Incidental Mutation 'R7762:Secisbp2l'
ID |
597913 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
045818-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R7762 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125610113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 269
(D269N)
|
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: D269N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: D269N
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 |
|
Meta Mutation Damage Score |
0.0897 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
T |
G |
14: 103,288,776 (GRCm39) |
D95E |
probably damaging |
Het |
Agpat4 |
A |
G |
17: 12,429,209 (GRCm39) |
T154A |
possibly damaging |
Het |
Ahnak2 |
A |
T |
12: 112,742,114 (GRCm39) |
S653T |
probably benign |
Het |
Aoc1l2 |
G |
A |
6: 48,909,620 (GRCm39) |
V622I |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,388,263 (GRCm39) |
P1124S |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,928,882 (GRCm39) |
|
probably null |
Het |
Atp4a |
T |
C |
7: 30,419,461 (GRCm39) |
I637T |
probably damaging |
Het |
Atxn7 |
T |
A |
14: 14,100,467 (GRCm38) |
C718S |
probably damaging |
Het |
Btbd2 |
T |
A |
10: 80,479,390 (GRCm39) |
I516F |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,134,820 (GRCm39) |
S128P |
probably benign |
Het |
Cat |
T |
C |
2: 103,287,203 (GRCm39) |
K476E |
probably benign |
Het |
Ccr9 |
A |
T |
9: 123,609,022 (GRCm39) |
T235S |
probably benign |
Het |
Cep55 |
T |
G |
19: 38,057,517 (GRCm39) |
|
probably null |
Het |
Clec2e |
A |
G |
6: 129,072,091 (GRCm39) |
F96S |
possibly damaging |
Het |
Clk2 |
G |
A |
3: 89,074,498 (GRCm39) |
V53I |
probably benign |
Het |
Clnk |
T |
C |
5: 38,925,484 (GRCm39) |
M106V |
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,808,523 (GRCm39) |
I842V |
unknown |
Het |
Csf1r |
A |
T |
18: 61,243,572 (GRCm39) |
N196I |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,770,725 (GRCm39) |
N116K |
|
Het |
Dnaja4 |
A |
G |
9: 54,616,494 (GRCm39) |
I166V |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,038,013 (GRCm39) |
E467G |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,129,719 (GRCm39) |
T1760A |
probably benign |
Het |
Eea1 |
T |
C |
10: 95,864,301 (GRCm39) |
V940A |
probably benign |
Het |
Egr1 |
T |
A |
18: 34,996,598 (GRCm39) |
V460E |
probably damaging |
Het |
Eral1 |
A |
G |
11: 77,965,359 (GRCm39) |
I352T |
possibly damaging |
Het |
F2 |
T |
C |
2: 91,459,041 (GRCm39) |
H476R |
possibly damaging |
Het |
Fam83b |
A |
G |
9: 76,399,714 (GRCm39) |
V463A |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,490,374 (GRCm39) |
L3762H |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,476,359 (GRCm39) |
S1802P |
probably damaging |
Het |
Fibp |
A |
T |
19: 5,514,202 (GRCm39) |
N296Y |
probably benign |
Het |
Figla |
A |
G |
6: 85,994,308 (GRCm39) |
M28V |
probably benign |
Het |
Foxd3 |
C |
A |
4: 99,545,362 (GRCm39) |
Y167* |
probably null |
Het |
Gm17019 |
T |
A |
5: 15,081,006 (GRCm39) |
H145L |
probably benign |
Het |
Gm48552 |
C |
T |
10: 81,226,269 (GRCm39) |
P18L |
probably damaging |
Het |
H2-Q6 |
A |
G |
17: 35,647,077 (GRCm39) |
N283S |
probably benign |
Het |
Hrh2 |
T |
A |
13: 54,368,058 (GRCm39) |
C11* |
probably null |
Het |
Hrnr |
G |
T |
3: 93,239,506 (GRCm39) |
G3248V |
unknown |
Het |
Iapp |
C |
A |
6: 142,249,122 (GRCm39) |
N58K |
possibly damaging |
Het |
Itga5 |
T |
C |
15: 103,258,184 (GRCm39) |
N837S |
probably benign |
Het |
Klhl35 |
C |
A |
7: 99,117,647 (GRCm39) |
