Incidental Mutation 'IGL02645:Secisbp2'
| ID |
301928 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51836496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 767
(M767K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
[ENSMUST00000110042]
|
| AlphaFold |
Q3U1C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040117
AA Change: M767K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: M767K
| 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: ENSMUST00000110042
|
| SMART Domains |
Protein: ENSMUSP00000105669
Gene: ENSMUSG00000021451
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
2 |
46 |
2e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153877
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,804 (GRCm39) |
Y48C |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,373,883 (GRCm39) |
M848K |
probably damaging |
Het |
| Apol7c |
A |
T |
15: 77,413,083 (GRCm39) |
S56T |
probably benign |
Het |
| Asic4 |
G |
A |
1: 75,449,998 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,234,777 (GRCm39) |
K162R |
possibly damaging |
Het |
| Car12 |
T |
A |
9: 66,654,961 (GRCm39) |
H130Q |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,111,646 (GRCm39) |
E737G |
probably damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,905,211 (GRCm39) |
R412* |
probably null |
Het |
| Cd36 |
T |
C |
5: 17,990,878 (GRCm39) |
T421A |
probably benign |
Het |
| Clasp2 |
T |
G |
9: 113,719,129 (GRCm39) |
M758R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Ebf4 |
A |
G |
2: 130,203,761 (GRCm39) |
K471E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,173,654 (GRCm39) |
D2353V |
probably damaging |
Het |
| Gm10136 |
A |
G |
19: 28,981,140 (GRCm39) |
|
probably benign |
Het |
| Intu |
A |
G |
3: 40,655,702 (GRCm39) |
I930V |
probably benign |
Het |
| Ndrg2 |
T |
A |
14: 52,143,979 (GRCm39) |
M300L |
possibly damaging |
Het |
| Nhs |
A |
G |
X: 160,942,054 (GRCm39) |
S111P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,844,755 (GRCm39) |
L111F |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,818,947 (GRCm39) |
|
probably null |
Het |
| Or10g1b |
T |
A |
14: 52,627,958 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or12e13 |
C |
T |
2: 87,663,959 (GRCm39) |
T192M |
probably benign |
Het |
| Or4a76 |
T |
C |
2: 89,460,679 (GRCm39) |
T188A |
probably benign |
Het |
| Or4c116 |
T |
C |
2: 88,941,963 (GRCm39) |
R298G |
probably benign |
Het |
| Pcdhac2 |
G |
A |
18: 37,278,292 (GRCm39) |
G424D |
probably damaging |
Het |
| Pex3 |
T |
G |
10: 13,422,173 (GRCm39) |
E42D |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,311 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,312,128 (GRCm39) |
I209N |
probably damaging |
Het |
| Rsl1 |
T |
A |
13: 67,330,273 (GRCm39) |
F240L |
probably benign |
Het |
| Rttn |
A |
T |
18: 89,128,810 (GRCm39) |
I1921F |
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,344,871 (GRCm39) |
F539Y |
probably benign |
Het |
| Sipa1l3 |
C |
T |
7: 29,028,405 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,894,380 (GRCm39) |
N753S |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,080 (GRCm39) |
V28A |
probably damaging |
Het |
| Sympk |
T |
G |
7: 18,786,349 (GRCm39) |
V984G |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,943 (GRCm39) |
D272V |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,477,047 (GRCm39) |
R167G |
probably benign |
Het |
| Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
| Zfp804a |
T |
C |
2: 81,884,220 (GRCm39) |
L29P |
possibly damaging |
Het |
| Zfp94 |
C |
T |
7: 24,003,179 (GRCm39) |
G88R |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation