Incidental Mutation 'R8165:Sel1l2'
ID 633703
Institutional Source Beutler Lab
Gene Symbol Sel1l2
Ensembl Gene ENSMUSG00000074764
Gene Name sel-1 suppressor of lin-12-like 2 (C. elegans)
Synonyms LOC228684
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 140071775-140231626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140104626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 306 (L306F)
Ref Sequence ENSEMBL: ENSMUSP00000113800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122367]
AlphaFold Q3V172
Predicted Effect probably damaging
Transcript: ENSMUST00000122367
AA Change: L306F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: L306F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 70 83 N/A INTRINSIC
SEL1 107 142 1.99e2 SMART
SEL1 143 178 3.3e1 SMART
SEL1 179 214 5.7e-1 SMART
SEL1 215 250 6.3e-3 SMART
SEL1 297 333 6.59e-6 SMART
SEL1 334 370 1.32e-5 SMART
SEL1 371 406 4.55e-9 SMART
SEL1 407 442 4.02e-10 SMART
SEL1 443 478 2.72e-7 SMART
Blast:SEL1 511 550 9e-13 BLAST
SEL1 551 586 1.01e-6 SMART
SEL1 588 623 4.55e-9 SMART
transmembrane domain 661 683 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Sel1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Sel1l2 APN 2 140,085,864 (GRCm39) missense possibly damaging 0.95
IGL01782:Sel1l2 APN 2 140,085,855 (GRCm39) missense probably damaging 1.00
IGL02238:Sel1l2 APN 2 140,089,859 (GRCm39) missense probably damaging 1.00
IGL02506:Sel1l2 APN 2 140,117,380 (GRCm39) missense possibly damaging 0.89
IGL02539:Sel1l2 APN 2 140,072,778 (GRCm39) missense probably damaging 1.00
IGL02999:Sel1l2 APN 2 140,072,724 (GRCm39) missense probably damaging 1.00
IGL03388:Sel1l2 APN 2 140,105,284 (GRCm39) splice site probably benign
IGL02988:Sel1l2 UTSW 2 140,090,508 (GRCm39) missense probably damaging 1.00
R0386:Sel1l2 UTSW 2 140,117,361 (GRCm39) missense probably benign 0.11
R0426:Sel1l2 UTSW 2 140,082,832 (GRCm39) nonsense probably null
R0549:Sel1l2 UTSW 2 140,107,802 (GRCm39) missense probably damaging 0.99
R1404:Sel1l2 UTSW 2 140,071,979 (GRCm39) splice site probably benign
R1502:Sel1l2 UTSW 2 140,231,515 (GRCm39) missense probably damaging 0.99
R1746:Sel1l2 UTSW 2 140,127,157 (GRCm39) missense probably damaging 0.98
R2187:Sel1l2 UTSW 2 140,072,793 (GRCm39) missense probably damaging 1.00
R2233:Sel1l2 UTSW 2 140,086,085 (GRCm39) missense probably damaging 1.00
R2235:Sel1l2 UTSW 2 140,086,085 (GRCm39) missense probably damaging 1.00
R3402:Sel1l2 UTSW 2 140,082,958 (GRCm39) missense probably damaging 1.00
R4717:Sel1l2 UTSW 2 140,071,943 (GRCm39) missense possibly damaging 0.89
R4724:Sel1l2 UTSW 2 140,082,847 (GRCm39) missense probably damaging 0.99
R4840:Sel1l2 UTSW 2 140,105,390 (GRCm39) missense probably benign 0.00
R4948:Sel1l2 UTSW 2 140,086,086 (GRCm39) missense probably damaging 1.00
R6008:Sel1l2 UTSW 2 140,086,025 (GRCm39) missense probably damaging 1.00
R6058:Sel1l2 UTSW 2 140,082,889 (GRCm39) missense possibly damaging 0.94
R6389:Sel1l2 UTSW 2 140,087,274 (GRCm39) missense probably damaging 1.00
R7031:Sel1l2 UTSW 2 140,182,043 (GRCm39) missense possibly damaging 0.84
R7056:Sel1l2 UTSW 2 140,087,334 (GRCm39) missense probably benign 0.13
R7074:Sel1l2 UTSW 2 140,105,362 (GRCm39) missense probably damaging 1.00
R7213:Sel1l2 UTSW 2 140,086,055 (GRCm39) missense probably damaging 1.00
R7348:Sel1l2 UTSW 2 140,107,644 (GRCm39) missense probably benign
R8030:Sel1l2 UTSW 2 140,082,938 (GRCm39) missense probably damaging 0.97
R8100:Sel1l2 UTSW 2 140,117,329 (GRCm39) missense probably damaging 1.00
R8201:Sel1l2 UTSW 2 140,108,312 (GRCm39) missense probably damaging 1.00
R8343:Sel1l2 UTSW 2 140,072,753 (GRCm39) missense probably benign 0.03
R8968:Sel1l2 UTSW 2 140,127,209 (GRCm39) missense probably benign 0.14
R9038:Sel1l2 UTSW 2 140,117,384 (GRCm39) missense probably damaging 1.00
R9226:Sel1l2 UTSW 2 140,097,222 (GRCm39) missense probably damaging 1.00
X0019:Sel1l2 UTSW 2 140,090,535 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGCAGCTCTGACCAAAGC -3'
(R):5'- TTCTAAGGAAGCCATATGCCTAG -3'

Sequencing Primer
(F):5'- CTCTGACCAAAGCAGCAGTTGTG -3'
(R):5'- TGCCTAGTAGCAACTGACCAC -3'
Posted On 2020-07-13