Incidental Mutation 'R5632:Secisbp2l'
ID |
439900 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
043283-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R5632 (G1)
|
Quality Score |
212 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125582657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 933
(G933D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053699]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053699
AA Change: G933D
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: G933D
Domain | Start | End | E-Value | Type |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L7Ae
|
700 |
802 |
7.6e-24 |
PFAM |
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
low complexity region
|
970 |
978 |
N/A |
INTRINSIC |
low complexity region
|
985 |
996 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139944
|
SMART Domains |
Protein: ENSMUSP00000121529 Gene: ENSMUSG00000035093
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L7Ae
|
326 |
427 |
3.5e-24 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
C |
12: 84,664,076 (GRCm39) |
T7A |
probably benign |
Het |
Adam33 |
T |
G |
2: 130,895,362 (GRCm39) |
D619A |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,469,276 (GRCm39) |
T212A |
probably benign |
Het |
Aldh3b3 |
C |
T |
19: 4,018,522 (GRCm39) |
|
probably benign |
Het |
Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
Arhgef40 |
C |
A |
14: 52,231,795 (GRCm39) |
T727K |
probably damaging |
Het |
Arrdc1 |
T |
C |
2: 24,817,840 (GRCm39) |
T43A |
probably benign |
Het |
Bcl2l15 |
A |
G |
3: 103,743,378 (GRCm39) |
N93S |
probably benign |
Het |
Cd5l |
G |
T |
3: 87,273,414 (GRCm39) |
E128* |
probably null |
Het |
Cep97 |
T |
C |
16: 55,735,946 (GRCm39) |
D284G |
probably benign |
Het |
Ckmt1 |
T |
A |
2: 121,191,073 (GRCm39) |
S162T |
probably damaging |
Het |
Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
Cpeb4 |
A |
G |
11: 31,839,877 (GRCm39) |
D53G |
probably damaging |
Het |
Crocc2 |
T |
A |
1: 93,145,575 (GRCm39) |
S1485R |
probably damaging |
Het |
Dcaf5 |
G |
A |
12: 80,444,526 (GRCm39) |
A189V |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,111,936 (GRCm39) |
G1355S |
probably damaging |
Het |
Fam120b |
C |
T |
17: 15,623,344 (GRCm39) |
P441S |
probably benign |
Het |
Fbxo41 |
A |
G |
6: 85,461,486 (GRCm39) |
L74P |
probably damaging |
Het |
H2-DMa |
A |
G |
17: 34,356,975 (GRCm39) |
T158A |
probably benign |
Het |
Hcar2 |
T |
A |
5: 124,002,532 (GRCm39) |
T324S |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,784,580 (GRCm39) |
I222V |
possibly damaging |
Het |
Ighv1-7 |
A |
G |
12: 114,502,501 (GRCm39) |
|
probably benign |
Het |
Il20 |
T |
C |
1: 130,835,165 (GRCm39) |
E151G |
probably benign |
Het |
Jarid2 |
A |
G |
13: 45,049,766 (GRCm39) |
E236G |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,900,833 (GRCm39) |
S845P |
probably damaging |
Het |
Lamc2 |
T |
C |
1: 153,007,636 (GRCm39) |
Y846C |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,672,512 (GRCm39) |
V599A |
probably benign |
Het |
Lrrc8b |
T |
A |
5: 105,628,163 (GRCm39) |
S170T |
possibly damaging |
Het |
Mex3d |
T |
C |
10: 80,218,428 (GRCm39) |
K263R |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,553,463 (GRCm39) |
K784E |
possibly damaging |
Het |
Naip5 |
C |
A |
13: 100,367,170 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
C |
11: 62,229,060 (GRCm39) |
T609A |
possibly damaging |
Het |
Ndufs1 |
C |
T |
1: 63,189,218 (GRCm39) |
A536T |
probably benign |
Het |
Neto1 |
A |
G |
18: 86,516,768 (GRCm39) |
I362V |
probably benign |
Het |
Nfatc3 |
T |
C |
8: 106,805,689 (GRCm39) |
L178P |
probably damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Nsd3 |
C |
T |
8: 26,169,985 (GRCm39) |
T707M |
probably benign |
Het |
Or51f2 |
A |
C |
7: 102,527,004 (GRCm39) |
S226R |
probably benign |
Het |
Or5w1b |
A |
T |
2: 87,475,573 (GRCm39) |
V298E |
probably damaging |
Het |
Or9g19 |
T |
C |
2: 85,600,613 (GRCm39) |
V156A |
probably benign |
Het |
Pcnx1 |
T |
A |
12: 81,964,504 (GRCm39) |
S224T |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,165,058 (GRCm39) |
