Incidental Mutation 'R3924:Arpin'
ID307089
Institutional Source Beutler Lab
Gene Symbol Arpin
Ensembl Gene ENSMUSG00000039043
Gene Nameactin-related protein 2/3 complex inhibitor
Synonyms2610034B18Rik
MMRRC Submission 040915-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3924 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location79925361-79935359 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79929687 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 63 (Y63H)
Ref Sequence ENSEMBL: ENSMUSP00000049440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048731]
Predicted Effect probably benign
Transcript: ENSMUST00000048731
AA Change: Y63H

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: Y63H

DomainStartEndE-ValueType
Pfam:UPF0552 1 224 4e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206403
Meta Mutation Damage Score 0.1433 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik G T 9: 53,432,405 V119F probably benign Het
Agtpbp1 A T 13: 59,500,407 V533D probably benign Het
Ahnak G A 19: 9,006,328 D1659N probably benign Het
Aldh3b3 A G 19: 3,968,491 N402S probably damaging Het
Amn T C 12: 111,275,680 V367A possibly damaging Het
Brinp2 A G 1: 158,246,208 L781P probably damaging Het
Cdkl1 G T 12: 69,756,599 R168S probably damaging Het
Cfap43 T C 19: 47,797,116 K445R probably benign Het
Csad T C 15: 102,178,556 S427G probably benign Het
Dach1 A G 14: 97,915,903 V443A probably damaging Het
Dlat A G 9: 50,658,190 S160P possibly damaging Het
Dpf1 A G 7: 29,311,673 R165G possibly damaging Het
Dtd2 G C 12: 52,004,951 probably null Het
Fa2h A G 8: 111,393,515 Y80H probably damaging Het
Flii A G 11: 60,720,076 F509S probably damaging Het
Fmo9 A G 1: 166,664,652 S350P probably benign Het
Gabra4 A G 5: 71,642,253 probably benign Het
Gm3604 A G 13: 62,370,230 S105P probably damaging Het
Gpr155 T A 2: 73,370,076 L362F probably damaging Het
Lmbrd2 T C 15: 9,149,537 V86A probably benign Het
Lpcat4 G T 2: 112,246,716 Q468H possibly damaging Het
Luzp1 T C 4: 136,542,857 I797T probably damaging Het
Myh8 A T 11: 67,297,137 I912F probably damaging Het
Notch2 G T 3: 98,122,034 G1038* probably null Het
Nptx1 G T 11: 119,547,507 T28N possibly damaging Het
Olfr1501 T C 19: 13,838,766 T136A probably damaging Het
Onecut2 A G 18: 64,341,520 K381E probably damaging Het
Plekha5 A G 6: 140,570,379 N317S possibly damaging Het
Polr1a A G 6: 71,929,450 M417V probably benign Het
Ptpn13 T C 5: 103,550,741 probably benign Het
Qrfpr T C 3: 36,221,923 N106S possibly damaging Het
Rasd2 A G 8: 75,221,974 N176S probably damaging Het
Rsbn1l A G 5: 20,919,787 V339A probably damaging Het
Ryr3 A G 2: 113,028,703 probably benign Het
Shkbp1 A G 7: 27,342,402 W676R probably benign Het
Sipa1 G A 19: 5,660,379 T201I probably benign Het
Slc35g2 A T 9: 100,552,727 I297N probably benign Het
Usp28 T C 9: 49,030,923 probably null Het
Zfp946 G T 17: 22,455,701 G479C probably benign Het
Other mutations in Arpin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Arpin APN 7 79927675 missense probably benign 0.00
IGL01393:Arpin APN 7 79931840 missense possibly damaging 0.51
IGL02127:Arpin APN 7 79928193 missense probably benign 0.01
IGL02553:Arpin APN 7 79927647 missense possibly damaging 0.71
R2350:Arpin UTSW 7 79931805 nonsense probably null
R3821:Arpin UTSW 7 79929660 missense probably damaging 1.00
R5287:Arpin UTSW 7 79928249 missense probably damaging 1.00
R6353:Arpin UTSW 7 79935345 start gained probably benign
R7871:Arpin UTSW 7 79927715 missense probably damaging 1.00
R8211:Arpin UTSW 7 79935244 start codon destroyed probably damaging 1.00
R8367:Arpin UTSW 7 79929638 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATCCACTGTCAAGGACCTCAG -3'
(R):5'- GTATTTAAACGAGGCATCTGTCCAG -3'

Sequencing Primer
(F):5'- CTGTCAAGGACCTCAGGAGAC -3'
(R):5'- ATCTGTCCAGCCTATGCAGCAG -3'
Posted On2015-04-17