Incidental Mutation 'R1926:Secisbp2l'
ID |
213414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
039944-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R1926 (G1)
|
Quality Score |
112 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 125582597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 953
(Q953L)
|
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: Q953L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: Q953L
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 |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.0%
- 20x: 91.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
C |
T |
7: 119,376,359 (GRCm39) |
T362M |
probably damaging |
Het |
Ang6 |
A |
G |
14: 44,239,695 (GRCm39) |
V11A |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,392,028 (GRCm39) |
Y1880H |
probably damaging |
Het |
Bmi1 |
A |
G |
2: 18,687,084 (GRCm39) |
I55V |
probably benign |
Het |
Bnipl |
G |
A |
3: 95,150,354 (GRCm39) |
T297M |
probably damaging |
Het |
Bpifa2 |
T |
C |
2: 153,855,669 (GRCm39) |
V198A |
probably benign |
Het |
Brms1l |
G |
T |
12: 55,909,946 (GRCm39) |
V239F |
possibly damaging |
Het |
Ccdc158 |
A |
G |
5: 92,798,647 (GRCm39) |
V351A |
probably benign |
Het |
Ces1c |
A |
G |
8: 93,854,232 (GRCm39) |
F101S |
possibly damaging |
Het |
Cpb2 |
T |
C |
14: 75,479,837 (GRCm39) |
Y15H |
probably benign |
Het |
Dglucy |
A |
T |
12: 100,833,414 (GRCm39) |
N535I |
possibly damaging |
Het |
Dop1a |
C |
A |
9: 86,405,072 (GRCm39) |
H1763Q |
probably damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,385,120 (GRCm39) |
M236I |
probably benign |
Het |
Efna2 |
T |
C |
10: 80,022,710 (GRCm39) |
Y85H |
probably damaging |
Het |
Eipr1 |
A |
T |
12: 28,914,836 (GRCm39) |
|
probably null |
Het |
Eln |
A |
T |
5: 134,735,421 (GRCm39) |
Y787* |
probably null |
Het |
Erbb2 |
G |
C |
11: 98,315,990 (GRCm39) |
E364D |
probably benign |
Het |
F5 |
A |
G |
1: 164,007,077 (GRCm39) |
T294A |
probably damaging |
Het |
Fam47e |
A |
G |
5: 92,733,244 (GRCm39) |
T194A |
possibly damaging |
Het |
Galk1 |
T |
C |
11: 115,901,073 (GRCm39) |
D202G |
probably damaging |
Het |
Glb1l2 |
T |
C |
9: 26,682,362 (GRCm39) |
D163G |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,268,170 (GRCm39) |
E408G |
probably benign |
Het |
Gp1ba |
A |
T |
11: 70,531,715 (GRCm39) |
|
probably benign |
Het |
Grm3 |
A |
T |
5: 9,554,881 (GRCm39) |
C804S |
probably damaging |
Het |
Gzmd |
A |
G |
14: 56,367,737 (GRCm39) |
C179R |
probably damaging |
Het |
Hadhb |
T |
A |
5: 30,385,935 (GRCm39) |
L415Q |
possibly damaging |
Het |
Ift80 |
T |
C |
3: 68,823,498 (GRCm39) |
Y588C |
probably damaging |
Het |
Jazf1 |
T |
C |
6: 53,045,516 (GRCm39) |
T13A |
probably benign |
Het |
Kat8 |
T |
A |
7: 127,514,467 (GRCm39) |
Y67* |
probably null |
Het |
Kcnab1 |
G |
A |
3: 65,283,933 (GRCm39) |
E384K |
possibly damaging |
Het |
Lhx3 |
A |
T |
2: 26,092,200 (GRCm39) |
Y230* |
probably null |
Het |
Lmx1b |
T |
A |
2: 33,454,674 (GRCm39) |
M365L |
probably damaging |
Het |
Ly6k |
G |
T |
15: 74,669,051 (GRCm39) |
P76Q |
probably benign |
Het |
Lypd10 |
G |
A |
7: 24,413,541 (GRCm39) |
G186R |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,200 (GRCm39) |
H1840Q |
unknown |
Het |
Map3k2 |
A |
G |
18: 32,336,163 (GRCm39) |
I117V |
probably damaging |
Het |
Med13 |
C |
A |
11: 86,179,899 (GRCm39) |
A1350S |
possibly damaging |
Het |
Midn |
T |
C |
10: 79,987,495 (GRCm39) |
