Incidental Mutation 'IGL03296:Lmntd1'
ID 416073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmntd1
Ensembl Gene ENSMUSG00000054966
Gene Name lamin tail domain containing 1
Synonyms 4933403M22Rik, Ifltd1, Lmna-rs1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03296
Quality Score
Status
Chromosome 6
Chromosomal Location 145311619-145560045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145359203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 316 (F316L)
Ref Sequence ENSEMBL: ENSMUSP00000107337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111706] [ENSMUST00000111708] [ENSMUST00000148739]
AlphaFold Q9D4C1
Predicted Effect probably benign
Transcript: ENSMUST00000111706
AA Change: F266L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107335
Gene: ENSMUSG00000054966
AA Change: F266L

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: F316L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107337
Gene: ENSMUSG00000054966
AA Change: F316L

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: F170L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120740
Gene: ENSMUSG00000054966
AA Change: F170L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,632,044 (GRCm39) probably benign Het
Arhgef26 A G 3: 62,330,926 (GRCm39) T547A probably damaging Het
Cdc14a T A 3: 116,090,807 (GRCm39) H375L probably benign Het
Ddx43 T C 9: 78,306,380 (GRCm39) probably null Het
Dennd6a T C 14: 26,338,115 (GRCm39) probably null Het
Dock4 A T 12: 40,783,256 (GRCm39) E730V possibly damaging Het
Gpr55 A G 1: 85,868,753 (GRCm39) L276S probably damaging Het
Grid1 T C 14: 35,302,524 (GRCm39) F930L possibly damaging Het
Inf2 C T 12: 112,570,642 (GRCm39) Q394* probably null Het
Ints11 T C 4: 155,969,780 (GRCm39) probably null Het
Kcnd2 T C 6: 21,714,208 (GRCm39) V397A probably damaging Het
Loxl4 A T 19: 42,587,262 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mindy4 T C 6: 55,274,738 (GRCm39) probably null Het
Mybpc2 A T 7: 44,156,308 (GRCm39) I835N probably damaging Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Nfkb2 A T 19: 46,298,367 (GRCm39) D557V probably damaging Het
Or11g27 A T 14: 50,771,402 (GRCm39) I178L possibly damaging Het
Pdk3 T C X: 92,875,503 (GRCm39) Y19C probably damaging Het
Pdpr G T 8: 111,841,430 (GRCm39) V221F probably damaging Het
Rab6a T C 7: 100,283,931 (GRCm39) Y128H probably benign Het
Rars1 A T 11: 35,707,523 (GRCm39) Y429* probably null Het
Rsl24d1 T C 9: 73,025,229 (GRCm39) probably null Het
Slc7a9 T C 7: 35,151,852 (GRCm39) F49S probably damaging Het
St14 C T 9: 31,020,008 (GRCm39) E34K probably damaging Het
Tcp10b A G 17: 13,292,443 (GRCm39) T289A probably damaging Het
Tenm2 T C 11: 35,942,852 (GRCm39) probably null Het
Tshz3 A T 7: 36,470,761 (GRCm39) T917S probably damaging Het
Vrtn T A 12: 84,695,622 (GRCm39) I124N probably damaging Het
Vwa8 A G 14: 79,420,540 (GRCm39) E1747G probably damaging Het
Wdr33 A T 18: 31,960,444 (GRCm39) Q36L probably benign Het
Xpo5 C T 17: 46,532,320 (GRCm39) R452* probably null Het
Zdhhc8 A T 16: 18,044,587 (GRCm39) L311Q possibly damaging Het
Other mutations in Lmntd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Lmntd1 APN 6 145,379,448 (GRCm39) missense possibly damaging 0.92
IGL01986:Lmntd1 APN 6 145,365,533 (GRCm39) missense probably damaging 1.00
IGL02064:Lmntd1 APN 6 145,373,002 (GRCm39) splice site probably null
IGL02430:Lmntd1 APN 6 145,359,140 (GRCm39) missense probably benign 0.34
PIT4514001:Lmntd1 UTSW 6 145,372,979 (GRCm39) frame shift probably null
R0022:Lmntd1 UTSW 6 145,375,716 (GRCm39) missense probably benign 0.06
R0050:Lmntd1 UTSW 6 145,363,202 (GRCm39) missense probably damaging 1.00
R0084:Lmntd1 UTSW 6 145,350,254 (GRCm39) missense unknown
R0631:Lmntd1 UTSW 6 145,375,726 (GRCm39) missense probably benign 0.00
R1716:Lmntd1 UTSW 6 145,365,600 (GRCm39) missense probably damaging 1.00
R1850:Lmntd1 UTSW 6 145,359,206 (GRCm39) missense probably benign 0.06
R3898:Lmntd1 UTSW 6 145,359,152 (GRCm39) missense probably benign 0.16
R4411:Lmntd1 UTSW 6 145,373,003 (GRCm39) critical splice donor site probably null
R5596:Lmntd1 UTSW 6 145,359,140 (GRCm39) missense probably benign 0.34
R5944:Lmntd1 UTSW 6 145,373,042 (GRCm39) missense probably damaging 0.99
R6711:Lmntd1 UTSW 6 145,489,228 (GRCm39) missense probably benign 0.04
R7369:Lmntd1 UTSW 6 145,359,301 (GRCm39) missense probably damaging 1.00
R7445:Lmntd1 UTSW 6 145,375,693 (GRCm39) missense probably damaging 0.96
R7725:Lmntd1 UTSW 6 145,489,196 (GRCm39) missense probably benign 0.10
R8237:Lmntd1 UTSW 6 145,373,146 (GRCm39) missense probably damaging 0.99
R8886:Lmntd1 UTSW 6 145,363,152 (GRCm39) missense probably damaging 1.00
R8935:Lmntd1 UTSW 6 145,489,229 (GRCm39) missense probably benign 0.10
R9046:Lmntd1 UTSW 6 145,365,565 (GRCm39) missense probably damaging 0.98
R9258:Lmntd1 UTSW 6 145,359,256 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02