Incidental Mutation 'IGL01585:Sel1l3'
ID 93344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sel1l3
Ensembl Gene ENSMUSG00000029189
Gene Name sel-1 suppressor of lin-12-like 3 (C. elegans)
Synonyms 2310045A20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01585
Quality Score
Status
Chromosome 5
Chromosomal Location 53264425-53370794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53311578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 636 (Y636H)
Ref Sequence ENSEMBL: ENSMUSP00000031090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031090]
AlphaFold Q80TS8
Predicted Effect probably damaging
Transcript: ENSMUST00000031090
AA Change: Y636H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: Y636H

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,359,045 (GRCm39) D587G probably benign Het
Adcy1 T A 11: 7,117,143 (GRCm39) N1003K probably damaging Het
Alpk1 T C 3: 127,473,462 (GRCm39) D847G probably benign Het
Atp5f1a T C 18: 77,868,758 (GRCm39) V417A possibly damaging Het
Avp A C 2: 130,422,629 (GRCm39) S159A probably benign Het
Brca2 C A 5: 150,462,981 (GRCm39) A915D possibly damaging Het
Cdc42bpg G A 19: 6,370,462 (GRCm39) R1185H possibly damaging Het
Cdcp3 T G 7: 130,846,487 (GRCm39) V637G probably damaging Het
Clrn2 A G 5: 45,617,500 (GRCm39) I124V probably benign Het
Cntn4 A T 6: 106,595,289 (GRCm39) K469* probably null Het
Cxcl1 T A 5: 91,039,583 (GRCm39) N70K probably damaging Het
Dbf4 A G 5: 8,458,492 (GRCm39) probably null Het
Fbn1 A T 2: 125,202,030 (GRCm39) V1281E probably damaging Het
Fgfr3 A T 5: 33,891,305 (GRCm39) Q523L probably damaging Het
Golga5 A G 12: 102,445,954 (GRCm39) K403R probably benign Het
Gpr22 A G 12: 31,759,336 (GRCm39) I262T probably benign Het
Gstm3 G T 3: 107,873,474 (GRCm39) Q166K probably benign Het
Ilf2 T A 3: 90,391,849 (GRCm39) N183K probably damaging Het
Ip6k2 T A 9: 108,673,512 (GRCm39) L40Q probably damaging Het
Itga8 A T 2: 12,165,123 (GRCm39) probably benign Het
Lbr T A 1: 181,653,208 (GRCm39) R70* probably null Het
Lilra6 T C 7: 3,917,498 (GRCm39) T166A probably benign Het
Map3k4 T C 17: 12,467,846 (GRCm39) K1063E probably damaging Het
Msi1 T C 5: 115,568,949 (GRCm39) probably null Het
Pam A G 1: 97,792,197 (GRCm39) V408A probably damaging Het
Plxna1 A G 6: 89,306,538 (GRCm39) probably null Het
Ppp1r36 A T 12: 76,485,891 (GRCm39) probably null Het
Prrt4 A G 6: 29,177,689 (GRCm39) S27P probably benign Het
Psmg1 G A 16: 95,789,221 (GRCm39) T112I possibly damaging Het
Rfx7 T G 9: 72,524,343 (GRCm39) I511S probably benign Het
Ros1 G A 10: 52,031,198 (GRCm39) T481M probably damaging Het
Scfd1 A G 12: 51,462,336 (GRCm39) D397G probably damaging Het
Sgms1 T G 19: 32,120,245 (GRCm39) R220S probably damaging Het
Slc37a3 A T 6: 39,314,196 (GRCm39) I472N probably damaging Het
Syne2 A G 12: 75,995,834 (GRCm39) probably null Het
Tert T C 13: 73,782,463 (GRCm39) V579A probably benign Het
Ush2a A T 1: 188,162,924 (GRCm39) H1002L probably damaging Het
Other mutations in Sel1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Sel1l3 APN 5 53,273,675 (GRCm39) missense probably damaging 0.96
IGL01717:Sel1l3 APN 5 53,357,510 (GRCm39) missense probably damaging 0.99
IGL01771:Sel1l3 APN 5 53,279,183 (GRCm39) missense probably damaging 0.99
IGL01926:Sel1l3 APN 5 53,357,485 (GRCm39) missense probably benign 0.26
IGL01963:Sel1l3 APN 5 53,357,680 (GRCm39) missense probably damaging 0.99
IGL02000:Sel1l3 APN 5 53,302,835 (GRCm39) missense probably damaging 1.00
IGL02132:Sel1l3 APN 5 53,327,747 (GRCm39) missense possibly damaging 0.89
IGL02198:Sel1l3 APN 5 53,297,141 (GRCm39) splice site probably benign
IGL02930:Sel1l3 APN 5 53,280,559 (GRCm39) missense possibly damaging 0.65
IGL03146:Sel1l3 APN 5 53,311,585 (GRCm39) missense probably benign 0.00
IGL03175:Sel1l3 APN 5 53,279,199 (GRCm39) missense probably damaging 1.00
R0083:Sel1l3 UTSW 5 53,295,244 (GRCm39) missense possibly damaging 0.79
