Incidental Mutation 'R7104:Secisbp2'
ID |
551072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2
|
Ensembl Gene |
ENSMUSG00000035139 |
Gene Name |
SECIS binding protein 2 |
Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
MMRRC Submission |
045196-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R7104 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 51810943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 202
(K202*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
[ENSMUST00000110044]
|
AlphaFold |
Q3U1C4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040117
AA Change: K202*
|
SMART Domains |
Protein: ENSMUSP00000045740 Gene: ENSMUSG00000035139 AA Change: K202*
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 null
Transcript: ENSMUST00000110044
AA Change: K202*
|
SMART Domains |
Protein: ENSMUSP00000105671 Gene: ENSMUSG00000035139 AA Change: K202*
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl2 |
A |
G |
2: 90,627,891 (GRCm39) |
E232G |
probably damaging |
Het |
Atf7 |
A |
G |
15: 102,442,670 (GRCm39) |
S480P |
probably benign |
Het |
Cdk14 |
A |
G |
5: 5,245,325 (GRCm39) |
I166T |
possibly damaging |
Het |
Cdk5rap2 |
G |
T |
4: 70,267,393 (GRCm39) |
F358L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,223,928 (GRCm39) |
L897P |
possibly damaging |
Het |
Cytip |
A |
G |
2: 58,049,986 (GRCm39) |
S28P |
probably benign |
Het |
Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,171,159 (GRCm39) |
C480S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,785,711 (GRCm39) |
D189G |
probably damaging |
Het |
Engase |
G |
A |
11: 118,372,121 (GRCm39) |
V138M |
probably damaging |
Het |
Esyt3 |
C |
A |
9: 99,220,840 (GRCm39) |
R121L |
probably damaging |
Het |
Frem1 |
T |
G |
4: 82,858,918 (GRCm39) |
I1516L |
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,258,724 (GRCm39) |
I249N |
probably damaging |
Het |
Grk6 |
T |
C |
13: 55,602,219 (GRCm39) |
S383P |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
Hipk2 |
A |
G |
6: 38,795,579 (GRCm39) |
L230P |
probably damaging |
Het |
Hivep1 |
A |
T |
13: 42,310,814 (GRCm39) |
Q1018L |
probably benign |
Het |
Itgad |
T |
C |
7: 127,797,550 (GRCm39) |
F927S |
probably benign |
Het |
Itgb3bp |
A |
G |
4: 99,702,335 (GRCm39) |
V3A |
probably damaging |
Het |
Kcnh7 |
G |
T |
2: 62,618,031 (GRCm39) |
A486D |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,723,522 (GRCm39) |
T318A |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,818,377 (GRCm39) |
F77S |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,708 (GRCm39) |
L203* |
probably null |
Het |
Nos1 |
T |
A |
5: 118,085,496 (GRCm39) |
C1275S |
probably damaging |
Het |
Or14a256 |
T |
C |
7: 86,264,900 (GRCm39) |
S318G |
probably null |
Het |
Or4a69 |
A |
G |
2: 89,313,458 (GRCm39) |
V7A |
possibly damaging |
Het |
Or5an9 |
T |
C |
19: 12,187,242 (GRCm39) |
I104T |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,716 (GRCm39) |
T216A |
possibly damaging |
Het |
Or5j3 |
T |
A |
2: 86,128,564 (GRCm39) |
S135T |
probably benign |
Het |
Or8b12b |
A |
T |
9: 37,684,437 (GRCm39) |
N161Y |
possibly damaging |
Het |
Pip4k2b |
T |
C |
11: 97,623,542 (GRCm39) |
M67V |
possibly damaging |
Het |
Polq |
C |
A |
16: 36,909,715 (GRCm39) |
Y2366* |
probably null |
Het |
Prg3 |
T |
C |
2: 84,819,097 (GRCm39) |
S8P |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,962,952 (GRCm39) |
L17* |
probably null |
Het |
Prl8a8 |
A |
T |
13: 27,695,479 (GRCm39) |
S51R |
probably damaging |
Het |
Pttg1 |
G |
C |
11: 43,311,976 (GRCm39) |
P160A |
probably benign |
Het |
Rbfox1 |
C |
A |
16: 7,170,867 (GRCm39) |
R276S |
possibly damaging |
Het |
Rnase2a |
T |
G |
14: 51,492,988 (GRCm39) |
M126L |
probably benign |
Het |
Sema6c |
A |
G |
3: 95,076,156 (GRCm39) |
H236R |
possibly damaging |
Het |
Septin12 |
A |
G |
16: 4,809,857 (GRCm39) |
L181P |
probably damaging |
Het |
Shc3 |
A |
T |
13: 51,585,241 (GRCm39) |
V458D |
possibly damaging |
Het |
Tecta |
A |
G |
9: 42,278,239 (GRCm39) |
Y1090H |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,379,429 (GRCm39) |
N998K |
|
Het |
Tmem131l |
A |
T |
3: 83,826,766 (GRCm39) |
S1184T |
possibly damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,647,887 (GRCm39) |
D251G |
probably damaging |
Het |
Ttyh3 |
T |
C |
5: 140,615,540 (GRCm39) |
E348G |
probably benign |
Het |
Unc5c |
T |
C |
3: 141,439,665 (GRCm39) |
L186P |
probably damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,219,045 (GRCm39) |
N446K |
probably damaging |
Het |
Vmn2r63 |
T |
C |
7: 42,577,959 (GRCm39) |
D193G |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,262,376 (GRCm39) |
M121K |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,651,253 (GRCm39) |
D189G |
|
Het |
Vwc2l |
C |
A |
1: 70,768,252 (GRCm39) |
C105* |
probably null |
Het |
Wdr72 |
T |
A |
9: 74,055,597 (GRCm39) |
D275E |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,467,549 (GRCm39) |
D2594V |
probably damaging |
Het |
Zfp174 |
C |
T |
16: 3,672,269 (GRCm39) |
H273Y |
probably benign |
Het |
Zwilch |
A |
G |
9: 64,068,658 (GRCm39) |
S203P |
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 |
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 |
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'- GTATCCAGTGCTGCTACAGTG -3'
(R):5'- ACAGACAGGCCCTTCTACTC -3'
Sequencing Primer
(F):5'- CAGTGCTGCTACAGTGAGCAG -3'
(R):5'- TACCATATCTGCGACGGGCTTG -3'
|
Posted On |
2019-05-15 |