Incidental Mutation 'R4405:Ldaf1'
ID 327620
Institutional Source Beutler Lab
Gene Symbol Ldaf1
Ensembl Gene ENSMUSG00000030917
Gene Name lipid droplet assembly factor 1
Synonyms Tmem159, 8430420C20Rik
MMRRC Submission 041134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R4405 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 119701599-119720212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 119714714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 68 (F68V)
Ref Sequence ENSEMBL: ENSMUSP00000114085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033210] [ENSMUST00000118737]
AlphaFold Q922Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000033210
AA Change: F68V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033210
Gene: ENSMUSG00000030917
AA Change: F68V

DomainStartEndE-ValueType
Pfam:Promethin 20 128 2.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118737
AA Change: F68V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114085
Gene: ENSMUSG00000030917
AA Change: F68V

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 C T 8: 95,763,536 (GRCm39) A279V probably benign Het
Aggf1 G A 13: 95,508,102 (GRCm39) P88L probably benign Het
Asb18 T C 1: 89,896,411 (GRCm39) T210A probably benign Het
Cd8b1 C T 6: 71,303,006 (GRCm39) S27L possibly damaging Het
Cfap43 C T 19: 47,728,236 (GRCm39) S1507N possibly damaging Het
Col12a1 A T 9: 79,547,247 (GRCm39) probably null Het
Col19a1 G A 1: 24,573,190 (GRCm39) T194M unknown Het
Cpb1 T A 3: 20,317,733 (GRCm39) T237S probably benign Het
Cubn G A 2: 13,470,841 (GRCm39) T517M probably damaging Het
Dnah6 T C 6: 73,106,274 (GRCm39) N1769S probably benign Het
Dnm1 A G 2: 32,225,984 (GRCm39) I365T probably damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Etv6 A G 6: 134,210,497 (GRCm39) E115G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gapvd1 C T 2: 34,618,747 (GRCm39) V209I probably damaging Het
Gbp8 G A 5: 105,198,928 (GRCm39) probably benign Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Grb14 T C 2: 64,783,966 (GRCm39) N54D probably damaging Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
Herc2 T A 7: 55,820,225 (GRCm39) L2849Q probably damaging Het
Hsd17b4 G T 18: 50,261,381 (GRCm39) probably benign Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Iqcd A T 5: 120,740,485 (GRCm39) E272V probably damaging Het
Itih2 A T 2: 10,111,548 (GRCm39) Y463* probably null Het
Kcna10 G A 3: 107,102,781 (GRCm39) E471K possibly damaging Het
Klf3 A T 5: 64,986,347 (GRCm39) E294V possibly damaging Het
Lancl1 A T 1: 67,060,015 (GRCm39) probably null Het
Lrig3 T C 10: 125,846,877 (GRCm39) F882L probably benign Het
Man2c1 A G 9: 57,046,367 (GRCm39) N474S probably damaging Het
Map4k3 A G 17: 80,922,444 (GRCm39) probably null Het
Mast1 C A 8: 85,647,520 (GRCm39) W572C probably damaging Het
Mbd4 T A 6: 115,826,076 (GRCm39) Q305L possibly damaging Het
Mbl2 T A 19: 30,216,916 (GRCm39) S243T probably benign Het
Mcph1 C T 8: 18,682,557 (GRCm39) P565S probably benign Het
Mfsd1 G C 3: 67,507,943 (GRCm39) V435L probably benign Het
Mycbp2 C T 14: 103,360,881 (GRCm39) G1183D probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Noa1 A T 5: 77,454,219 (GRCm39) S474T probably benign Het
Nrde2 A G 12: 100,096,843 (GRCm39) Y986H probably benign Het
Oca2 G T 7: 56,064,182 (GRCm39) V726F possibly damaging Het
Or2ag13 T A 7: 106,472,580 (GRCm39) S291C probably damaging Het
Or7a41 A T 10: 78,871,244 (GRCm39) M205L probably benign Het
Pip5k1a A G 3: 94,975,370 (GRCm39) probably null Het
Plekhn1 A T 4: 156,309,730 (GRCm39) probably null Het
Sec61a2 T C 2: 5,887,670 (GRCm39) D104G probably benign Het
Skic3 A T 13: 76,303,784 (GRCm39) Y1234F probably damaging Het
Slc25a36 T C 9: 96,967,171 (GRCm39) T131A probably benign Het
Slc5a11 A T 7: 122,857,700 (GRCm39) D263V probably damaging Het
Sorbs1 T C 19: 40,384,189 (GRCm39) I35V probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tbc1d1 T C 5: 64,331,013 (GRCm39) V64A possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r20 A G 6: 57,409,042 (GRCm39) M123V probably benign Het
Zwint T C 10: 72,492,095 (GRCm39) L59P probably damaging Het
Other mutations in Ldaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2164:Ldaf1 UTSW 7 119,719,462 (GRCm39) missense possibly damaging 0.62
R4937:Ldaf1 UTSW 7 119,715,535 (GRCm39) missense probably damaging 1.00
R6437:Ldaf1 UTSW 7 119,715,584 (GRCm39) splice site probably null
R7608:Ldaf1 UTSW 7 119,704,011 (GRCm39) missense probably damaging 0.97
R7748:Ldaf1 UTSW 7 119,714,702 (GRCm39) missense possibly damaging 0.94
Z1176:Ldaf1 UTSW 7 119,714,714 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTATGAGCCTCTGACTTG -3'
(R):5'- AAGCTGCCTTGGACCAGAAAG -3'

Sequencing Primer
(F):5'- TATGAGCCTCTGACTTGCCAAAGG -3'
(R):5'- TTGGACCAGAAAGAGGAGCCTTTG -3'
Posted On 2015-07-07