Incidental Mutation 'R5547:Secisbp2l'
ID 436329
Institutional Source Beutler Lab
Gene Symbol Secisbp2l
Ensembl Gene ENSMUSG00000035093
Gene Name SECIS binding protein 2-like
Synonyms 3110001I20Rik
MMRRC Submission 043105-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R5547 (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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,661,356 (GRCm39) S492P probably damaging Het
Arfgef1 A T 1: 10,231,201 (GRCm39) D1133E probably damaging Het
Avpi1 T C 19: 42,113,382 (GRCm39) K25R probably damaging Het
Bank1 T C 3: 135,772,110 (GRCm39) S708G probably damaging Het
C1qtnf2 A G 11: 43,381,794 (GRCm39) E202G probably damaging Het
C6 T A 15: 4,837,970 (GRCm39) V860E probably benign Het
Cbr1 T A 16: 93,406,698 (GRCm39) V138E probably damaging Het
Cdip1 A G 16: 4,587,988 (GRCm39) S2P probably damaging Het
Cep126 T C 9: 8,100,428 (GRCm39) N702S probably damaging Het
Chek1 T C 9: 36,623,400 (GRCm39) I381V probably benign Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cryz C T 3: 154,317,194 (GRCm39) R138* probably null Het
Ctsll3 T A 13: 60,948,551 (GRCm39) M103L probably benign Het
Daxx TGATGATGACGATGATGACGATGATGA TGATGATGACGATGATGA 17: 34,131,615 (GRCm39) probably benign Het
Daxx CGATGATGATGA CGA 17: 34,131,633 (GRCm39) probably benign Het
Dsg1a T G 18: 20,469,097 (GRCm39) probably null Het
Eya4 T C 10: 22,985,753 (GRCm39) E583G possibly damaging Het
Flt1 T A 5: 147,591,948 (GRCm39) S505C probably damaging Het
Gpr161 C A 1: 165,133,982 (GRCm39) F81L possibly damaging Het
H2-T15 G A 17: 36,368,796 (GRCm39) H95Y possibly damaging Het
Hmcn1 A G 1: 150,613,257 (GRCm39) V1390A possibly damaging Het
Ifi44l C T 3: 151,467,142 (GRCm39) V63I unknown Het
Klhl3 C T 13: 58,250,243 (GRCm39) probably null Het
Lekr1 T A 3: 65,576,601 (GRCm39) probably null Het
Lhx5 A G 5: 120,572,675 (GRCm39) Q98R probably benign Het
Nuggc A G 14: 65,879,330 (GRCm39) K681E possibly damaging Het
Numa1 G T 7: 101,663,137 (GRCm39) A735S probably damaging Het
Oog3 A T 4: 143,884,598 (GRCm39) L446Q probably benign Het
Or5ac19 G A 16: 59,089,479 (GRCm39) L184F probably benign Het
Otogl C T 10: 107,617,909 (GRCm39) E1735K possibly damaging Het
Pcsk5 T C 19: 17,729,488 (GRCm39) D119G probably benign Het
Pgpep1 T C 8: 71,105,069 (GRCm39) K64E probably benign Het
Prr19 A C 7: 25,003,388 (GRCm39) D334A probably damaging Het
Ptprh G T 7: 4,557,221 (GRCm39) S691* probably null Het
Recql4 G A 15: 76,589,994 (GRCm39) R684* probably null Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rnf40 T C 7: 127,188,302 (GRCm39) probably null Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tdo2 T C 3: 81,866,247 (GRCm39) R339G probably damaging Het
Tmem245 C T 4: 56,910,156 (GRCm39) probably null Het
Trim24 A G 6: 37,942,485 (GRCm39) E965G probably damaging Het
Trmt112 T C 19: 6,888,156 (GRCm39) S103P probably damaging Het
Trpv6 A T 6: 41,613,088 (GRCm39) V26D possibly damaging Het
Zfp850 A G 7: 27,688,844 (GRCm39) C455R probably damaging Het
Zfp946 T C 17: 22,673,873 (GRCm39) I209T probably benign Het
Zfp957 T C 14: 79,451,406 (GRCm39) N131S 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
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
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 2016-10-24