Incidental Mutation 'R3113:Secisbp2l'
ID |
263864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
040586-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R3113 (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 125592206 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 672
(F672I)
|
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: F672I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: F672I
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: F297I
|
SMART Domains |
Protein: ENSMUSP00000121529 Gene: ENSMUSG00000035093 AA Change: F297I
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 |
0.2387 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,100,372 (GRCm39) |
Y248* |
probably null |
Het |
Acta2 |
T |
C |
19: 34,220,752 (GRCm39) |
I319V |
probably benign |
Het |
Alox15 |
A |
T |
11: 70,235,703 (GRCm39) |
N585K |
probably benign |
Het |
Ank |
T |
A |
15: 27,571,700 (GRCm39) |
I324N |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,574,813 (GRCm39) |
N99D |
probably damaging |
Het |
As3mt |
T |
C |
19: 46,703,717 (GRCm39) |
|
probably benign |
Het |
Atg4b |
C |
T |
1: 93,703,426 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
T |
7: 126,047,541 (GRCm39) |
V705D |
probably damaging |
Het |
Bves |
T |
C |
10: 45,219,148 (GRCm39) |
V82A |
probably benign |
Het |
Cad |
C |
A |
5: 31,231,481 (GRCm39) |
H7Q |
possibly damaging |
Het |
Carmil1 |
A |
G |
13: 24,253,740 (GRCm39) |
V387A |
probably benign |
Het |
Csnk2a1 |
T |
A |
2: 152,105,134 (GRCm39) |
F181Y |
probably damaging |
Het |
Cwc22 |
A |
T |
2: 77,754,823 (GRCm39) |
|
probably benign |
Het |
Ddx18 |
A |
G |
1: 121,493,877 (GRCm39) |
S36P |
possibly damaging |
Het |
Dnai2 |
T |
A |
11: 114,642,756 (GRCm39) |
|
probably null |
Het |
Ehbp1l1 |
A |
T |
19: 5,769,008 (GRCm39) |
M765K |
probably benign |
Het |
Fitm2 |
T |
C |
2: 163,311,511 (GRCm39) |
Y234C |
probably damaging |
Het |
Flrt3 |
T |
C |
2: 140,503,454 (GRCm39) |
E58G |
probably benign |
Het |
Foxs1 |
A |
G |
2: 152,774,156 (GRCm39) |
V299A |
probably benign |
Het |
Galnt12 |
A |
G |
4: 47,108,415 (GRCm39) |
N184S |
probably benign |
Het |
Gata6 |
T |
C |
18: 11,063,124 (GRCm39) |
L464P |
probably damaging |
Het |
Gm17332 |
T |
C |
11: 31,132,384 (GRCm39) |
T27A |
possibly damaging |
Het |
Ifna11 |
A |
C |
4: 88,738,220 (GRCm39) |
M9L |
probably benign |
Het |
Ldb3 |
T |
A |
14: 34,251,418 (GRCm39) |
*623L |
probably null |
Het |
Lrrc27 |
A |
G |
7: 138,798,223 (GRCm39) |
D106G |
probably damaging |
Het |
Ly6f |
A |
G |
15: 75,143,577 (GRCm39) |
N95D |
probably benign |
Het |
Lyst |
A |
G |
13: 13,844,512 (GRCm39) |
I1901V |
probably benign |
Het |
Mboat2 |
A |
G |
12: 24,932,718 (GRCm39) |
Y70C |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,269,247 (GRCm39) |
G610D |
probably damaging |
Het |
Mroh1 |
T |
A |
15: 76,292,736 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
G |
7: 141,399,871 (GRCm39) |
H448R |
unknown |
Het |
Myh2 |
A |
G |
11: 67,076,012 (GRCm39) |
N733S |
probably damaging |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
Ocrl |
A |
G |
X: 47,022,304 (GRCm39) |
E258G |
probably benign |
Het |
Or2w1 |
T |
A |
13: 21,317,299 (GRCm39) |
M118K |
probably damaging |
Het |
Or6c2 |
A |
T |
10: 129,363,012 (GRCm39) |
R305S |
probably benign |
Het |
Pak1 |
C |
A |
7: 97,515,321 (GRCm39) |
S115* |
probably null |
Het |
Pilrb1 |
C |
T |
5: 137,853,195 (GRCm39) |
V203I |
possibly damaging |
Het |
Ppfia2 |
T |
A |
10: 106,742,256 (GRCm39) |
Y1016* |
probably null |
Het |
Prmt3 |
C |
A |
7: 49,431,760 (GRCm39) |
P121Q |
probably damaging |
Het |
Rhox6 |
T |
A |
X: 36,916,507 (GRCm39) |
I116N |
possibly damaging |
Het |
Saxo2 |
A |
C |
7: 82,292,949 (GRCm39) |
F49L |
probably benign |
Het |
Scn2a |
A |
C |
2: 65,579,129 (GRCm39) |
D1488A |
possibly damaging |
Het |
Scn5a |
T |
A |
9: 119,314,738 (GRCm39) |
D1989V |
probably damaging |
Het |
Sec31b |
C |
A |
19: 44,506,624 (GRCm39) |
E905* |
probably null |
Het |
Slc22a23 |
C |
T |
13: 34,367,058 (GRCm39) |
G650E |
probably damaging |
Het |
Smu1 |
A |
G |
4: 40,748,658 (GRCm39) |
F211L |
probably benign |
Het |
Spef1l |
G |
T |
7: 139,555,878 (GRCm39) |
|
probably benign |
Het |
Tab1 |
C |
T |
15: 80,032,461 (GRCm39) |
L23F |
probably benign |
Het |
Thsd7b |
G |
A |
1: 129,977,599 (GRCm39) |
C1078Y |
probably benign |
Het |
Ttn |
A |
T |
2: 76,644,542 (GRCm39) |
Y13071N |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 102,899,870 (GRCm39) |
V354A |
probably benign |
Het |
Usp31 |
A |
G |
7: 121,278,736 (GRCm39) |
S210P |
probably damaging |
Het |
Wdr12 |
T |
C |
1: 60,126,221 (GRCm39) |
D198G |
probably benign |
Het |
Wrap53 |
A |
G |
11: 69,454,144 (GRCm39) |
V298A |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,340,491 (GRCm39) |
I911V |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,918,752 (GRCm39) |
M78T |
unknown |
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 |
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 |
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'- AAACACAGCACCGTGGAGTC -3'
(R):5'- AGCGTCTGAAGTTTCCAGG -3'
Sequencing Primer
(F):5'- ACCGTGGAGTCCCATTCCAAG -3'
(R):5'- GCGTCTGAAGTTTCCAGGTTCTTC -3'
|
Posted On |
2015-02-05 |