Incidental Mutation 'IGL03202:Actr10'
ID 413011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr10
Ensembl Gene ENSMUSG00000021076
Gene Name ARP10 actin-related protein 10
Synonyms Arp11
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL03202
Quality Score
Status
Chromosome 12
Chromosomal Location 70984631-71011492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70987605 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9QZB7
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: 86,909,911 (GRCm39) M1T probably null Het
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Crybg3 T A 16: 59,315,072 (GRCm39) I2910F probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Itpa T A 2: 130,509,859 (GRCm39) probably benign Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lin54 A G 5: 100,623,673 (GRCm39) S55P possibly damaging Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Pcnx2 A C 8: 126,498,783 (GRCm39) I1572S probably damaging Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Pygl G T 12: 70,246,420 (GRCm39) Q376K probably benign Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Rrp12 T C 19: 41,857,205 (GRCm39) probably null Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A probably benign Het
Other mutations in Actr10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02084:Actr10 APN 12 71,001,423 (GRCm39) missense probably damaging 1.00
IGL02232:Actr10 APN 12 70,990,289 (GRCm39) missense probably benign 0.05
IGL02628:Actr10 APN 12 71,001,430 (GRCm39) critical splice donor site probably null
IGL03266:Actr10 APN 12 71,003,440 (GRCm39) missense probably benign 0.00
R0505:Actr10 UTSW 12 71,006,738 (GRCm39) missense probably damaging 1.00
R1734:Actr10 UTSW 12 71,008,770 (GRCm39) missense probably benign 0.23
R1919:Actr10 UTSW 12 70,989,104 (GRCm39) missense probably benign 0.00
R2151:Actr10 UTSW 12 70,987,575 (GRCm39) nonsense probably null
R2201:Actr10 UTSW 12 71,006,795 (GRCm39) missense probably damaging 0.97
R4259:Actr10 UTSW 12 70,999,759 (GRCm39) missense probably benign 0.02
R4261:Actr10 UTSW 12 70,999,759 (GRCm39) missense probably benign 0.02
R5138:Actr10 UTSW 12 71,008,653 (GRCm39) missense probably damaging 1.00
R5326:Actr10 UTSW 12 71,001,430 (GRCm39) unclassified probably benign
R5542:Actr10 UTSW 12 71,001,430 (GRCm39) unclassified probably benign
R6248:Actr10 UTSW 12 70,999,733 (GRCm39) missense probably benign 0.00
R6882:Actr10 UTSW 12 71,003,125 (GRCm39) missense probably benign 0.00
R7102:Actr10 UTSW 12 70,999,805 (GRCm39) critical splice donor site probably null
R7758:Actr10 UTSW 12 70,989,100 (GRCm39) missense probably damaging 1.00
R7800:Actr10 UTSW 12 70,990,283 (GRCm39) missense probably benign 0.26
R8766:Actr10 UTSW 12 71,001,430 (GRCm39) critical splice donor site probably null
R8850:Actr10 UTSW 12 70,989,032 (GRCm39) critical splice acceptor site probably null
R9011:Actr10 UTSW 12 70,999,734 (GRCm39) missense probably benign 0.01
R9068:Actr10 UTSW 12 70,989,073 (GRCm39) missense probably damaging 1.00
R9229:Actr10 UTSW 12 70,990,259 (GRCm39) missense probably damaging 1.00
R9452:Actr10 UTSW 12 71,006,818 (GRCm39) critical splice donor site probably null
X0012:Actr10 UTSW 12 70,987,639 (GRCm39) missense probably benign 0.04
X0027:Actr10 UTSW 12 71,006,733 (GRCm39) missense possibly damaging 0.94
Z1176:Actr10 UTSW 12 71,008,803 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02