Incidental Mutation 'R7769:Secisbp2l'
ID |
598444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
045825-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R7769 (G1)
|
Quality Score |
101.467 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
CTGGG to C
at 125613465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (71/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
Abhd14b |
T |
C |
9: 106,328,819 (GRCm39) |
Y147H |
probably damaging |
Het |
Adam26b |
C |
A |
8: 43,974,732 (GRCm39) |
R90L |
probably benign |
Het |
Agt |
A |
T |
8: 125,291,289 (GRCm39) |
M6K |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,109,644 (GRCm39) |
S5P |
probably benign |
Het |
Arhgef38 |
A |
C |
3: 132,855,383 (GRCm39) |
S235A |
unknown |
Het |
Cabp5 |
A |
G |
7: 13,134,658 (GRCm39) |
D31G |
probably benign |
Het |
Cacna1h |
T |
A |
17: 25,604,779 (GRCm39) |
D1178V |
probably damaging |
Het |
Ccdc88a |
A |
T |
11: 29,432,381 (GRCm39) |
E1199D |
probably damaging |
Het |
Cd244a |
A |
T |
1: 171,404,873 (GRCm39) |
I242F |
probably benign |
Het |
Clpb |
G |
T |
7: 101,371,924 (GRCm39) |
R220L |
probably damaging |
Het |
Cltc |
C |
T |
11: 86,610,319 (GRCm39) |
R638H |
probably damaging |
Het |
Cnr1 |
A |
T |
4: 33,944,892 (GRCm39) |
M427L |
probably benign |
Het |
Ctnnbl1 |
C |
T |
2: 157,579,390 (GRCm39) |
|
probably benign |
Het |
Epb41l2 |
A |
T |
10: 25,369,471 (GRCm39) |
T597S |
probably benign |
Het |
Epb41l3 |
T |
C |
17: 69,545,421 (GRCm39) |
Y163H |
probably damaging |
Het |
Fgg |
A |
G |
3: 82,920,433 (GRCm39) |
|
probably null |
Het |
Gm37240 |
A |
T |
3: 84,417,232 (GRCm39) |
D162E |
possibly damaging |
Het |
Gm44511 |
T |
A |
6: 128,797,240 (GRCm39) |
T83S |
probably benign |
Het |
Gm6685 |
T |
A |
11: 28,289,252 (GRCm39) |
Y188F |
probably benign |
Het |
Gprin2 |
A |
T |
14: 33,917,570 (GRCm39) |
C67S |
probably benign |
Het |
Grk6 |
A |
G |
13: 55,598,820 (GRCm39) |
D140G |
probably benign |
Het |
Hps3 |
T |
C |
3: 20,072,972 (GRCm39) |
|
probably null |
Het |
Hspb7 |
T |
C |
4: 141,151,335 (GRCm39) |
V159A |
possibly damaging |
Het |
Ibsp |
A |
G |
5: 104,453,871 (GRCm39) |
N70D |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,458,050 (GRCm39) |
N196D |
probably damaging |
Het |
Igfn1 |
A |
T |
1: 135,910,143 (GRCm39) |
F147Y |
possibly damaging |
Het |
Iqca1 |
T |
G |
1: 90,005,532 (GRCm39) |
D492A |
possibly damaging |
Het |
Klhl42 |
T |
C |
6: 146,993,358 (GRCm39) |
L110P |
possibly damaging |
Het |
Krt12 |
C |
T |
11: 99,308,852 (GRCm39) |
R395Q |
probably damaging |
Het |
Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
Mttp |
A |
C |
3: 137,808,873 (GRCm39) |
L730R |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,571,803 (GRCm39) |
I239L |
unknown |
Het |
Myo15a |
T |
C |
11: 60,399,975 (GRCm39) |
F1723L |
|
Het |
Niban2 |
A |
G |
2: 32,809,844 (GRCm39) |
T314A |
possibly damaging |
Het |
Nin |
T |
C |
12: 70,090,004 (GRCm39) |
D1137G |
|
Het |
Nsf |
C |
T |
11: 103,819,665 (GRCm39) |
