Incidental Mutation 'R4450:Angel1'
ID 328940
Institutional Source Beutler Lab
Gene Symbol Angel1
Ensembl Gene ENSMUSG00000021257
Gene Name angel homolog 1
Synonyms 1110030H02Rik
MMRRC Submission 041711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R4450 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 86747276-86773234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86768698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 262 (Y262N)
Ref Sequence ENSEMBL: ENSMUSP00000021682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021682]
AlphaFold Q8VCU0
Predicted Effect probably damaging
Transcript: ENSMUST00000021682
AA Change: Y262N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021682
Gene: ENSMUSG00000021257
AA Change: Y262N

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: ENSMUST00000171293
Meta Mutation Damage Score 0.9622 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
Acsl6 A G 11: 54,219,229 (GRCm39) D278G probably damaging Het
Adamdec1 C T 14: 68,810,568 (GRCm39) R196Q probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Arhgef18 A G 8: 3,487,097 (GRCm39) E272G probably damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Brca2 T G 5: 150,459,518 (GRCm39) D264E probably damaging Het
Cdca4 T C 12: 112,785,278 (GRCm39) N150S probably benign Het
Cep162 T C 9: 87,107,861 (GRCm39) S510G probably damaging Het
Cldn12 T C 5: 5,558,398 (GRCm39) T10A probably damaging Het
Clip2 C T 5: 134,531,807 (GRCm39) G631D possibly damaging Het
Col19a1 T A 1: 24,361,116 (GRCm39) T625S probably damaging Het
Col6a5 C T 9: 105,781,720 (GRCm39) G1635D unknown Het
Dcp1b A G 6: 119,183,437 (GRCm39) T175A probably benign Het
Eln C T 5: 134,754,635 (GRCm39) probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm9894 T A 13: 67,913,199 (GRCm39) noncoding transcript Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Klhl42 G A 6: 146,993,169 (GRCm39) G47D probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lzts2 A T 19: 45,012,032 (GRCm39) K154* probably null Het
Map4k3 C T 17: 80,911,411 (GRCm39) probably null Het
Mlc1 A G 15: 88,847,693 (GRCm39) F285S probably benign Het
Myo5a T A 9: 75,074,458 (GRCm39) M789K probably benign Het
Nbeal1 T A 1: 60,306,933 (GRCm39) S319T probably damaging Het
Nsun4 A T 4: 115,908,453 (GRCm39) Y702* probably null Het
Or8b52 A T 9: 38,577,050 (GRCm39) V30E probably benign Het
Or8g34 G A 9: 39,373,328 (GRCm39) M200I probably benign Het
Osbpl5 T A 7: 143,248,643 (GRCm39) T640S probably benign Het
Plaat1 C T 16: 29,046,976 (GRCm39) T165M possibly damaging Het
Rangrf A T 11: 68,866,010 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,404,786 (GRCm39) probably benign Het
Ros1 C T 10: 51,954,038 (GRCm39) G1867D probably damaging Het
Slc11a1 C A 1: 74,424,694 (GRCm39) probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Syt6 A G 3: 103,492,961 (GRCm39) H156R probably benign Het
Tln2 C T 9: 67,251,347 (GRCm39) probably null Het
Trim58 T C 11: 58,542,191 (GRCm39) W384R probably benign Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
R4291:Angel1 UTSW 12 86,767,057 (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
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'- AATCTTAGCTCATCTGGCACGG -3'
(R):5'- TAACCTGCATGTCCTCTGGAG -3'

Sequencing Primer
(F):5'- TGGCATCATCTGGATAGCTATGGAAC -3'
(R):5'- GCATGTCCTCTGGAGCTCCTC -3'
Posted On 2015-07-21