T957A |
probably damaging |
Het |
Pex7 |
A |
T |
10: 19,764,483 (GRCm39) |
D153E |
probably damaging |
Het |
Plscr1 |
A |
G |
9: 92,148,477 (GRCm39) |
E139G |
probably damaging |
Het |
Psmb8 |
T |
C |
17: 34,420,214 (GRCm39) |
Y269H |
probably benign |
Het |
Rmc1 |
T |
C |
18: 12,304,640 (GRCm39) |
F72L |
possibly damaging |
Het |
Sft2d2 |
T |
C |
1: 165,012,657 (GRCm39) |
T80A |
probably damaging |
Het |
Slc12a5 |
A |
G |
2: 164,829,141 (GRCm39) |
I583M |
possibly damaging |
Het |
Slc23a4 |
T |
C |
6: 34,933,957 (GRCm39) |
M49V |
probably benign |
Het |
Smarcb1 |
G |
A |
10: 75,740,252 (GRCm39) |
Q309* |
probably null |
Het |
Sphkap |
A |
T |
1: 83,256,006 (GRCm39) |
V294E |
probably benign |
Het |
Stoml1 |
C |
A |
9: 58,160,653 (GRCm39) |
P35Q |
probably damaging |
Het |
Timm10b |
G |
C |
7: 105,290,329 (GRCm39) |
R42P |
probably damaging |
Het |
Tnfrsf8 |
A |
T |
4: 145,019,203 (GRCm39) |
S211T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,536,164 (GRCm39) |
T26738A |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,801,452 (GRCm39) |
Y474N |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,336,732 (GRCm39) |
F1552L |
probably damaging |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Wnt7a |
A |
C |
6: 91,371,637 (GRCm39) |
Y108* |
probably null |
Het |
Zfp512b |
C |
T |
2: 181,227,461 (GRCm39) |
R56K |
probably benign |
Het |
|
Other mutations in Secisbp2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Secisbp2l
|
APN |
2 |
125,585,776 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00644:Secisbp2l
|
APN |
2 |
125,585,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01093:Secisbp2l
|
APN |
2 |
125,582,245 (GRCm39) |
missense |
probably benign |
|
IGL01621:Secisbp2l
|
APN |
2 |
125,615,131 (GRCm39) |
missense |
probably benign |
|
IGL01955:Secisbp2l
|
APN |
2 |
125,585,732 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02036:Secisbp2l
|
APN |
2 |
125,600,127 (GRCm39) |
missense |
probably benign |
|
IGL02045:Secisbp2l
|
APN |
2 |
125,617,498 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02182:Secisbp2l
|
APN |
2 |
125,589,497 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02408:Secisbp2l
|
APN |
2 |
125,582,789 (GRCm39) |
nonsense |
probably null |
|
IGL02455:Secisbp2l
|
APN |
2 |
125,615,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02953:Secisbp2l
|
APN |
2 |
125,602,194 (GRCm39) |
missense |
probably benign |
0.36 |
Rift
|
UTSW |
2 |
125,610,113 (GRCm39) |
missense |
probably damaging |
1.00 |
Seismic
|
UTSW |
2 |
125,587,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Secisbp2l
|
UTSW |
2 |
125,613,376 (GRCm39) |
missense |
probably damaging |
0.96 |
R0097:Secisbp2l
|
UTSW |
2 |
125,613,376 (GRCm39) |
missense |
probably damaging |
0.96 |
R1415:Secisbp2l
|
UTSW |
2 |
125,582,285 (GRCm39) |
missense |
probably benign |
0.00 |
R1626:Secisbp2l
|
UTSW |
2 |
125,617,606 (GRCm39) |
missense |
probably damaging |
0.99 |
R1926:Secisbp2l
|
UTSW |
2 |
125,582,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R1940:Secisbp2l
|
UTSW |
2 |
125,582,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Secisbp2l
|
UTSW |
2 |
125,589,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R2100:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2240:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2252:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2253:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2472:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2474:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2475:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2990:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2993:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3113:Secisbp2l
|
UTSW |
2 |
