Incidental Mutation 'R9455:Semp2l1'
ID 714506
Institutional Source Beutler Lab
Gene Symbol Semp2l1
Ensembl Gene ENSMUSG00000091318
Gene Name SUMO/sentrin specific peptidase 2-like 1
Synonyms Gm5415
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R9455 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 32582767-32586375 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 32585907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
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 probably null
Transcript: ENSMUST00000171322
AA Change: M1K
SMART Domains Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 137 150 N/A INTRINSIC
Pfam:Peptidase_C48 298 477 7.4e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,897 (GRCm39) Y3740H probably damaging Het
Acsl6 G T 11: 54,210,752 (GRCm39) probably benign Het
Adamts5 C T 16: 85,667,017 (GRCm39) D492N probably damaging Het
Als2 T C 1: 59,219,296 (GRCm39) E1218G probably damaging Het
Bcl2l15 C T 3: 103,743,369 (GRCm39) T90I unknown Het
Bsn A G 9: 107,988,531 (GRCm39) V2407A unknown Het
Casp8ap2 T C 4: 32,643,924 (GRCm39) M999T possibly damaging Het
Ccdc66 G A 14: 27,208,872 (GRCm39) P461S probably benign Het
Cd46 G A 1: 194,744,704 (GRCm39) L345F possibly damaging Het
Cep295 A T 9: 15,245,046 (GRCm39) S1137T possibly damaging Het
Chd7 A G 4: 8,752,061 (GRCm39) Y186C unknown Het
Clca3b T A 3: 144,529,023 (GRCm39) T884S unknown Het
Cndp2 T A 18: 84,690,246 (GRCm39) Y232F probably benign Het
Cx3cr1 A T 9: 119,880,659 (GRCm39) Y248N probably damaging Het
Dnm3 A T 1: 162,148,524 (GRCm39) N282K possibly damaging Het
Emilin2 T C 17: 71,581,485 (GRCm39) I414V probably benign Het
F3 A T 3: 121,527,866 (GRCm39) N288I probably damaging Het
Fat4 T C 3: 38,945,412 (GRCm39) L1435P Het
Fbxw14 A T 9: 109,103,567 (GRCm39) N371K probably benign Het
Firrm G T 1: 163,781,721 (GRCm39) T902K probably benign Het
Fn1 T A 1: 71,647,112 (GRCm39) E1559D probably benign Het
Frrs1 T A 3: 116,695,972 (GRCm39) M497K possibly damaging Het
Gm45861 C T 8: 28,041,394 (GRCm39) Q1000* probably null Het
Gpr152 T C 19: 4,193,844 (GRCm39) S462P probably benign Het
Irgq A G 7: 24,231,217 (GRCm39) N136S probably benign Het
Kdm2b T C 5: 123,099,537 (GRCm39) Y134C probably damaging Het
Klf12 A T 14: 100,347,226 (GRCm39) L35H probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Ksr1 A T 11: 78,911,602 (GRCm39) C727S possibly damaging Het
Lpin3 G T 2: 160,737,259 (GRCm39) R102L probably benign Het
Ltv1 T C 10: 13,058,117 (GRCm39) E229G probably damaging Het
Ly6f T A 15: 75,141,648 (GRCm39) Y30* probably null Het
Map2k7 C G 8: 4,293,957 (GRCm39) R168G probably damaging Het
Mep1a T C 17: 43,805,867 (GRCm39) E100G probably benign Het
Mrgpra6 T A 7: 46,838,967 (GRCm39) Y46F probably damaging Het
Mroh6 C A 15: 75,759,905 (GRCm39) R143L probably benign Het
Myom2 T A 8: 15,156,293 (GRCm39) H713Q probably benign Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Or51b6 G T 7: 103,556,200 (GRCm39) V182F Het
Pear1 T A 3: 87,666,488 (GRCm39) T72S possibly damaging Het
Sel1l3 T A 5: 53,289,157 (GRCm39) N888I probably damaging Het
Sell A T 1: 163,894,218 (GRCm39) T171S probably benign Het
Sin3b G T 8: 73,450,681 (GRCm39) A37S possibly damaging Het
Sipa1l1 T C 12: 82,434,399 (GRCm39) F723S probably damaging Het
Slc26a8 T C 17: 28,863,588 (GRCm39) T724A probably damaging Het
Slc51a T G 16: 32,305,013 (GRCm39) N25H probably damaging Het
Slc9a4 T C 1: 40,668,612 (GRCm39) F752L probably benign Het
Slco4a1 A C 2: 180,115,370 (GRCm39) D649A probably benign Het
Tax1bp1 T A 6: 52,743,029 (GRCm39) H805Q probably damaging Het
Tgfb1i1 T C 7: 127,852,009 (GRCm39) F303L probably damaging Het
Tsg101 A T 7: 46,563,151 (GRCm39) D34E probably damaging Het
Tspoap1 T C 11: 87,661,359 (GRCm39) S604P probably damaging Het
Ttll2 C A 17: 7,619,692 (GRCm39) W78C probably damaging Het
Ttn A G 2: 76,749,334 (GRCm39) F3905S possibly damaging Het
Txnrd2 G T 16: 18,248,615 (GRCm39) C57F probably damaging Het
Vcan A T 13: 89,837,452 (GRCm39) D2697E probably damaging Het
Vwa8 G A 14: 79,300,115 (GRCm39) V983I probably damaging 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
R4761:Semp2l1 UTSW 1 32,585,588 (GRCm39) missense possibly damaging 0.51
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
X0024:Semp2l1 UTSW 1 32,584,792 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- TGGGATTTCCGTACCTGACC -3'
(R):5'- TTGCGACCTTGAACCAACCATC -3'

Sequencing Primer
(F):5'- CTATAGCAAGCTCTAGGTCTGGAG -3'
(R):5'- CTACTGGAAAAAGTGATTCTTCAGTG -3'
Posted On 2022-06-15