V35M |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,648,207 (GRCm39) |
I646K |
possibly damaging |
Het |
Nwd2 |
A |
G |
5: 63,961,847 (GRCm39) |
N477S |
probably damaging |
Het |
Or1p1 |
T |
A |
11: 74,179,589 (GRCm39) |
V39E |
probably damaging |
Het |
P4ha3 |
A |
G |
7: 99,934,924 (GRCm39) |
D62G |
probably damaging |
Het |
Palb2 |
G |
T |
7: 121,727,638 (GRCm39) |
D77E |
probably benign |
Het |
Pcmtd2 |
T |
C |
2: 181,493,494 (GRCm39) |
V233A |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pgr |
C |
T |
9: 8,946,856 (GRCm39) |
T699I |
possibly damaging |
Het |
Pknox2 |
C |
A |
9: 36,806,602 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
T |
C |
9: 124,439,087 (GRCm38) |
H110R |
|
Het |
Psmd11 |
T |
A |
11: 80,325,408 (GRCm39) |
|
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,736,001 (GRCm39) |
N59S |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,588,921 (GRCm39) |
D1662E |
possibly damaging |
Het |
Rasip1 |
A |
G |
7: 45,278,239 (GRCm39) |
Y180C |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 157,033,900 (GRCm39) |
S393G |
probably benign |
Het |
Rtn4r |
C |
T |
16: 17,969,153 (GRCm39) |
P194S |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,798,210 (GRCm39) |
G944D |
probably damaging |
Het |
Scamp3 |
A |
G |
3: 89,085,298 (GRCm39) |
D23G |
probably damaging |
Het |
Shcbp1 |
A |
G |
8: 4,789,232 (GRCm39) |
I529T |
probably damaging |
Het |
Slc5a10 |
T |
A |
11: 61,564,473 (GRCm39) |
D502V |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,880,855 (GRCm39) |
I323T |
possibly damaging |
Het |
Spred1 |
T |
C |
2: 117,007,930 (GRCm39) |
S279P |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,826,880 (GRCm39) |
V949D |
possibly damaging |
Het |
Stxbp3 |
A |
G |
3: 108,708,144 (GRCm39) |
S386P |
probably benign |
Het |
Syt14 |
A |
G |
1: 192,666,632 (GRCm39) |
S91P |
unknown |
Het |
Thpo |
C |
T |
16: 20,544,401 (GRCm39) |
A211T |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,992,530 (GRCm39) |
D716V |
probably damaging |
Het |
Trbv26 |
A |
G |
6: 41,204,481 (GRCm39) |
Y8C |
probably benign |
Het |
Tshr |
A |
G |
12: 91,505,044 (GRCm39) |
I661V |
probably damaging |
Het |
Uvrag |
G |
A |
7: 98,628,928 (GRCm39) |
P380S |
probably damaging |
Het |
Vkorc1 |
G |
T |
7: 127,493,696 (GRCm39) |
Y88* |
probably null |
Het |
Vmn1r63 |
C |
T |
7: 5,806,369 (GRCm39) |
V88M |
probably damaging |
Het |
Wdsub1 |
A |
G |
2: 59,708,763 (GRCm39) |
Y37H |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,809,983 (GRCm39) |
D31G |
probably benign |
Het |
Zc3h12d |
G |
A |
10: 7,743,390 (GRCm39) |
A387T |
probably benign |
Het |
Zfp438 |
C |
T |
18: 5,213,377 (GRCm39) |
R527H |
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 |
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 |
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'- ACTGCTGCTCTACACACATC -3'
(R):5'- AAGAACGTGTGAATGTGCTTATGG -3'
Sequencing Primer
(F):5'- TCTCACCACACATGAGAGCAG -3'
(R):5'- GAGCCAATGATGTGTGGT -3'
|
Posted On |
2019-11-26 |