Incidental Mutation 'R6888:Secisbp2'
| ID |
537068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Secisbp2
|
| Ensembl Gene |
ENSMUSG00000035139 |
| Gene Name |
SECIS binding protein 2 |
| Synonyms |
SBP2, 2210413N07Rik, 2810012K13Rik |
| MMRRC Submission |
044982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
51651697-51684044 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51679941 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 706
(T706A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
|
| AlphaFold |
Q3U1C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040117
AA Change: T706A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: T706A
| 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: 99.4%
- 20x: 98.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
T |
C |
11: 120,347,315 (GRCm38) |
Y190C |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,508,669 (GRCm38) |
I2902T |
probably damaging |
Het |
| AI429214 |
G |
A |
8: 36,993,833 (GRCm38) |
G45D |
possibly damaging |
Het |
| Ambra1 |
A |
G |
2: 91,769,027 (GRCm38) |
D164G |
probably damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,408,791 (GRCm38) |
Q184L |
probably benign |
Het |
| Arhgef17 |
T |
C |
7: 100,930,820 (GRCm38) |
D307G |
possibly damaging |
Het |
| AY761185 |
A |
T |
8: 20,944,555 (GRCm38) |
Y52* |
probably null |
Het |
| Bfsp1 |
A |
G |
2: 143,826,719 (GRCm38) |
S647P |
probably benign |
Het |
| C130073F10Rik |
A |
G |
4: 101,890,256 (GRCm38) |
V192A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,459,207 (GRCm38) |
D604V |
probably benign |
Het |
| Ccdc170 |
T |
C |
10: 4,546,854 (GRCm38) |
V458A |
possibly damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,289,734 (GRCm38) |
R238W |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 106,658,314 (GRCm38) |
S380G |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,916,192 (GRCm38) |
H4R |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,313,730 (GRCm38) |
|
probably null |
Het |
| Cstpp1 |
A |
G |
2: 91,421,894 (GRCm38) |
Y41H |
probably damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,776,992 (GRCm38) |
V219A |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,817,139 (GRCm38) |
I266F |
probably benign |
Het |
| Dut |
A |
G |
2: 125,257,124 (GRCm38) |
D177G |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,857,076 (GRCm38) |
I331V |
probably benign |
Het |
| Gm11110 |
A |
G |
17: 57,102,143 (GRCm38) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 111,358,353 (GRCm38) |
G575V |
possibly damaging |
Het |
| Heatr3 |
A |
G |
8: 88,170,884 (GRCm38) |
Y531C |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,982,480 (GRCm38) |
V122A |
probably benign |
Het |
| Igsf21 |
T |
C |
4: 140,034,743 (GRCm38) |
D208G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,811,310 (GRCm38) |
Y1915H |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,262,492 (GRCm38) |
D205E |
probably damaging |
Het |
| Limch1 |
C |
T |
5: 67,021,926 (GRCm38) |
T713I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,471,126 (GRCm38) |
I555T |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,524,141 (GRCm38) |
F448I |
probably damaging |
Het |
| Marchf6 |
T |
C |
15: 31,459,233 (GRCm38) |
K896E |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,613,249 (GRCm38) |
Y469C |
possibly damaging |
Het |
| Niban3 |
G |
T |
8: 71,603,739 (GRCm38) |
R361L |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,383,335 (GRCm38) |
V1060A |
possibly damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,456,542 (GRCm38) |
I406T |
probably damaging |
Het |
| Odf2l |
T |
C |
3: 145,148,618 (GRCm38) |
|
probably null |
Het |
| Or2y15 |
A |
T |
11: 49,460,260 (GRCm38) |
T194S |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 88,050,264 (GRCm38) |
M120T |
probably damaging |
Het |
| Pals2 |
T |
G |
6: 50,180,277 (GRCm38) |
|
probably null |
Het |
| Pbx2 |
A |
G |
17: 34,594,107 (GRCm38) |
Y119C |
possibly damaging |
Het |
| Pdcd6ip |
C |
A |
9: 113,671,837 (GRCm38) |
A526S |
probably benign |
Het |
| Prx |
G |
A |
7: 27,519,634 (GRCm38) |
D1187N |
possibly damaging |
Het |
| Ptpro |
G |
A |
6: 137,380,200 (GRCm38) |
V230I |
probably benign |
Het |
| Rtn3 |
C |
T |
19: 7,457,249 (GRCm38) |
M440I |
probably benign |
Het |
| Sar1b |
T |
C |
11: 51,788,192 (GRCm38) |
I96T |
probably damaging |
Het |
| Sds |
T |
C |
5: 120,480,900 (GRCm38) |
|
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,693,824 (GRCm38) |
M433L |
possibly damaging |
Het |
| Sppl2a |
A |
G |
2: 126,904,992 (GRCm38) |
V472A |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,271,588 (GRCm38) |
E1258G |
possibly damaging |
Het |
| Tbxas1 |
C |
A |
6: 38,952,074 (GRCm38) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,696,246 (GRCm38) |
I1333T |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,499,716 (GRCm38) |
G178D |
probably damaging |
Het |
| Tmem174 |
A |
G |
13: 98,637,061 (GRCm38) |
L87P |
probably damaging |
Het |
| Tmppe |
T |
A |
9: 114,404,701 (GRCm38) |
S23T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,761,103 (GRCm38) |
