Incidental Mutation 'R4017:Apold1'
ID 311986
Institutional Source Beutler Lab
Gene Symbol Apold1
Ensembl Gene ENSMUSG00000090698
Gene Name apolipoprotein L domain containing 1
Synonyms LOC381823
MMRRC Submission 041611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R4017 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 134958964-134963799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134960869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 108 (I108V)
Ref Sequence ENSEMBL: ENSMUSP00000132366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167323]
AlphaFold E9Q0X2
Predicted Effect probably benign
Transcript: ENSMUST00000167323
AA Change: I108V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132366
Gene: ENSMUSG00000090698
AA Change: I108V

DomainStartEndE-ValueType
Pfam:ApoL 16 143 1.5e-16 PFAM
coiled coil region 192 220 N/A INTRINSIC
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 G T 19: 4,917,574 (GRCm39) T423N possibly damaging Het
Arhgap21 G T 2: 20,896,915 (GRCm39) F121L probably benign Het
BC004004 T C 17: 29,517,706 (GRCm39) S307P probably damaging Het
Cpeb4 A G 11: 31,874,671 (GRCm39) D484G probably damaging Het
Dctpp1 G A 7: 126,856,285 (GRCm39) R146C probably damaging Het
Dnm2 A G 9: 21,405,900 (GRCm39) Y553C probably damaging Het
Dync1h1 G T 12: 110,609,624 (GRCm39) R2802I probably damaging Het
Eif2a T A 3: 58,452,776 (GRCm39) M209K probably damaging Het
Epb41 A T 4: 131,709,756 (GRCm39) probably benign Het
Fnip1 A G 11: 54,400,813 (GRCm39) K1071E probably benign Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Klhl10 G A 11: 100,336,500 (GRCm39) M162I probably benign Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging Het
Muc5b G A 7: 141,417,367 (GRCm39) V3438M probably benign Het
Myo3a A G 2: 22,468,182 (GRCm39) R479G possibly damaging Het
Npr1 T C 3: 90,363,539 (GRCm39) E828G probably damaging Het
Obscn A G 11: 59,023,448 (GRCm39) F643S probably damaging Het
Or11h23 A T 14: 50,948,333 (GRCm39) D182V probably benign Het
Or12e1 A G 2: 87,022,846 (GRCm39) S272G probably benign Het
Pcdhga8 T C 18: 37,948,791 (GRCm39) V69A probably damaging Het
Ppp6r1 C A 7: 4,636,743 (GRCm39) C688F probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rnf157 A T 11: 116,250,067 (GRCm39) probably null Het
Saxo1 A T 4: 86,476,233 (GRCm39) I7N possibly damaging Het
Scn7a A T 2: 66,572,329 (GRCm39) I214N probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Suz12 G T 11: 79,904,292 (GRCm39) V211F probably damaging Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Uggt2 T C 14: 119,263,845 (GRCm39) N1062D possibly damaging Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Zfp940 T C 7: 29,545,359 (GRCm39) I183V probably benign Het
Other mutations in Apold1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0581:Apold1 UTSW 6 134,960,776 (GRCm39) missense probably benign 0.00
R4013:Apold1 UTSW 6 134,960,869 (GRCm39) missense probably benign
R4016:Apold1 UTSW 6 134,960,869 (GRCm39) missense probably benign
R4599:Apold1 UTSW 6 134,961,032 (GRCm39) missense probably damaging 1.00
R4909:Apold1 UTSW 6 134,960,558 (GRCm39) missense probably benign 0.00
R5154:Apold1 UTSW 6 134,960,636 (GRCm39) missense possibly damaging 0.62
R5275:Apold1 UTSW 6 134,960,763 (GRCm39) missense probably damaging 1.00
R5850:Apold1 UTSW 6 134,961,058 (GRCm39) missense probably damaging 0.99
R5958:Apold1 UTSW 6 134,960,686 (GRCm39) missense probably damaging 1.00
R6802:Apold1 UTSW 6 134,960,693 (GRCm39) missense probably damaging 1.00
R6867:Apold1 UTSW 6 134,961,019 (GRCm39) missense possibly damaging 0.60
R7012:Apold1 UTSW 6 134,961,007 (GRCm39) missense probably damaging 1.00
R8223:Apold1 UTSW 6 134,961,148 (GRCm39) missense probably benign 0.00
R9347:Apold1 UTSW 6 134,960,999 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTCCAAGGATTGCTGCTG -3'
(R):5'- TGAATCTTGGCCTTCAGGAC -3'

Sequencing Primer
(F):5'- AAGGATTGCTGCTGGACCG -3'
(R):5'- ACGGCCTGGCTCACTTTG -3'
Posted On 2015-04-29