Incidental Mutation 'R2235:Sel1l2'
ID 240374
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 040236-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R2235 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 140071775-140231626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140086085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 502 (Y502C)
Ref Sequence ENSEMBL: ENSMUSP00000113800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122367]
AlphaFold Q3V172
Predicted Effect probably damaging
Transcript: ENSMUST00000122367
AA Change: Y502C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: Y502C

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,619,023 (GRCm39) V256A probably benign Het
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adcy2 A T 13: 68,816,611 (GRCm39) Y792N probably damaging Het
Alpk1 T C 3: 127,474,569 (GRCm39) K478R probably benign Het
Atad2b T G 12: 5,056,745 (GRCm39) F867C probably damaging Het
Bach1 A G 16: 87,517,001 (GRCm39) D514G probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Chrm4 A G 2: 91,758,875 (GRCm39) S428G probably benign Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cldn34b3 A T X: 75,310,830 (GRCm39) I133F probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Cts6 T A 13: 61,343,247 (GRCm39) I325F probably damaging Het
Dnah6 T C 6: 73,077,068 (GRCm39) D2347G probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
E2f4 T A 8: 106,025,283 (GRCm39) V121E probably damaging Het
Fhip1a A T 3: 85,568,408 (GRCm39) L1037Q probably damaging Het
Fndc11 A G 2: 180,864,067 (GRCm39) S291G possibly damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hyou1 C T 9: 44,300,388 (GRCm39) T855M probably benign Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kcnab1 T A 3: 65,226,888 (GRCm39) V189D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc49 A T 9: 60,505,440 (GRCm39) F538L possibly damaging Het
Ly6h A G 15: 75,437,038 (GRCm39) S113P probably benign Het
Mto1 A C 9: 78,364,846 (GRCm39) T362P possibly damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Or10a3 A G 7: 108,480,172 (GRCm39) F214L probably benign Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Osbpl6 T C 2: 76,417,113 (GRCm39) F577L probably damaging Het
Otc A G X: 10,169,606 (GRCm39) Q216R probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Pld3 G A 7: 27,240,532 (GRCm39) T136M probably benign Het
Prph2 A T 17: 47,222,092 (GRCm39) D157V probably damaging Het
Racgap1 A G 15: 99,524,417 (GRCm39) S357P probably benign Het
Ralgapa1 A T 12: 55,763,856 (GRCm39) H1403Q probably benign Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sis A T 3: 72,820,527 (GRCm39) F1412L probably benign Het
Slc4a11 T C 2: 130,527,544 (GRCm39) E617G probably benign Het
Smap1 T C 1: 23,898,139 (GRCm39) N99S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Sox4 C T 13: 29,136,613 (GRCm39) R131Q probably damaging Het
Spaca6 T C 17: 18,058,507 (GRCm39) probably null Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tpr T A 1: 150,317,843 (GRCm39) F2117Y probably benign Het
Traf5 T C 1: 191,738,806 (GRCm39) M125V probably damaging Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Ubp1 T G 9: 113,793,712 (GRCm39) S340R probably damaging Het
Vit T C 17: 78,912,867 (GRCm39) S267P probably benign Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Zfp990 T A 4: 145,264,461 (GRCm39) H486Q probably damaging Het
Zkscan6 T C 11: 65,719,098 (GRCm39) S373P probably benign 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
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
R8165:Sel1l2 UTSW 2 140,104,626 (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'- TCGGTTCCATAGCAGAAGTG -3'
(R):5'- GAAGTCCACAGGGCAGTATG -3'

Sequencing Primer
(F):5'- GGATACAACTTCTCTTTCCCCAG -3'
(R):5'- TGTGGGATGACGCTAACTAACCTC -3'
Posted On 2014-10-15