Incidental Mutation 'R2851:Secisbp2'
ID |
476781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2
|
Ensembl Gene |
ENSMUSG00000035139 |
Gene Name |
SECIS binding protein 2 |
Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
MMRRC Submission |
040444-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R2851 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 51808671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
[ENSMUST00000075853]
[ENSMUST00000110044]
|
AlphaFold |
Q3U1C4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040117
|
SMART Domains |
Protein: ENSMUSP00000045740 Gene: ENSMUSG00000035139
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
low complexity region
|
375 |
389 |
N/A |
INTRINSIC |
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L7Ae
|
662 |
764 |
4.4e-23 |
PFAM |
low complexity region
|
793 |
809 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075853
|
SMART Domains |
Protein: ENSMUSP00000075250 Gene: ENSMUSG00000062248
Domain | Start | End | E-Value | Type |
CKS
|
5 |
74 |
2.41e-45 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110044
|
SMART Domains |
Protein: ENSMUSP00000105671 Gene: ENSMUSG00000035139
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127360
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154202
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (61/62) |
MGI Phenotype |
FUNCTION: The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in a similar gene in human have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality while heterozygotes exhibit reduced serum selenium levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
Ceacam11 |
T |
C |
7: 17,712,451 (GRCm39) |
I300T |
probably benign |
Het |
Cmtm5 |
A |
G |
14: 55,175,512 (GRCm39) |
|
probably benign |
Het |
Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,585,614 (GRCm39) |
N1254K |
probably damaging |
Het |
Crispld2 |
T |
A |
8: 120,740,828 (GRCm39) |
L107Q |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Cyp1b1 |
T |
C |
17: 80,017,649 (GRCm39) |
N502S |
probably benign |
Het |
Cyp51 |
A |
T |
5: 4,149,183 (GRCm39) |
D231E |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
Dscam |
T |
C |
16: 96,423,915 (GRCm39) |
T1677A |
possibly damaging |
Het |
Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,509 (GRCm39) |
D250G |
probably benign |
Het |
Frrs1 |
A |
G |
3: 116,678,778 (GRCm39) |
N200S |
probably benign |
Het |
Fstl5 |
T |
A |
3: 76,337,045 (GRCm39) |
|
probably benign |
Het |
Gmcl1 |
A |
C |
6: 86,703,159 (GRCm39) |
S92A |
probably damaging |
Het |
Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
Il19 |
A |
G |
1: 130,863,694 (GRCm39) |
V99A |
possibly damaging |
Het |
Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
Itgad |
T |
A |
7: 127,803,732 (GRCm39) |
V42E |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
Mfsd4b2 |
T |
A |
10: 39,798,119 (GRCm39) |
S79C |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
Mthfsd |
G |
A |
8: 121,832,512 (GRCm39) |
T60I |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
Nceh1 |
A |
G |
3: 27,295,504 (GRCm39) |
Y255C |
probably damaging |
Het |
Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
Ndufb5 |
T |
C |
3: 32,800,600 (GRCm39) |
F58L |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
A |
11: 58,920,844 (GRCm39) |
|
probably null |
Het |
Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,610,853 (GRCm39) |
E377G |
possibly damaging |
Het |
Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
Ppa2 |
A |
T |
3: 133,026,764 (GRCm39) |
|
probably null |
Het |
Proser1 |
G |
A |
3: 53,387,966 (GRCm39) |
A885T |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,758,776 (GRCm39) |
I665T |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,921,557 (GRCm39) |
T445A |
probably damaging |
Het |
Tdrd12 |
G |
A |
7: 35,184,798 (GRCm39) |
T705M |
probably damaging |
Het |
Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
Timm22 |
G |
A |
11: 76,304,925 (GRCm39) |
A188T |
probably damaging |
Het |
Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
Tmprss12 |
C |
A |
15: 100,180,296 (GRCm39) |
T112K |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,382,735 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
T |
A |
10: 130,230,036 (GRCm39) |
E25D |
probably benign |
Het |
Wdr62 |
A |
T |
7: 29,960,862 (GRCm39) |
