Incidental Mutation 'R6058:Sel1l2'
ID 483038
Institutional Source Beutler Lab
Gene Symbol Sel1l2
Ensembl Gene ENSMUSG00000074764
Gene Name sel-1 suppressor of lin-12-like 2 (C. elegans)
Synonyms LOC228684
MMRRC Submission 044224-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R6058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 140071775-140231626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140082889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 583 (D583V)
Ref Sequence ENSEMBL: ENSMUSP00000113800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122367]
AlphaFold Q3V172
Predicted Effect possibly damaging
Transcript: ENSMUST00000122367
AA Change: D583V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: D583V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 70 83 N/A INTRINSIC
SEL1 107 142 1.99e2 SMART
SEL1 143 178 3.3e1 SMART
SEL1 179 214 5.7e-1 SMART
SEL1 215 250 6.3e-3 SMART
SEL1 297 333 6.59e-6 SMART
SEL1 334 370 1.32e-5 SMART
SEL1 371 406 4.55e-9 SMART
SEL1 407 442 4.02e-10 SMART
SEL1 443 478 2.72e-7 SMART
Blast:SEL1 511 550 9e-13 BLAST
SEL1 551 586 1.01e-6 SMART
SEL1 588 623 4.55e-9 SMART
transmembrane domain 661 683 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adamts20 G A 15: 94,227,928 (GRCm39) R1040* probably null Het
Akt1 A G 12: 112,628,634 (GRCm39) L52P probably damaging Het
Alk T A 17: 72,176,742 (GRCm39) T1521S probably benign Het
Armt1 A G 10: 4,403,488 (GRCm39) N191S probably damaging Het
Ascl1 T G 10: 87,328,562 (GRCm39) N130T probably damaging Het
Bahcc1 T G 11: 120,178,211 (GRCm39) S2257A probably damaging Het
Cd86 T C 16: 36,449,377 (GRCm39) M7V possibly damaging Het
Cep57 A T 9: 13,722,057 (GRCm39) S304R possibly damaging Het
Cep57l1 A T 10: 41,616,918 (GRCm39) I123N possibly damaging Het
Cers6 A G 2: 68,692,008 (GRCm39) N10S probably benign Het
Chrng A G 1: 87,139,074 (GRCm39) D475G probably damaging Het
Crabp1 T A 9: 54,680,129 (GRCm39) V128E probably damaging Het
Csnk2a1-ps3 T C 1: 156,352,425 (GRCm39) Y209H probably damaging Het
Dcdc2a T C 13: 25,240,354 (GRCm39) V34A possibly damaging Het
Eeig1 G A 2: 32,450,102 (GRCm39) V117I probably benign Het
Fbn1 A G 2: 125,308,532 (GRCm39) C177R possibly damaging Het
Fras1 A G 5: 96,857,844 (GRCm39) D2046G probably benign Het
Glul T C 1: 153,783,087 (GRCm39) I220T probably benign Het
Gpc6 C T 14: 118,202,182 (GRCm39) T464M probably damaging Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
H2-K2 G T 17: 34,218,304 (GRCm39) T204K probably benign Het
H2-K2 T C 17: 34,218,305 (GRCm39) T204A probably benign Het
Hecw2 T C 1: 53,963,135 (GRCm39) H792R possibly damaging Het
Herc4 T A 10: 63,110,821 (GRCm39) I244K possibly damaging Het
Hsd11b2 G T 8: 106,249,966 (GRCm39) R359L possibly damaging Het
Igsf9 G A 1: 172,312,456 (GRCm39) E56K probably damaging Het
Il9 T C 13: 56,628,495 (GRCm39) T65A possibly damaging Het
Kcnip1 T C 11: 33,592,478 (GRCm39) T102A probably damaging Het
L3mbtl2 T C 15: 81,551,555 (GRCm39) S74P probably benign Het
Lamc2 C T 1: 153,012,575 (GRCm39) D700N probably benign Het
Ldb2 T C 5: 44,633,905 (GRCm39) T322A possibly damaging Het
Lix1 A T 17: 17,664,012 (GRCm39) I117F probably damaging Het
Map2 T A 1: 66,454,573 (GRCm39) D1154E probably benign Het
Marco A T 1: 120,404,435 (GRCm39) I425N probably damaging Het
Mark4 T C 7: 19,160,310 (GRCm39) E650G probably benign Het
Mink1 A G 11: 70,502,546 (GRCm39) T1086A possibly damaging Het
Nxf1 G A 19: 8,745,186 (GRCm39) V479M probably damaging Het
Or10v1 T A 19: 11,873,388 (GRCm39) M1K probably null Het
Or11g2 T C 14: 50,856,158 (GRCm39) F160L probably benign Het
Or2n1e A G 17: 38,586,150 (GRCm39) T163A probably damaging Het
Or5h23 T C 16: 58,906,273 (GRCm39) D191G probably damaging Het
Or5h23 A G 16: 58,906,792 (GRCm39) V18A probably benign Het
Or6c5 T C 10: 129,074,329 (GRCm39) S104P probably damaging Het
Otx2 T C 14: 48,896,215 (GRCm39) D281G probably damaging Het
Pcdhga3 A T 18: 37,808,141 (GRCm39) D198V probably damaging Het
Ppp1r13l T C 7: 19,104,500 (GRCm39) V273A probably benign Het
Ppp6r2 T C 15: 89,137,455 (GRCm39) probably null Het
Pramel51 T A 12: 88,143,995 (GRCm39) I273F possibly damaging Het
Prg4 C T 1: 150,327,197 (GRCm39) G873D probably damaging Het
Ptprq T C 10: 107,471,135 (GRCm39) N1422S probably benign Het
Rbm27 A T 18: 42,460,570 (GRCm39) K839M probably damaging Het
Rere A T 4: 150,553,255 (GRCm39) N149I probably damaging Het
Ret A G 6: 118,156,280 (GRCm39) L340S probably benign Het
Shroom1 A T 11: 53,354,308 (GRCm39) D76V possibly damaging Het
Slc5a3 C A 16: 91,875,963 (GRCm39) S673R probably benign Het
Spink1 A T 18: 43,861,247 (GRCm39) I74N probably damaging Het
Tbc1d1 T A 5: 64,435,352 (GRCm39) S497T probably damaging Het
Trim3 C T 7: 105,260,278 (GRCm39) R741Q probably damaging Het
Ttn A G 2: 76,747,022 (GRCm39) C4676R probably benign Het
Ubqlnl G A 7: 103,797,959 (GRCm39) P513S probably benign Het
Unc13d C T 11: 115,964,394 (GRCm39) probably null Het
Vmn1r125 TGG TG 7: 21,006,144 (GRCm39) probably null Het
Vmn2r7 A T 3: 64,632,436 (GRCm39) C9S probably benign Het
Xdh T A 17: 74,213,264 (GRCm39) M829L probably damaging Het
Zcrb1 A G 15: 93,285,463 (GRCm39) F173L probably benign Het
Zfp41 T C 15: 75,490,372 (GRCm39) V108A probably damaging Het
Zfp438 T C 18: 5,213,209 (GRCm39) E583G probably damaging Het
Zfp628 T C 7: 4,923,917 (GRCm39) L713P probably damaging Het
Zfp664 T A 5: 124,963,042 (GRCm39) C145* probably null Het
Zfp683 T C 4: 133,786,042 (GRCm39) C390R probably damaging Het
Zfp941 G A 7: 140,392,010 (GRCm39) P450S probably damaging Het
Other mutations in Sel1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Sel1l2 APN 2 140,085,864 (GRCm39) missense possibly damaging 0.95
