Incidental Mutation 'IGL01873:Lime1'
ID178788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lime1
Ensembl Gene ENSMUSG00000090077
Gene NameLck interacting transmembrane adaptor 1
SynonymsLIME, 2810038K19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01873
Quality Score
Status
Chromosome2
Chromosomal Location181380078-181383628 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 181382874 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 107 (V107A)
Ref Sequence ENSEMBL: ENSMUSP00000045010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029105] [ENSMUST00000029106] [ENSMUST00000048077] [ENSMUST00000108804] [ENSMUST00000108807] [ENSMUST00000116366]
Predicted Effect probably benign
Transcript: ENSMUST00000029105
SMART Domains Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582

DomainStartEndE-ValueType
low complexity region 53 64 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
ZnF_C3H1 174 199 5.99e-4 SMART
SCOP:d1g5va_ 218 268 2e-3 SMART
low complexity region 270 287 N/A INTRINSIC
G_patch 311 357 1.34e-9 SMART
low complexity region 379 392 N/A INTRINSIC
coiled coil region 431 505 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000029106
SMART Domains Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583

DomainStartEndE-ValueType
BTB 31 129 2.89e-21 SMART
ZnF_C2H2 418 440 4.72e-2 SMART
ZnF_C2H2 446 468 4.24e-4 SMART
ZnF_C2H2 474 498 1.31e2 SMART
low complexity region 543 557 N/A INTRINSIC
low complexity region 568 580 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048077
AA Change: V107A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000045010
Gene: ENSMUSG00000090077
AA Change: V107A

DomainStartEndE-ValueType
Pfam:LIME1 27 266 5.6e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108804
SMART Domains Protein: ENSMUSP00000104432
Gene: ENSMUSG00000090077

DomainStartEndE-ValueType
Pfam:LIME1 27 87 9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108807
SMART Domains Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582

DomainStartEndE-ValueType
low complexity region 53 64 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
ZnF_C3H1 174 199 5.99e-4 SMART
SCOP:d1g5va_ 218 268 2e-3 SMART
low complexity region 270 287 N/A INTRINSIC
G_patch 311 357 1.34e-9 SMART
low complexity region 379 392 N/A INTRINSIC
coiled coil region 431 505 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116366
SMART Domains Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582

DomainStartEndE-ValueType
low complexity region 53 64 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
ZnF_C3H1 174 199 5.99e-4 SMART
SCOP:d1g5va_ 218 268 2e-3 SMART
low complexity region 270 287 N/A INTRINSIC
G_patch 311 357 1.34e-9 SMART
low complexity region 379 392 N/A INTRINSIC
coiled coil region 431 505 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000126611
AA Change: V86A
SMART Domains Protein: ENSMUSP00000119181
Gene: ENSMUSG00000090077
AA Change: V86A

DomainStartEndE-ValueType
Pfam:LIME1 4 246 9.6e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131284
Predicted Effect unknown
Transcript: ENSMUST00000140943
AA Change: V108A
SMART Domains Protein: ENSMUSP00000117558
Gene: ENSMUSG00000090077
AA Change: V108A

DomainStartEndE-ValueType
Pfam:LIME1 24 189 5.4e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151457
Predicted Effect probably benign
Transcript: ENSMUST00000156258
SMART Domains Protein: ENSMUSP00000122714
Gene: ENSMUSG00000027582

DomainStartEndE-ValueType
G_patch 1 44 1.18e-5 SMART
low complexity region 66 79 N/A INTRINSIC
coiled coil region 117 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184328
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit no detectable abnormalities in the development and function of B and T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chd9 A G 8: 90,933,767 T452A probably benign Het
Coq8a T A 1: 180,178,977 Q115L probably damaging Het
Cul9 T C 17: 46,502,452 E2326G probably damaging Het
Cyp2c69 A G 19: 39,881,249 probably benign Het
Dennd5b A T 6: 149,044,529 M528K probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm6665 T C 18: 31,820,302 S38G probably damaging Het
Gsg1l A G 7: 125,958,443 V171A probably damaging Het
Ighv5-2 A T 12: 113,578,730 S42T probably benign Het
Itch C T 2: 155,168,750 T46I possibly damaging Het
Itsn2 T G 12: 4,632,366 probably benign Het
Mertk T C 2: 128,729,275 S50P possibly damaging Het
Myo5b T A 18: 74,580,396 V104E probably damaging Het
Nckap1 A T 2: 80,553,385 I145K possibly damaging Het
Ppp4r3a A T 12: 101,041,835 I794N possibly damaging Het
Psapl1 C A 5: 36,205,225 P387Q possibly damaging Het
Ripk1 T A 13: 34,009,724 L23Q probably damaging Het
Srrm4 G T 5: 116,591,468 probably benign Het
St6galnac1 T A 11: 116,766,611 T376S probably damaging Het
Tmem74 T C 15: 43,867,386 D87G probably benign Het
Trav19 A G 14: 53,845,716 R83G probably benign Het
Tubgcp4 T C 2: 121,188,184 probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfat T C 15: 68,224,895 N23S probably benign Het
Other mutations in Lime1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1549:Lime1 UTSW 2 181383376 missense probably benign 0.08
R1782:Lime1 UTSW 2 181383056 missense possibly damaging 0.95
R5225:Lime1 UTSW 2 181382847 missense probably benign
R7468:Lime1 UTSW 2 181383342 missense probably benign 0.00
Posted On2014-05-07