Incidental Mutation 'R2240:Secisbp2l'
ID |
240292 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
040240-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R2240 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125582657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 933
(G933D)
|
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: G933D
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: G933D
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 |
probably benign
Transcript: ENSMUST00000139944
|
SMART Domains |
Protein: ENSMUSP00000121529 Gene: ENSMUSG00000035093
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,595,417 (GRCm39) |
I318N |
probably damaging |
Het |
Abl1 |
A |
G |
2: 31,690,517 (GRCm39) |
K679E |
probably benign |
Het |
Actr8 |
A |
G |
14: 29,711,714 (GRCm39) |
H420R |
possibly damaging |
Het |
Arhgap29 |
T |
A |
3: 121,805,102 (GRCm39) |
V897D |
probably benign |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,782,633 (GRCm39) |
|
probably null |
Het |
Brd4 |
T |
C |
17: 32,432,613 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,815,514 (GRCm39) |
E184G |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,169,032 (GRCm39) |
S240G |
possibly damaging |
Het |
Cbx7 |
C |
A |
15: 79,802,558 (GRCm39) |
A240S |
probably damaging |
Het |
Ccdc181 |
A |
T |
1: 164,107,596 (GRCm39) |
D93V |
probably damaging |
Het |
Ces2g |
A |
C |
8: 105,689,134 (GRCm39) |
S37R |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,714,746 (GRCm39) |
R624W |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,531,696 (GRCm39) |
K703E |
probably benign |
Het |
Clec2h |
T |
C |
6: 128,652,845 (GRCm39) |
V204A |
probably benign |
Het |
Cltb |
T |
C |
13: 54,746,967 (GRCm39) |
N3S |
possibly damaging |
Het |
Col9a1 |
A |
G |
1: 24,218,582 (GRCm39) |
I65V |
unknown |
Het |
D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,021,931 (GRCm39) |
S1191G |
probably benign |
Het |
Ehf |
G |
A |
2: 103,104,420 (GRCm39) |
P163S |
probably benign |
Het |
Fam170b |
A |
C |
14: 32,557,825 (GRCm39) |
H220P |
probably damaging |
Het |
Fastkd1 |
G |
A |
2: 69,527,297 (GRCm39) |
T598I |
probably benign |
Het |
Fignl2 |
C |
T |
15: 100,951,916 (GRCm39) |
G122D |
probably damaging |
Het |
Foxp4 |
C |
A |
17: 48,182,201 (GRCm39) |
V530L |
unknown |
Het |
Gcnt1 |
G |
T |
19: 17,306,695 (GRCm39) |
D343E |
possibly damaging |
Het |
Gja8 |
T |
G |
3: 96,827,618 (GRCm39) |
N15H |
probably benign |
Het |
Gm128 |
T |
C |
3: 95,148,243 (GRCm39) |
E17G |
probably benign |
Het |
Gnl1 |
T |
C |
17: 36,293,571 (GRCm39) |
V252A |
probably benign |
Het |
Gpld1 |
G |
A |
13: 25,166,490 (GRCm39) |
|
probably null |
Het |
Gpr179 |
A |
G |
11: 97,242,559 (GRCm39) |
L95P |
probably damaging |
Het |
Gtf2a1 |
A |
T |
12: 91,553,513 (GRCm39) |
D31E |
possibly damaging |
Het |
Il12a |
T |
A |
3: 68,601,517 (GRCm39) |
Y58* |
probably null |
Het |
Il1r2 |
T |
C |
1: 40,144,630 (GRCm39) |
W106R |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,543,488 (GRCm39) |
S374G |
probably benign |
Het |
Mafb |
A |
T |
2: 160,207,947 (GRCm39) |
V217E |
probably damaging |
Het |
Mapk13 |
T |
A |
17: 28,997,085 (GRCm39) |
