Incidental Mutation 'R4013:Apold1'
ID 311816
Institutional Source Beutler Lab
Gene Symbol Apold1
Ensembl Gene ENSMUSG00000090698
Gene Name apolipoprotein L domain containing 1
Synonyms LOC381823
MMRRC Submission 040950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R4013 (G1)
Quality Score 155
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: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
Validation Efficiency 98% (47/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,668,104 (GRCm39) Q168R probably benign Het
Adgrg3 A G 8: 95,761,727 (GRCm39) probably benign Het
Atp6v0a2 G A 5: 124,789,860 (GRCm39) V429M probably damaging Het
Cbln4 A T 2: 171,879,477 (GRCm39) M137K probably damaging Het
Cfap57 A G 4: 118,450,340 (GRCm39) V594A probably benign Het
Chd9 A G 8: 91,699,797 (GRCm39) E28G possibly damaging Het
Clip4 T A 17: 72,163,541 (GRCm39) C704* probably null Het
Col8a2 T A 4: 126,204,908 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,016,193 (GRCm39) T17A probably benign Het
Cyp4f14 G A 17: 33,135,853 (GRCm39) Q3* probably null Het
Cysltr2 A G 14: 73,267,005 (GRCm39) I235T probably damaging Het
Esp34 C A 17: 38,870,446 (GRCm39) C45* probably null Het
Gabrg2 T C 11: 41,862,707 (GRCm39) K126E possibly damaging Het
Gm4846 A C 1: 166,322,249 (GRCm39) probably null Het
Igsf21 T C 4: 139,764,780 (GRCm39) N165S possibly damaging Het
Kcnf1 A G 12: 17,225,994 (GRCm39) F76L probably benign Het
Kcns1 A G 2: 164,010,177 (GRCm39) V194A probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Kdm5b A G 1: 134,555,067 (GRCm39) Y1325C possibly damaging Het
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrrc63 A G 14: 75,335,731 (GRCm39) Y460H probably damaging Het
Myo15b G T 11: 115,762,282 (GRCm39) E1201* probably null Het
Ndor1 A T 2: 25,140,162 (GRCm39) I84K probably damaging Het
Ndst4 T A 3: 125,476,819 (GRCm39) Y15N probably damaging Het
Or51af1 T C 7: 103,141,840 (GRCm39) T82A probably benign Het
Or5ar1 A G 2: 85,671,725 (GRCm39) S137P probably damaging Het
Pik3r6 T A 11: 68,424,347 (GRCm39) D317E possibly damaging Het
Ppp2r1a G A 17: 21,171,609 (GRCm39) R28H probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpn12 G A 5: 21,197,741 (GRCm39) P700L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc39a13 T C 2: 90,895,247 (GRCm39) probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Taok1 A T 11: 77,450,659 (GRCm39) L371H possibly damaging Het
Tas2r116 A G 6: 132,833,230 (GRCm39) H277R probably damaging Het
Treml4 G A 17: 48,571,837 (GRCm39) R80Q probably benign Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Vmn2r52 G A 7: 9,904,603 (GRCm39) T412I probably benign Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Wdr93 T A 7: 79,418,159 (GRCm39) V294E possibly damaging Het
Other mutations in Apold1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0581:Apold1 UTSW 6 134,960,776 (GRCm39) missense probably benign 0.00
R4016:Apold1 UTSW 6 134,960,869 (GRCm39) missense probably benign
R4017: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'- CTTCCAAGGATTGCTGCTGG -3'
(R):5'- CTGAATCTTGGCCTTCAGGAC -3'

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