Incidental Mutation 'IGL02430:Lmntd1'
ID293099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmntd1
Ensembl Gene ENSMUSG00000054966
Gene Namelamin tail domain containing 1
SynonymsIfltd1, 4933403M22Rik, Lmna-rs1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02430
Quality Score
Status
Chromosome6
Chromosomal Location145365134-145614319 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 145413414 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 191 (T191S)
Ref Sequence ENSEMBL: ENSMUSP00000120740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111706] [ENSMUST00000111708] [ENSMUST00000148739]
Predicted Effect probably benign
Transcript: ENSMUST00000111706
AA Change: T287S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107335
Gene: ENSMUSG00000054966
AA Change: T287S

DomainStartEndE-ValueType
Pfam:LTD 121 240 1.1e-18 PFAM
low complexity region 324 340 N/A INTRINSIC
low complexity region 344 362 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111708
AA Change: T337S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107337
Gene: ENSMUSG00000054966
AA Change: T337S

DomainStartEndE-ValueType
Pfam:LTD 174 287 1.6e-12 PFAM
low complexity region 374 390 N/A INTRINSIC
low complexity region 394 412 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148739
AA Change: T191S

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120740
Gene: ENSMUSG00000054966
AA Change: T191S

DomainStartEndE-ValueType
Pfam:LTD 24 144 1.2e-18 PFAM
low complexity region 228 244 N/A INTRINSIC
low complexity region 248 266 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,522,760 E1249G probably benign Het
C8a G A 4: 104,817,522 T540I probably damaging Het
Clcnkb C A 4: 141,409,390 W388L possibly damaging Het
Cnbp A T 6: 87,845,178 Y114* probably null Het
Col13a1 A G 10: 61,874,751 V337A probably benign Het
Cyp2e1 A G 7: 140,770,226 K275E probably damaging Het
Dchs1 A G 7: 105,771,971 V414A probably benign Het
Ebf1 G A 11: 44,924,576 probably null Het
Gabbr1 C T 17: 37,056,308 R198* probably null Het
Gm12800 A G 4: 101,910,280 Y242C probably benign Het
Gpaa1 T C 15: 76,332,188 S36P possibly damaging Het
Hipk1 A G 3: 103,760,655 V532A probably damaging Het
Klhl18 A T 9: 110,437,401 C217S probably benign Het
Ltbp2 T A 12: 84,799,401 Y925F probably damaging Het
Lvrn A G 18: 46,894,730 I871V probably benign Het
Mrgprb1 A G 7: 48,447,661 S168P possibly damaging Het
Olfr495 A T 7: 108,395,722 I201F probably benign Het
Olfr739 A G 14: 50,425,151 I211V probably benign Het
Pcnx T A 12: 81,919,322 N754K possibly damaging Het
Plaa A T 4: 94,582,573 M442K probably benign Het
Pole3 T C 4: 62,524,819 N28S possibly damaging Het
Prlr A G 15: 10,325,391 K4E probably damaging Het
Rp1l1 A T 14: 64,029,286 T774S probably benign Het
Selp C A 1: 164,126,383 P84Q probably damaging Het
Sh3bp4 T A 1: 89,153,163 W901R probably null Het
Slc6a20b A G 9: 123,597,240 Y527H probably damaging Het
Slit3 T A 11: 35,177,774 probably null Het
Spidr C T 16: 16,114,910 D169N probably damaging Het
Sstr2 T C 11: 113,624,804 L183P probably damaging Het
Tmem62 C T 2: 120,986,662 T233I probably damaging Het
Uba7 A G 9: 107,979,468 probably benign Het
Ubc A T 5: 125,387,570 I231N probably damaging Het
Ubl3 A T 5: 148,551,956 D8E probably benign Het
Unc5a A G 13: 55,002,482 I465M probably damaging Het
Vmn2r106 A G 17: 20,278,896 I251T probably benign Het
Vwa8 T C 14: 78,934,645 probably null Het
Washc5 A G 15: 59,366,291 Y195H probably damaging Het
Wdr27 A C 17: 14,901,800 S615A probably damaging Het
Zfp160 T A 17: 21,025,530 L114H possibly damaging Het
Zfp523 T C 17: 28,195,139 probably benign Het
Other mutations in Lmntd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Lmntd1 APN 6 145433722 missense possibly damaging 0.92
IGL01986:Lmntd1 APN 6 145419807 missense probably damaging 1.00
IGL02064:Lmntd1 APN 6 145427276 splice site probably null
IGL03296:Lmntd1 APN 6 145413477 missense probably benign 0.23
PIT4514001:Lmntd1 UTSW 6 145427253 frame shift probably null
R0022:Lmntd1 UTSW 6 145429990 missense probably benign 0.06
R0050:Lmntd1 UTSW 6 145417476 missense probably damaging 1.00
R0084:Lmntd1 UTSW 6 145404528 missense unknown
R0631:Lmntd1 UTSW 6 145430000 missense probably benign 0.00
R1716:Lmntd1 UTSW 6 145419874 missense probably damaging 1.00
R1850:Lmntd1 UTSW 6 145413480 missense probably benign 0.06
R3898:Lmntd1 UTSW 6 145413426 missense probably benign 0.16
R4411:Lmntd1 UTSW 6 145427277 critical splice donor site probably null
R5596:Lmntd1 UTSW 6 145413414 missense probably benign 0.34
R5944:Lmntd1 UTSW 6 145427316 missense probably damaging 0.99
R6711:Lmntd1 UTSW 6 145543502 missense probably benign 0.04
R7369:Lmntd1 UTSW 6 145413575 missense probably damaging 1.00
R7445:Lmntd1 UTSW 6 145429967 missense probably damaging 0.96
R7725:Lmntd1 UTSW 6 145543470 missense probably benign 0.10
Posted On2015-04-16