R0108:Sel1l3 UTSW 5 53,295,244 (GRCm39) missense possibly damaging 0.79
R0108:Sel1l3 UTSW 5 53,295,244 (GRCm39) missense possibly damaging 0.79
R0940:Sel1l3 UTSW 5 53,301,379 (GRCm39) splice site probably benign
R1027:Sel1l3 UTSW 5 53,302,820 (GRCm39) missense possibly damaging 0.68
R1117:Sel1l3 UTSW 5 53,329,949 (GRCm39) missense probably benign 0.00
R1145:Sel1l3 UTSW 5 53,289,169 (GRCm39) missense probably damaging 0.99
R1145:Sel1l3 UTSW 5 53,289,169 (GRCm39) missense probably damaging 0.99
R1146:Sel1l3 UTSW 5 53,274,445 (GRCm39) missense possibly damaging 0.79
R1146:Sel1l3 UTSW 5 53,274,445 (GRCm39) missense possibly damaging 0.79
R1345:Sel1l3 UTSW 5 53,357,559 (GRCm39) missense possibly damaging 0.86
R1370:Sel1l3 UTSW 5 53,357,559 (GRCm39) missense possibly damaging 0.86
R1503:Sel1l3 UTSW 5 53,295,271 (GRCm39) missense probably damaging 0.98
R1747:Sel1l3 UTSW 5 53,302,887 (GRCm39) missense possibly damaging 0.91
R1764:Sel1l3 UTSW 5 53,327,789 (GRCm39) nonsense probably null
R2872:Sel1l3 UTSW 5 53,295,225 (GRCm39) nonsense probably null
R2872:Sel1l3 UTSW 5 53,295,225 (GRCm39) nonsense probably null
R3434:Sel1l3 UTSW 5 53,274,432 (GRCm39) missense probably benign 0.44
R4043:Sel1l3 UTSW 5 53,345,396 (GRCm39) nonsense probably null
R4074:Sel1l3 UTSW 5 53,311,629 (GRCm39) missense probably damaging 0.99
R4727:Sel1l3 UTSW 5 53,301,525 (GRCm39) critical splice acceptor site probably null
R4788:Sel1l3 UTSW 5 53,289,175 (GRCm39) missense probably benign 0.41
R4900:Sel1l3 UTSW 5 53,289,184 (GRCm39) missense probably damaging 1.00
R5000:Sel1l3 UTSW 5 53,357,776 (GRCm39) missense probably damaging 0.97
R5090:Sel1l3 UTSW 5 53,357,388 (GRCm39) missense probably benign 0.03
R5330:Sel1l3 UTSW 5 53,343,351 (GRCm39) missense possibly damaging 0.80
R5456:Sel1l3 UTSW 5 53,357,378 (GRCm39) missense probably benign 0.13
R5544:Sel1l3 UTSW 5 53,357,644 (GRCm39) missense probably damaging 0.98
R5848:Sel1l3 UTSW 5 53,342,150 (GRCm39) missense possibly damaging 0.91
R6132:Sel1l3 UTSW 5 53,357,531 (GRCm39) missense possibly damaging 0.77
R6188:Sel1l3 UTSW 5 53,313,061 (GRCm39) missense possibly damaging 0.70
R6622:Sel1l3 UTSW 5 53,297,202 (GRCm39) missense probably damaging 0.98
R7015:Sel1l3 UTSW 5 53,329,916 (GRCm39) missense probably benign 0.03
R7200:Sel1l3 UTSW 5 53,301,451 (GRCm39) missense probably benign 0.22
R7271:Sel1l3 UTSW 5 53,273,704 (GRCm39) missense probably damaging 0.98
R7378:Sel1l3 UTSW 5 53,273,751 (GRCm39) missense probably benign 0.02
R7479:Sel1l3 UTSW 5 53,274,462 (GRCm39) missense probably damaging 0.99
R7563:Sel1l3 UTSW 5 53,343,326 (GRCm39) missense probably damaging 1.00
R7643:Sel1l3 UTSW 5 53,280,504 (GRCm39) splice site probably null
R7741:Sel1l3 UTSW 5 53,357,593 (GRCm39) missense probably damaging 1.00
R7743:Sel1l3 UTSW 5 53,293,227 (GRCm39) missense probably benign 0.07
R7861:Sel1l3 UTSW 5 53,301,406 (GRCm39) missense probably damaging 0.96
R7904:Sel1l3 UTSW 5 53,297,166 (GRCm39) missense probably benign 0.24
R8222:Sel1l3 UTSW 5 53,345,296 (GRCm39) critical splice donor site probably null
R8724:Sel1l3 UTSW 5 53,293,165 (GRCm39) nonsense probably null
R8788:Sel1l3 UTSW 5 53,332,148 (GRCm39) nonsense probably null
R8988:Sel1l3 UTSW 5 53,280,771 (GRCm39) missense probably damaging 0.96
R9111:Sel1l3 UTSW 5 53,279,213 (GRCm39) splice site probably benign
R9153:Sel1l3 UTSW 5 53,293,188 (GRCm39) missense probably benign 0.26
R9269:Sel1l3 UTSW 5 53,311,628 (GRCm39) missense probably damaging 1.00
R9399:Sel1l3 UTSW 5 53,265,486 (GRCm39) missense probably benign
R9455:Sel1l3 UTSW 5 53,289,157 (GRCm39) missense probably damaging 0.99
R9630:Sel1l3 UTSW 5 53,342,117 (GRCm39) missense possibly damaging 0.49
R9793:Sel1l3 UTSW 5 53,329,924 (GRCm39) missense probably benign 0.02
R9795:Sel1l3 UTSW 5 53,329,924 (GRCm39) missense probably benign 0.02
Z1088:Sel1l3 UTSW 5 53,273,538 (GRCm39) missense probably damaging 0.96
Posted On 2013-12-09