Incidental Mutation 'R6888:Secisbp2'
ID |
537068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2
|
Ensembl Gene |
ENSMUSG00000035139 |
Gene Name |
SECIS binding protein 2 |
Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
MMRRC Submission |
044982-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R6888 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51833977 bp (GRCm39)
|
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: 120,238,141 (GRCm39) |
Y190C |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,656,788 (GRCm39) |
I2902T |
probably damaging |
Het |
AI429214 |
G |
A |
8: 37,460,987 (GRCm39) |
G45D |
possibly damaging |
Het |
Ambra1 |
A |
G |
2: 91,599,372 (GRCm39) |
D164G |
probably damaging |
Het |
Ap3b1 |
A |
T |
13: 94,545,299 (GRCm39) |
Q184L |
probably benign |
Het |
Arhgef17 |
T |
C |
7: 100,580,027 (GRCm39) |
D307G |
possibly damaging |
Het |
AY761185 |
A |
T |
8: 21,434,571 (GRCm39) |
Y52* |
probably null |
Het |
Bfsp1 |
A |
G |
2: 143,668,639 (GRCm39) |
S647P |
probably benign |
Het |
C130073F10Rik |
A |
G |
4: 101,747,453 (GRCm39) |
V192A |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
Ccdc170 |
T |
C |
10: 4,496,854 (GRCm39) |
V458A |
possibly damaging |
Het |
Ccdc187 |
G |
A |
2: 26,179,746 (GRCm39) |
R238W |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,384,946 (GRCm39) |
S380G |
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,807,018 (GRCm39) |
H4R |
probably benign |
Het |
Cftr |
G |
A |
6: 18,313,729 (GRCm39) |
|
probably null |
Het |
Cstpp1 |
A |
G |
2: 91,252,239 (GRCm39) |
Y41H |
probably damaging |
Het |
Dnajc16 |
A |
G |
4: 141,504,303 (GRCm39) |
V219A |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,637,502 (GRCm39) |
I266F |
probably benign |
Het |
Dut |
A |
G |
2: 125,099,044 (GRCm39) |
D177G |
probably benign |
Het |
Esr1 |
A |
G |
10: 4,807,076 (GRCm39) |
I331V |
probably benign |
Het |
Gm11110 |
A |
G |
17: 57,409,143 (GRCm39) |
|
probably benign |
Het |
Grm7 |
G |
T |
6: 111,335,314 (GRCm39) |
G575V |
possibly damaging |
Het |
Heatr3 |
A |
G |
8: 88,897,512 (GRCm39) |
Y531C |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,910,218 (GRCm39) |
V122A |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,949,373 (GRCm39) |
Y1915H |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,138,238 (GRCm39) |
D205E |
probably damaging |
Het |
Limch1 |
C |
T |
5: 67,179,269 (GRCm39) |
T713I |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,361,138 (GRCm39) |
I555T |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,354,485 (GRCm39) |
F448I |
probably damaging |
Het |
Marchf6 |
T |
C |
15: 31,459,379 (GRCm39) |
K896E |
probably benign |
Het |
Mroh4 |
T |
C |
15: 74,485,098 (GRCm39) |
Y469C |
possibly damaging |
Het |
Niban3 |
G |
T |
8: 72,056,383 (GRCm39) |
R361L |
probably benign |
Het |
Nos3 |
T |
C |
5: 24,588,333 (GRCm39) |
V1060A |
possibly damaging |
Het |
Nr1h4 |
A |
G |
10: 89,292,404 (GRCm39) |
I406T |
probably damaging |
Het |
Odf2l |
T |
C |
3: 144,854,379 (GRCm39) |
|
probably null |
Het |
Or2y15 |
A |
T |
11: 49,351,087 (GRCm39) |
T194S |
probably damaging |
Het |
Or5d14 |
A |
G |
2: 87,880,608 (GRCm39) |
M120T |
probably damaging |
Het |
Pals2 |
T |
G |
6: 50,157,257 (GRCm39) |
|
probably null |
Het |
Pbx2 |
A |
G |
17: 34,813,081 (GRCm39) |
Y119C |
possibly damaging |
Het |
Pdcd6ip |
C |
A |
9: 113,500,905 (GRCm39) |
A526S |
probably benign |
Het |
Prx |
G |
A |
7: 27,219,059 (GRCm39) |
D1187N |
possibly damaging |
Het |
Ptpro |
G |
A |
6: 137,357,198 (GRCm39) |
V230I |
probably benign |
Het |
Rtn3 |
C |
T |
19: 7,434,614 (GRCm39) |
M440I |
probably benign |
Het |
Sar1b |
T |
C |
11: 51,679,019 (GRCm39) |
I96T |
probably damaging |
Het |
Sds |
T |
C |
5: 120,618,965 (GRCm39) |
|
probably null |
Het |
Sorcs3 |
A |
T |
19: 48,682,263 (GRCm39) |
M433L |
possibly damaging |
Het |
Sppl2a |
A |
G |
2: 126,746,912 (GRCm39) |
V472A |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,998,217 (GRCm39) |
E1258G |
possibly damaging |
Het |
Tbxas1 |
C |
A |
6: 38,929,008 (GRCm39) |
|
probably benign |
Het |
Tg |
T |
C |
15: 66,568,095 (GRCm39) |
I1333T |
probably damaging |
Het |
Tmem108 |
C |
T |
9: 103,376,915 (GRCm39) |
G178D |
probably damaging |
Het |
Tmem174 |
A |
G |
13: 98,773,569 (GRCm39) |
L87P |
probably damaging |
Het |
Tmppe |
T |
A |
9: 114,233,769 (GRCm39) |
S23T |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,591,447 (GRCm39) |
T21074I |
probably benign |
Het |
Tub |
A |
G |
7: 108,628,505 (GRCm39) |
M338V |
probably null |
Het |
Vmn1r160 |
A |
T |
7: 22,571,531 (GRCm39) |
R295* |
probably null |
Het |
Vps52 |
T |
C |
17: 34,182,180 (GRCm39) |
V518A |
probably benign |
Het |
Wdr59 |
A |
G |
8: 112,177,675 (GRCm39) |
V909A |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,925,742 (GRCm39) |
T1241A |
probably benign |
Het |
Zfp882 |
G |
A |
8: 72,668,130 (GRCm39) |
C319Y |
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,880,860 (GRCm39) |
I308N |
possibly 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 |
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 |
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'- AGTAGATGCTTGTGTCACGG -3'
(R):5'- TACTACAGCTTACGGCAGGC -3'
Sequencing Primer
(F):5'- TGTCACGGGTCTGCTCAAG -3'
(R):5'- CTACCCTGTCATCAGAGGAAGAG -3'
|
Posted On |
2018-10-18 |