H64N |
probably benign |
Het |
Lcor |
T |
C |
19: 41,572,106 (GRCm39) |
L287S |
probably benign |
Het |
Lrba |
T |
A |
3: 86,439,508 (GRCm39) |
V2015E |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,734,421 (GRCm39) |
I3276T |
probably benign |
Het |
Mlh3 |
G |
T |
12: 85,315,058 (GRCm39) |
T376K |
possibly damaging |
Het |
Muc21 |
G |
A |
17: 35,932,977 (GRCm39) |
T403I |
unknown |
Het |
Nbea |
A |
T |
3: 55,557,126 (GRCm39) |
H2550Q |
probably damaging |
Het |
Nid1 |
G |
A |
13: 13,663,630 (GRCm39) |
G763D |
probably damaging |
Het |
Ntf5 |
C |
A |
7: 45,065,243 (GRCm39) |
A125E |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,480,167 (GRCm39) |
C460S |
probably benign |
Het |
Or1j19 |
A |
T |
2: 36,677,022 (GRCm39) |
I162F |
probably benign |
Het |
Or1s2 |
A |
T |
19: 13,758,650 (GRCm39) |
R223W |
probably damaging |
Het |
Or2g7 |
G |
A |
17: 38,378,566 (GRCm39) |
C168Y |
probably damaging |
Het |
Or2y10 |
T |
A |
11: 49,455,588 (GRCm39) |
I280N |
possibly damaging |
Het |
Or4b1b |
T |
A |
2: 90,126,975 (GRCm39) |
K77* |
probably null |
Het |
Or6c33 |
A |
G |
10: 129,853,050 (GRCm39) |
|
probably benign |
Het |
Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
Orai3 |
G |
A |
7: 127,372,743 (GRCm39) |
G130S |
unknown |
Het |
Pcdhb12 |
T |
G |
18: 37,568,977 (GRCm39) |
V41G |
probably damaging |
Het |
Plec |
A |
T |
15: 76,067,823 (GRCm39) |
L1194Q |
unknown |
Het |
Pml |
C |
A |
9: 58,127,456 (GRCm39) |
C763F |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,619,473 (GRCm39) |
I318F |
probably benign |
Het |
Rcbtb2 |
C |
A |
14: 73,415,906 (GRCm39) |
T473N |
probably benign |
Het |
Sbno1 |
T |
A |
5: 124,512,729 (GRCm39) |
I1347F |
probably benign |
Het |
Serpina9 |
A |
T |
12: 103,967,575 (GRCm39) |
F273L |
probably damaging |
Het |
Sgms2 |
T |
A |
3: 131,116,898 (GRCm39) |
Y319F |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,379,531 (GRCm39) |
H1100Q |
probably benign |
Het |
Sh3bp5l |
A |
T |
11: 58,236,754 (GRCm39) |
|
probably null |
Het |
Shh |
T |
G |
5: 28,671,664 (GRCm39) |
K33T |
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,747,371 (GRCm39) |
Y339H |
probably damaging |
Het |
Spice1 |
T |
A |
16: 44,190,864 (GRCm39) |
|
probably null |
Het |
Tbx2 |
A |
G |
11: 85,726,727 (GRCm39) |
E257G |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,914,133 (GRCm39) |
T2468I |
possibly damaging |
Het |
Tmeff2 |
A |
T |
1: 51,018,575 (GRCm39) |
N186Y |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,631,760 (GRCm39) |
V673A |
possibly damaging |
Het |
Trappc11 |
G |
T |
8: 47,975,411 (GRCm39) |
T269K |
probably damaging |
Het |
Trpc6 |
T |
C |
9: 8,653,150 (GRCm39) |
F652S |
possibly damaging |
Het |
Trpv1 |
G |
T |
11: 73,145,048 (GRCm39) |
K711N |
probably benign |
Het |
Vcan |
G |
T |
13: 89,841,056 (GRCm39) |
P1496Q |
probably damaging |
Het |
Vmn1r192 |
G |
T |
13: 22,371,845 (GRCm39) |
A125E |
probably damaging |
Het |
Vti1b |
A |
T |
12: 79,211,720 (GRCm39) |
|
probably null |
Het |
Vwa3b |
A |
C |
1: 37,163,126 (GRCm39) |
D583A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,953,254 (GRCm39) |
S1120P |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,409 (GRCm39) |
F1356I |
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 |
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'- TGCTTCCACTTCAGCAAAGG -3'
(R):5'- GGCCATGTTCTCTCTTAAATGAC -3'
Sequencing Primer
(F):5'- TTCCACTTCAGCAAAGGACAAAAG -3'
(R):5'- ACTTGGCCATCATGGAGAATTTTCC -3'
|
Posted On |
2019-11-26 |