Incidental Mutation 'R6367:Secisbp2'
| ID |
512757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Secisbp2
|
| Ensembl Gene |
ENSMUSG00000035139 |
| Gene Name |
SECIS binding protein 2 |
| Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
| MMRRC Submission |
044517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6367 (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 51836177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 757
(Y757C)
|
| 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: Y757C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: Y757C
| 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
|
| Meta Mutation Damage Score |
0.8298 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (44/45) |
| 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 |
|---|
| Abca13 |
A |
G |
11: 9,166,248 (GRCm39) |
N54D |
possibly damaging |
Het |
| Abca4 |
A |
C |
3: 121,897,229 (GRCm39) |
Q636P |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,363,875 (GRCm39) |
F285S |
probably benign |
Het |
| Als2 |
C |
A |
1: 59,238,299 (GRCm39) |
V678L |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,907,586 (GRCm39) |
*231W |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,838,686 (GRCm39) |
T89A |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,486,858 (GRCm39) |
C50S |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,860,167 (GRCm39) |
D1246G |
probably damaging |
Het |
| Dip2b |
A |
T |
15: 100,013,795 (GRCm39) |
Q57L |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,582,951 (GRCm39) |
|
probably null |
Het |
| Enpep |
G |
T |
3: 129,125,730 (GRCm39) |
T134N |
possibly damaging |
Het |
| Ets1 |
C |
T |
9: 32,645,256 (GRCm39) |
Q168* |
probably null |
Het |
| Fanci |
T |
C |
7: 79,075,943 (GRCm39) |
C529R |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,168,599 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
C |
T |
6: 136,686,776 (GRCm39) |
E796K |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,821 (GRCm39) |
W62* |
probably null |
Het |
| Kcng1 |
C |
A |
2: 168,104,572 (GRCm39) |
V425L |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,422 (GRCm39) |
S463P |
probably damaging |
Het |
| Lrba |
G |
C |
3: 86,275,869 (GRCm39) |
A1746P |
probably benign |
Het |
| Mgat4c |
G |
T |
10: 102,221,015 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
G |
A |
15: 103,384,149 (GRCm39) |
M582I |
probably benign |
Het |
| Oacyl |
G |
T |
18: 65,858,515 (GRCm39) |
R207L |
probably damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,937 (GRCm39) |
C185R |
probably damaging |
Het |
| Or2m12 |
C |
T |
16: 19,104,822 (GRCm39) |
V224M |
probably damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,360 (GRCm39) |
I29V |
probably benign |
Het |
| Or51f5 |
C |
A |
7: 102,424,036 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,266,033 (GRCm39) |
A55T |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,016 (GRCm39) |
D208G |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,501,663 (GRCm39) |
D1181G |
probably benign |
Het |
| Safb |
A |
G |
17: 56,900,845 (GRCm39) |
|
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,969,447 (GRCm39) |
Y35F |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,522,013 (GRCm39) |
V97M |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,124,921 (GRCm39) |
Y82C |
probably benign |
Het |
| Svopl |
A |
T |
6: 37,996,614 (GRCm39) |
W288R |
possibly damaging |
Het |
| Tdg |
T |
C |
10: 82,483,822 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Tmem109 |
A |
G |
19: 10,851,727 (GRCm39) |
F53S |
possibly damaging |
Het |
| Tpsab1 |
G |
T |
17: 25,562,448 (GRCm39) |
T293N |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,405 (GRCm39) |
D796G |
probably damaging |
Het |
| Tuba1c |
T |
C |
15: 98,935,334 (GRCm39) |
I265T |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,711,925 (GRCm39) |
V2749A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,623,719 (GRCm39) |
L173P |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wbp2 |
G |
T |
11: 115,974,741 (GRCm39) |
T31N |
probably benign |
Het |
| Wdr1 |
G |
T |
5: 38,703,189 (GRCm39) |
A129D |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably 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 |
|
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'- ATGGGCAGCTGAGCTTATTG -3'
(R):5'- TCAAATGTTTAGGCCCATGGTG -3'
Sequencing Primer
(F):5'- GCAGCTGAGCTTATTGTGATTC -3'
(R):5'- TAGGCCCATGGTGCCTCTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation