Incidental Mutation 'R4761:Semp2l1'
ID 356856
Institutional Source Beutler Lab
Gene Symbol Semp2l1
Ensembl Gene ENSMUSG00000091318
Gene Name SUMO/sentrin specific peptidase 2-like 1
Synonyms Gm5415
MMRRC Submission 042402-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R4761 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 32582767-32586375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32585588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 107 (S107R)
Ref Sequence ENSEMBL: ENSMUSP00000132789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226] [ENSMUST00000171322]
AlphaFold E9PXF3
Predicted Effect probably benign
Transcript: ENSMUST00000027226
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
KH 58 156 4.93e-7 SMART
low complexity region 185 197 N/A INTRINSIC
low complexity region 204 231 N/A INTRINSIC
Pfam:Sam68-YY 267 321 1.3e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171322
AA Change: S107R

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: S107R

DomainStartEndE-ValueType
low complexity region 137 150 N/A INTRINSIC
Pfam:Peptidase_C48 298 477 7.4e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195761
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A G 9: 101,820,165 (GRCm39) D195G possibly damaging Het
Abcc8 G A 7: 45,762,499 (GRCm39) R1221C probably damaging Het
Adra1a T A 14: 66,964,880 (GRCm39) probably null Het
Akr1c6 A T 13: 4,497,010 (GRCm39) M98L probably benign Het
Alpk3 A G 7: 80,753,916 (GRCm39) Q1632R probably damaging Het
Arhgap24 G T 5: 102,812,080 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,308,504 (GRCm39) *40W probably null Het
Bdkrb2 A T 12: 105,554,537 (GRCm39) M17L probably benign Het
C4bp T C 1: 130,581,158 (GRCm39) K117R possibly damaging Het
Cacng3 A T 7: 122,367,887 (GRCm39) T256S probably benign Het
Cep63 T C 9: 102,464,240 (GRCm39) probably benign Het
Ces2b T A 8: 105,563,193 (GRCm39) probably null Het
Col12a1 T A 9: 79,564,592 (GRCm39) D1696V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcst1 A T 3: 89,264,860 (GRCm39) M296K possibly damaging Het
Ehbp1l1 G A 19: 5,769,875 (GRCm39) P476L possibly damaging Het
Enpp1 A G 10: 24,517,849 (GRCm39) V858A possibly damaging Het
Ermp1 T A 19: 29,623,656 (GRCm39) E55D probably benign Het
Eya1 G A 1: 14,373,045 (GRCm39) L25F probably damaging Het
Foxn2 T A 17: 88,770,136 (GRCm39) probably null Het
Gabrb3 A T 7: 57,415,250 (GRCm39) T107S probably damaging Het
Gm26678 A T 3: 54,540,564 (GRCm39) noncoding transcript Het
Gm7897 G T 1: 173,657,536 (GRCm39) noncoding transcript Het
Gm9789 A T 16: 88,954,915 (GRCm39) Y8F unknown Het
Gsta3 A T 1: 21,330,381 (GRCm39) T78S probably benign Het
H2-Ab1 A G 17: 34,486,474 (GRCm39) N178D probably damaging Het
Herc6 G A 6: 57,639,885 (GRCm39) V1000I probably benign Het
Hrnr A C 3: 93,230,062 (GRCm39) K100T probably damaging Het
Ift57 T C 16: 49,522,263 (GRCm39) F2L probably damaging Het
Iqca1l A G 5: 24,756,981 (GRCm39) V232A probably benign Het
Kmt2a C A 9: 44,760,421 (GRCm39) R509L probably damaging Het
Lefty1 T A 1: 180,765,190 (GRCm39) C253S probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Mfsd9 T C 1: 40,813,635 (GRCm39) K227E possibly damaging Het
Mrps2 C G 2: 28,359,946 (GRCm39) H268D probably benign Het
Mrps27 T A 13: 99,548,739 (GRCm39) S292T probably benign Het
Ncaph T C 2: 126,948,036 (GRCm39) D683G probably benign Het
Nlrc3 A T 16: 3,781,514 (GRCm39) S632T probably damaging Het
Nsun6 T C 2: 15,034,872 (GRCm39) T198A possibly damaging Het
Oasl2 C T 5: 115,037,836 (GRCm39) H78Y probably benign Het
Or8b54 T C 9: 38,687,133 (GRCm39) V194A probably benign Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdgfrb C A 18: 61,212,772 (GRCm39) S892Y probably damaging Het
Phf8-ps A T 17: 33,286,172 (GRCm39) V210D probably damaging Het
Por T G 5: 135,754,784 (GRCm39) probably benign Het
Ppp2r5e A T 12: 75,640,035 (GRCm39) V22D possibly damaging Het
Prcp A G 7: 92,566,933 (GRCm39) probably null Het
Ptchd3 A T 11: 121,727,224 (GRCm39) N366I possibly damaging Het
Rprd1b A G 2: 157,889,890 (GRCm39) E4G probably damaging Het
Serpinb6d C A 13: 33,855,250 (GRCm39) S308Y probably damaging Het
Slc12a7 T C 13: 73,961,708 (GRCm39) V1026A probably benign Het
Slc17a7 G A 7: 44,820,408 (GRCm39) V313I probably benign Het
Slc35c1 T A 2: 92,289,168 (GRCm39) M113L probably damaging Het
Smgc A G 15: 91,729,717 (GRCm39) T178A possibly damaging Het
Spef2 A T 15: 9,653,040 (GRCm39) W914R probably damaging Het
Srfbp1 C A 18: 52,621,638 (GRCm39) P233Q probably damaging Het
Swt1 A C 1: 151,276,853 (GRCm39) C508G probably benign Het
Tex22 T C 12: 113,052,386 (GRCm39) V148A possibly damaging Het
Tle7 A T 8: 110,836,753 (GRCm39) D213V probably damaging Het
Tpd52 G A 3: 9,028,933 (GRCm39) P37L probably damaging Het
Utp25 T C 1: 192,796,230 (GRCm39) Y145C probably damaging Het
Vmn1r197 A T 13: 22,512,174 (GRCm39) M32L probably benign Het
Vmn2r100 T C 17: 19,741,630 (GRCm39) F114S possibly damaging Het
Xdh T A 17: 74,217,262 (GRCm39) I669F possibly damaging Het
Zfp940 G A 7: 29,545,578 (GRCm39) R110C probably benign Het
Other mutations in Semp2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Semp2l1 APN 1 32,585,748 (GRCm39) missense probably benign
IGL01148:Semp2l1 APN 1 32,584,735 (GRCm39) missense possibly damaging 0.88
IGL02323:Semp2l1 APN 1 32,584,785 (GRCm39) nonsense probably null
IGL03076:Semp2l1 APN 1 32,584,626 (GRCm39) missense probably damaging 1.00
IGL03288:Semp2l1 APN 1 32,584,841 (GRCm39) missense probably benign 0.09
PIT4576001:Semp2l1 UTSW 1 32,585,553 (GRCm39) missense probably damaging 1.00
R0110:Semp2l1 UTSW 1 32,584,956 (GRCm39) missense possibly damaging 0.87
R0510:Semp2l1 UTSW 1 32,584,956 (GRCm39) missense possibly damaging 0.87
R0891:Semp2l1 UTSW 1 32,585,442 (GRCm39) missense possibly damaging 0.54
R1836:Semp2l1 UTSW 1 32,584,758 (GRCm39) missense probably damaging 1.00
R1939:Semp2l1 UTSW 1 32,584,627 (GRCm39) missense probably damaging 0.99
R2156:Semp2l1 UTSW 1 32,585,128 (GRCm39) missense probably benign 0.08
R2226:Semp2l1 UTSW 1 32,584,934 (GRCm39) missense probably damaging 1.00
R2422:Semp2l1 UTSW 1 32,584,942 (GRCm39) missense possibly damaging 0.73
R4901:Semp2l1 UTSW 1 32,585,701 (GRCm39) missense probably benign 0.00
R5129:Semp2l1 UTSW 1 32,584,561 (GRCm39) missense probably damaging 1.00
R5129:Semp2l1 UTSW 1 32,584,560 (GRCm39) missense probably damaging 1.00
R5184:Semp2l1 UTSW 1 32,584,729 (GRCm39) missense probably damaging 0.99
R5259:Semp2l1 UTSW 1 32,584,598 (GRCm39) nonsense probably null
R6271:Semp2l1 UTSW 1 32,584,572 (GRCm39) missense probably damaging 1.00
R6589:Semp2l1 UTSW 1 32,585,792 (GRCm39) missense probably benign 0.44
R6746:Semp2l1 UTSW 1 32,585,844 (GRCm39) missense probably benign
R7720:Semp2l1 UTSW 1 32,585,178 (GRCm39) missense probably benign 0.00
R7855:Semp2l1 UTSW 1 32,585,114 (GRCm39) missense probably damaging 0.96
R8006:Semp2l1 UTSW 1 32,586,005 (GRCm39) start gained probably benign
R8177:Semp2l1 UTSW 1 32,585,457 (GRCm39) missense probably benign
R8946:Semp2l1 UTSW 1 32,585,685 (GRCm39) missense probably benign 0.02
R9172:Semp2l1 UTSW 1 32,585,165 (GRCm39) missense probably benign
R9455:Semp2l1 UTSW 1 32,585,907 (GRCm39) start codon destroyed probably null
X0024:Semp2l1 UTSW 1 32,584,792 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- TCTCGTCTGGTGAAAGACATTC -3'
(R):5'- CTGGCAAGGCTCAAAAGATGAC -3'

Sequencing Primer
(F):5'- CCACAACAGTAGATGGTTCTGGATC -3'
(R):5'- AGATGACCCCTCAGGAGC -3'
Posted On 2015-11-11