Incidental Mutation 'R9482:Angptl7'
ID 716298
Institutional Source Beutler Lab
Gene Symbol Angptl7
Ensembl Gene ENSMUSG00000028989
Gene Name angiopoietin-like 7
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9482 (G1)
Quality Score 177.009
Status Not validated
Chromosome 4
Chromosomal Location 148579737-148584919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 148584575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 58 (S58R)
Ref Sequence ENSEMBL: ENSMUSP00000030840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030840] [ENSMUST00000103221]
AlphaFold Q8R1Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000030840
AA Change: S58R

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030840
Gene: ENSMUSG00000028989
AA Change: S58R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
coiled coil region 36 110 N/A INTRINSIC
FBG 117 333 7.61e-124 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103221
SMART Domains Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
low complexity region 179 191 N/A INTRINSIC
low complexity region 277 288 N/A INTRINSIC
low complexity region 774 790 N/A INTRINSIC
DUF3385 854 1024 1.51e-93 SMART
low complexity region 1279 1300 N/A INTRINSIC
Pfam:FAT 1513 1908 2.3e-134 PFAM
Rapamycin_bind 2015 2114 7.94e-61 SMART
PI3Kc 2183 2484 8.84e-121 SMART
FATC 2517 2549 2.11e-15 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,307,423 (GRCm39) V793A probably benign Het
Als2 G T 1: 59,231,109 (GRCm39) P834Q probably damaging Het
Alx1 T C 10: 102,864,335 (GRCm39) T45A probably benign Het
Atg3 A G 16: 44,979,481 (GRCm39) T7A probably benign Het
Bpifc A T 10: 85,815,118 (GRCm39) S283T possibly damaging Het
C2cd2l T A 9: 44,227,914 (GRCm39) E231V probably damaging Het
Cdk5r2 T C 1: 74,894,504 (GRCm39) V83A probably damaging Het
Chst10 T C 1: 38,907,116 (GRCm39) E178G probably damaging Het
Crocc2 T A 1: 93,143,106 (GRCm39) L1236Q probably benign Het
Dleu7 T C 14: 62,514,351 (GRCm39) *210W probably null Het
Emc1 T G 4: 139,088,201 (GRCm39) V323G probably damaging Het
Fcrla T C 1: 170,745,949 (GRCm39) T278A probably benign Het
Flrt3 T C 2: 140,503,590 (GRCm39) T13A probably benign Het
Galntl6 A T 8: 58,310,549 (GRCm39) probably null Het
Gen1 A G 12: 11,305,186 (GRCm39) V203A possibly damaging Het
Gm3149 T A 14: 15,698,287 (GRCm39) V169E probably benign Het
Hjurp CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA C 1: 88,193,996 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,610,281 (GRCm39) S1463P probably benign Het
Irag1 A T 7: 110,545,259 (GRCm39) D12E probably benign Het
Jsrp1 A T 10: 80,644,734 (GRCm39) I224N possibly damaging Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Kcnma1 A T 14: 23,441,033 (GRCm39) M591K probably benign Het
Kmt2d A C 15: 98,763,046 (GRCm39) W268G probably damaging Het
Knop1 A G 7: 118,447,710 (GRCm39) S417P unknown Het
Lpin3 T C 2: 160,746,416 (GRCm39) F692L probably damaging Het
Mycbp T C 4: 123,803,880 (GRCm39) C130R unknown Het
Myh1 T C 11: 67,108,745 (GRCm39) I1387T probably damaging Het