125,592,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R3696:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3749:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3750:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3800:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3810:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3812:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3815:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3816:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3817:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3880:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4077:Secisbp2l
|
UTSW |
2 |
125,593,785 (GRCm39) |
splice site |
probably benign |
|
R4096:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4097:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4164:Secisbp2l
|
UTSW |
2 |
125,593,803 (GRCm39) |
intron |
probably benign |
|
R4332:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4418:Secisbp2l
|
UTSW |
2 |
125,594,835 (GRCm39) |
missense |
probably benign |
0.00 |
R4598:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4600:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4602:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4603:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4678:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4679:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4684:Secisbp2l
|
UTSW |
2 |
125,587,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4749:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4934:Secisbp2l
|
UTSW |
2 |
125,582,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R5245:Secisbp2l
|
UTSW |
2 |
125,589,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R5521:Secisbp2l
|
UTSW |
2 |
125,594,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5547:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5630:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5631:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6039:Secisbp2l
|
UTSW |
2 |
125,615,136 (GRCm39) |
missense |
probably benign |
0.28 |
R6039:Secisbp2l
|
UTSW |
2 |
125,615,136 (GRCm39) |
missense |
probably benign |
0.28 |
R6378:Secisbp2l
|
UTSW |
2 |
125,610,245 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6616:Secisbp2l
|
UTSW |
2 |
125,610,146 (GRCm39) |
missense |
probably damaging |
0.96 |
R6938:Secisbp2l
|
UTSW |
2 |
125,592,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Secisbp2l
|
UTSW |
2 |
125,582,289 (GRCm39) |
missense |
probably benign |
|
R7373:Secisbp2l
|
UTSW |
2 |
125,599,191 (GRCm39) |
missense |
probably damaging |
0.99 |
R7403:Secisbp2l
|
UTSW |
2 |
125,602,199 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7484:Secisbp2l
|
UTSW |
2 |
125,613,452 (GRCm39) |
nonsense |
probably null |
|
R7504:Secisbp2l
|
UTSW |
2 |
125,600,091 (GRCm39) |
missense |
probably benign |
0.30 |
R7762:Secisbp2l
|
UTSW |
2 |
125,610,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Secisbp2l
|
UTSW |
2 |
125,613,465 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8018:Secisbp2l
|
UTSW |
2 |
125,587,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R8487:Secisbp2l
|
UTSW |
2 |
125,617,502 (GRCm39) |
nonsense |
probably null |
|
R8784:Secisbp2l
|
UTSW |
2 |
125,602,263 (GRCm39) |
nonsense |
probably null |
|
R8810:Secisbp2l
|
UTSW |
2 |
125,617,596 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8872:Secisbp2l
|
UTSW |
2 |
125,594,892 (GRCm39) |
missense |
probably benign |
|
R9111:Secisbp2l
|
UTSW |
2 |
125,602,206 (GRCm39) |
missense |
probably benign |
|
R9154:Secisbp2l
|
UTSW |
2 |
125,617,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9155:Secisbp2l
|
UTSW |
2 |
125,617,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Secisbp2l
|
UTSW |
2 |
125,589,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Secisbp2l
|
UTSW |
2 |
125,589,425 (GRCm39) |
missense |
probably benign |
0.03 |
R9592:Secisbp2l
|
UTSW |
2 |
125,582,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9602:Secisbp2l
|
UTSW |
2 |
125,609,356 (GRCm39) |
missense |
probably benign |
0.19 |
R9620:Secisbp2l
|
UTSW |
2 |
125,589,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGCTGTGGGCTCATGAC -3'
(R):5'- GCTTCCTGCTTGTAGAGACTAAC -3'
Sequencing Primer
(F):5'- GCTGTGGGCTCATGACTATAATCC -3'
(R):5'- CCTGCTTGTAGAGACTAACTGGAG -3'
|
Posted On |
2016-11-08 |