Incidental Mutation 'R7083:Lnx1'
ID 549666
Institutional Source Beutler Lab
Gene Symbol Lnx1
Ensembl Gene ENSMUSG00000029228
Gene Name ligand of numb-protein X 1
Synonyms
MMRRC Submission 045177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R7083 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 74753108-74863573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74788846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 31 (S31F)
Ref Sequence ENSEMBL: ENSMUSP00000109159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039744] [ENSMUST00000087161] [ENSMUST00000113531] [ENSMUST00000117388] [ENSMUST00000117525] [ENSMUST00000121690] [ENSMUST00000127396] [ENSMUST00000153543]
AlphaFold O70263
Predicted Effect probably damaging
Transcript: ENSMUST00000039744
AA Change: S90F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228
AA Change: S90F

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
Blast:PDZ 57 164 1e-33 BLAST
PDZ 188 263 5.33e-19 SMART
PDZ 295 368 2.27e-13 SMART
PDZ 417 494 8.27e-16 SMART
PDZ 547 624 5.71e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000087161
AA Change: S190F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228
AA Change: S190F

DomainStartEndE-ValueType
RING 45 82 5.82e-6 SMART
low complexity region 97 107 N/A INTRINSIC
Blast:PDZ 157 264 3e-33 BLAST
PDZ 288 363 5.33e-19 SMART
PDZ 395 468 2.27e-13 SMART
PDZ 517 594 8.27e-16 SMART
PDZ 647 724 5.71e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113531
AA Change: S31F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228
AA Change: S31F

DomainStartEndE-ValueType
Blast:PDZ 2 105 2e-32 BLAST
PDZ 129 204 5.33e-19 SMART
PDZ 236 309 2.27e-13 SMART
PDZ 358 435 8.27e-16 SMART
PDZ 488 565 5.71e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117388
AA Change: S190F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113035
Gene: ENSMUSG00000029228
AA Change: S190F

DomainStartEndE-ValueType
RING 45 82 5.82e-6 SMART
low complexity region 97 107 N/A INTRINSIC
Blast:PDZ 157 264 3e-33 BLAST
PDZ 288 363 5.33e-19 SMART
PDZ 395 468 2.27e-13 SMART
PDZ 517 594 8.27e-16 SMART
PDZ 647 724 5.71e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117525
AA Change: S90F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113837
Gene: ENSMUSG00000029228
AA Change: S90F

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
Blast:PDZ 57 164 1e-33 BLAST
PDZ 188 263 5.33e-19 SMART
PDZ 295 368 2.27e-13 SMART
PDZ 417 494 8.27e-16 SMART
PDZ 547 624 5.71e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121690
AA Change: S90F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113565
Gene: ENSMUSG00000029228
AA Change: S90F

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
PDZ 178 253 5.33e-19 SMART
PDZ 285 358 2.27e-13 SMART
PDZ 407 484 8.27e-16 SMART
PDZ 537 614 5.71e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127396
SMART Domains Protein: ENSMUSP00000120886
Gene: ENSMUSG00000029228

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140084
SMART Domains Protein: ENSMUSP00000117935
Gene: ENSMUSG00000029228

DomainStartEndE-ValueType
PDZ 1 47 2.73e-1 SMART
PDZ 79 154 1.51e-9 SMART
PDZ 156 233 8.27e-16 SMART
SCOP:d1qaua_ 274 322 3e-7 SMART
Blast:PDZ 286 322 4e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000153543
AA Change: S31F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121094
Gene: ENSMUSG00000029228
AA Change: S31F

