Incidental Mutation 'R7484:Secisbp2l'
ID |
579979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Secisbp2l
|
Ensembl Gene |
ENSMUSG00000035093 |
Gene Name |
SECIS binding protein 2-like |
Synonyms |
3110001I20Rik |
MMRRC Submission |
045558-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R7484 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 125613452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 181
(Q181*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053699]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000053699
AA Change: Q181*
|
SMART Domains |
Protein: ENSMUSP00000055772 Gene: ENSMUSG00000035093 AA Change: Q181*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
G |
4: 144,504,521 (GRCm39) |
L210P |
probably damaging |
Het |
Acacb |
G |
A |
5: 114,356,923 (GRCm39) |
V1285I |
probably damaging |
Het |
Acly |
A |
T |
11: 100,386,789 (GRCm39) |
I591N |
probably damaging |
Het |
Acr |
T |
A |
15: 89,457,427 (GRCm39) |
V225E |
probably damaging |
Het |
Actr8 |
A |
G |
14: 29,714,925 (GRCm39) |
D580G |
probably damaging |
Het |
Adamts12 |
C |
A |
15: 11,345,734 (GRCm39) |
Q1592K |
probably benign |
Het |
Aire |
T |
C |
10: 77,878,404 (GRCm39) |
E138G |
probably damaging |
Het |
Apob |
C |
T |
12: 8,056,884 (GRCm39) |
Q1789* |
probably null |
Het |
Cbx5 |
A |
C |
15: 103,114,256 (GRCm39) |
|
probably null |
Het |
Cd300lb |
A |
T |
11: 114,819,345 (GRCm39) |
W95R |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,827,605 (GRCm39) |
T504A |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,389,018 (GRCm39) |
S1605P |
probably damaging |
Het |
Ckap2l |
A |
G |
2: 129,114,455 (GRCm39) |
V596A |
possibly damaging |
Het |
Cntn1 |
T |
C |
15: 92,151,922 (GRCm39) |
W454R |
probably benign |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Csf2rb |
A |
G |
15: 78,223,099 (GRCm39) |
T104A |
possibly damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,289,760 (GRCm39) |
D209G |
possibly damaging |
Het |
Ddx23 |
T |
C |
15: 98,546,570 (GRCm39) |
E533G |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,660,744 (GRCm39) |
|
probably null |
Het |
Eif3l |
T |
G |
15: 78,968,336 (GRCm39) |
C202G |
probably benign |
Het |
Ephx4 |
T |
G |
5: 107,577,612 (GRCm39) |
M312R |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,534,112 (GRCm39) |
|
probably null |
Het |
Far2 |
G |
A |
6: 148,075,411 (GRCm39) |
D424N |
probably damaging |
Het |
Fat1 |
C |
A |
8: 45,489,221 (GRCm39) |
N3497K |
probably damaging |
Het |
Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
Fyb2 |
A |
T |
4: 104,870,499 (GRCm39) |
H700L |
probably benign |
Het |
Gm8356 |
T |
A |
14: 17,691,282 (GRCm39) |
M128L |
probably benign |
Het |
Golim4 |
G |
T |
3: 75,805,442 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
G |
10: 10,622,403 (GRCm39) |
D440A |
probably benign |
Het |
Gtf2a1 |
A |
G |
12: 91,529,747 (GRCm39) |
V322A |
probably benign |
Het |
Hid1 |
T |
C |
11: 115,243,407 (GRCm39) |
|
probably null |
Het |
Igfals |
G |
A |
17: 25,098,962 (GRCm39) |
V18M |
possibly damaging |
Het |
Klk1b24 |
G |
T |
7: 43,839,688 (GRCm39) |
|
probably null |
Het |
Lmbr1 |
T |
C |
5: 29,551,850 (GRCm39) |
|
probably benign |
Het |
Lrrc40 |
T |
C |
3: 157,746,194 (GRCm39) |
S90P |
probably benign |
Het |
Mapk9 |
T |
C |
11: 49,763,663 (GRCm39) |
Y185H |
probably damaging |
Het |
Marveld2 |
C |
T |
13: 100,748,068 (GRCm39) |
G337D |
probably damaging |
Het |
Mga |
G |
T |
2: 119,776,710 (GRCm39) |
R1539L |
probably damaging |
Het |
Mllt6 |
T |
A |
11: 97,563,442 (GRCm39) |
S342T |
probably benign |
Het |
Ms4a6c |
T |
C |
19: 11,449,893 (GRCm39) |
|
probably null |
Het |
Muc16 |
T |
A |
9: 18,558,064 (GRCm39) |
H2743L |
unknown |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Or10ag60 |
T |
C |
2: 87,438,281 (GRCm39) |
F183S |
probably damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,753 (GRCm39) |
H55R |
possibly damaging |
Het |
Plcd3 |
T |
G |
11: 102,962,545 (GRCm39) |
K635N |
probably damaging |
Het |
Prkch |
T |
A |
12: 73,632,301 (GRCm39) |
|
probably null |
Het |
Rb1cc1 |
T |
C |
1: 6,344,441 (GRCm39) |
V1570A |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,704 (GRCm39) |
N1803D |
probably benign |
Het |
Rufy3 |
T |
A |
5: 88,746,331 (GRCm39) |
V72E |
probably benign |
Het |
Sgcb |
A |
G |
5: 73,797,188 (GRCm39) |
F191L |
possibly damaging |
Het |
Sgsh |
T |
A |
11: 119,237,183 (GRCm39) |
D477V |
probably damaging |
Het |
Shoc1 |
A |
T |
4: 59,062,286 (GRCm39) |
V924E |
probably damaging |
Het |
Slc22a28 |
C |
A |
19: 8,048,492 (GRCm39) |
S385I |
probably benign |
Het |
Slc26a3 |
T |
C |
12: 31,497,787 (GRCm39) |
V47A |
probably benign |
Het |
Slco2a1 |
A |
T |
9: 102,945,185 (GRCm39) |
I187F |
probably damaging |
Het |
Sltm |
T |
C |
9: 70,481,179 (GRCm39) |
S344P |
unknown |
Het |
Sort1 |
A |
G |
3: 108,246,141 (GRCm39) |
T373A |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,882,274 (GRCm39) |
F474L |
probably benign |
Het |
Tbc1d5 |
G |
T |
17: 51,224,573 (GRCm39) |
A326E |
possibly damaging |
Het |
Tcstv4 |
A |
T |
13: 120,770,017 (GRCm39) |
K112N |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr70 |
G |
A |
15: 7,951,562 (GRCm39) |
T425I |
probably benign |
Het |
Zfp30 |
T |
C |
7: 29,492,231 (GRCm39) |
Y243H |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,611,559 (GRCm39) |
N55K |
possibly damaging |
Het |
Zftraf1 |
A |
G |
15: 76,530,435 (GRCm39) |
L295P |
probably damaging |
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 |
R5632: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 |
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'- AGCAACAGAGGACACTGCTG -3'
(R):5'- GGTACATCATTTAGCTTCTGATGC -3'
Sequencing Primer
(F):5'- AGAGGACACTGCTGCTCTAC -3'
(R):5'- GTCCGTTATGTTTAGTACCTC -3'
|
Posted On |
2019-10-07 |