Incidental Mutation 'R6132:Sel1l3'
ID 487173
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 044279-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 53264425-53370794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53357531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 154 (K154E)
Ref Sequence ENSEMBL: ENSMUSP00000031090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031090]
AlphaFold Q80TS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000031090
AA Change: K154E

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: K154E

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: ENSMUST00000199919
Meta Mutation Damage Score 0.1652 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGTCCATGTTCCACTCCAGG -3'
(R):5'- CGTGCGCAATGTCTCTGAAG -3'

Sequencing Primer
(F):5'- CACCTGATGATCTTTGAAAGGCCG -3'
(R):5'- CAATGTCTCTGAAGTCTCCGTGGAG -3'
Posted On 2017-10-10