Incidental Mutation 'R7986:Secisbp2'
| ID |
651500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Secisbp2
|
| Ensembl Gene |
ENSMUSG00000035139 |
| Gene Name |
SECIS binding protein 2 |
| Synonyms |
SBP2, 2810012K13Rik, 2210413N07Rik |
| MMRRC Submission |
046027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R7986 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
51805733-51838080 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51819395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 325
(I325T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040117]
[ENSMUST00000110044]
|
| AlphaFold |
Q3U1C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040117
AA Change: I325T
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: I325T
| 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 damaging
Transcript: ENSMUST00000110044
AA Change: I325T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105671
Gene: ENSMUSG00000035139
AA Change: I325T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154202
|
| Meta Mutation Damage Score |
0.0907 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
G |
T |
16: 85,596,435 (GRCm39) |
A401D |
probably damaging |
Het |
| Akap10 |
C |
T |
11: 61,820,890 (GRCm39) |
G5R |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,867,967 (GRCm39) |
L1023W |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,799,650 (GRCm39) |
N339S |
probably benign |
Het |
| Btbd17 |
A |
G |
11: 114,683,341 (GRCm39) |
Y124H |
probably damaging |
Het |
| Cacna1a |
C |
G |
8: 85,365,408 (GRCm39) |
R2184G |
probably benign |
Het |
| Cavin1 |
A |
G |
11: 100,861,102 (GRCm39) |
I64T |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,106 (GRCm39) |
H9R |
possibly damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,845,461 (GRCm39) |
L1202P |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,596,048 (GRCm39) |
I794V |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,511,674 (GRCm39) |
|
probably null |
Het |
| Col6a2 |
A |
G |
10: 76,450,972 (GRCm39) |
L23P |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,904 (GRCm39) |
H324R |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,096 (GRCm39) |
S627P |
probably damaging |
Het |
| Dffb |
G |
A |
4: 154,054,504 (GRCm39) |
S195F |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,337,097 (GRCm39) |
Y219N |
probably damaging |
Het |
| Gm29106 |
A |
T |
1: 118,128,000 (GRCm39) |
H564L |
possibly damaging |
Het |
| Gpt2 |
T |
A |
8: 86,235,839 (GRCm39) |
C158* |
probably null |
Het |
| Grin1 |
G |
T |
2: 25,185,841 (GRCm39) |
A872D |
probably damaging |
Het |
| Hoxa1 |
T |
C |
6: 52,135,018 (GRCm39) |
S62G |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,651 (GRCm39) |
N397D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Llgl1 |
G |
T |
11: 60,602,221 (GRCm39) |
A755S |
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,603,448 (GRCm39) |
E141G |
possibly damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,462,890 (GRCm39) |
T910S |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,687,283 (GRCm39) |
Y55C |
probably damaging |
Het |
| Nek10 |
A |
C |
14: 15,001,020 (GRCm38) |
S1067R |
probably benign |
Het |
| Nemp2 |
C |
T |
1: 52,669,981 (GRCm39) |
A22V |
probably benign |
Het |
| Npy2r |
T |
A |
3: 82,448,803 (GRCm39) |
|
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,290,634 (GRCm39) |
S469T |
possibly damaging |
Het |
| Nr4a3 |
T |
C |
4: 48,055,954 (GRCm39) |
Y327H |
probably damaging |
Het |
| Or10ag52 |
A |
G |
2: 87,043,922 (GRCm39) |
I229V |
probably benign |
Het |
| Or5an1b |
C |
T |
19: 12,300,102 (GRCm39) |
V30I |
probably benign |
Het |
| Pramel26 |
A |
T |
4: 143,538,590 (GRCm39) |
L127* |
probably null |
Het |
| Prss1l |
T |
C |
6: 41,373,058 (GRCm39) |
I110T |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,746,046 (GRCm39) |
A118V |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,535,445 (GRCm39) |
Y73C |
|
Het |
| Rtl1 |
A |
G |
12: 109,558,492 (GRCm39) |
S1116P |
possibly damaging |
Het |
| Setd5 |
T |
C |
6: 113,105,418 (GRCm39) |
S817P |
probably benign |
Het |
| Sirt6 |
A |
G |
10: 81,458,344 (GRCm39) |
L303P |
probably benign |
Het |
| Slc46a2 |
G |
T |
4: 59,911,858 (GRCm39) |
F451L |
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,353,449 (GRCm39) |
I219F |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,308,273 (GRCm39) |
I223V |
possibly damaging |
Het |
| Trps1 |
T |
G |
15: 50,525,132 (GRCm39) |
T933P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,753,019 (GRCm39) |
F16S |
probably benign |
Het |
| Virma |
T |
A |
4: 11,540,023 (GRCm39) |
S1447R |
probably benign |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,119 (GRCm39) |
Y103H |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ybx3 |
T |
A |
6: 131,356,362 (GRCm39) |
R170* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,506,978 (GRCm39) |
D1122G |
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 |
|
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 |
|
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'- CACCACCCAGCTGATATAGTCG -3'
(R):5'- CCATGACGTTCAATCATCTTATTGC -3'
Sequencing Primer
(F):5'- ACCCAGCTGATATAGTCGTTTTTG -3'
(R):5'- AAGGATTCACTATGTGGCCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation