Incidental Mutation 'R4948:Sel1l2'
ID 383556
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 042545-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R4948 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 140071775-140231626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140086086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 502 (Y502H)
Ref Sequence ENSEMBL: ENSMUSP00000113800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122367]
AlphaFold Q3V172
Predicted Effect probably damaging
Transcript: ENSMUST00000122367
AA Change: Y502H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: Y502H

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
Meta Mutation Damage Score 0.6905 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 94% (103/109)
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,154 (GRCm39) probably null Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Alas1 A T 9: 106,124,077 (GRCm39) L27* probably null Het
Aldh1a7 A G 19: 20,704,374 (GRCm39) V40A possibly damaging Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
B3gnt5 A C 16: 19,587,894 (GRCm39) M38L probably benign Het
Brd8 A G 18: 34,747,585 (GRCm39) V92A probably damaging Het
Btla A T 16: 45,063,091 (GRCm39) E151D probably benign Het
Cd79b T A 11: 106,203,687 (GRCm39) T67S probably benign Het
Cep192 A G 18: 67,949,875 (GRCm39) R320G probably benign Het
Chad A C 11: 94,456,528 (GRCm39) D202A probably damaging Het
Chil6 A G 3: 106,295,988 (GRCm39) probably benign Het
Cpz T C 5: 35,674,748 (GRCm39) E167G possibly damaging Het
Crisp2 T G 17: 41,076,159 (GRCm39) H225P probably damaging Het
Cyp2c23 T C 19: 44,010,138 (GRCm39) Y69C possibly damaging Het
Dcp1a T A 14: 30,201,724 (GRCm39) L49H probably damaging Het
Dnah6 T A 6: 73,030,672 (GRCm39) H3380L probably benign Het
Dnai3 T A 3: 145,788,820 (GRCm39) K254* probably null Het
Dnm2 A G 9: 21,415,829 (GRCm39) D721G possibly damaging Het
Dnpep G T 1: 75,293,404 (GRCm39) T15K probably benign Het
Dock3 A T 9: 106,868,354 (GRCm39) D643E probably damaging Het
Ear6 C T 14: 52,091,573 (GRCm39) T40I possibly damaging Het
Fancm A G 12: 65,137,748 (GRCm39) D313G probably damaging Het
Fbxw16 T A 9: 109,267,415 (GRCm39) E272V probably damaging Het
Frmd4b T A 6: 97,283,691 (GRCm39) E393D probably benign Het
Fryl T A 5: 73,246,473 (GRCm39) M1100L probably benign Het
Gjd3 T C 11: 102,691,247 (GRCm39) H252R probably damaging Het
Gm10518 T C 1: 179,631,477 (GRCm39) probably benign Het
Gna14 A G 19: 16,580,656 (GRCm39) M165V probably benign Het
Hells C A 19: 38,923,966 (GRCm39) Q72K probably damaging Het
Herc1 A G 9: 66,392,184 (GRCm39) I4031V probably benign Het
Hspa2 C T 12: 76,452,761 (GRCm39) A485V probably damaging Het
Ighv1-54 T A 12: 115,157,438 (GRCm39) I70F probably benign Het
Il20rb A T 9: 100,343,592 (GRCm39) probably benign Het
Irag1 A G 7: 110,487,236 (GRCm39) V498A probably damaging Het
Krt1 C A 15: 101,754,376 (GRCm39) V625L unknown Het
Lamc3 T C 2: 31,830,748 (GRCm39) I1495T probably benign Het
Larp6 A G 9: 60,645,063 (GRCm39) E401G possibly damaging Het
Ldha A T 7: 46,496,805 (GRCm39) H19L probably benign Het
Lrba A G 3: 86,192,335 (GRCm39) N83S probably damaging Het
Lrp4 G T 2: 91,316,231 (GRCm39) R783L probably benign Het
Lrrk2 T G 15: 91,687,592 (GRCm39) I2227S probably benign Het
Lvrn T C 18: 47,013,803 (GRCm39) L495P probably damaging Het
Macf1 T C 4: 123,391,548 (GRCm39) N1077S probably damaging Het
Mboat1 A G 13: 30,425,213 (GRCm39) T425A probably damaging Het
Mcam A G 9: 44,047,863 (GRCm39) E36G probably damaging Het