Nbeal2 T C 9: 110,463,066 (GRCm39) D1333G probably benign Het
Nedd4l G T 18: 65,021,031 (GRCm39) probably benign Het
Nucks1 A G 1: 131,846,744 (GRCm39) N7D probably benign Het
Nup210 A G 6: 91,019,608 (GRCm39) I991T probably damaging Het
Or4a72 C T 2: 89,405,953 (GRCm39) G39D probably damaging Het
Pcdhb3 A G 18: 37,434,736 (GRCm39) D234G probably damaging Het
Phyh C T 2: 4,923,863 (GRCm39) probably benign Het
Pik3c2a G A 7: 115,961,289 (GRCm39) T1070I probably benign Het
Prss52 C T 14: 64,351,129 (GRCm39) L305F probably damaging Het
Rasef T C 4: 73,708,933 (GRCm39) D100G probably benign Het
Rb1 A C 14: 73,443,493 (GRCm39) M754R probably damaging Het
Rbm6 T C 9: 107,669,208 (GRCm39) Q568R possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,206 (GRCm39) S41P possibly damaging Het
Serf2 C A 2: 121,281,205 (GRCm39) D40E possibly damaging Het
Sh2b1 AGCTC AGCTCAGCCACGGGGACCCGCTC 7: 126,066,768 (GRCm39) probably benign Het
Sympk G T 7: 18,771,986 (GRCm39) R350L possibly damaging Het
Tab2 C A 10: 7,795,124 (GRCm39) V379L probably damaging Het
Tnk1 T G 11: 69,743,666 (GRCm39) T485P probably benign Het
Trmt6 T C 2: 132,648,699 (GRCm39) T412A probably benign Het
Vgll3 A G 16: 65,636,229 (GRCm39) T182A probably benign Het
Zfat A G 15: 68,084,652 (GRCm39) S80P probably damaging Het
Zfp1004 C A 2: 150,034,711 (GRCm39) T344K probably benign Het
Zfyve26 A G 12: 79,291,239 (GRCm39) L2122S probably damaging Het
Other mutations in Angptl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02367:Angptl7 APN 4 148,584,601 (GRCm39) missense possibly damaging 0.78
IGL02888:Angptl7 APN 4 148,580,788 (GRCm39) intron probably benign
R1725:Angptl7 UTSW 4 148,584,469 (GRCm39) missense probably damaging 0.96
R1772:Angptl7 UTSW 4 148,581,883 (GRCm39) missense probably damaging 1.00
R1812:Angptl7 UTSW 4 148,582,540 (GRCm39) missense probably damaging 0.96
R2853:Angptl7 UTSW 4 148,584,736 (GRCm39) missense probably benign
R2973:Angptl7 UTSW 4 148,584,671 (GRCm39) nonsense probably null
R4944:Angptl7 UTSW 4 148,584,534 (GRCm39) missense probably damaging 1.00
R5049:Angptl7 UTSW 4 148,582,468 (GRCm39) missense probably benign 0.19
R5154:Angptl7 UTSW 4 148,581,882 (GRCm39) missense probably damaging 1.00
R5725:Angptl7 UTSW 4 148,580,965 (GRCm39) missense possibly damaging 0.95
R6919:Angptl7 UTSW 4 148,584,488 (GRCm39) missense probably benign 0.09
R6977:Angptl7 UTSW 4 148,581,850 (GRCm39) missense probably damaging 1.00
R7682:Angptl7 UTSW 4 148,582,539 (GRCm39) missense probably damaging 0.96
R7909:Angptl7 UTSW 4 148,580,667 (GRCm39) missense probably benign
R8103:Angptl7 UTSW 4 148,581,018 (GRCm39) missense probably damaging 1.00
R8337:Angptl7 UTSW 4 148,581,741 (GRCm39) missense probably damaging 0.99
R8936:Angptl7 UTSW 4 148,581,790 (GRCm39) missense probably benign 0.00
R8939:Angptl7 UTSW 4 148,580,956 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTGTGGAGGCAGCACTTAC -3'
(R):5'- TCTCCAGGGACAGACTCTAAG -3'

Sequencing Primer
(F):5'- AGCACTTACCTGCCGAGG -3'
(R):5'- CTCTAAGGGGAACAGGCCTG -3'
Posted On 2022-07-18