Incidental Mutation 'R4598:Secisbp2l'
ID 345335
Institutional Source Beutler Lab
Gene Symbol Secisbp2l
Ensembl Gene ENSMUSG00000035093
Gene Name SECIS binding protein 2-like
Synonyms 3110001I20Rik
MMRRC Submission 041814-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R4598 (G1)
Quality Score 225
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik G A 1: 11,818,188 (GRCm39) probably null Het
Abca14 T C 7: 119,854,626 (GRCm39) V930A probably benign Het
Abcb7 A C X: 103,366,988 (GRCm39) D135E probably benign Het
Ace T A 11: 105,872,585 (GRCm39) probably null Het
Acnat1 T C 4: 49,450,781 (GRCm39) D110G probably benign Het
Ak9 C T 10: 41,259,907 (GRCm39) P862S probably damaging Het
Atp1a3 A G 7: 24,678,766 (GRCm39) S972P probably damaging Het
Bmf C A 2: 118,379,609 (GRCm39) A56S probably benign Het
C6 T C 15: 4,792,852 (GRCm39) L319P possibly damaging Het
Cab39 A G 1: 85,776,050 (GRCm39) Y249C probably damaging Het
Cdc14b T C 13: 64,395,088 (GRCm39) T69A probably benign Het
Cep162 A G 9: 87,085,848 (GRCm39) Y1159H possibly damaging Het
Chrna7 A G 7: 62,753,538 (GRCm39) M327T probably damaging Het
Clca3a2 A T 3: 144,511,444 (GRCm39) N41K probably damaging Het
Clock T C 5: 76,383,657 (GRCm39) M499V probably benign Het
Col5a3 A G 9: 20,685,855 (GRCm39) probably null Het
Coq6 T C 12: 84,408,913 (GRCm39) V30A probably benign Het
Cyp3a57 A G 5: 145,327,227 (GRCm39) I473V probably benign Het
D430041D05Rik A T 2: 104,038,528 (GRCm39) V1547D probably damaging Het
Dhx9 TCC TC 1: 153,342,797 (GRCm39) probably null Het
Dock2 T A 11: 34,189,536 (GRCm39) Y1545F probably damaging Het
Eif4e3 T A 6: 99,617,671 (GRCm39) I67L probably benign Het
Epor A G 9: 21,873,155 (GRCm39) S86P probably benign Het
Esp31 T A 17: 38,952,012 (GRCm39) probably null Het
Esrp2 A G 8: 106,859,343 (GRCm39) M498T probably damaging Het
F5 T C 1: 164,032,366 (GRCm39) I1771T probably benign Het
Fancd2 C A 6: 113,562,438 (GRCm39) H1259Q probably benign Het
Gale C A 4: 135,695,148 (GRCm39) S341* probably null Het
Ints12 T A 3: 132,804,214 (GRCm39) I67N probably benign Het
Kat2b A G 17: 53,977,826 (GRCm39) Y791C probably benign Het
Kazn A G 4: 141,937,403 (GRCm39) V108A possibly damaging Het
Kcnma1 T C 14: 23,853,228 (GRCm39) T109A probably damaging Het
Med13 T C 11: 86,169,392 (GRCm39) T1955A probably damaging Het
Megf10 G A 18: 57,322,675 (GRCm39) probably null Het
Megf10 A T 18: 57,420,884 (GRCm39) S841C probably damaging Het
Mep1a A G 17: 43,802,469 (GRCm39) probably null Het
Mrap2 A T 9: 87,064,842 (GRCm39) E194D probably damaging Het
Msh2 A G 17: 88,016,006 (GRCm39) K546R probably damaging Het
Ndc80 T C 17: 71,828,063 (GRCm39) D88G probably damaging Het
Nrip1 A G 16: 76,089,968 (GRCm39) F530L probably damaging Het
Or2y10 T C 11: 49,455,545 (GRCm39) S266P probably damaging Het
Or52e7 A C 7: 104,685,280 (GRCm39) I292L probably benign Het
Or6c216 T C 10: 129,678,864 (GRCm39) T16A possibly damaging Het
Or9i16 A T 19: 13,865,381 (GRCm39) H64Q probably damaging Het
Oxtr C T 6: 112,466,713 (GRCm39) G16R probably benign Het
Pdgfrb A T 18: 61,201,829 (GRCm39) K464N probably benign Het
Pja2 A T 17: 64,620,025 (GRCm39) M1K probably null Het
Pkhd1 A T 1: 20,573,280 (GRCm39) N1875K probably damaging Het
Pogz T C 3: 94,787,491 (GRCm39) S1360P possibly damaging Het
Proc A T 18: 32,256,512 (GRCm39) L385Q probably damaging Het
Ptprm A G 17: 67,402,492 (GRCm39) I132T probably benign Het
Rpgr A G X: 10,062,255 (GRCm39) S343P probably benign Het
Rsu1 T C 2: 13,174,815 (GRCm39) Y225C probably damaging Het
Scyl1 A G 19: 5,820,481 (GRCm39) S118P probably damaging Het
Sec61a1 T C 6: 88,483,131 (GRCm39) N414D probably benign Het
Sema7a A G 9: 57,860,834 (GRCm39) D65G probably benign Het
Slc25a45 A G 19: 5,934,464 (GRCm39) Y144C probably damaging Het
Slc26a6 A G 9: 108,733,579 (GRCm39) Y103C probably damaging Het
Stat3 C T 11: 100,794,500 (GRCm39) D270N probably damaging Het
Taar8b T C 10: 23,967,736 (GRCm39) S153G probably benign Het
Top1 A G 2: 160,562,885 (GRCm39) E697G possibly damaging Het
Trappc11 G A 8: 47,966,801 (GRCm39) T470I probably damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Usp29 A G 7: 6,965,479 (GRCm39) T441A probably benign Het
Vmn2r110 A T 17: 20,804,029 (GRCm39) L182* probably null Het
Zgrf1 T C 3: 127,394,679 (GRCm39) I1345T probably benign Het
Zscan25 G T 5: 145,227,815 (GRCm39) R493L probably benign Het
Other mutations in Secisbp2l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCTTGTAGAGACTAACTGGAGG -3'

Sequencing Primer
(F):5'- GCTGTGGGCTCATGACTATAATCC -3'
(R):5'- GAGCATGGTGGAGACGTCC -3'
Posted On 2015-09-25