Incidental Mutation 'R3402:Sel1l2'
ID 259214
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 040621-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R3402 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 140071775-140231626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140082958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 560 (Y560F)
Ref Sequence ENSEMBL: ENSMUSP00000113800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122367]
AlphaFold Q3V172
Predicted Effect probably damaging
Transcript: ENSMUST00000122367
AA Change: Y560F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: Y560F

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
Meta Mutation Damage Score 0.2181 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 A T 5: 89,849,592 (GRCm39) F609L probably benign Het
Adgrv1 T C 13: 81,691,661 (GRCm39) N1642S probably damaging Het
Afdn C T 17: 14,104,176 (GRCm39) R1156C probably damaging Het
Ark2c A G 18: 77,652,782 (GRCm39) V6A probably benign Het
Cactin G A 10: 81,161,709 (GRCm39) R747H probably benign Het
Col12a1 T C 9: 79,551,229 (GRCm39) E2129G probably damaging Het
Dennd4c C T 4: 86,692,780 (GRCm39) P97S probably damaging Het
Dnah3 A G 7: 119,566,879 (GRCm39) V2449A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Etl4 A T 2: 20,786,693 (GRCm39) H763L probably damaging Het
Hip1r A G 5: 124,135,046 (GRCm39) E394G probably damaging Het
Ift25 A G 4: 107,130,803 (GRCm39) probably null Het
Kat2b C T 17: 53,972,881 (GRCm39) P732S probably damaging Het
Myo16 A G 8: 10,434,719 (GRCm39) N387S probably benign Het
Nlrp4d A T 7: 10,096,781 (GRCm39) N906K probably damaging Het
Or1ad6 A G 11: 50,859,895 (GRCm39) I17V probably benign Het
Or5b120 G A 19: 13,480,312 (GRCm39) A202T probably benign Het
Pkn1 G A 8: 84,396,859 (GRCm39) R926W probably damaging Het
Ppp1r37 C T 7: 19,266,712 (GRCm39) A392T probably damaging Het
Prkcq A G 2: 11,288,660 (GRCm39) T538A possibly damaging Het
Slc6a6 A G 6: 91,703,110 (GRCm39) H161R probably benign Het
Slit2 T C 5: 48,440,763 (GRCm39) Y1212H probably damaging Het
Stk3 G T 15: 34,945,144 (GRCm39) probably benign Het
Tcaf3 T C 6: 42,570,787 (GRCm39) S322G probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tmem74 C T 15: 43,730,417 (GRCm39) V209M probably damaging Het
Unc80 A T 1: 66,549,845 (GRCm39) E701V probably damaging Het
Upk3a T C 15: 84,902,384 (GRCm39) probably null Het
Zfp180 G A 7: 23,805,170 (GRCm39) V530I 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
R2235:Sel1l2 UTSW 2 140,086,085 (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'- CAGCTGTCATTATTAGCTTTGAACC -3'
(R):5'- CAATGAAGACTGCTAGCATTAAGC -3'

Sequencing Primer
(F):5'- GCTTTGAACCAATGCAATTACC -3'
(R):5'- GAGTACATGTAATCGTGATATCGAG -3'
Posted On 2015-01-23