Incidental Mutation 'IGL03146:Sel1l3'
ID410933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sel1l3
Ensembl Gene ENSMUSG00000029189
Gene Namesel-1 suppressor of lin-12-like 3 (C. elegans)
Synonyms2310045A20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL03146
Quality Score
Status
Chromosome5
Chromosomal Location53107083-53213927 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 53154243 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 633 (E633D)
Ref Sequence ENSEMBL: ENSMUSP00000031090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031090]
Predicted Effect probably benign
Transcript: ENSMUST00000031090
AA Change: E633D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: E633D

DomainStartEndE-ValueType
low complexity region 11 33 N/A INTRINSIC
SEL1 575 609 3.39e1 SMART
SEL1 611 647 1.85e1 SMART
SEL1 694 730 5.27e-5 SMART
SEL1 732 767 2.94e-3 SMART
SEL1 768 800 5.32e-1 SMART
SEL1 801 839 1.23e-5 SMART
SEL1 840 877 8.55e1 SMART
SEL1 952 988 2.56e-3 SMART
low complexity region 1048 1058 N/A INTRINSIC
transmembrane domain 1065 1087 N/A INTRINSIC
low complexity region 1102 1127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196550
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A T 6: 50,573,873 V532E probably damaging Het
Adam5 T C 8: 24,804,503 D360G probably damaging Het
Adam6a A T 12: 113,545,524 T506S probably damaging Het
Adamts15 A G 9: 30,921,567 V224A probably damaging Het
Arhgef12 G T 9: 42,974,570 D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ccdc85c G A 12: 108,207,136 R387* probably null Het
Cfap57 T A 4: 118,599,019 I493F probably damaging Het
Chst9 A G 18: 15,452,978 I176T probably damaging Het
Clpx G T 9: 65,326,830 V572L probably benign Het
Csmd3 T A 15: 47,881,477 N1374I probably benign Het
Cyp2e1 T A 7: 140,770,221 M273K probably benign Het
Ehbp1l1 T C 19: 5,720,033 E414G probably benign Het
Ehd1 T C 19: 6,277,338 F122L probably damaging Het
Fcho1 A G 8: 71,717,430 probably benign Het
Fermt3 T C 19: 7,003,263 E312G possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
G3bp2 G A 5: 92,066,540 R132C probably damaging Het
Inpp4b A T 8: 81,743,781 I35F possibly damaging Het
Izumo3 T G 4: 92,145,039 I107L probably damaging Het
Lama3 C A 18: 12,527,624 Q484K possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mapkbp1 T C 2: 119,998,474 probably benign Het
Mast4 T C 13: 102,737,655 N1735S probably benign Het
Olfr1186 T A 2: 88,526,144 M187K possibly damaging Het
Olfr298 T C 7: 86,489,194 D119G probably damaging Het
Oxct1 T C 15: 4,101,148 L374P probably damaging Het
Parp14 G A 16: 35,858,453 Q382* probably null Het
Pax2 A G 19: 44,833,275 probably benign Het
Prkaa1 T C 15: 5,168,641 V146A probably damaging Het
Ptprb C T 10: 116,328,127 A900V probably benign Het
Rgs6 A T 12: 83,052,538 D130V probably damaging Het
Ryr1 C A 7: 29,094,032 R1344L probably benign Het
Scgb1b12 C A 7: 32,334,544 D76E possibly damaging Het
Slc1a7 T A 4: 107,992,992 I100N probably damaging Het
Slc25a35 A G 11: 68,968,852 K64E possibly damaging Het
Stil C A 4: 115,024,415 Q719K probably damaging Het
