Incidental Mutation 'R6188:Sel1l3'
ID 502308
Institutional Source Beutler Lab
Gene Symbol Sel1l3
Ensembl Gene ENSMUSG00000029189
Gene Name sel-1 suppressor of lin-12-like 3 (C. elegans)
Synonyms 2310045A20Rik
MMRRC Submission 044328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6188 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 53264425-53370794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 53313061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 542 (I542R)
Ref Sequence ENSEMBL: ENSMUSP00000031090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031090]
AlphaFold Q80TS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000031090
AA Change: I542R

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: I542R

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,850 (GRCm39) I88F possibly damaging Het
4930407I10Rik T C 15: 81,943,471 (GRCm39) S28P probably benign Het
a A T 2: 154,889,602 (GRCm39) N56I probably damaging Het
Apoe C A 7: 19,432,305 (GRCm39) probably benign Het
Aspm C A 1: 139,406,977 (GRCm39) R1955S possibly damaging Het
Boc G A 16: 44,319,911 (GRCm39) L358F possibly damaging Het
Cadm2 A T 16: 66,612,195 (GRCm39) probably null Het
Ccdc183 T C 2: 25,499,764 (GRCm39) E384G probably benign Het
Ccl12 A G 11: 81,993,943 (GRCm39) T67A probably damaging Het
Cep120 T C 18: 53,857,529 (GRCm39) D312G probably benign Het
Cmya5 A G 13: 93,229,952 (GRCm39) V1712A possibly damaging Het
Cmya5 A G 13: 93,233,784 (GRCm39) S435P possibly damaging Het
Dmbt1 A T 7: 130,699,361 (GRCm39) N997Y probably damaging Het
Dock2 T A 11: 34,453,396 (GRCm39) I86F probably damaging Het
Duox1 A G 2: 122,150,275 (GRCm39) Q168R probably benign Het
Epb41l4a T A 18: 33,965,718 (GRCm39) I370L probably benign Het
Erc2 T A 14: 28,039,208 (GRCm39) D950E probably damaging Het
Exoc6b A G 6: 84,832,479 (GRCm39) V405A probably damaging Het
F13a1 T C 13: 37,209,752 (GRCm39) D71G probably benign Het
Fam151a A T 4: 106,602,696 (GRCm39) Y205F possibly damaging Het
Fcnb C A 2: 27,969,202 (GRCm39) R165M possibly damaging Het
Fndc3a C T 14: 72,827,401 (GRCm39) V50I probably damaging Het
Gm13276 C T 4: 88,704,096 (GRCm39) Q51* probably null Het
Grik1 T C 16: 87,852,959 (GRCm39) T75A probably benign Het
Grip2 A G 6: 91,740,514 (GRCm39) L1015P probably damaging Het
Hnrnpk A G 13: 58,541,967 (GRCm39) F339L probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Kars1 C T 8: 112,735,113 (GRCm39) probably null Het
Kpna7 G T 5: 144,929,654 (GRCm39) N390K probably damaging Het
Krt36 A T 11: 99,993,246 (GRCm39) S410T probably benign Het
Lingo4 A G 3: 94,310,157 (GRCm39) E365G probably damaging Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Lmbrd1 C A 1: 24,750,626 (GRCm39) N166K probably benign Het
Lypd9 T C 11: 58,337,182 (GRCm39) E97G probably benign Het
Nup155 T C 15: 8,139,059 (GRCm39) S44P probably damaging Het
Or2m12 A G 16: 19,105,307 (GRCm39) M62T probably damaging Het
Or4a72 A T 2: 89,405,538 (GRCm39) C177* probably null Het
Or5a3 A G 19: 12,399,974 (GRCm39) I100M probably benign Het
Pcdhga6 T C 18: 37,841,324 (GRCm39) V348A probably benign Het
Phc3 G A 3: 30,991,198 (GRCm39) Q295* probably null Het
Phyh A G 2: 4,932,301 (GRCm39) E129G probably damaging Het
Polb A G 8: 23,137,463 (GRCm39) S96P probably damaging Het
Ppp1r9a A T 6: 5,158,113 (GRCm39) K1174* probably null Het
Ppp1r9b C T 11: 94,882,662 (GRCm39) R97W probably damaging Het
Pttg1ip T C 10: 77,418,342 (GRCm39) probably null Het
Pygm G A 19: 6,447,967 (GRCm39) probably null Het
Rgs20 GGAGAGAG GGAGAG 1: 5,091,106 (GRCm39) probably null Het
Rlf T C 4: 121,027,963 (GRCm39) H111R probably damaging Het
Rmdn3 A G 2: 118,969,831 (GRCm39) probably null Het
Ror2 T A 13: 53,265,347 (GRCm39) T570S probably damaging Het
Serpinb3d A G 1: 107,006,237 (GRCm39) F284L probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A G 15: 96,590,397 (GRCm39) probably null Het
Spata31e2 T A 1: 26,724,784 (GRCm39) Y132F probably damaging Het
Spata31h1 A G 10: 82,121,091 (GRCm39) I3973T probably damaging Het
Tet2 T C 3: 133,186,087 (GRCm39) S1117G probably benign Het
Trav15-1-dv6-1 C T 14: 53,797,414 (GRCm39) A21V probably damaging Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn1r220 A T 13: 23,368,084 (GRCm39) L204H probably damaging Het
Vmn1r3 A T 4: 3,185,017 (GRCm39) S97T probably damaging Het
Zfp599 A G 9: 22,161,286 (GRCm39) F293S probably damaging Het
Zfp983 A G 17: 21,877,935 (GRCm39) Y46C probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TACTCCACCTGCAGCTGATC -3'
(R):5'- AGACTGACACCACAGCTTTC -3'

Sequencing Primer
(F):5'- GATCCCGAGGTCCATTTAATCCAG -3'
(R):5'- AGGGTTTAATTTACTTCCCCAGAGG -3'
Posted On 2018-02-27