Incidental Mutation 'R5521:Secisbp2l'
ID |
431530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
043080-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R5521 (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 125594897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 146
(V146D)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053699]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053699
AA Change: V521D
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: V521D
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 |
possibly damaging
Transcript: ENSMUST00000139944
AA Change: V146D
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121529 Gene: ENSMUSG00000035093 AA Change: V146D
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 |
0.0671 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.5%
- 10x: 94.4%
- 20x: 87.5%
|
Validation Efficiency |
94% (72/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,190,980 (GRCm39) |
|
probably benign |
Het |
Abhd14a |
G |
T |
9: 106,321,033 (GRCm39) |
D107E |
probably damaging |
Het |
Acat1 |
T |
A |
9: 53,494,807 (GRCm39) |
K362* |
probably null |
Het |
Adad2 |
T |
A |
8: 120,339,528 (GRCm39) |
S3R |
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,687,199 (GRCm39) |
R435M |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,567,508 (GRCm39) |
S5222T |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,331,748 (GRCm39) |
M182K |
probably benign |
Het |
Apba1 |
C |
T |
19: 23,870,957 (GRCm39) |
P263L |
probably damaging |
Het |
Arhgap39 |
G |
A |
15: 76,649,694 (GRCm39) |
S26L |
possibly damaging |
Het |
Ccng1 |
G |
A |
11: 40,643,093 (GRCm39) |
T118I |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,974,826 (GRCm39) |
S2329P |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,111,013 (GRCm39) |
Y294H |
possibly damaging |
Het |
Chst8 |
A |
C |
7: 34,374,670 (GRCm39) |
S390A |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,301,710 (GRCm39) |
D308G |
probably benign |
Het |
Dlec1 |
A |
C |
9: 118,972,469 (GRCm39) |
Q1458P |
possibly damaging |
Het |
Dvl2 |
G |
A |
11: 69,897,233 (GRCm39) |
E312K |
probably damaging |
Het |
Fchsd1 |
T |
C |
18: 38,099,537 (GRCm39) |
H219R |
probably damaging |
Het |
Foxd4 |
A |
C |
19: 24,877,007 (GRCm39) |
C398G |
probably damaging |
Het |
Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,536,422 (GRCm39) |
I68V |
probably benign |
Het |
Gmip |
C |
T |
8: 70,270,049 (GRCm39) |
T684I |
probably damaging |
Het |
Gpr137c |
T |
C |
14: 45,516,151 (GRCm39) |
I295T |
possibly damaging |
Het |
Hivep1 |
T |
A |
13: 42,311,804 (GRCm39) |
M1348K |
probably damaging |
Het |
Igkv6-23 |
T |
C |
6: 70,237,597 (GRCm39) |
D48G |
probably benign |
Het |
Il3 |
G |
A |
11: 54,157,958 (GRCm39) |
T40M |
possibly damaging |
Het |
Ing2 |
T |
C |
8: 48,122,248 (GRCm39) |
E100G |
probably damaging |
Het |
Itpr3 |
C |
A |
17: 27,326,308 (GRCm39) |
H1359Q |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,087,889 (GRCm39) |
Y1502* |
probably null |
Het |
Mamdc2 |
C |
A |
19: 23,288,302 (GRCm39) |
G579W |
probably damaging |
Het |
Mapk6 |
G |
A |
9: 75,300,598 (GRCm39) |
|
probably benign |
Het |
Mapk8ip2 |
C |
T |
15: 89,343,007 (GRCm39) |
R616W |
probably damaging |
Het |
Mc5r |
T |
A |
18: 68,472,748 (GRCm39) |
L369H |
possibly damaging |
Het |
Meis1 |
T |
C |
11: 18,938,260 (GRCm39) |
|
probably benign |
Het |
Mmp8 |
A |
G |
9: 7,560,644 (GRCm39) |
K107R |
probably benign |
Het |
Mn1 |
C |
T |
5: 111,569,635 (GRCm39) |
H1202Y |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,291,422 (GRCm39) |
L1172P |
probably damaging |
Het |
Nek9 |
C |
T |
12: 85,374,219 (GRCm39) |
D273N |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,021,190 (GRCm39) |
D559V |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,350,020 (GRCm38) |
|
noncoding transcript |
Het |
Oit3 |
G |
T |
10: 59,271,736 (GRCm39) |
A207E |
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,705,788 (GRCm39) |
M260K |
possibly damaging |
Het |
Or14a257 |
A |
T |
7: 86,137,839 (GRCm39) |
C307S |
probably benign |
Het |
Or4d2b |
A |
T |
11: 87,780,545 (GRCm39) |
M59K |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,577,406 (GRCm39) |
I289V |
probably benign |
Het |
Pde4c |
T |
C |
8: 71,200,031 (GRCm39) |
|
probably null |
Het |
Ppp1r26 |
A |
G |
2: 28,341,438 (GRCm39) |
E356G |
probably benign |
Het |
Pramel13 |
A |
G |
4: 144,122,541 (GRCm39) |
M1T |
probably null |
Het |
Ptges3-ps |
T |
A |
6: 85,821,303 (GRCm39) |
|
noncoding transcript |
Het |
Ptpn13 |
T |
G |
5: 103,649,294 (GRCm39) |
F232L |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,979,982 (GRCm39) |
S114P |
probably damaging |
Het |
Scarf2 |
T |
A |
16: 17,621,466 (GRCm39) |
|
probably null |
Het |
Sdha |
A |
T |
13: 74,498,218 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,873,833 (GRCm39) |
T385S |
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,244,092 (GRCm39) |
T679M |
probably benign |
Het |
Tbc1d14 |
T |
A |
5: 36,677,896 (GRCm39) |
E353V |
probably damaging |
Het |
Thap2 |
T |
A |
10: 115,208,665 (GRCm39) |
K152* |
probably null |
Het |
Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
V1ra8 |
T |
A |
6: 90,180,036 (GRCm39) |
W80R |
probably damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,320,743 (GRCm39) |
Y30C |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,845,049 (GRCm39) |
T804K |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,926 (GRCm39) |
D275E |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,858,721 (GRCm39) |
I2724V |
probably benign |
Het |
Xrcc5 |
C |
A |
1: 72,385,430 (GRCm39) |
P507Q |
probably damaging |
Het |
Zfp120 |
A |
T |
2: 149,959,499 (GRCm39) |
Y274* |
probably null |
Het |
Zfp780b |
C |
A |
7: 27,674,173 (GRCm39) |
|
probably null |
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 |
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'- AAGAAACATCTCCAGACTCGGG -3'
(R):5'- GTTGCCTGACTGCATTGAC -3'
Sequencing Primer
(F):5'- ACATCTCCAGACTCGGGGTTAC -3'
(R):5'- CTCCTTGGGAGGTGAAAGACC -3'
|
Posted On |
2016-10-05 |