Stim1 T A 7: 102,421,355 L265Q probably damaging Het
Tcrg-V3 C A 13: 19,243,167 Y73* probably null Het
Tmem191c A G 16: 17,277,382 E169G probably damaging Het
Tmem255b T C 8: 13,454,174 L101P probably damaging Het
Zfyve26 G A 12: 79,284,072 Q458* probably null Het
Other mutations in Sel1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Sel1l3 APN 5 53116333 missense probably damaging 0.96
IGL01585:Sel1l3 APN 5 53154236 missense probably damaging 0.99
IGL01717:Sel1l3 APN 5 53200168 missense probably damaging 0.99
IGL01771:Sel1l3 APN 5 53121841 missense probably damaging 0.99
IGL01926:Sel1l3 APN 5 53200143 missense probably benign 0.26
IGL01963:Sel1l3 APN 5 53200338 missense probably damaging 0.99
IGL02000:Sel1l3 APN 5 53145493 missense probably damaging 1.00
IGL02132:Sel1l3 APN 5 53170405 missense possibly damaging 0.89
IGL02198:Sel1l3 APN 5 53139799 splice site probably benign
IGL02930:Sel1l3 APN 5 53123217 missense possibly damaging 0.65
IGL03175:Sel1l3 APN 5 53121857 missense probably damaging 1.00
R0083:Sel1l3 UTSW 5 53137902 missense possibly damaging 0.79
R0108:Sel1l3 UTSW 5 53137902 missense possibly damaging 0.79
R0108:Sel1l3 UTSW 5 53137902 missense possibly damaging 0.79
R0940:Sel1l3 UTSW 5 53144037 splice site probably benign
R1027:Sel1l3 UTSW 5 53145478 missense possibly damaging 0.68
R1117:Sel1l3 UTSW 5 53172607 missense probably benign 0.00
R1145:Sel1l3 UTSW 5 53131827 missense probably damaging 0.99
R1145:Sel1l3 UTSW 5 53131827 missense probably damaging 0.99
R1146:Sel1l3 UTSW 5 53117103 missense possibly damaging 0.79
R1146:Sel1l3 UTSW 5 53117103 missense possibly damaging 0.79
R1345:Sel1l3 UTSW 5 53200217 missense possibly damaging 0.86
R1370:Sel1l3 UTSW 5 53200217 missense possibly damaging 0.86
R1503:Sel1l3 UTSW 5 53137929 missense probably damaging 0.98
R1747:Sel1l3 UTSW 5 53145545 missense possibly damaging 0.91
R1764:Sel1l3 UTSW 5 53170447 nonsense probably null
R2872:Sel1l3 UTSW 5 53137883 nonsense probably null
R2872:Sel1l3 UTSW 5 53137883 nonsense probably null
R3434:Sel1l3 UTSW 5 53117090 missense probably benign 0.44
R4043:Sel1l3 UTSW 5 53188054 nonsense probably null
R4074:Sel1l3 UTSW 5 53154287 missense probably damaging 0.99
R4727:Sel1l3 UTSW 5 53144183 critical splice acceptor site probably null
R4788:Sel1l3 UTSW 5 53131833 missense probably benign 0.41
R4900:Sel1l3 UTSW 5 53131842 missense probably damaging 1.00
R5000:Sel1l3 UTSW 5 53200434 missense probably damaging 0.97
R5090:Sel1l3 UTSW 5 53200046 missense probably benign 0.03
R5330:Sel1l3 UTSW 5 53186009 missense possibly damaging 0.80
R5456:Sel1l3 UTSW 5 53200036 missense probably benign 0.13
R5544:Sel1l3 UTSW 5 53200302 missense probably damaging 0.98
R5848:Sel1l3 UTSW 5 53184808 missense possibly damaging 0.91
R6132:Sel1l3 UTSW 5 53200189 missense possibly damaging 0.77
R6188:Sel1l3 UTSW 5 53155719 missense possibly damaging 0.70
R6622:Sel1l3 UTSW 5 53139860 missense probably damaging 0.98
R7015:Sel1l3 UTSW 5 53172574 missense probably benign 0.03
Z1088:Sel1l3 UTSW 5 53116196 missense probably damaging 0.96
Posted On2016-08-02