Incidental Mutation 'R6437:Ldaf1'
ID 518815
Institutional Source Beutler Lab
Gene Symbol Ldaf1
Ensembl Gene ENSMUSG00000030917
Gene Name lipid droplet assembly factor 1
Synonyms Tmem159, 8430420C20Rik
MMRRC Submission 044575-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6437 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119701599-119720212 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 119715584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033210] [ENSMUST00000118737]
AlphaFold Q922Z1
Predicted Effect probably null
Transcript: ENSMUST00000033210
SMART Domains Protein: ENSMUSP00000033210
Gene: ENSMUSG00000030917

DomainStartEndE-ValueType
Pfam:Promethin 20 128 2.4e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000118737
SMART Domains Protein: ENSMUSP00000114085
Gene: ENSMUSG00000030917

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,582,347 (GRCm39) V794E probably damaging Het
Agrn C T 4: 156,261,235 (GRCm39) V514I probably damaging Het
Atg16l1 T C 1: 87,718,370 (GRCm39) L545P probably damaging Het
Ces3b T A 8: 105,819,238 (GRCm39) D431E probably damaging Het
Cracr2a A G 6: 127,608,794 (GRCm39) D291G probably damaging Het
Csmd2 T G 4: 127,881,893 (GRCm39) C11G probably benign Het
Cstdc3 A G 16: 36,132,999 (GRCm39) E92G probably damaging Het
Dido1 A G 2: 180,316,806 (GRCm39) I127T probably damaging Het
Dpp8 A T 9: 64,981,860 (GRCm39) Y714F probably benign Het
Efcab5 G A 11: 77,028,728 (GRCm39) A201V probably benign Het
Eif3h C T 15: 51,662,660 (GRCm39) V129I probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fars2 G A 13: 36,388,846 (GRCm39) V112I probably benign Het
Fbn2 T G 18: 58,246,435 (GRCm39) D489A probably damaging Het
Frmd4b G T 6: 97,273,228 (GRCm39) S675R probably damaging Het
Fsip2 C T 2: 82,813,836 (GRCm39) S3385F possibly damaging Het
Gtpbp10 A G 5: 5,607,406 (GRCm39) Y12H probably damaging Het
Kcng3 A G 17: 83,938,558 (GRCm39) S164P probably damaging Het
Kifap3 T A 1: 163,685,095 (GRCm39) L483Q probably damaging Het
Klk10 A G 7: 43,432,241 (GRCm39) H58R probably benign Het
Kntc1 T G 5: 123,907,754 (GRCm39) W452G probably damaging Het
Krt87 C T 15: 101,336,273 (GRCm39) D127N possibly damaging Het
Lipm A G 19: 34,098,657 (GRCm39) Y377C probably damaging Het
Mrc2 G A 11: 105,240,669 (GRCm39) R1453H probably damaging Het
Nat1 T C 8: 67,944,388 (GRCm39) F255L possibly damaging Het
Neb C T 2: 52,147,569 (GRCm39) probably null Het
Nek5 T A 8: 22,575,476 (GRCm39) D491V possibly damaging Het
Nynrin T C 14: 56,109,227 (GRCm39) S1445P probably benign Het
Oog2 T A 4: 143,921,678 (GRCm39) probably null Het
Or2j6 C T 7: 139,980,434 (GRCm39) C175Y probably damaging Het
Pafah1b1 T C 11: 74,568,557 (GRCm39) T391A probably benign Het
Pcdhb7 T C 18: 37,475,743 (GRCm39) L293P probably damaging Het
Plce1 A T 19: 38,513,576 (GRCm39) T292S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rfx7 A G 9: 72,525,768 (GRCm39) Q986R possibly damaging Het
Rrp9 G T 9: 106,360,150 (GRCm39) R186L probably benign Het
Samm50 T A 15: 84,088,298 (GRCm39) probably null Het
Scoc T C 8: 84,164,616 (GRCm39) D7G probably benign Het
Smad9 C T 3: 54,693,505 (GRCm39) P145S probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snrk A G 9: 121,995,879 (GRCm39) R553G probably damaging Het
Srcap T A 7: 127,127,722 (GRCm39) probably null Het
Syne2 T A 12: 76,037,188 (GRCm39) V3789E possibly damaging Het
Thsd7b T C 1: 129,744,419 (GRCm39) I769T probably damaging Het
Ttc7 A G 17: 87,637,534 (GRCm39) K430E probably damaging Het
Ubr4 T A 4: 139,124,525 (GRCm39) probably null Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r37 G T 7: 9,220,850 (GRCm39) Q338K probably damaging Het
Yod1 T C 1: 130,646,885 (GRCm39) V254A probably damaging Het
Zfpm2 T C 15: 40,962,793 (GRCm39) S152P probably benign Het
Zmym2 T A 14: 57,140,461 (GRCm39) L100H probably damaging Het
Other mutations in Ldaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2164:Ldaf1 UTSW 7 119,719,462 (GRCm39) missense possibly damaging 0.62
R4405:Ldaf1 UTSW 7 119,714,714 (GRCm39) missense probably damaging 1.00
R4937:Ldaf1 UTSW 7 119,715,535 (GRCm39) missense probably damaging 1.00
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'- GGCTGGGTCTTCTCATTCTCAG -3'
(R):5'- CAGGGAGGTTAGCAATGTCTG -3'

Sequencing Primer
(F):5'- TCATTCTCAGCCTACTTCAGATG -3'
(R):5'- GAGGTTAGCAATGTCTGTATGTATG -3'
Posted On 2018-05-24