Incidental Mutation 'R1727:Lnx1'
ID 198218
Institutional Source Beutler Lab
Gene Symbol Lnx1
Ensembl Gene ENSMUSG00000029228
Gene Name ligand of numb-protein X 1
Synonyms
MMRRC Submission 039759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1727 (G1)
Quality Score 213
Status Validated
Chromosome 5
Chromosomal Location 74753108-74863573 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 74768577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000039744] [ENSMUST00000087161] [ENSMUST00000087161] [ENSMUST00000113531] [ENSMUST00000117388] [ENSMUST00000117388] [ENSMUST00000117525] [ENSMUST00000117525] [ENSMUST00000121690] [ENSMUST00000121690] [ENSMUST00000127396] [ENSMUST00000153543] [ENSMUST00000153543]
AlphaFold O70263
Predicted Effect probably null
Transcript: ENSMUST00000039744
SMART Domains Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228

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 probably null
Transcript: ENSMUST00000087161
SMART Domains Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228

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 null
Transcript: ENSMUST00000087161
SMART Domains Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228

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 null
Transcript: ENSMUST00000113531
SMART Domains Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228

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 probably null
Transcript: ENSMUST00000117388
SMART Domains Protein: ENSMUSP00000113035
Gene: ENSMUSG00000029228

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 null
Transcript: ENSMUST00000117388
SMART Domains Protein: ENSMUSP00000113035
Gene: ENSMUSG00000029228

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 null
Transcript: ENSMUST00000117525
SMART Domains Protein: ENSMUSP00000113837
Gene: ENSMUSG00000029228

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 probably null
Transcript: ENSMUST00000117525
SMART Domains Protein: ENSMUSP00000113837
Gene: ENSMUSG00000029228

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 probably null
Transcript: ENSMUST00000121690
SMART Domains Protein: ENSMUSP00000113565
Gene: ENSMUSG00000029228

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 null
Transcript: ENSMUST00000121690
SMART Domains Protein: ENSMUSP00000113565
Gene: ENSMUSG00000029228

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 null
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 probably null
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 probably null
Transcript: ENSMUST00000154928
SMART Domains Protein: ENSMUSP00000117021
Gene: ENSMUSG00000029228

DomainStartEndE-ValueType
RING 45 82 5.82e-6 SMART
low complexity region 97 107 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000153543
SMART Domains Protein: ENSMUSP00000121094
Gene: ENSMUSG00000029228

DomainStartEndE-ValueType
Blast:PDZ 2 105 9e-37 BLAST
Blast:PDZ 129 159 1e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000153543
SMART Domains Protein: ENSMUSP00000121094
Gene: ENSMUSG00000029228

