Incidental Mutation 'R7717:Secisbp2'
ID |
594991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2
|
Ensembl Gene |
ENSMUSG00000035139 |
Gene Name |
SECIS binding protein 2 |
Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R7717 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51827134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 414
(V414A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
|
AlphaFold |
Q3U1C4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040117
AA Change: V414A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000045740 Gene: ENSMUSG00000035139 AA Change: V414A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
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 |
|
R2851:Secisbp2
|
UTSW |
13 |
51,808,671 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
PCR Primer
(F):5'- TTCTCTGTGATAACTCCAGCTG -3'
(R):5'- CTTAATAGGGACTCAGCTGCTCTC -3'
Sequencing Primer
(F):5'- CTGTGATAACTCCAGCTGTGTCAAG -3'
(R):5'- GCTCTCCCTAGATGAAATCCCTAGG -3'
|
Posted On |
2019-11-12 |