D292E |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,433,209 (GRCm39) |
D871G |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,765,701 (GRCm39) |
T5220K |
possibly damaging |
Het |
Mfsd6 |
T |
C |
1: 52,699,978 (GRCm39) |
I723M |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,154,668 (GRCm39) |
S127N |
probably benign |
Het |
Mpeg1 |
A |
C |
19: 12,440,402 (GRCm39) |
E620A |
probably damaging |
Het |
Mrgprb3 |
A |
T |
7: 48,293,389 (GRCm39) |
F54Y |
probably damaging |
Het |
Mtx2 |
A |
G |
2: 74,699,696 (GRCm39) |
I156V |
probably benign |
Het |
Neurog1 |
T |
C |
13: 56,399,348 (GRCm39) |
E133G |
probably damaging |
Het |
Nid2 |
G |
A |
14: 19,855,982 (GRCm39) |
D1236N |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,491,288 (GRCm39) |
T213A |
probably benign |
Het |
Or7e173 |
A |
G |
9: 19,938,440 (GRCm39) |
S265P |
probably damaging |
Het |
Otog |
A |
G |
7: 45,890,453 (GRCm39) |
M1V |
probably null |
Het |
Pde4dip |
C |
T |
3: 97,631,480 (GRCm39) |
R1143K |
probably benign |
Het |
Pgam2 |
T |
C |
11: 5,753,265 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,090,250 (GRCm39) |
D30G |
probably damaging |
Het |
Pramel5 |
C |
A |
4: 143,999,506 (GRCm39) |
E194* |
probably null |
Het |
Prss22 |
T |
A |
17: 24,215,755 (GRCm39) |
S56C |
probably damaging |
Het |
Rab23 |
A |
G |
1: 33,778,406 (GRCm39) |
N216S |
probably benign |
Het |
Rasgrf1 |
A |
T |
9: 89,858,815 (GRCm39) |
E491V |
probably damaging |
Het |
Rbbp8 |
C |
T |
18: 11,810,726 (GRCm39) |
T76I |
probably damaging |
Het |
Rtn2 |
G |
A |
7: 19,020,754 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
A |
T |
14: 56,137,124 (GRCm39) |
N62K |
probably damaging |
Het |
Slc26a3 |
T |
C |
12: 31,507,071 (GRCm39) |
V342A |
probably damaging |
Het |
Slc49a3 |
A |
G |
5: 108,592,573 (GRCm39) |
S234P |
probably benign |
Het |
Snx30 |
G |
T |
4: 59,886,515 (GRCm39) |
C308F |
probably damaging |
Het |
Timd2 |
A |
T |
11: 46,569,043 (GRCm39) |
V205E |
probably benign |
Het |
Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
Tnfaip6 |
G |
A |
2: 51,940,926 (GRCm39) |
D156N |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,232,461 (GRCm39) |
E1463D |
probably damaging |
Het |
Urb2 |
C |
A |
8: 124,756,878 (GRCm39) |
P862T |
probably benign |
Het |
Vmn1r64 |
A |
T |
7: 5,887,369 (GRCm39) |
L58* |
probably null |
Het |
Vmn2r3 |
C |
A |
3: 64,166,483 (GRCm39) |
G883C |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,837,465 (GRCm39) |
C2707S |
possibly damaging |
Het |
Wdr11 |
G |
T |
7: 129,207,418 (GRCm39) |
|
probably null |
Het |
Wdr37 |
T |
A |
13: 8,911,268 (GRCm39) |
|
probably benign |
Het |
Wtap |
G |
A |
17: 13,194,352 (GRCm39) |
Q95* |
probably null |
Het |
Zfp26 |
A |
T |
9: 20,348,563 (GRCm39) |
L667H |
probably damaging |
Het |
Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
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 |
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 |
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'- GAGCTGCACTTCTTCTGCTG -3'
(R):5'- CTAACTGGAGGAGCATGGTG -3'
Sequencing Primer
(F):5'- GCTGTGGGCTCATGACTATAATCC -3'
(R):5'- AGCATGGTGGAGACGTCC -3'
|
Posted On |
2014-10-15 |