Incidental Mutation 'IGL03202:Actr10'
ID413011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr10
Ensembl Gene ENSMUSG00000021076
Gene NameARP10 actin-related protein 10
SynonymsArp11
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL03202
Quality Score
Status
Chromosome12
Chromosomal Location70937857-70964718 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 70940831 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tryptophan at position 37 (C37W)
Ref Sequence ENSEMBL: ENSMUSP00000021479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021479] [ENSMUST00000220582] [ENSMUST00000223549]
Predicted Effect probably damaging
Transcript: ENSMUST00000021479
AA Change: C37W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021479
Gene: ENSMUSG00000021076
AA Change: C37W

DomainStartEndE-ValueType
ACTIN 13 394 3e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222291
Predicted Effect probably benign
Transcript: ENSMUST00000223549
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,074,047 M1T probably null Het
2810474O19Rik G A 6: 149,326,439 V328I probably benign Het
Ace T A 11: 105,976,962 I168N probably damaging Het
Atp10b T C 11: 43,234,441 probably null Het
Bend5 A G 4: 111,433,244 N146D possibly damaging Het
Cacna1b A G 2: 24,651,112 F1347L probably damaging Het
Crybg3 T A 16: 59,494,709 I2910F probably damaging Het
Cspg4 T C 9: 56,897,739 S1945P possibly damaging Het
Cxcr4 T G 1: 128,588,904 K340T probably damaging Het
Dnah6 T A 6: 73,144,700 Y1433F probably damaging Het
Eif2ak4 T C 2: 118,400,620 V77A probably damaging Het
Fscn3 A T 6: 28,434,452 H342L probably benign Het
Gm884 T A 11: 103,615,373 E1923V probably benign Het
Gm9843 T C 16: 76,403,346 noncoding transcript Het
Hdac9 T C 12: 34,373,951 E520G probably damaging Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Itpa T A 2: 130,667,939 probably benign Het
Lce1l A T 3: 92,850,324 C76S unknown Het
Lin54 A G 5: 100,475,814 S55P possibly damaging Het
Mtfmt C A 9: 65,448,726 P303Q probably damaging Het
Nae1 A T 8: 104,518,179 probably benign Het
Ncapd3 T A 9: 27,071,715 probably benign Het
Olfr381 G A 11: 73,486,525 Q100* probably null Het
Olfr525 A G 7: 140,323,106 M136V possibly damaging Het
Pcnx2 A C 8: 125,772,044 I1572S probably damaging Het
Piezo2 A T 18: 63,011,598 Y2809N probably damaging Het
Pygl G T 12: 70,199,646 Q376K probably benign Het
Rrp12 T C 19: 41,868,766 probably null Het
Sephs1 A T 2: 4,889,263 I92F possibly damaging Het
Taar4 T C 10: 23,960,794 F101L probably damaging Het
Tenm2 A G 11: 36,024,548 I2053T probably damaging Het
Tgfbr3 T G 5: 107,109,764 probably benign Het
Vmn2r108 A T 17: 20,471,057 Y401* probably null Het
Vmn2r87 A G 10: 130,497,222 M53T probably benign Het
Zfp941 A G 7: 140,813,053 V131A probably benign Het
Other mutations in Actr10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02084:Actr10 APN 12 70954649 missense probably damaging 1.00
IGL02232:Actr10 APN 12 70943515 missense probably benign 0.05
IGL02628:Actr10 APN 12 70954656 critical splice donor site probably null
IGL03266:Actr10 APN 12 70956666 missense probably benign 0.00
R0505:Actr10 UTSW 12 70959964 missense probably damaging 1.00
R1734:Actr10 UTSW 12 70961996 missense probably benign 0.23
R1919:Actr10 UTSW 12 70942330 missense probably benign 0.00
R2151:Actr10 UTSW 12 70940801 nonsense probably null
R2201:Actr10 UTSW 12 70960021 missense probably damaging 0.97
R4259:Actr10 UTSW 12 70952985 missense probably benign 0.02
R4261:Actr10 UTSW 12 70952985 missense probably benign 0.02
R5138:Actr10 UTSW 12 70961879 missense probably damaging 1.00
R5326:Actr10 UTSW 12 70954656 unclassified probably benign
R5542:Actr10 UTSW 12 70954656 unclassified probably benign
R6248:Actr10 UTSW 12 70952959 missense probably benign 0.00
R6882:Actr10 UTSW 12 70956351 missense probably benign 0.00
R7102:Actr10 UTSW 12 70953031 critical splice donor site probably null
X0012:Actr10 UTSW 12 70940865 missense probably benign 0.04
X0027:Actr10 UTSW 12 70959959 missense possibly damaging 0.94
Posted On2016-08-02