IGL01782:Sel1l2 APN 2 140,085,855 (GRCm39) missense probably damaging 1.00
IGL02238:Sel1l2 APN 2 140,089,859 (GRCm39) missense probably damaging 1.00
IGL02506:Sel1l2 APN 2 140,117,380 (GRCm39) missense possibly damaging 0.89
IGL02539:Sel1l2 APN 2 140,072,778 (GRCm39) missense probably damaging 1.00
IGL02999:Sel1l2 APN 2 140,072,724 (GRCm39) missense probably damaging 1.00
IGL03388:Sel1l2 APN 2 140,105,284 (GRCm39) splice site probably benign
IGL02988:Sel1l2 UTSW 2 140,090,508 (GRCm39) missense probably damaging 1.00
R0386:Sel1l2 UTSW 2 140,117,361 (GRCm39) missense probably benign 0.11
R0426:Sel1l2 UTSW 2 140,082,832 (GRCm39) nonsense probably null
R0549:Sel1l2 UTSW 2 140,107,802 (GRCm39) missense probably damaging 0.99
R1404:Sel1l2 UTSW 2 140,071,979 (GRCm39) splice site probably benign
R1502:Sel1l2 UTSW 2 140,231,515 (GRCm39) missense probably damaging 0.99
R1746:Sel1l2 UTSW 2 140,127,157 (GRCm39) missense probably damaging 0.98
R2187:Sel1l2 UTSW 2 140,072,793 (GRCm39) missense probably damaging 1.00
R2233:Sel1l2 UTSW 2 140,086,085 (GRCm39) missense probably damaging 1.00
R2235:Sel1l2 UTSW 2 140,086,085 (GRCm39) missense probably damaging 1.00
R3402:Sel1l2 UTSW 2 140,082,958 (GRCm39) missense probably damaging 1.00
R4717:Sel1l2 UTSW 2 140,071,943 (GRCm39) missense possibly damaging 0.89
R4724:Sel1l2 UTSW 2 140,082,847 (GRCm39) missense probably damaging 0.99
R4840:Sel1l2 UTSW 2 140,105,390 (GRCm39) missense probably benign 0.00
R4948:Sel1l2 UTSW 2 140,086,086 (GRCm39) missense probably damaging 1.00
R6008:Sel1l2 UTSW 2 140,086,025 (GRCm39) missense probably damaging 1.00
R6389:Sel1l2 UTSW 2 140,087,274 (GRCm39) missense probably damaging 1.00
R7031:Sel1l2 UTSW 2 140,182,043 (GRCm39) missense possibly damaging 0.84
R7056:Sel1l2 UTSW 2 140,087,334 (GRCm39) missense probably benign 0.13
R7074:Sel1l2 UTSW 2 140,105,362 (GRCm39) missense probably damaging 1.00
R7213:Sel1l2 UTSW 2 140,086,055 (GRCm39) missense probably damaging 1.00
R7348:Sel1l2 UTSW 2 140,107,644 (GRCm39) missense probably benign
R8030:Sel1l2 UTSW 2 140,082,938 (GRCm39) missense probably damaging 0.97
R8100:Sel1l2 UTSW 2 140,117,329 (GRCm39) missense probably damaging 1.00
R8165:Sel1l2 UTSW 2 140,104,626 (GRCm39) missense probably damaging 1.00
R8201:Sel1l2 UTSW 2 140,108,312 (GRCm39) missense probably damaging 1.00
R8343:Sel1l2 UTSW 2 140,072,753 (GRCm39) missense probably benign 0.03
R8968:Sel1l2 UTSW 2 140,127,209 (GRCm39) missense probably benign 0.14
R9038:Sel1l2 UTSW 2 140,117,384 (GRCm39) missense probably damaging 1.00
R9226:Sel1l2 UTSW 2 140,097,222 (GRCm39) missense probably damaging 1.00
X0019:Sel1l2 UTSW 2 140,090,535 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTATGTGTGAACTCAAGGGAGAG -3'
(R):5'- GAGTACATGTAATCGTGATATCGAG -3'

Sequencing Primer
(F):5'- CTTCTCACACAGCTGTCA -3'
(R):5'- TGAATACTTCATGTGCATTCATGC -3'
Posted On 2017-07-14