Incidental Mutation 'R7373:Secisbp2l'
ID 572204
Institutional Source Beutler Lab
Gene Symbol Secisbp2l
Ensembl Gene ENSMUSG00000035093
Gene Name SECIS binding protein 2-like
Synonyms 3110001I20Rik
MMRRC Submission 045456-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R7373 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 125578906-125624790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125599191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 494 (M494K)
Ref Sequence ENSEMBL: ENSMUSP00000055772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053699]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053699
AA Change: M494K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055772
Gene: ENSMUSG00000035093
AA Change: M494K

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
SMART Domains Protein: ENSMUSP00000121529
Gene: ENSMUSG00000035093
AA Change: M119K

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 0.5143 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 G A 11: 50,686,262 (GRCm39) A1027T probably benign Het
Aldh7a1 G A 18: 56,675,389 (GRCm39) T260M possibly damaging Het
Anks3 T C 16: 4,773,735 (GRCm39) Y187C probably benign Het
Atp2c2 A T 8: 120,456,991 (GRCm39) I198F probably benign Het
Bsn T C 9: 107,990,683 (GRCm39) T1690A probably damaging Het
Catsper3 T C 13: 55,955,945 (GRCm39) I350T possibly damaging Het
Cdcp1 C T 9: 123,006,965 (GRCm39) R594H probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cldn1 G T 16: 26,179,606 (GRCm39) P154T probably damaging Het
Cntnap5a A T 1: 116,508,367 (GRCm39) N1293I probably benign Het
Cpsf4l C T 11: 113,590,657 (GRCm39) probably null Het
Crybg1 T C 10: 43,880,136 (GRCm39) T351A probably benign Het
Csmd1 T C 8: 16,042,713 (GRCm39) N2340S probably damaging Het
Dennd4a C A 9: 64,804,551 (GRCm39) Q1297K probably benign Het
Dll3 A G 7: 27,994,057 (GRCm39) V460A probably benign Het
Dnah8 T C 17: 30,986,939 (GRCm39) probably null Het
Dst G T 1: 34,227,472 (GRCm39) L1688F probably benign Het
Ehmt1 A G 2: 24,809,585 (GRCm39) M1T probably null Het
Fasn A T 11: 120,704,802 (GRCm39) L1261Q possibly damaging Het
Fat1 A G 8: 45,479,702 (GRCm39) D2916G probably damaging Het
Fgfr3 C A 5: 33,885,034 (GRCm39) F49L probably benign Het
Hlx T C 1: 184,463,062 (GRCm39) T197A probably benign Het
Hormad1 A T 3: 95,483,628 (GRCm39) T147S probably damaging Het
Igf1r T A 7: 67,844,826 (GRCm39) Y866* probably null Het
Itgb8 A G 12: 119,166,210 (GRCm39) V107A probably benign Het
Kat2a C T 11: 100,599,392 (GRCm39) A533T probably benign Het
Kif20b T C 19: 34,913,071 (GRCm39) L328P probably damaging Het
Lims1 T C 10: 58,245,442 (GRCm39) F157S probably damaging Het
Lrp2 G T 2: 69,331,036 (GRCm39) H1673Q probably damaging Het
Lrrc46 C A 11: 96,929,706 (GRCm39) M43I probably benign Het
Lrrk2 T C 15: 91,584,207 (GRCm39) probably null Het
Meox2 A T 12: 37,158,797 (GRCm39) probably benign Het
Mff A G 1: 82,714,838 (GRCm39) probably null Het
Mfsd5 T A 15: 102,189,427 (GRCm39) F266L probably damaging Het
Miga2 A G 2: 30,272,083 (GRCm39) T468A probably damaging Het
Mmel1 T A 4: 154,973,665 (GRCm39) L316Q not run Het
Ndufa9 C A 6: 126,811,421 (GRCm39) G232C probably damaging Het
Obox2 A T 7: 15,131,145 (GRCm39) K84* probably null Het
Or4f58 T A 2: 111,851,787 (GRCm39) R137S probably benign Het
Or51a39 T A 7: 102,363,306 (GRCm39) I105F possibly damaging Het
Otogl G T 10: 107,737,112 (GRCm39) Q101K probably damaging Het
Pcnx2 C T 8: 126,534,766 (GRCm39) V1288M probably damaging Het
Pde10a T A 17: 9,161,824 (GRCm39) W220R probably benign Het
Recql5 T C 11: 115,819,198 (GRCm39) T123A possibly damaging Het
Rpl28 T C 7: 4,796,602 (GRCm39) V61A probably benign Het
Sh3bgr G A 16: 96,007,035 (GRCm39) E2K unknown Het
Shcbp1l C A 1: 153,300,986 (GRCm39) T6K probably benign Het
Slc22a15 A C 3: 101,785,213 (GRCm39) L353R possibly damaging Het
Sqle T C 15: 59,189,658 (GRCm39) I100T probably benign Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tll1 A T 8: 64,504,391 (GRCm39) N668K probably damaging Het
Tm7sf2 A G 19: 6,116,676 (GRCm39) S118P probably benign Het
Tmco5 G T 2: 116,717,226 (GRCm39) V169L probably benign Het
Trpv1 A G 11: 73,131,499 (GRCm39) K346E probably damaging Het
Ttk G A 9: 83,736,930 (GRCm39) R463H probably benign Het
Vmn2r120 G T 17: 57,816,406 (GRCm39) L650I probably benign Het
Vmn2r58 C T 7: 41,487,212 (GRCm39) C561Y probably damaging Het
Vmn2r-ps117 A T 17: 19,044,948 (GRCm39) Q455L probably benign Het
Zfr T A 15: 12,140,645 (GRCm39) S231T unknown 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
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
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'- CTTTAGGGGTAGAGGGTCAAGTAC -3'
(R):5'- TTCCTAAGCGAGCCAAGAGTC -3'

Sequencing Primer
(F):5'- TAGAGGGTCAAGTACAGAGTAAGG -3'
(R):5'- CGTTAGCTGCAGCCCTTG -3'
Posted On 2019-09-13