S109P |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,293,653 (GRCm39) |
T803A |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,337,182 (GRCm39) |
Y1018C |
probably damaging |
Het |
Ndufc1 |
A |
T |
3: 51,314,816 (GRCm39) |
N63K |
probably benign |
Het |
Neb |
A |
T |
2: 52,169,647 (GRCm39) |
S1811R |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,371,669 (GRCm39) |
D260G |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Oas1g |
T |
C |
5: 121,017,205 (GRCm39) |
K283R |
probably benign |
Het |
Obscn |
T |
C |
11: 58,954,300 (GRCm39) |
T4037A |
|
Het |
Or6b1 |
T |
G |
6: 42,815,247 (GRCm39) |
L144R |
probably damaging |
Het |
Or6b3 |
A |
G |
1: 92,439,330 (GRCm39) |
L140P |
probably damaging |
Het |
Otop2 |
A |
T |
11: 115,217,781 (GRCm39) |
T206S |
probably benign |
Het |
Pamr1 |
A |
G |
2: 102,471,342 (GRCm39) |
|
probably null |
Het |
Pkp1 |
G |
A |
1: 135,805,411 (GRCm39) |
T675I |
probably benign |
Het |
Plxna2 |
G |
A |
1: 194,444,758 (GRCm39) |
V717I |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,975,979 (GRCm39) |
L2P |
possibly damaging |
Het |
Rarg |
A |
G |
15: 102,147,980 (GRCm39) |
F277S |
probably damaging |
Het |
Rassf5 |
A |
T |
1: 131,140,076 (GRCm39) |
I161N |
probably damaging |
Het |
Resf1 |
C |
T |
6: 149,230,902 (GRCm39) |
T1316I |
probably benign |
Het |
Rxfp4 |
A |
G |
3: 88,559,659 (GRCm39) |
V264A |
probably benign |
Het |
Serpinb9c |
T |
C |
13: 33,334,218 (GRCm39) |
I275V |
probably benign |
Het |
Slc2a12 |
T |
C |
10: 22,541,141 (GRCm39) |
V332A |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,285,113 (GRCm39) |
S127G |
probably damaging |
Het |
Slc7a4 |
A |
T |
16: 17,393,568 (GRCm39) |
V77E |
probably damaging |
Het |
Sp8 |
G |
A |
12: 118,812,964 (GRCm39) |
S273N |
possibly damaging |
Het |
Spag6l |
G |
T |
16: 16,580,921 (GRCm39) |
N475K |
probably benign |
Het |
St18 |
A |
G |
1: 6,872,913 (GRCm39) |
H216R |
probably benign |
Het |
Tcirg1 |
C |
T |
19: 3,952,843 (GRCm39) |
|
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,658,788 (GRCm39) |
Y87C |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,726 (GRCm39) |
V713A |
possibly damaging |
Het |
Tnrc6b |
G |
T |
15: 80,765,363 (GRCm39) |
R955L |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,727,012 (GRCm39) |
V1153A |
probably damaging |
Het |
Tshz3 |
T |
C |
7: 36,468,800 (GRCm39) |
L263S |
probably damaging |
Het |
Tubb6 |
G |
A |
18: 67,534,391 (GRCm39) |
|
probably null |
Het |
Ube3a |
T |
C |
7: 58,926,127 (GRCm39) |
W302R |
probably damaging |
Het |
Vcpkmt |
A |
T |
12: 69,629,519 (GRCm39) |
V81E |
probably damaging |
Het |
Vmn1r175 |
T |
A |
7: 23,508,466 (GRCm39) |
I54F |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,258,075 (GRCm39) |
N741K |
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,033,176 (GRCm39) |
T1034A |
probably benign |
Het |
Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
Zfp207 |
T |
A |
11: 80,286,253 (GRCm39) |
Y424* |
probably null |
Het |
Zfp729a |
A |
G |
13: 67,767,676 (GRCm39) |
V851A |
probably benign |
Het |
Zkscan1 |
G |
T |
5: 138,099,625 (GRCm39) |
A450S |
probably benign |
Het |
Zkscan3 |
A |
G |
13: 21,580,616 (GRCm39) |
V24A |
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 |
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 |
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'- GCTTGGAACCGTCGGAAATG -3'
|
Posted On |
2014-07-14 |