Incidental Mutation 'R3696:Secisbp2l'
ID 269807
Institutional Source Beutler Lab
Gene Symbol Secisbp2l
Ensembl Gene ENSMUSG00000035093
Gene Name SECIS binding protein 2-like
Synonyms 3110001I20Rik
MMRRC Submission 040690-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R3696 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 A G 4: 139,369,562 (GRCm39) H371R possibly damaging Het
Anapc4 A G 5: 53,019,351 (GRCm39) S562G probably null Het
Arfgef2 T A 2: 166,695,220 (GRCm39) L531* probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cacna1s A G 1: 136,033,552 (GRCm39) M1010V probably damaging Het
Chga A G 12: 102,527,724 (GRCm39) E126G probably damaging Het
Ckap5 C A 2: 91,450,511 (GRCm39) T2014K probably benign Het
Dlat C T 9: 50,562,176 (GRCm39) V283I possibly damaging Het
Emc1 T G 4: 139,092,697 (GRCm39) S546A possibly damaging Het
Ephx1 G A 1: 180,817,516 (GRCm39) S385L probably benign Het
Ermard T C 17: 15,273,638 (GRCm39) S408P probably benign Het
Etl4 G A 2: 20,806,473 (GRCm39) probably null Het
Hydin T C 8: 111,329,911 (GRCm39) S4882P probably damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Il6st T G 13: 112,640,916 (GRCm39) D897E probably benign Het
Ipo5 A C 14: 121,159,574 (GRCm39) K134T probably benign Het
Itgb8 A G 12: 119,140,746 (GRCm39) V377A probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lama3 A G 18: 12,572,532 (GRCm39) probably benign Het
Macf1 T G 4: 123,350,155 (GRCm39) T2027P probably damaging Het
Myh13 A C 11: 67,235,870 (GRCm39) I678L possibly damaging Het
Nfu1 A G 6: 86,992,634 (GRCm39) T83A probably damaging Het
Nid1 G A 13: 13,661,344 (GRCm39) C748Y probably damaging Het
Or1af1 C T 2: 37,110,188 (GRCm39) P229L probably damaging Het
Or5w15 T C 2: 87,568,360 (GRCm39) T103A probably benign Het
Prm3 T C 16: 10,608,672 (GRCm39) M28V possibly damaging Het
Rgs22 C T 15: 36,100,038 (GRCm39) V226I probably benign Het
Septin4 A T 11: 87,476,060 (GRCm39) T212S possibly damaging Het
Trdn T A 10: 33,181,028 (GRCm39) probably null Het
Trim2 T A 3: 84,098,158 (GRCm39) Y390F probably benign Het
Vmn1r17 T A 6: 57,337,523 (GRCm39) I232F possibly damaging Het
Zfp30 A T 7: 29,492,815 (GRCm39) K356N probably damaging 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
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
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'- TCCTGCTTGTAGAGACTAACTGG -3'

Sequencing Primer
(F):5'- GCTGTGGGCTCATGACTATAATCC -3'
(R):5'- CTGCTTGTAGAGACTAACTGGAGGAG -3'
Posted On 2015-03-18