Incidental Mutation 'IGL02930:Sel1l3'
ID 364051
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 # IGL02930
Quality Score
Status
Chromosome 5
Chromosomal Location 53264425-53370794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 53280559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 937 (V937G)
Ref Sequence ENSEMBL: ENSMUSP00000031090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031090]
AlphaFold Q80TS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000031090
AA Change: V937G

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: V937G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,328,226 (GRCm39) N3433S possibly damaging Het
Actl9 T C 17: 33,653,073 (GRCm39) S378P probably damaging Het
Aldh6a1 C A 12: 84,480,756 (GRCm39) L426F possibly damaging Het
Ankef1 T C 2: 136,392,245 (GRCm39) I478T possibly damaging Het
Cabs1 A G 5: 88,127,745 (GRCm39) D132G probably damaging Het
Ccdc39 T C 3: 33,879,643 (GRCm39) E475G probably damaging Het
Cmtm2b A C 8: 105,056,402 (GRCm39) M104L probably benign Het
Cops2 T C 2: 125,674,109 (GRCm39) probably benign Het
Dnajc4 C A 19: 6,966,801 (GRCm39) V176F possibly damaging Het
Eepd1 A G 9: 25,394,536 (GRCm39) N267D probably damaging Het
Elobl T G 11: 88,856,012 (GRCm39) D17A possibly damaging Het
Erich6 G A 3: 58,529,775 (GRCm39) probably benign Het
Flna G A X: 73,267,506 (GRCm39) R2548C probably damaging Het
Gm6878 T G 14: 67,548,439 (GRCm39) probably benign Het
Gpc1 G T 1: 92,785,021 (GRCm39) E355* probably null Het
Islr C T 9: 58,065,483 (GRCm39) probably benign Het
Mex3a A T 3: 88,443,532 (GRCm39) I203L probably benign Het
Or5p58 A T 7: 107,694,621 (GRCm39) I52N probably damaging Het
Or6c88 T C 10: 129,407,184 (GRCm39) I220T probably damaging Het
Or8g24 G T 9: 38,989,308 (GRCm39) H244Q probably damaging Het
Prokr2 T C 2: 132,215,394 (GRCm39) S195G probably benign Het
Pyroxd1 A T 6: 142,304,778 (GRCm39) D335V probably damaging Het
Rps6kl1 T C 12: 85,196,548 (GRCm39) T39A probably benign Het
Rusc2 G A 4: 43,416,376 (GRCm39) A561T probably damaging Het
Sh3pxd2b A G 11: 32,367,161 (GRCm39) T382A possibly damaging Het
Tbx21 A G 11: 96,990,865 (GRCm39) I271T probably damaging Het
Timeless T C 10: 128,083,060 (GRCm39) V632A probably benign Het
Tle3 A G 9: 61,301,981 (GRCm39) N67S possibly damaging Het
Tln2 G A 9: 67,300,944 (GRCm39) R95* probably null Het
Trim24 A G 6: 37,928,380 (GRCm39) probably benign Het
Uggt1 A T 1: 36,196,537 (GRCm39) D1253E probably benign Het
Vmn1r8 A G 6: 57,013,579 (GRCm39) K210R probably benign Het
Other mutations in Sel1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Sel1l3 APN 5 53,273,675 (GRCm39) missense probably damaging 0.96
IGL01585:Sel1l3 APN 5 53,311,578 (GRCm39) missense probably damaging 0.99
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
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 2015-12-18