T21074I |
probably benign |
Het |
| Tub |
A |
G |
7: 109,029,298 (GRCm38) |
M338V |
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,872,106 (GRCm38) |
R295* |
probably null |
Het |
| Vps52 |
T |
C |
17: 33,963,206 (GRCm38) |
V518A |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 111,451,043 (GRCm38) |
V909A |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,948,781 (GRCm38) |
T1241A |
probably benign |
Het |
| Zfp882 |
G |
A |
8: 71,914,286 (GRCm38) |
C319Y |
probably benign |
Het |
| Znfx1 |
A |
T |
2: 167,038,940 (GRCm38) |
I308N |
possibly damaging |
Het |
|
| Other mutations in Secisbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Secisbp2
|
APN |
13 |
51,676,455 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01316:Secisbp2
|
APN |
13 |
51,654,516 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02576:Secisbp2
|
APN |
13 |
51,670,858 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02630:Secisbp2
|
APN |
13 |
51,678,906 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL02645:Secisbp2
|
APN |
13 |
51,682,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03107:Secisbp2
|
APN |
13 |
51,652,757 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0208:Secisbp2
|
UTSW |
13 |
51,679,845 (GRCm38) |
missense |
probably benign |
0.26 |
|
R0453:Secisbp2
|
UTSW |
13 |
51,683,325 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1220:Secisbp2
|
UTSW |
13 |
51,656,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1278:Secisbp2
|
UTSW |
13 |
51,654,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1439:Secisbp2
|
UTSW |
13 |
51,679,723 (GRCm38) |
splice site |
probably benign |
|
|
R1514:Secisbp2
|
UTSW |
13 |
51,682,095 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1568:Secisbp2
|
UTSW |
13 |
51,673,107 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1724:Secisbp2
|
UTSW |
13 |
51,670,846 (GRCm38) |
missense |
probably benign |
|
|
R2851:Secisbp2
|
UTSW |
13 |
51,654,635 (GRCm38) |
splice site |
probably null |
|
|
R2967:Secisbp2
|
UTSW |
13 |
51,670,879 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3156:Secisbp2
|
UTSW |
13 |
51,662,675 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4393:Secisbp2
|
UTSW |
13 |
51,654,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4719:Secisbp2
|
UTSW |
13 |
51,652,732 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4953:Secisbp2
|
UTSW |
13 |
51,682,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5183:Secisbp2
|
UTSW |
13 |
51,665,424 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5432:Secisbp2
|
UTSW |
13 |
51,673,966 (GRCm38) |
small deletion |
probably benign |
|
|
R5696:Secisbp2
|
UTSW |
13 |
51,679,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6007:Secisbp2
|
UTSW |
13 |
51,665,359 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6066:Secisbp2
|
UTSW |
13 |
51,677,222 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6076:Secisbp2
|
UTSW |
13 |
51,679,777 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6164:Secisbp2
|
UTSW |
13 |
51,679,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6346:Secisbp2
|
UTSW |
13 |
51,679,887 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6367:Secisbp2
|
UTSW |
13 |
51,682,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6790:Secisbp2
|
UTSW |
13 |
51,670,903 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7095:Secisbp2
|
UTSW |
13 |
51,677,254 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7104:Secisbp2
|
UTSW |
13 |
51,656,907 (GRCm38) |
nonsense |
probably null |
|
|
R7261:Secisbp2
|
UTSW |
13 |
51,682,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7717:Secisbp2
|
UTSW |
13 |
51,673,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7986:Secisbp2
|
UTSW |
13 |
51,665,359 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8021:Secisbp2
|
UTSW |
13 |
51,665,628 (GRCm38) |
makesense |
probably null |
|
|
R8496:Secisbp2
|
UTSW |
13 |
51,665,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8755:Secisbp2
|
UTSW |
13 |
51,679,833 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8757:Secisbp2
|
UTSW |
13 |
51,679,833 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8758:Secisbp2
|
UTSW |
13 |
51,679,833 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8759:Secisbp2
|
UTSW |
13 |
51,679,833 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8833:Secisbp2
|
UTSW |
13 |
51,665,316 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8878:Secisbp2
|
UTSW |
13 |
51,683,368 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9153:Secisbp2
|
UTSW |
13 |
51,679,819 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9295:Secisbp2
|
UTSW |
13 |
51,654,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9528:Secisbp2
|
UTSW |
13 |
51,656,943 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R9562:Secisbp2
|
UTSW |
13 |
51,683,284 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGATGCTTGTGTCACGG -3'
(R):5'- TACTACAGCTTACGGCAGGC -3'
Sequencing Primer
(F):5'- TGTCACGGGTCTGCTCAAG -3'
(R):5'- CTACCCTGTCATCAGAGGAAGAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation