Incidental Mutation 'IGL02982:Arf2'
ID 406593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arf2
Ensembl Gene ENSMUSG00000062421
Gene Name ADP-ribosylation factor 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02982
Quality Score
Status
Chromosome 11
Chromosomal Location 103966739-103985337 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 103981776 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 74 (D74E)
Ref Sequence ENSEMBL: ENSMUSP00000120473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057921] [ENSMUST00000063347] [ENSMUST00000154089]
AlphaFold Q8BSL7
Predicted Effect probably benign
Transcript: ENSMUST00000057921
AA Change: D114E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000051814
Gene: ENSMUSG00000062421
AA Change: D114E

DomainStartEndE-ValueType
ARF 1 181 1.58e-140 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063347
AA Change: D114E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102622
Gene: ENSMUSG00000062421
AA Change: D114E

DomainStartEndE-ValueType
ARF 1 181 1.58e-140 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153092
Predicted Effect probably damaging
Transcript: ENSMUST00000154089
AA Change: D74E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120473
Gene: ENSMUSG00000062421
AA Change: D74E

DomainStartEndE-ValueType
Pfam:Arf 42 101 6.5e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 24,804,431 A384D probably benign Het
Adamts19 T A 18: 59,024,518 C961S probably damaging Het
Agbl2 G A 2: 90,805,815 C565Y probably damaging Het
Aox3 G A 1: 58,127,687 E190K probably benign Het
Bptf T G 11: 107,076,674 D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ces1a A G 8: 93,044,975 F65L probably damaging Het
Def8 T C 8: 123,456,539 probably benign Het
Fat4 T C 3: 38,890,843 L1295P probably damaging Het
Filip1l A G 16: 57,572,232 H1061R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gldc A G 19: 30,145,145 probably null Het
Gm597 T C 1: 28,778,054 H299R probably damaging Het
Golgb1 A C 16: 36,925,810 D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 L252Q probably damaging Het
Iars C T 13: 49,709,709 R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 V399L probably benign Het
Kcnd2 A T 6: 21,217,149 D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 H155Q probably damaging Het
Mcm9 A G 10: 53,625,826 V221A probably damaging Het
Myo9a A T 9: 59,908,208 K2237* probably null Het
Ntf3 A T 6: 126,102,377 D55E probably damaging Het
Olfr1229 G T 2: 89,283,109 T29K probably damaging Het
Olfr61 A T 7: 140,637,952 I84F probably benign Het
Plek T A 11: 16,981,826 I342F probably damaging Het
Polrmt A G 10: 79,738,348 Y853H probably damaging Het
Psg29 A G 7: 17,211,707 T401A probably damaging Het
Ptprb A G 10: 116,322,628 T822A probably benign Het
Ptprq A C 10: 107,586,684 F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 V19E probably damaging Het
Scamp2 G A 9: 57,581,549 A178T probably benign Het
Spta1 A G 1: 174,187,288 I445V probably benign Het
Tas2r135 A G 6: 42,406,253 E242G probably benign Het
Ttc22 T C 4: 106,638,586 V379A probably damaging Het
Unc5d C T 8: 28,652,853 G857E probably damaging Het
Usp28 A G 9: 49,018,439 I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 M152K probably benign Het
Wrn C T 8: 33,343,066 G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 T187M probably damaging Het
Zic2 A G 14: 122,478,567 E367G probably damaging Het
Other mutations in Arf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4750:Arf2 UTSW 11 103979759 critical splice donor site probably null
R5759:Arf2 UTSW 11 103983633 missense probably benign 0.06
R7443:Arf2 UTSW 11 103969150 missense probably benign 0.35
R8747:Arf2 UTSW 11 103969149 missense probably benign 0.05
R8879:Arf2 UTSW 11 103979759 critical splice donor site probably null
Posted On 2016-08-02