DomainStartEndE-ValueType
Blast:PDZ 2 105 9e-37 BLAST
Blast:PDZ 129 159 1e-12 BLAST
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency 96% (98/102)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,565,472 (GRCm39) probably benign Het
Ak2 C T 4: 128,901,556 (GRCm39) P159L probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Akr1a1 A G 4: 116,498,248 (GRCm39) L99P probably damaging Het
Anxa8 T A 14: 33,811,547 (GRCm39) M34K probably damaging Het
Axl T G 7: 25,460,191 (GRCm39) D767A possibly damaging Het
B430305J03Rik A G 3: 61,271,299 (GRCm39) probably benign Het
Cdh24 A T 14: 54,876,095 (GRCm39) Y182* probably null Het
Cdk5rap2 T C 4: 70,190,916 (GRCm39) D1043G probably benign Het
Cdk5rap2 A T 4: 70,208,209 (GRCm39) S746T possibly damaging Het
Cep120 T C 18: 53,860,801 (GRCm39) M210V probably benign Het
Chga C T 12: 102,527,696 (GRCm39) H117Y possibly damaging Het
Cnga4 T C 7: 105,054,961 (GRCm39) W79R probably damaging Het
Cntnap5b C T 1: 100,141,469 (GRCm39) T575I possibly damaging Het
Col6a3 T A 1: 90,724,296 (GRCm39) probably null Het
Copz2 T C 11: 96,744,301 (GRCm39) V71A probably benign Het
Dennd3 G T 15: 73,436,977 (GRCm39) R1068L possibly damaging Het
Dhrs7 T C 12: 72,706,238 (GRCm39) T56A probably damaging Het
Dnah17 G A 11: 117,961,315 (GRCm39) T2557I probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dynlt2b T A 16: 32,241,751 (GRCm39) M78K probably benign Het
Eif3b T C 5: 140,411,077 (GRCm39) I176T probably damaging Het
Eif4b T A 15: 101,998,497 (GRCm39) D392E possibly damaging Het
Eif4h T C 5: 134,668,134 (GRCm39) Y7C probably damaging Het
Enam A T 5: 88,651,853 (GRCm39) S1046C probably damaging Het
Epg5 T A 18: 78,059,030 (GRCm39) V1928E possibly damaging Het
Erbin T A 13: 103,964,476 (GRCm39) E1222V probably benign Het
Fhdc1 T A 3: 84,353,483 (GRCm39) I581F possibly damaging Het
Fhip2b C A 14: 70,831,438 (GRCm39) G32V probably damaging Het
Fstl4 A C 11: 52,959,478 (GRCm39) Q173P probably damaging Het
Gm266 A G 12: 111,451,913 (GRCm39) F98L possibly damaging Het
Gsdmc2 T C 15: 63,721,628 (GRCm39) probably benign Het
Gtf2h3 A G 5: 124,728,419 (GRCm39) Q156R probably benign Het
H2-T23 T C 17: 36,342,545 (GRCm39) T198A possibly damaging Het
Il1r1 C A 1: 40,332,424 (GRCm39) A68E probably benign Het
Kcna7 A T 7: 45,058,930 (GRCm39) I406F possibly damaging Het
Lbr A G 1: 181,647,481 (GRCm39) I432T probably benign Het
Lrrcc1 T A 3: 14,602,423 (GRCm39) I50N probably damaging Het
Lss T C 10: 76,375,678 (GRCm39) V237A possibly damaging Het
Mcm10 A G 2: 5,011,336 (GRCm39) F212L probably benign Het
Methig1 A C 15: 100,251,130 (GRCm39) I14L probably benign Het
Mrpl41 A T 2: 24,864,636 (GRCm39) V55E probably damaging Het
Mtfp1 C A 11: 4,043,982 (GRCm39) D83Y probably damaging Het
Myh1 T A 11: 67,101,292 (GRCm39) probably benign Het
Myo1e T C 9: 70,283,806 (GRCm39) F834S possibly damaging Het
Ndufs7 A T 10: 80,091,853 (GRCm39) probably benign Het
Nlrp4e T A 7: 23,020,420 (GRCm39) N302K probably benign Het
Nt5e T A 9: 88,210,082 (GRCm39) M115K possibly damaging Het
Nup153 A T 13: 46,847,261 (GRCm39) C723S probably damaging Het
Obox6 G A 7: 15,568,502 (GRCm39) P125S probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2t48 A T 11: 58,420,342 (GRCm39) S157T possibly damaging Het
Or52n3 C T 7: 104,530,721 (GRCm39) T269I probably benign Het
Or5an11 T G 19: 12,246,365 (GRCm39) I257S possibly damaging Het
Or8i2 A G 2: 86,852,607 (GRCm39) F94L probably damaging Het
Pcdh1 A C 18: 38,336,085 (GRCm39) Y44* probably null Het
Pcdhb6 A T 18: 37,467,640 (GRCm39) D187V probably damaging Het
Pclo A G 5: 14,727,001 (GRCm39) probably benign Het
Pdcl3 T A 1: 39,034,836 (GRCm39) I80K possibly damaging Het
Pde12 A T 14: 26,390,022 (GRCm39) V229E probably benign Het
Plcg1 A G 2: 160,590,008 (GRCm39) E142G probably benign Het
Plxnb1 A G 9: 108,930,125 (GRCm39) probably null Het
Pnpla1 A G 17: 29,097,508 (GRCm39) I225V probably benign Het
Polr2f A G 15: 79,028,805 (GRCm39) probably benign Het
Prob1 A G 18: 35,787,364 (GRCm39) S297P possibly damaging Het
Qsox2 A C 2: 26,110,970 (GRCm39) S132A probably benign Het
Rab19 T A 6: 39,365,095 (GRCm39) Y118* probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptn T C 3: 93,304,445 (GRCm39) S593P possibly damaging Het
Septin11 T C 5: 93,304,783 (GRCm39) I200T probably damaging Het
Slc10a4 T A 5: 73,173,491 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,422,324 (GRCm39) I1130F probably benign Het
Slit3 C T 11: 35,520,659 (GRCm39) R599C probably damaging Het
Snx19 C T 9: 30,344,662 (GRCm39) P622L probably damaging Het
Sspo T C 6: 48,471,782 (GRCm39) L50P probably damaging Het
St8sia1 A T 6: 142,822,453 (GRCm39) C137S probably damaging Het
Syt11 G C 3: 88,669,259 (GRCm39) T211S possibly damaging Het
Tanc1 A C 2: 59,621,153 (GRCm39) Y324S probably damaging Het
Tas2r136 T C 6: 132,754,753 (GRCm39) I125V possibly damaging Het
Tbc1d15 A T 10: 115,046,130 (GRCm39) W458R probably damaging Het
Tecta G T 9: 42,270,597 (GRCm39) T1237N probably damaging Het
Tet2 T A 3: 133,193,051 (GRCm39) D461V probably damaging Het
Tmco3 G A 8: 13,368,866 (GRCm39) V573M possibly damaging Het
Tmem212 A T 3: 27,938,961 (GRCm39) M175K probably benign Het
Traf6 A G 2: 101,527,084 (GRCm39) H278R probably benign Het
Trerf1 T A 17: 47,652,092 (GRCm39) noncoding transcript Het
Ttn A C 2: 76,576,988 (GRCm39) V24635G probably damaging Het
Ush1c A T 7: 45,858,655 (GRCm39) D544E probably damaging Het
Usp47 C T 7: 111,685,307 (GRCm39) T586M probably damaging Het
Vmn2r1 T A 3: 63,989,163 (GRCm39) M34K probably benign Het
Vmn2r102 T A 17: 19,897,770 (GRCm39) W262R probably damaging Het
Wasf3 C T 5: 146,403,769 (GRCm39) A293V probably benign Het
Xrn2 A G 2: 146,903,436 (GRCm39) Q812R probably benign Het
Zc3h7b T C 15: 81,652,230 (GRCm39) I10T probably damaging Het
Zfp747 A T 7: 126,973,249 (GRCm39) L307Q probably damaging Het
Zfp777 A T 6: 48,020,824 (GRCm39) F266Y 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
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
R7083:Lnx1 UTSW 5 74,788,846 (GRCm39) missense possibly damaging 0.94
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'- TGCTCATCCTGCTCAAAGGGACAC -3'
(R):5'- GCAATGTAAACTTCTCGGAGTCAAGCC -3'

Sequencing Primer
(F):5'- TCTCCTTGACTCTGGGAGAGC -3'
(R):5'- AGTCAAGCCTTGGAATTTGC -3'
Posted On 2014-05-23