Incidental Mutation 'IGL02684:Actrt3'
ID 303476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actrt3
Ensembl Gene ENSMUSG00000037737
Gene Name actin related protein T3
Synonyms Arpm1, 1700119I24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02684
Quality Score
Status
Chromosome 3
Chromosomal Location 30651221-30654021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30653840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 53 (D53E)
Ref Sequence ENSEMBL: ENSMUSP00000048360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000047630] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]
AlphaFold Q8BXF8
Predicted Effect probably benign
Transcript: ENSMUST00000047502
SMART Domains Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047630
AA Change: D53E

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048360
Gene: ENSMUSG00000037737
AA Change: D53E

DomainStartEndE-ValueType
ACTIN 5 369 3.33e-147 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083427
Predicted Effect probably benign
Transcript: ENSMUST00000192715
SMART Domains Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194587
Predicted Effect probably benign
Transcript: ENSMUST00000195396
SMART Domains Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195751
SMART Domains Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,532,020 (GRCm39) L185* probably null Het
Aadacl4fm5 A G 4: 144,504,755 (GRCm39) probably benign Het
Ankrd34b T C 13: 92,575,016 (GRCm39) S83P probably damaging Het
Asap1 A G 15: 63,966,018 (GRCm39) V1029A probably benign Het
Blk T C 14: 63,617,143 (GRCm39) E288G probably benign Het
Cep192 T G 18: 67,967,634 (GRCm39) V706G probably damaging Het
Chd2 T C 7: 73,125,097 (GRCm39) K908E probably damaging Het
Dnm1l A T 16: 16,139,521 (GRCm39) I391N possibly damaging Het
Fmn1 A G 2: 113,355,622 (GRCm39) R688G unknown Het
Gdap2 A G 3: 100,078,336 (GRCm39) D100G probably benign Het
Gm43638 T C 5: 87,610,769 (GRCm39) I522V possibly damaging Het
Gsap A T 5: 21,447,801 (GRCm39) probably null Het
Hoxd12 A G 2: 74,505,905 (GRCm39) S159G probably benign Het
Ints7 A G 1: 191,345,749 (GRCm39) probably null Het
Iqsec3 G A 6: 121,389,900 (GRCm39) Q524* probably null Het
Klra10 T A 6: 130,258,845 (GRCm39) H14L possibly damaging Het
Lratd1 T C 12: 14,200,646 (GRCm39) D27G probably damaging Het
Mettl15 T C 2: 108,961,925 (GRCm39) E228G probably damaging Het
Or51v8 T C 7: 103,319,591 (GRCm39) M216V probably benign Het
Or9s18 G A 13: 65,300,210 (GRCm39) M57I probably damaging Het
Pabpc1l A G 2: 163,873,197 (GRCm39) N156D probably benign Het
Pkhd1l1 G T 15: 44,379,605 (GRCm39) probably null Het
Pm20d1 T A 1: 131,732,697 (GRCm39) N345K probably benign Het
Rasgrp1 A G 2: 117,113,057 (GRCm39) V785A probably benign Het
Sos2 A G 12: 69,643,440 (GRCm39) L980S probably damaging Het
Stam2 A T 2: 52,609,947 (GRCm39) H56Q probably damaging Het
Trpm6 T A 19: 18,779,571 (GRCm39) probably benign Het
Trpm7 A T 2: 126,688,079 (GRCm39) D249E probably damaging Het
Vmn1r203 A T 13: 22,708,539 (GRCm39) T107S possibly damaging Het
Vmn2r55 A G 7: 12,404,887 (GRCm39) L172P probably damaging Het
Vrtn A G 12: 84,696,923 (GRCm39) R558G probably benign Het
Zfp977 A T 7: 42,232,439 (GRCm39) D7E probably damaging Het
Other mutations in Actrt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Actrt3 APN 3 30,652,188 (GRCm39) missense probably damaging 0.99
IGL01783:Actrt3 APN 3 30,652,624 (GRCm39) missense probably benign 0.33
R0017:Actrt3 UTSW 3 30,652,422 (GRCm39) missense probably benign 0.00
R0410:Actrt3 UTSW 3 30,652,273 (GRCm39) missense probably benign
R0574:Actrt3 UTSW 3 30,653,829 (GRCm39) missense probably benign 0.21
R1710:Actrt3 UTSW 3 30,653,901 (GRCm39) missense probably damaging 1.00
R1907:Actrt3 UTSW 3 30,652,716 (GRCm39) missense probably damaging 1.00
R2338:Actrt3 UTSW 3 30,651,985 (GRCm39) makesense probably null
R2870:Actrt3 UTSW 3 30,653,847 (GRCm39) missense probably damaging 1.00
R2870:Actrt3 UTSW 3 30,653,847 (GRCm39) missense probably damaging 1.00
R4913:Actrt3 UTSW 3 30,652,588 (GRCm39) missense probably benign
R5683:Actrt3 UTSW 3 30,652,427 (GRCm39) missense probably benign
R5719:Actrt3 UTSW 3 30,652,276 (GRCm39) missense probably benign 0.40
R5942:Actrt3 UTSW 3 30,652,813 (GRCm39) missense possibly damaging 0.50
R6153:Actrt3 UTSW 3 30,653,899 (GRCm39) missense probably damaging 1.00
R6177:Actrt3 UTSW 3 30,652,316 (GRCm39) nonsense probably null
R6741:Actrt3 UTSW 3 30,652,663 (GRCm39) missense possibly damaging 0.85
R7584:Actrt3 UTSW 3 30,652,356 (GRCm39) missense probably benign 0.06
R7603:Actrt3 UTSW 3 30,652,696 (GRCm39) missense probably benign
R8166:Actrt3 UTSW 3 30,652,674 (GRCm39) missense probably damaging 1.00
R8381:Actrt3 UTSW 3 30,651,985 (GRCm39) makesense probably null
R8768:Actrt3 UTSW 3 30,651,992 (GRCm39) missense probably damaging 1.00
R9091:Actrt3 UTSW 3 30,652,781 (GRCm39) missense probably damaging 1.00
R9270:Actrt3 UTSW 3 30,652,781 (GRCm39) missense probably damaging 1.00
R9331:Actrt3 UTSW 3 30,652,050 (GRCm39) missense probably damaging 1.00
R9742:Actrt3 UTSW 3 30,652,434 (GRCm39) missense probably damaging 1.00
R9780:Actrt3 UTSW 3 30,652,876 (GRCm39) missense probably damaging 0.99
Z1177:Actrt3 UTSW 3 30,652,152 (GRCm39) missense possibly damaging 0.50
Posted On 2015-04-16