Incidental Mutation 'R0842:Angptl8'
ID 77218
Institutional Source Beutler Lab
Gene Symbol Angptl8
Ensembl Gene ENSMUSG00000047822
Gene Name angiopoietin-like 8
Synonyms Gm6484, Rifl, Lipasin
MMRRC Submission 039021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0842 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21746806-21748643 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 21746972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 53 (Y53*)
Ref Sequence ENSEMBL: ENSMUSP00000058951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000058777] [ENSMUST00000217336]
AlphaFold Q8R1L8
Predicted Effect probably benign
Transcript: ENSMUST00000034728
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
Pfam:DUF3398 63 155 4.7e-26 PFAM
low complexity region 419 429 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
Pfam:DOCK-C2 542 721 3.4e-46 PFAM
low complexity region 754 770 N/A INTRINSIC
low complexity region 776 787 N/A INTRINSIC
low complexity region 945 965 N/A INTRINSIC
low complexity region 1057 1072 N/A INTRINSIC
low complexity region 1123 1153 N/A INTRINSIC
low complexity region 1173 1190 N/A INTRINSIC
low complexity region 1340 1356 N/A INTRINSIC
Pfam:DHR-2 1554 2080 6.6e-214 PFAM
low complexity region 2093 2107 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000058777
AA Change: Y53*
SMART Domains Protein: ENSMUSP00000058951
Gene: ENSMUSG00000047822
AA Change: Y53*

DomainStartEndE-ValueType
low complexity region 171 191 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213296
Predicted Effect probably benign
Transcript: ENSMUST00000216626
Predicted Effect probably benign
Transcript: ENSMUST00000217336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217515
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation exhibit markedly reduced serum triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip G A 2: 22,757,678 (GRCm39) R432Q possibly damaging Het
Catsperb A T 12: 101,429,307 (GRCm39) Q160L probably damaging Het
Cdhr18 G A 14: 13,856,686 (GRCm38) S475L probably benign Het
Cilp2 T C 8: 70,335,768 (GRCm39) Y410C probably damaging Het
Cntnap5a G A 1: 116,369,953 (GRCm39) G857S probably damaging Het
D630045J12Rik A T 6: 38,125,400 (GRCm39) V1538E probably damaging Het
Dnah7a A G 1: 53,540,833 (GRCm39) S2514P possibly damaging Het
Eme1 C T 11: 94,541,700 (GRCm39) A41T probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fap A T 2: 62,367,345 (GRCm39) W313R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Ggt6 T A 11: 72,328,088 (GRCm39) L158* probably null Het
Herc2 A C 7: 55,771,453 (GRCm39) I1072L probably benign Het
Hhat T C 1: 192,408,639 (GRCm39) N164S probably benign Het
Klrb1 A G 6: 128,687,008 (GRCm39) probably null Het
L3mbtl4 T A 17: 68,793,957 (GRCm39) D320E probably benign Het
Lyst C A 13: 13,852,826 (GRCm39) Y2275* probably null Het
Map4k3 T C 17: 80,913,412 (GRCm39) N611S probably benign Het
Morc3 T C 16: 93,670,284 (GRCm39) probably null Het
Mtr A C 13: 12,215,133 (GRCm39) Y864D probably damaging Het
Myh2 C T 11: 67,070,350 (GRCm39) A431V possibly damaging Het
Myo9a C A 9: 59,778,350 (GRCm39) Q1369K probably benign Het
Nalf1 T A 8: 9,820,114 (GRCm39) D302V probably benign Het
Nat3 T C 8: 68,000,649 (GRCm39) I176T probably benign Het
Ncapd3 C T 9: 26,948,380 (GRCm39) T54I probably benign Het
Nfyc C A 4: 120,616,574 (GRCm39) E281D probably benign Het
Nlrp14 A G 7: 106,782,342 (GRCm39) D513G probably benign Het
Pacsin2 T C 15: 83,263,382 (GRCm39) E83G probably damaging Het
Plagl1 G T 10: 13,004,298 (GRCm39) probably benign Het
Pmpcb T C 5: 21,953,772 (GRCm39) L340P possibly damaging Het
Pou2af3 T C 9: 51,183,668 (GRCm39) E102G probably benign Het
Pou2f2 A T 7: 24,796,355 (GRCm39) L364Q probably damaging Het
Rab1b A T 19: 5,154,697 (GRCm39) I84N probably damaging Het
Ric3 T C 7: 108,638,087 (GRCm39) Y222C probably damaging Het
Samhd1 A G 2: 156,965,251 (GRCm39) V188A probably damaging Het
Socs4 T A 14: 47,527,426 (GRCm39) H107Q probably damaging Het
Tex15 T A 8: 34,061,575 (GRCm39) I335K possibly damaging Het
Thoc2l T A 5: 104,667,066 (GRCm39) N529K possibly damaging Het
Thop1 C A 10: 80,911,411 (GRCm39) T99K probably damaging Het
Tnik A G 3: 28,648,235 (GRCm39) E429G possibly damaging Het
Vmn2r106 T A 17: 20,488,465 (GRCm39) I645F probably damaging Het
Zscan29 T A 2: 120,991,960 (GRCm39) R609S possibly damaging Het
Other mutations in Angptl8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Angptl8 APN 9 21,748,349 (GRCm39) intron probably benign
R2014:Angptl8 UTSW 9 21,748,358 (GRCm39) splice site probably null
R2402:Angptl8 UTSW 9 21,747,112 (GRCm39) critical splice donor site probably null
R7583:Angptl8 UTSW 9 21,747,210 (GRCm39) critical splice acceptor site probably null
R8332:Angptl8 UTSW 9 21,748,137 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATCAGCATGGCCTGCTTAGCCATC -3'
(R):5'- AGCTCCAGTGCTCACCTGAATCTC -3'

Sequencing Primer
(F):5'- TGATGCAATGGCTGAGCCTC -3'
(R):5'- AATCTCCGACAGGCTGGTG -3'
Posted On 2013-10-16