Incidental Mutation 'R3815:Secisbp2l'
ID 274224
Institutional Source Beutler Lab
Gene Symbol Secisbp2l
Ensembl Gene ENSMUSG00000035093
Gene Name SECIS binding protein 2-like
Synonyms 3110001I20Rik
MMRRC Submission 040770-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R3815 (G1)
Quality Score 225
Status 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: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,558,944 (GRCm39) S299P probably damaging Het
Ankrd6 A C 4: 32,806,206 (GRCm39) S618R probably benign Het
Apobec3 G T 15: 79,783,301 (GRCm39) R126M possibly damaging Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
AW554918 C T 18: 25,533,104 (GRCm39) R253C probably benign Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Cdca7l G A 12: 117,835,948 (GRCm39) V95I probably damaging Het
Ces1e A G 8: 93,928,467 (GRCm39) probably null Het
Cfap90 A G 13: 68,759,344 (GRCm39) H106R probably damaging Het
Coq5 T G 5: 115,433,957 (GRCm39) F306V probably damaging Het
Cpsf1 A G 15: 76,485,349 (GRCm39) V501A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cul5 T A 9: 53,534,243 (GRCm39) I630L probably benign Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dedd A G 1: 171,166,469 (GRCm39) E135G probably benign Het
Ecel1 A G 1: 87,080,622 (GRCm39) F368S probably damaging Het
Ext1 A C 15: 53,208,485 (GRCm39) I92S probably benign Het
Fbxw5 A T 2: 25,393,576 (GRCm39) D268V possibly damaging Het
Flacc1 T G 1: 58,698,164 (GRCm39) N379T probably damaging Het
Gen1 A T 12: 11,302,034 (GRCm39) V192E possibly damaging Het
Gm11077 T G 6: 140,675,041 (GRCm39) V11G unknown Het
Ift88 A T 14: 57,678,438 (GRCm39) E150V possibly damaging Het
Kcna1 T C 6: 126,620,009 (GRCm39) R104G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt82 A G 15: 101,459,035 (GRCm39) S2P probably damaging Het
Luc7l2 T C 6: 38,547,526 (GRCm39) S69P possibly damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Mamstr G T 7: 45,293,956 (GRCm39) R20L probably damaging Het
Nav1 C A 1: 135,398,862 (GRCm39) K573N possibly damaging Het
Or5b104 T C 19: 13,072,277 (GRCm39) H245R probably damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Palld T A 8: 62,002,871 (GRCm39) probably benign Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,883,359 (GRCm39) E329V probably damaging Het
Rarres1 T A 3: 67,422,654 (GRCm39) D32V probably benign Het
Rhobtb1 A G 10: 69,121,523 (GRCm39) H53R possibly damaging Het
Ryr1 A T 7: 28,772,327 (GRCm39) S2494T probably damaging Het
Sapcd2 G A 2: 25,263,518 (GRCm39) probably benign Het
Senp1 A C 15: 97,954,713 (GRCm39) D490E probably damaging Het
Sfrp5 C T 19: 42,187,230 (GRCm39) R280H probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Skint5 G A 4: 113,703,496 (GRCm39) T499I possibly damaging Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Spire1 G T 18: 67,639,733 (GRCm39) T273K probably benign Het
Tep1 T C 14: 51,105,772 (GRCm39) T83A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttn T A 2: 76,552,077 (GRCm39) R29441* probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) 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
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
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'- CTTGTAGAGACTAACTGGAGGAGC -3'

Sequencing Primer
(F):5'- GCTGTGGGCTCATGACTATAATCC -3'
(R):5'- AGCATGGTGGAGACGTCC -3'
Posted On 2015-04-02