Incidental Mutation 'R6790:Secisbp2'
| ID |
532562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Secisbp2
|
| Ensembl Gene |
ENSMUSG00000035139 |
| Gene Name |
SECIS binding protein 2 |
| Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
| MMRRC Submission |
044903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6790 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51824939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 396
(T396A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
[ENSMUST00000110044]
|
| AlphaFold |
Q3U1C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040117
AA Change: T396A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: T396A
| 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: ENSMUST00000110044
|
| SMART Domains |
Protein: ENSMUSP00000105671
Gene: ENSMUSG00000035139
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (32/32) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
A |
4: 155,987,448 (GRCm39) |
S457T |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,401,385 (GRCm39) |
V881A |
probably benign |
Het |
| Ankrd65 |
T |
G |
4: 155,877,260 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
G |
10: 50,521,808 (GRCm39) |
E441G |
probably damaging |
Het |
| Atf5 |
A |
T |
7: 44,462,679 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
G |
T |
8: 46,623,113 (GRCm39) |
V168L |
possibly damaging |
Het |
| Crh |
T |
G |
3: 19,748,459 (GRCm39) |
E61A |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,833 (GRCm39) |
V190M |
probably damaging |
Het |
| Cyp3a59 |
A |
C |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,223,079 (GRCm39) |
K445R |
probably damaging |
Het |
| Eng |
C |
A |
2: 32,559,457 (GRCm39) |
T82N |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,222,996 (GRCm39) |
T968A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,283 (GRCm39) |
N5672S |
possibly damaging |
Het |
| Gm21149 |
A |
C |
5: 15,677,103 (GRCm39) |
D250E |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,766,305 (GRCm39) |
E448G |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,236,382 (GRCm39) |
S2207P |
unknown |
Het |
| Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,309,698 (GRCm39) |
K954E |
probably damaging |
Het |
| Lrrc20 |
G |
T |
10: 61,362,898 (GRCm39) |
V48F |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,235 (GRCm39) |
I915V |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,260 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,142,304 (GRCm39) |
T247A |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,427 (GRCm39) |
L104H |
probably damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,127 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,373,261 (GRCm39) |
V176I |
probably benign |
Het |
| Pira2 |
A |
C |
7: 3,845,442 (GRCm39) |
V314G |
probably damaging |
Het |
| Potefam3e |
A |
T |
8: 19,779,801 (GRCm39) |
I14F |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,507,278 (GRCm39) |
D624G |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,730,464 (GRCm39) |
D84G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,206 (GRCm39) |
T538A |
probably benign |
Het |
| Slk |
T |
A |
19: 47,624,007 (GRCm39) |
C991S |
probably damaging |
Het |
| Stmn1 |
T |
C |
4: 134,198,125 (GRCm39) |
L54S |
probably damaging |
Het |
| Tuft1 |
C |
G |
3: 94,535,537 (GRCm39) |
E128D |
possibly damaging |
Het |
| Ugt8a |
T |
C |
3: 125,665,340 (GRCm39) |
T386A |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,600 (GRCm39) |
V13A |
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 |
|
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 |
|
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'- ACATGAGTTCTGTATGTACACCTG -3'
(R):5'- AAACTACAGCCAGTTCTCTCTG -3'
Sequencing Primer
(F):5'- GTATGTACACCTGCATGCCAG -3'
(R):5'- CTTCAAAACTCTGTGGAGCTAAGGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation