |
Pnpo |
A |
T |
11: 96,831,795 (GRCm39) |
|
probably null |
Het |
Ppp2cb |
G |
A |
8: 34,107,077 (GRCm39) |
R254Q |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,619,766 (GRCm39) |
S349T |
probably damaging |
Het |
Rnf167 |
T |
A |
11: 70,538,743 (GRCm39) |
W17R |
probably damaging |
Het |
Rpl21-ps4 |
A |
G |
14: 11,227,879 (GRCm38) |
|
noncoding transcript |
Het |
Rxfp2 |
A |
T |
5: 149,972,265 (GRCm39) |
H158L |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,661,569 (GRCm39) |
C1807Y |
probably damaging |
Het |
Scaper |
T |
A |
9: 55,745,464 (GRCm39) |
E601D |
probably damaging |
Het |
Slc6a19 |
A |
G |
13: 73,832,514 (GRCm39) |
V393A |
possibly damaging |
Het |
Stil |
A |
G |
4: 114,866,574 (GRCm39) |
N176S |
probably benign |
Het |
Tap1 |
T |
A |
17: 34,407,353 (GRCm39) |
|
probably null |
Het |
Tcl1b3 |
A |
T |
12: 105,159,844 (GRCm39) |
Q105L |
probably damaging |
Het |
Trappc10 |
G |
T |
10: 78,053,022 (GRCm39) |
A251D |
probably damaging |
Het |
Trim43a |
G |
T |
9: 88,464,206 (GRCm39) |
C39F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,719,825 (GRCm39) |
|
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,803,951 (GRCm39) |
L208* |
probably null |
Het |
Vmn2r88 |
G |
T |
14: 51,655,538 (GRCm39) |
L583F |
probably damaging |
Het |
Wasf1 |
C |
T |
10: 40,812,578 (GRCm39) |
H456Y |
unknown |
Het |
Zfp120 |
A |
G |
2: 149,960,105 (GRCm39) |
I73T |
possibly damaging |
Het |
Zfp990 |
T |
C |
4: 145,263,298 (GRCm39) |
C99R |
possibly damaging |
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 |
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 |
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'- GACTGTCATACAATGCTGGTTTTG -3'
(R):5'- TTTCCATGGGAAGAGAAACCTTG -3'
Sequencing Primer
(F):5'- GCCATGTGCATATTACAACATCTAC -3'
(R):5'- AAACCTTGTGTTTTTGAGGCTTTG -3'
|
Posted On |
2015-07-07 |