DomainStartEndE-ValueType
Blast:PDZ 2 105 9e-37 BLAST
Blast:PDZ 129 159 1e-12 BLAST
Meta Mutation Damage Score 0.1559 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit an increased percentage of B1-like B cells in peritoneal lavage when compared with that of controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A T 12: 81,607,015 (GRCm39) M249K possibly damaging Het
Arhgef38 T A 3: 132,838,197 (GRCm39) Q613L unknown Het
Arpp21 A G 9: 112,012,612 (GRCm39) V70A probably benign Het
AW551984 T C 9: 39,508,943 (GRCm39) N327S probably damaging Het
Bnc1 T C 7: 81,623,058 (GRCm39) K723R probably damaging Het
Btbd7 A G 12: 102,754,594 (GRCm39) L724P probably damaging Het
Btnl10 G T 11: 58,809,963 (GRCm39) V35F probably damaging Het
Cd22 T A 7: 30,567,473 (GRCm39) T704S probably damaging Het
Cd4 T G 6: 124,847,535 (GRCm39) S210R probably benign Het
Cped1 A G 6: 22,123,579 (GRCm39) Q444R probably benign Het
Dusp26 A G 8: 31,581,747 (GRCm39) probably benign Het
Dync1i1 C T 6: 5,969,429 (GRCm39) A418V probably damaging Het
Fibp A G 19: 5,513,659 (GRCm39) D232G probably damaging Het
Frem2 T A 3: 53,444,914 (GRCm39) T2406S probably damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr39 T A 1: 125,605,155 (GRCm39) W28R probably damaging Het
Greb1 A G 12: 16,773,315 (GRCm39) V253A probably benign Het
Hexim1 T G 11: 103,007,992 (GRCm39) L82W possibly damaging Het
Hmga1 G T 17: 27,779,945 (GRCm39) R49L possibly damaging Het
Irag2 A T 6: 145,115,509 (GRCm39) N349I probably damaging Het
Itch A T 2: 155,052,364 (GRCm39) N655Y probably damaging Het
Izumo2 A G 7: 44,359,757 (GRCm39) E129G probably damaging Het
Klk1b24 G A 7: 43,841,225 (GRCm39) C186Y probably damaging Het
Lrrc37a T C 11: 103,394,166 (GRCm39) I420V probably benign Het
Ltk A C 2: 119,582,555 (GRCm39) C776G probably damaging Het
Mast4 A C 13: 102,874,223 (GRCm39) L1715R probably damaging Het
Med28 T C 5: 45,680,878 (GRCm39) probably null Het
Naf1 GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA 8: 67,313,138 (GRCm39) probably benign Het
Nckap1l C A 15: 103,390,551 (GRCm39) T774K probably damaging Het
Nfkbiz T C 16: 55,638,663 (GRCm39) K266E possibly damaging Het
Ntrk3 T A 7: 77,900,587 (GRCm39) D584V probably damaging Het
Or1o1 T C 17: 37,717,063 (GRCm39) V208A probably benign Het
Or2h15 T A 17: 38,441,601 (GRCm39) T161S probably benign Het
Or4c126 A G 2: 89,824,201 (GRCm39) I155V probably benign Het
Or4n4b G A 14: 50,536,736 (GRCm39) T10I possibly damaging Het
Or5h25 T C 16: 58,930,400 (GRCm39) D191G probably damaging Het
Picalm T A 7: 89,825,976 (GRCm39) I376K probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prps1l3 A T 12: 57,286,034 (GRCm39) I275L probably benign Het
Psg26 G A 7: 18,213,934 (GRCm39) R243* probably null Het
Ranbp2 A G 10: 58,315,052 (GRCm39) H1924R probably damaging Het
Rasef T C 4: 73,709,221 (GRCm39) D4G probably benign Het
Rttn T C 18: 89,108,722 (GRCm39) L1642P probably damaging Het
Shroom3 T C 5: 93,112,384 (GRCm39) L1915P probably damaging Het
Slc26a10 A G 10: 127,013,037 (GRCm39) V319A probably damaging Het
Slc4a10 A G 2: 62,064,839 (GRCm39) N231S probably benign Het
Sox18 T C 2: 181,312,165 (GRCm39) Q322R possibly damaging Het
Sting1 T C 18: 35,867,703 (GRCm39) H331R probably damaging Het
Syde1 G T 10: 78,422,903 (GRCm39) P490T probably benign Het
Syne2 A G 12: 75,990,662 (GRCm39) I1881M probably damaging Het
Taf1c T C 8: 120,327,407 (GRCm39) D387G probably damaging Het
Tenm4 T A 7: 96,544,556 (GRCm39) Y2228N probably damaging Het
Tubgcp5 C T 7: 55,450,443 (GRCm39) Q185* probably null Het
Vmn2r44 T A 7: 8,381,369 (GRCm39) I175F probably benign Het
Zdhhc7 C A 8: 120,812,166 (GRCm39) C152F probably damaging Het
