Incidental Mutation 'IGL03099:Arpc5l'
ID 418667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpc5l
Ensembl Gene ENSMUSG00000026755
Gene Name actin related protein 2/3 complex, subunit 5-like
Synonyms ARC16-2, 2010015J01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # IGL03099
Quality Score
Status
Chromosome 2
Chromosomal Location 38895360-38905889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38903844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 111 (Y111C)
Ref Sequence ENSEMBL: ENSMUSP00000108483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000090993] [ENSMUST00000112850] [ENSMUST00000112862] [ENSMUST00000184996]
AlphaFold Q9D898
Predicted Effect probably benign
Transcript: ENSMUST00000039165
SMART Domains Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754

DomainStartEndE-ValueType
coiled coil region 51 104 N/A INTRINSIC
coiled coil region 126 169 N/A INTRINSIC
coiled coil region 190 555 N/A INTRINSIC
coiled coil region 599 647 N/A INTRINSIC
Grip 682 728 5.68e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090993
SMART Domains Protein: ENSMUSP00000088516
Gene: ENSMUSG00000026755

DomainStartEndE-ValueType
Pfam:P16-Arc 8 153 4.6e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112850
SMART Domains Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754

DomainStartEndE-ValueType
coiled coil region 53 144 N/A INTRINSIC
coiled coil region 165 530 N/A INTRINSIC
coiled coil region 574 622 N/A INTRINSIC
Grip 657 703 5.68e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112862
AA Change: Y111C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108483
Gene: ENSMUSG00000026755
AA Change: Y111C

DomainStartEndE-ValueType
Pfam:P16-Arc 9 153 2.4e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141467
Predicted Effect probably benign
Transcript: ENSMUST00000153914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149842
Predicted Effect probably benign
Transcript: ENSMUST00000154210
Predicted Effect probably benign
Transcript: ENSMUST00000184996
SMART Domains Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754

DomainStartEndE-ValueType
coiled coil region 51 104 N/A INTRINSIC
coiled coil region 126 169 N/A INTRINSIC
coiled coil region 190 555 N/A INTRINSIC
coiled coil region 599 647 N/A INTRINSIC
Grip 682 728 5.68e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C A 1: 87,055,328 (GRCm39) F458L probably benign Het
Alpi A G 1: 87,026,353 (GRCm39) L546P unknown Het
Atp11a T C 8: 12,877,462 (GRCm39) F296S possibly damaging Het
Bbof1 C T 12: 84,473,539 (GRCm39) Q290* probably null Het
Brinp3 A T 1: 146,777,835 (GRCm39) T761S possibly damaging Het
Cyp2j6 A T 4: 96,424,328 (GRCm39) M143K possibly damaging Het
Daw1 T C 1: 83,157,088 (GRCm39) probably null Het
Dst A G 1: 34,314,862 (GRCm39) N6498D probably damaging Het
Fbxo15 T C 18: 84,999,338 (GRCm39) L380P possibly damaging Het
Glce A T 9: 61,967,344 (GRCm39) F602L probably benign Het
Gpatch1 A G 7: 34,996,948 (GRCm39) S417P possibly damaging Het
Hjurp T C 1: 88,194,011 (GRCm39) K223R probably benign Het
Hnrnpm C T 17: 33,888,146 (GRCm39) C113Y probably damaging Het
Igkv4-71 T C 6: 69,220,399 (GRCm39) M11V probably benign Het
Insr G T 8: 3,308,715 (GRCm39) T107K probably damaging Het
Mdm4 G A 1: 132,919,947 (GRCm39) T306M probably damaging Het
Nek11 T C 9: 105,164,852 (GRCm39) I425V probably benign Het
Otop3 T A 11: 115,230,408 (GRCm39) V95E probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snx10 T A 6: 51,556,840 (GRCm39) M41K possibly damaging Het
Sos2 T A 12: 69,663,133 (GRCm39) N588Y probably damaging Het
Srrm3 C A 5: 135,898,152 (GRCm39) probably benign Het
Tbc1d19 G T 5: 54,040,997 (GRCm39) probably benign Het
Vmn2r68 T A 7: 84,871,448 (GRCm39) K612* probably null Het
Other mutations in Arpc5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Arpc5l APN 2 38,898,226 (GRCm39) missense probably damaging 1.00
IGL03011:Arpc5l APN 2 38,903,730 (GRCm39) unclassified probably benign
IGL03404:Arpc5l APN 2 38,903,895 (GRCm39) missense probably damaging 1.00
R1621:Arpc5l UTSW 2 38,903,913 (GRCm39) critical splice donor site probably null
R5400:Arpc5l UTSW 2 38,903,747 (GRCm39) missense probably benign 0.19
R5467:Arpc5l UTSW 2 38,903,751 (GRCm39) missense possibly damaging 0.50
R9387:Arpc5l UTSW 2 38,903,195 (GRCm39) missense probably benign 0.00
R9564:Arpc5l UTSW 2 38,905,124 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02