Incidental Mutation 'IGL02885:Semp2l2b'
ID 362985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Semp2l2b
Ensembl Gene ENSMUSG00000069712
Gene Name SUMO/sentrin specific peptidase 2-like 2B
Synonyms 4930444G20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL02885
Quality Score
Status
Chromosome 10
Chromosomal Location 21942208-21943978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21943057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 308 (I308F)
Ref Sequence ENSEMBL: ENSMUSP00000097613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092672]
AlphaFold D3Z741
Predicted Effect possibly damaging
Transcript: ENSMUST00000092672
AA Change: I308F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: I308F

DomainStartEndE-ValueType
low complexity region 194 205 N/A INTRINSIC
Pfam:Peptidase_C48 315 494 1.9e-45 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,152 (GRCm39) N683S probably benign Het
Ahi1 T A 10: 20,931,012 (GRCm39) F46I possibly damaging Het
Als2 C T 1: 59,206,650 (GRCm39) V1598I probably benign Het
Arid1b A T 17: 5,392,428 (GRCm39) D1986V probably damaging Het
Bhlhe41 T A 6: 145,810,989 (GRCm39) D2V probably damaging Het
Borcs6 A G 11: 68,951,072 (GRCm39) D150G possibly damaging Het
Ccdc88a G T 11: 29,398,050 (GRCm39) R261L probably damaging Het
Ccne2 T A 4: 11,198,723 (GRCm39) probably benign Het
Cenpk A G 13: 104,385,903 (GRCm39) D266G probably damaging Het
Ces2b T C 8: 105,561,563 (GRCm39) V219A probably damaging Het
Cpa1 A G 6: 30,645,169 (GRCm39) R382G probably damaging Het
Cplx4 G T 18: 66,089,984 (GRCm39) T145N probably damaging Het
Cyp19a1 T C 9: 54,079,102 (GRCm39) I269V probably benign Het
Dennd3 A G 15: 73,440,545 (GRCm39) Y1192C probably benign Het
Dpp6 T C 5: 27,923,471 (GRCm39) Y694H probably damaging Het
Eea1 C A 10: 95,877,346 (GRCm39) N1353K probably benign Het
Fam111a T A 19: 12,561,488 (GRCm39) probably null Het
Fat1 T C 8: 45,442,204 (GRCm39) S1169P probably benign Het
Frk G T 10: 34,360,067 (GRCm39) A23S probably benign Het
Fyb2 T C 4: 104,861,118 (GRCm39) V594A probably damaging Het
Gtpbp3 C A 8: 71,942,064 (GRCm39) probably benign Het
Hoxa5 G T 6: 52,179,688 (GRCm39) A229D probably damaging Het
Ift25 G A 4: 107,130,866 (GRCm39) C52Y possibly damaging Het
Igf2r A T 17: 12,913,007 (GRCm39) F1780L possibly damaging Het
Jade2 A T 11: 51,722,123 (GRCm39) D143E probably damaging Het
Kdm1a T C 4: 136,279,846 (GRCm39) I719V probably benign Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lmx1b G T 2: 33,457,216 (GRCm39) Q206K probably benign Het
Lrrtm4 G A 6: 79,998,786 (GRCm39) G66D probably damaging Het
Myg1 G T 15: 102,240,594 (GRCm39) G90C probably damaging Het
Nbea C T 3: 55,539,407 (GRCm39) V2785I probably benign Het
Ncr1 C A 7: 4,341,225 (GRCm39) P35Q probably damaging Het
Nos1 T A 5: 118,033,855 (GRCm39) C326S probably damaging Het
Or12j2 T C 7: 139,916,072 (GRCm39) F99S possibly damaging Het
Or3a1 G T 11: 74,225,519 (GRCm39) H179Q possibly damaging Het
Or52r1 A T 7: 102,537,243 (GRCm39) V39E possibly damaging Het
Pde4d A G 13: 110,084,795 (GRCm39) Y520C probably damaging Het
Ppm1d A G 11: 85,217,770 (GRCm39) M178V possibly damaging Het
Samd3 G A 10: 26,147,762 (GRCm39) R479K probably benign Het
Serpinb6a A G 13: 34,102,782 (GRCm39) V226A probably benign Het
Slc26a4 T C 12: 31,575,475 (GRCm39) E737G probably benign Het
Slc34a3 A G 2: 25,121,069 (GRCm39) C340R probably damaging Het
Spata31d1b C A 13: 59,866,941 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,013 (GRCm39) V173A probably benign Het
Vmn2r66 A T 7: 84,644,723 (GRCm39) D562E probably benign Het
Zfp395 C T 14: 65,633,344 (GRCm39) P451L probably benign Het
Other mutations in Semp2l2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02001:Semp2l2b APN 10 21,943,176 (GRCm39) missense probably benign 0.01
IGL02546:Semp2l2b APN 10 21,942,826 (GRCm39) missense probably damaging 1.00
R0543:Semp2l2b UTSW 10 21,942,823 (GRCm39) missense possibly damaging 0.88
R1762:Semp2l2b UTSW 10 21,943,411 (GRCm39) missense probably benign 0.02
R2249:Semp2l2b UTSW 10 21,943,015 (GRCm39) missense possibly damaging 0.77
R2354:Semp2l2b UTSW 10 21,943,155 (GRCm39) missense probably benign 0.19
R2870:Semp2l2b UTSW 10 21,943,278 (GRCm39) missense probably benign
R2870:Semp2l2b UTSW 10 21,943,278 (GRCm39) missense probably benign
R3777:Semp2l2b UTSW 10 21,942,861 (GRCm39) missense probably damaging 1.00
R4117:Semp2l2b UTSW 10 21,943,615 (GRCm39) missense probably benign
R4644:Semp2l2b UTSW 10 21,942,660 (GRCm39) missense probably benign 0.02
R5002:Semp2l2b UTSW 10 21,943,716 (GRCm39) missense probably damaging 0.99
R5667:Semp2l2b UTSW 10 21,942,742 (GRCm39) missense possibly damaging 0.91
R5671:Semp2l2b UTSW 10 21,942,742 (GRCm39) missense possibly damaging 0.91
R6694:Semp2l2b UTSW 10 21,943,620 (GRCm39) missense probably damaging 0.99
R6810:Semp2l2b UTSW 10 21,942,616 (GRCm39) missense probably damaging 1.00
R6923:Semp2l2b UTSW 10 21,943,654 (GRCm39) missense probably damaging 1.00
R6942:Semp2l2b UTSW 10 21,943,160 (GRCm39) missense probably benign
R7065:Semp2l2b UTSW 10 21,943,197 (GRCm39) missense probably benign 0.00
R7204:Semp2l2b UTSW 10 21,943,785 (GRCm39) missense probably damaging 1.00
R8778:Semp2l2b UTSW 10 21,943,356 (GRCm39) missense probably damaging 0.99
R9403:Semp2l2b UTSW 10 21,943,840 (GRCm39) missense possibly damaging 0.65
R9416:Semp2l2b UTSW 10 21,943,752 (GRCm39) missense probably benign 0.04
R9508:Semp2l2b UTSW 10 21,942,816 (GRCm39) missense probably damaging 0.99
R9615:Semp2l2b UTSW 10 21,943,611 (GRCm39) missense probably benign 0.29
Posted On 2015-12-18