Incidental Mutation 'R4291:Angel1'
ID 323076
Institutional Source Beutler Lab
Gene Symbol Angel1
Ensembl Gene ENSMUSG00000021257
Gene Name angel homolog 1
Synonyms 1110030H02Rik
MMRRC Submission 041081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R4291 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 86747276-86773234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86767057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 440 (Y440H)
Ref Sequence ENSEMBL: ENSMUSP00000021682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021682]
AlphaFold Q8VCU0
Predicted Effect probably damaging
Transcript: ENSMUST00000021682
AA Change: Y440H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021682
Gene: ENSMUSG00000021257
AA Change: Y440H

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Exo_endo_phos 245 653 4.1e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171293
Meta Mutation Damage Score 0.5978 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,120,337 (GRCm39) F27S probably benign Het
AK157302 T A 13: 21,679,715 (GRCm39) D80E probably damaging Het
Amz2 T C 11: 109,324,881 (GRCm39) probably null Het
Ankrd34c T A 9: 89,611,817 (GRCm39) K175* probably null Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Brpf3 G A 17: 29,042,949 (GRCm39) V997M probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cd96 T A 16: 45,892,112 (GRCm39) Q292L probably damaging Het
Cdh18 C A 15: 22,714,637 (GRCm39) probably benign Het
Cfb T G 17: 35,080,114 (GRCm39) D122A possibly damaging Het
Copa G T 1: 171,919,964 (GRCm39) probably benign Het
Ctnna2 T A 6: 76,859,728 (GRCm39) K854N probably damaging Het
Cwh43 G A 5: 73,569,275 (GRCm39) V106M probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Dnah8 T C 17: 30,967,533 (GRCm39) S2582P probably benign Het
Eef2 A G 10: 81,015,414 (GRCm39) T312A probably benign Het
Enpep T A 3: 129,063,966 (GRCm39) R934* probably null Het
Fam240b A T 13: 64,629,627 (GRCm39) M63K possibly damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gsn G A 2: 35,180,432 (GRCm39) V147I probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hectd3 A G 4: 116,852,889 (GRCm39) E97G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Krba1 C T 6: 48,392,599 (GRCm39) P802S possibly damaging Het
Lca5l C T 16: 95,979,974 (GRCm39) S52N probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Map3k4 G T 17: 12,474,147 (GRCm39) Q845K probably benign Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mcm9 C A 10: 53,423,668 (GRCm39) M677I probably benign Het
Mkrn2 A G 6: 115,594,395 (GRCm39) T369A possibly damaging Het
Mthfr C A 4: 148,139,949 (GRCm39) N623K probably damaging Het
Myh2 T C 11: 67,071,985 (GRCm39) V571A probably benign Het
Nom1 G A 5: 29,651,370 (GRCm39) probably null Het
Nucb1 T A 7: 45,144,704 (GRCm39) D283V probably damaging Het
Or12e8 G A 2: 87,188,419 (GRCm39) M210I probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Pcdhb1 A C 18: 37,398,470 (GRCm39) L140F probably damaging Het
Ptgs2 G A 1: 149,976,002 (GRCm39) A10T probably benign Het
Rfx3 C T 19: 27,777,632 (GRCm39) R497Q probably damaging Het
Rps6kb1 A T 11: 86,410,702 (GRCm39) probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Tet3 T C 6: 83,350,181 (GRCm39) T961A probably damaging Het
Ttc27 T C 17: 75,163,474 (GRCm39) L694P probably damaging Het
Vmn1r238 G A 18: 3,123,214 (GRCm39) Q67* probably null Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwf A T 6: 125,619,285 (GRCm39) Y1321F probably damaging Het
Wfdc1 C A 8: 120,406,194 (GRCm39) P103Q probably damaging Het
Zfp488 C A 14: 33,692,851 (GRCm39) C104F possibly damaging Het
Other mutations in Angel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Angel1 APN 12 86,763,800 (GRCm39) missense probably benign
IGL02712:Angel1 APN 12 86,769,613 (GRCm39) splice site probably benign
IGL02738:Angel1 APN 12 86,752,060 (GRCm39) missense probably benign 0.10
R0521:Angel1 UTSW 12 86,769,681 (GRCm39) missense probably benign 0.01
R0626:Angel1 UTSW 12 86,764,487 (GRCm39) critical splice donor site probably null
R1929:Angel1 UTSW 12 86,749,093 (GRCm39) missense probably damaging 1.00
R4292:Angel1 UTSW 12 86,767,057 (GRCm39) missense probably damaging 1.00
R4295:Angel1 UTSW 12 86,767,057 (GRCm39) missense probably damaging 1.00
R4450:Angel1 UTSW 12 86,768,698 (GRCm39) missense probably damaging 1.00
R4726:Angel1 UTSW 12 86,768,649 (GRCm39) missense probably damaging 0.99
R7097:Angel1 UTSW 12 86,773,158 (GRCm39) missense probably damaging 0.98
R7284:Angel1 UTSW 12 86,767,298 (GRCm39) missense probably damaging 1.00
R7616:Angel1 UTSW 12 86,764,510 (GRCm39) missense probably benign 0.00
R7984:Angel1 UTSW 12 86,767,068 (GRCm39) missense probably benign 0.33
R9010:Angel1 UTSW 12 86,770,153 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CAGAGGAATCGCTTGCAAAC -3'
(R):5'- GTGTGTGGCAAATACCCATG -3'

Sequencing Primer
(F):5'- GCCCGAGGTATTCATGTGC -3'
(R):5'- GTGTGGCAAATACCCATGTCCTG -3'
Posted On 2015-06-20