Incidental Mutation 'R1278:Secisbp2'
| ID |
150954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Secisbp2
|
| Ensembl Gene |
ENSMUSG00000035139 |
| Gene Name |
SECIS binding protein 2 |
| Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
| MMRRC Submission |
039344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 51808546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 104
(V104F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
[ENSMUST00000075853]
[ENSMUST00000110044]
|
| AlphaFold |
Q3U1C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040117
AA Change: V104F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: V104F
| 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 damaging
Transcript: ENSMUST00000110044
AA Change: V104F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105671
Gene: ENSMUSG00000035139
AA Change: V104F
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,535,470 (GRCm39) |
S747P |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,258,572 (GRCm39) |
Y1063H |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,660 (GRCm39) |
S320P |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,580,095 (GRCm39) |
A622V |
possibly damaging |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,292 (GRCm39) |
V1800A |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,077,015 (GRCm39) |
N276S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,159,005 (GRCm39) |
E3389G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,886 (GRCm39) |
D247G |
probably damaging |
Het |
| Kif20a |
C |
T |
18: 34,759,830 (GRCm39) |
T75I |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,573,122 (GRCm39) |
T626A |
probably benign |
Het |
| Lix1 |
A |
G |
17: 17,647,469 (GRCm39) |
K45R |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Mark4 |
T |
A |
7: 19,165,695 (GRCm39) |
S533C |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,306,067 (GRCm39) |
V1104D |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,870 (GRCm39) |
D551G |
probably damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,340 (GRCm39) |
P58T |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 119,998,951 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 100,299,075 (GRCm39) |
F816S |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,988,947 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,667,374 (GRCm39) |
Y846* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTCCAATGCGAAAGTAAGTGATCCT -3'
(R):5'- CACTGACTTCTGACACTGGCAACAA -3'
Sequencing Primer
(F):5'- TGCGAAAGTAAGTGATCCTTAAAAG -3'
(R):5'- TGACACTGGCAACAAGGACTAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation