Incidental Mutation 'R5596:Lmntd1'
ID 437830
Institutional Source Beutler Lab
Gene Symbol Lmntd1
Ensembl Gene ENSMUSG00000054966
Gene Name lamin tail domain containing 1
Synonyms 4933403M22Rik, Ifltd1, Lmna-rs1
MMRRC Submission 043148-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5596 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 145311619-145560045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145359140 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D4C1
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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,000,972 (GRCm39) M1503V possibly damaging Het
Abraxas1 A T 5: 100,966,403 (GRCm39) V53D probably damaging Het
Bub1b T C 2: 118,461,463 (GRCm39) S672P probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Cacng7 A T 7: 3,415,420 (GRCm39) I262F probably benign Het
Capzb T G 4: 139,006,738 (GRCm39) probably benign Het
Ccdc149 A G 5: 52,561,493 (GRCm39) V229A probably damaging Het
Cfap69 A G 5: 5,676,020 (GRCm39) L225P probably damaging Het
Cftr A G 6: 18,268,095 (GRCm39) T685A probably benign Het
Col12a1 G A 9: 79,611,041 (GRCm39) T177M probably damaging Het
Creb3l3 T G 10: 80,920,881 (GRCm39) D383A probably benign Het
Cyp2j8 T A 4: 96,395,578 (GRCm39) I16F probably benign Het
Dnah5 G T 15: 28,343,754 (GRCm39) A2385S probably damaging Het
Enox1 A G 14: 77,816,493 (GRCm39) I158V probably benign Het
Erich3 A T 3: 154,433,033 (GRCm39) T139S probably damaging Het
Fam186b A T 15: 99,169,170 (GRCm39) S926T possibly damaging Het
Gjd2 C A 2: 113,841,965 (GRCm39) V171F possibly damaging Het
Helz2 A T 2: 180,879,082 (GRCm39) probably benign Het
Herc1 T TTN 9: 66,341,345 (GRCm39) probably benign Het
Impg1 A T 9: 80,252,500 (GRCm39) V483E probably benign Het
Irx4 A G 13: 73,415,799 (GRCm39) N196S probably damaging Het
Kcnip1 T C 11: 33,580,597 (GRCm39) D213G probably damaging Het
Med12l T A 3: 59,159,771 (GRCm39) N1273K probably benign Het
Musk T C 4: 58,373,036 (GRCm39) C654R probably damaging Het
Nlrp4d A T 7: 10,115,951 (GRCm39) S274T noncoding transcript Het
Omd A G 13: 49,745,814 (GRCm39) H408R probably benign Het
Pbld2 C T 10: 62,907,791 (GRCm39) A219V probably damaging Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Pramel32 C T 4: 88,548,292 (GRCm39) E38K probably damaging Het
Ptpn1 T C 2: 167,816,683 (GRCm39) I246T probably damaging Het
Sap18b G T 8: 96,551,998 (GRCm39) A3S unknown Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Sstr4 G T 2: 148,237,652 (GRCm39) V88F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tmcc2 T C 1: 132,288,221 (GRCm39) N489D probably damaging Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Tnxb T A 17: 34,907,778 (GRCm39) V1274E probably damaging Het
Ube3b T A 5: 114,544,221 (GRCm39) probably null Het
Vwa5a A T 9: 38,633,874 (GRCm39) I26F probably 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
IGL03296:Lmntd1 APN 6 145,359,203 (GRCm39) missense probably benign 0.23
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
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
Predicted Primers PCR Primer
(F):5'- TTGGAGGCAGAGCATTCATTG -3'
(R):5'- TGAGAACTCTCTCCATTCCTATTAGG -3'

Sequencing Primer
(F):5'- GCGTCCCAAGCATTTACTTAAAGAG -3'
(R):5'- TCCATTCCTATTAGGCCATTGC -3'
Posted On 2016-10-26