Meis1 T A 11: 18,966,308 (GRCm39) T22S probably benign Het
Micu1 A G 10: 59,699,076 (GRCm39) K451R possibly damaging Het
Nat8 A T 6: 85,807,505 (GRCm39) D209E probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nmral1 G A 16: 4,534,274 (GRCm39) R56* probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or5b99 A T 19: 12,977,195 (GRCm39) T282S probably benign Het
Or5g25 T C 2: 85,477,916 (GRCm39) I250V probably benign Het
Or5h24 G A 16: 58,919,340 (GRCm39) T5I probably damaging Het
Palm3 A T 8: 84,753,708 (GRCm39) R132* probably null Het
Pax2 A G 19: 44,804,479 (GRCm39) Y272C probably damaging Het
Phc2 G A 4: 128,616,908 (GRCm39) A394T probably benign Het
Phf2 C A 13: 48,961,198 (GRCm39) G831C unknown Het
Pik3c2b G A 1: 133,027,453 (GRCm39) probably null Het
Plin2 T A 4: 86,580,228 (GRCm39) I178F probably benign Het
Pramel32 A T 4: 88,547,185 (GRCm39) L162H probably damaging Het
Prdm14 T A 1: 13,192,855 (GRCm39) I295F probably damaging Het
Psmd5 C T 2: 34,760,795 (GRCm39) R47H probably benign Het
Ptchd3 T A 11: 121,733,342 (GRCm39) I744K probably damaging Het
Ptrh1 T A 2: 32,666,557 (GRCm39) probably benign Het
Rab6a A G 7: 100,277,627 (GRCm39) D49G probably damaging Het
Radil A T 5: 142,470,994 (GRCm39) D1062E probably benign Het
Robo2 A G 16: 74,149,726 (GRCm39) V34A possibly damaging Het
Sall3 G A 18: 81,014,626 (GRCm39) P1029S probably benign Het
Sec14l3 A G 11: 4,018,101 (GRCm39) D127G possibly damaging Het
Serpina1f A G 12: 103,656,010 (GRCm39) V406A probably damaging Het
Sf3b3 T C 8: 111,540,301 (GRCm39) D1040G probably damaging Het
Sgcd A G 11: 46,870,262 (GRCm39) I233T possibly damaging Het
Slc15a3 A G 19: 10,820,410 (GRCm39) Q9R probably benign Het
Slc25a46 A G 18: 31,716,336 (GRCm39) F389L probably damaging Het
Slc26a2 G T 18: 61,331,330 (GRCm39) C700* probably null Het
Slc4a7 A G 14: 14,771,283 (GRCm38) Y671C possibly damaging Het
Slc5a10 A T 11: 61,610,708 (GRCm39) I22N probably damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slc6a12 A G 6: 121,332,281 (GRCm39) D205G probably benign Het
Tas2r115 G A 6: 132,714,124 (GRCm39) H276Y probably damaging Het
Tdpoz4 T A 3: 93,704,318 (GRCm39) I205N probably damaging Het
Tfeb C T 17: 48,096,904 (GRCm39) T33I probably benign Het
Tgm3 A G 2: 129,890,240 (GRCm39) T668A probably benign Het
Tnpo3 A G 6: 29,582,259 (GRCm39) V201A probably benign Het
Tpcn1 T A 5: 120,694,596 (GRCm39) M158L probably benign Het
Trim47 A C 11: 115,996,918 (GRCm39) L612R probably damaging Het
Trmt10c A T 16: 55,854,438 (GRCm39) L399* probably null Het
Trpm2 A T 10: 77,753,626 (GRCm39) S1293T probably benign Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Tubgcp5 A G 7: 55,455,871 (GRCm39) I300V probably benign Het
Uty T A Y: 1,136,883 (GRCm39) Q844L probably damaging Het
Vmn2r85 C T 10: 130,254,990 (GRCm39) E565K probably damaging Het
Vmn2r97 T C 17: 19,167,561 (GRCm39) V605A possibly damaging Het
Vwa3a T C 7: 120,375,487 (GRCm39) V399A probably damaging Het
Wnk4 G A 11: 101,159,107 (GRCm39) R508Q probably damaging Het
Zfp217 A G 2: 169,961,130 (GRCm39) V399A probably damaging Het
Zfp616 T A 11: 73,974,830 (GRCm39) N457K possibly 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
R6008:Sel1l2 UTSW 2 140,086,025 (GRCm39) missense probably damaging 1.00
R6058:Sel1l2 UTSW 2 140,082,889 (GRCm39) missense possibly damaging 0.94
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'- TCGGTTCCATAGCAGAAGTG -3'
(R):5'- CAGAAGCTGAAGTCCACAGG -3'

Sequencing Primer
(F):5'- GGATACAACTTCTCTTTCCCCAG -3'
(R):5'- GTCCACAGGGCAGTATGTG -3'
Posted On 2016-04-27