N22K |
possibly damaging |
Het |
Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
Other mutations in Secisbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01149:Secisbp2
|
APN |
13 |
51,830,491 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01316:Secisbp2
|
APN |
13 |
51,808,552 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02576:Secisbp2
|
APN |
13 |
51,824,894 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02630:Secisbp2
|
APN |
13 |
51,832,942 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02645:Secisbp2
|
APN |
13 |
51,836,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03107:Secisbp2
|
APN |
13 |
51,806,793 (GRCm39) |
critical splice donor site |
probably null |
|
R0208:Secisbp2
|
UTSW |
13 |
51,833,881 (GRCm39) |
missense |
probably benign |
0.26 |
R0453:Secisbp2
|
UTSW |
13 |
51,837,361 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1220:Secisbp2
|
UTSW |
13 |
51,810,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R1278:Secisbp2
|
UTSW |
13 |
51,808,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Secisbp2
|
UTSW |
13 |
51,833,759 (GRCm39) |
splice site |
probably benign |
|
R1514:Secisbp2
|
UTSW |
13 |
51,836,131 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1568:Secisbp2
|
UTSW |
13 |
51,827,143 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1724:Secisbp2
|
UTSW |
13 |
51,824,882 (GRCm39) |
missense |
probably benign |
|
R2967:Secisbp2
|
UTSW |
13 |
51,824,915 (GRCm39) |
missense |
probably benign |
0.00 |
R3156:Secisbp2
|
UTSW |
13 |
51,816,711 (GRCm39) |
missense |
probably benign |
0.06 |
R4393:Secisbp2
|
UTSW |
13 |
51,808,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4719:Secisbp2
|
UTSW |
13 |
51,806,768 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4953:Secisbp2
|
UTSW |
13 |
51,836,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R5183:Secisbp2
|
UTSW |
13 |
51,819,460 (GRCm39) |
missense |
probably benign |
0.14 |
R5432:Secisbp2
|
UTSW |
13 |
51,828,002 (GRCm39) |
small deletion |
probably benign |
|
R5696:Secisbp2
|
UTSW |
13 |
51,833,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Secisbp2
|
UTSW |
13 |
51,819,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R6066:Secisbp2
|
UTSW |
13 |
51,831,258 (GRCm39) |
missense |
probably benign |
0.00 |
R6076:Secisbp2
|
UTSW |
13 |
51,833,813 (GRCm39) |
missense |
probably damaging |
0.98 |
R6164:Secisbp2
|
UTSW |
13 |
51,833,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6346:Secisbp2
|
UTSW |
13 |
51,833,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R6367:Secisbp2
|
UTSW |
13 |
51,836,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Secisbp2
|
UTSW |
13 |
51,824,939 (GRCm39) |
missense |
probably benign |
0.09 |
R6888:Secisbp2
|
UTSW |
13 |
51,833,977 (GRCm39) |
missense |
probably benign |
0.16 |
R7095:Secisbp2
|
UTSW |
13 |
51,831,290 (GRCm39) |
missense |
probably benign |
0.01 |
R7104:Secisbp2
|
UTSW |
13 |
51,810,943 (GRCm39) |
nonsense |
probably null |
|
R7261:Secisbp2
|
UTSW |
13 |
51,836,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7717:Secisbp2
|
UTSW |
13 |
51,827,134 (GRCm39) |
missense |
probably benign |
0.00 |
R7986:Secisbp2
|
UTSW |
13 |
51,819,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R8021:Secisbp2
|
UTSW |
13 |
51,819,664 (GRCm39) |
makesense |
probably null |
|
R8496:Secisbp2
|
UTSW |
13 |
51,819,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Secisbp2
|
UTSW |
13 |
51,833,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8757:Secisbp2
|
UTSW |
13 |
51,833,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8758:Secisbp2
|
UTSW |
13 |
51,833,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8759:Secisbp2
|
UTSW |
13 |
51,833,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8833:Secisbp2
|
UTSW |
13 |
51,819,352 (GRCm39) |
missense |
probably benign |
0.01 |
R8878:Secisbp2
|
UTSW |
13 |
51,837,404 (GRCm39) |
missense |
probably benign |
0.13 |
R9153:Secisbp2
|
UTSW |
13 |
51,833,855 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9295:Secisbp2
|
UTSW |
13 |
51,808,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9528:Secisbp2
|
UTSW |
13 |
51,810,979 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9562:Secisbp2
|
UTSW |
13 |
51,837,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
|
Posted On |
2017-05-15 |