Zfp52 T A 17: 21,780,392 (GRCm39) M80K possibly damaging Het
Zfp612 T C 8: 110,815,768 (GRCm39) I325T probably damaging Het
Zmiz1 T G 14: 25,652,372 (GRCm39) F597V probably damaging Het
Other mutations in Lnx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Lnx1 APN 5 74,846,378 (GRCm39) missense probably benign 0.00
IGL01538:Lnx1 APN 5 74,780,816 (GRCm39) missense possibly damaging 0.50
IGL02351:Lnx1 APN 5 74,788,027 (GRCm39) missense probably damaging 0.97
IGL02358:Lnx1 APN 5 74,788,027 (GRCm39) missense probably damaging 0.97
IGL03011:Lnx1 APN 5 74,846,420 (GRCm39) missense probably benign 0.02
IGL03188:Lnx1 APN 5 74,780,924 (GRCm39) missense probably damaging 1.00
bobcat UTSW 5 74,846,351 (GRCm39) missense probably damaging 1.00
Caracal UTSW 5 74,766,710 (GRCm39) missense probably damaging 1.00
R0490:Lnx1 UTSW 5 74,781,008 (GRCm39) critical splice acceptor site probably null
R0714:Lnx1 UTSW 5 74,768,570 (GRCm39) splice site probably benign
R1343:Lnx1 UTSW 5 74,758,040 (GRCm39) missense probably damaging 0.98
R1533:Lnx1 UTSW 5 74,780,678 (GRCm39) missense probably damaging 1.00
R1681:Lnx1 UTSW 5 74,846,071 (GRCm39) missense probably benign
R1714:Lnx1 UTSW 5 74,768,398 (GRCm39) missense probably null 1.00
R1727:Lnx1 UTSW 5 74,768,577 (GRCm39) splice site probably null
R1806:Lnx1 UTSW 5 74,766,710 (GRCm39) missense probably damaging 1.00
R2091:Lnx1 UTSW 5 74,780,727 (GRCm39) missense probably benign 0.25
R2879:Lnx1 UTSW 5 74,780,784 (GRCm39) missense probably benign 0.03
R2984:Lnx1 UTSW 5 74,846,083 (GRCm39) nonsense probably null
R3790:Lnx1 UTSW 5 74,789,027 (GRCm39) splice site probably benign
R3953:Lnx1 UTSW 5 74,766,750 (GRCm39) missense probably benign
R4509:Lnx1 UTSW 5 74,780,853 (GRCm39) missense probably damaging 1.00
R4510:Lnx1 UTSW 5 74,780,853 (GRCm39) missense probably damaging 1.00
R4511:Lnx1 UTSW 5 74,780,853 (GRCm39) missense probably damaging 1.00
R4575:Lnx1 UTSW 5 74,846,204 (GRCm39) missense probably damaging 1.00
R4583:Lnx1 UTSW 5 74,771,457 (GRCm39) missense probably benign 0.16
R4624:Lnx1 UTSW 5 74,821,121 (GRCm39) intron probably benign
R4647:Lnx1 UTSW 5 74,771,457 (GRCm39) missense probably benign 0.16
R4648:Lnx1 UTSW 5 74,771,457 (GRCm39) missense probably benign 0.16
R4877:Lnx1 UTSW 5 74,788,784 (GRCm39) missense probably benign 0.01
R4883:Lnx1 UTSW 5 74,768,530 (GRCm39) missense probably benign
R5256:Lnx1 UTSW 5 74,846,315 (GRCm39) missense probably damaging 1.00
R6169:Lnx1 UTSW 5 74,838,230 (GRCm39) missense probably damaging 1.00
R6185:Lnx1 UTSW 5 74,846,269 (GRCm39) nonsense probably null
R6408:Lnx1 UTSW 5 74,846,307 (GRCm39) missense probably damaging 1.00
R6476:Lnx1 UTSW 5 74,768,541 (GRCm39) missense possibly damaging 0.52
R7085:Lnx1 UTSW 5 74,788,846 (GRCm39) missense possibly damaging 0.94
R7261:Lnx1 UTSW 5 74,838,175 (GRCm39) nonsense probably null
R7511:Lnx1 UTSW 5 74,780,972 (GRCm39) missense probably benign 0.01
R7574:Lnx1 UTSW 5 74,846,099 (GRCm39) missense probably benign 0.33
R7670:Lnx1 UTSW 5 74,846,351 (GRCm39) missense probably damaging 1.00
R8145:Lnx1 UTSW 5 74,846,060 (GRCm39) missense probably benign 0.22
R9015:Lnx1 UTSW 5 74,780,783 (GRCm39) missense probably benign 0.00
R9224:Lnx1 UTSW 5 74,766,810 (GRCm39) missense probably benign 0.37
R9321:Lnx1 UTSW 5 74,780,991 (GRCm39) missense probably damaging 1.00
R9340:Lnx1 UTSW 5 74,758,584 (GRCm39) missense probably benign 0.01
R9704:Lnx1 UTSW 5 74,780,879 (GRCm39) missense probably benign 0.02
Z1177:Lnx1 UTSW 5 74,788,102 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- ACATTGAGTGTCGGCCAAAAC -3'
(R):5'- TGGTTTTATTCCAGCTGCAAAGG -3'

Sequencing Primer
(F):5'- TGAGTGTCGGCCAAAACTACCAG -3'
(R):5'- AGCTGCAAAGGGGCCTC -3'
Posted On 2019-05-15