Incidental Mutation 'R0399:Actr1a'
ID 38094
Institutional Source Beutler Lab
Gene Symbol Actr1a
Ensembl Gene ENSMUSG00000025228
Gene Name ARP1 actin-related protein 1A, centractin alpha
Synonyms
MMRRC Submission 038604-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R0399 (G1)
Quality Score 125
Status Validated
Chromosome 19
Chromosomal Location 46365252-46384180 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 46373450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040270]
AlphaFold P61164
Predicted Effect probably null
Transcript: ENSMUST00000040270
SMART Domains Protein: ENSMUSP00000039844
Gene: ENSMUSG00000025228

DomainStartEndE-ValueType
ACTIN 9 376 4.18e-203 SMART
Meta Mutation Damage Score 0.9590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030452D12Rik T C 8: 107,231,174 (GRCm39) M120T unknown Het
Anapc5 A T 5: 122,929,816 (GRCm39) V555D probably damaging Het
Aox1 A G 1: 58,108,008 (GRCm39) probably null Het
Arhgap30 A G 1: 171,232,384 (GRCm39) E343G probably damaging Het
Asap2 C T 12: 21,267,998 (GRCm39) T291I possibly damaging Het
Atp5f1a T A 18: 77,869,536 (GRCm39) Y439* probably null Het
Auts2 A T 5: 131,469,362 (GRCm39) S428T probably benign Het
B3gnt7 T A 1: 86,233,433 (GRCm39) C109* probably null Het
C4b C A 17: 34,947,843 (GRCm39) Q1657H probably damaging Het
Cadm2 A T 16: 66,544,225 (GRCm39) L268* probably null Het
Cep290 G A 10: 100,390,262 (GRCm39) probably benign Het
Cep68 T G 11: 20,180,571 (GRCm39) I687L probably benign Het
Chd6 T A 2: 160,894,608 (GRCm39) D84V probably damaging Het
Clpx A G 9: 65,230,051 (GRCm39) T514A probably benign Het
Cox18 A T 5: 90,362,887 (GRCm39) C324S probably benign Het
Cryzl2 T C 1: 157,289,586 (GRCm39) Y75H probably damaging Het
Cxcr6 C T 9: 123,640,016 (GRCm39) A339V possibly damaging Het
Dock1 T C 7: 134,765,171 (GRCm39) L1721P probably benign Het
Dstyk T C 1: 132,380,818 (GRCm39) probably benign Het
Ecpas T C 4: 58,827,047 (GRCm39) T1029A possibly damaging Het
Ehf A G 2: 103,097,215 (GRCm39) Y246H probably damaging Het
Epas1 T C 17: 87,112,621 (GRCm39) V73A probably benign Het
Filip1 A G 9: 79,725,592 (GRCm39) I1009T possibly damaging Het
Glis3 A T 19: 28,276,168 (GRCm39) probably benign Het
Gm17333 A T 16: 77,649,678 (GRCm39) noncoding transcript Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Gpr155 A T 2: 73,200,346 (GRCm39) I387N possibly damaging Het
Gria1 A G 11: 57,076,853 (GRCm39) D83G probably damaging Het
Grid2 A G 6: 64,643,036 (GRCm39) I933V probably benign Het
Hhatl C T 9: 121,617,828 (GRCm39) A254T probably benign Het
Hook2 A G 8: 85,720,196 (GRCm39) probably benign Het
Ift140 T A 17: 25,269,314 (GRCm39) S656R possibly damaging Het
Il11ra1 A T 4: 41,766,185 (GRCm39) T241S probably benign Het
Kank1 A G 19: 25,388,606 (GRCm39) I760V probably benign Het
Kansl1 T C 11: 104,314,958 (GRCm39) E360G possibly damaging Het
Klf9 A T 19: 23,119,446 (GRCm39) S110C probably damaging Het
Klhl31 A G 9: 77,557,935 (GRCm39) N217S probably benign Het
Lct T C 1: 128,228,262 (GRCm39) Y1077C probably damaging Het
Lrrc49 A T 9: 60,517,529 (GRCm39) probably benign Het
Lrrn1 T A 6: 107,546,081 (GRCm39) H626Q probably benign Het
Mmp28 A T 11: 83,342,558 (GRCm39) L40Q probably damaging Het
Mroh1 C T 15: 76,336,299 (GRCm39) A1530V probably benign Het
Myo1e A G 9: 70,209,075 (GRCm39) probably benign Het
Naa25 A T 5: 121,573,553 (GRCm39) M761L probably benign Het
Ncln G A 10: 81,324,131 (GRCm39) A465V probably damaging Het
Nktr A G 9: 121,560,550 (GRCm39) N98S probably damaging Het
Or52h9 T A 7: 104,202,576 (GRCm39) V150E probably benign Het
Or5a1 G C 19: 12,097,734 (GRCm39) A114G possibly damaging Het
Or6d15 C A 6: 116,559,742 (GRCm39) S55I probably benign Het
Or8b4 G T 9: 37,830,849 (GRCm39) A304S possibly damaging Het
Or9g3 T C 2: 85,590,248 (GRCm39) I157M possibly damaging Het
Pacsin2 T C 15: 83,270,983 (GRCm39) Y222C probably damaging Het
Pcdhb15 C T 18: 37,607,221 (GRCm39) T151M possibly damaging Het
Plcz1 C A 6: 139,968,956 (GRCm39) V161L possibly damaging Het
Ppp6c G A 2: 39,090,136 (GRCm39) probably benign Het
Relch A G 1: 105,678,684 (GRCm39) probably benign Het
Rhbdf2 T A 11: 116,494,818 (GRCm39) Y286F probably benign Het
Rtn3 A T 19: 7,435,241 (GRCm39) D231E probably damaging Het
Slc35c2 A C 2: 165,122,815 (GRCm39) Y156* probably null Het
Spata46 A G 1: 170,139,106 (GRCm39) D35G probably damaging Het
Tmed3 A G 9: 89,584,926 (GRCm39) F110L possibly damaging Het
Tmem104 T G 11: 115,092,134 (GRCm39) probably benign Het
Tpbg T A 9: 85,726,991 (GRCm39) V320E possibly damaging Het
Trib2 T C 12: 15,843,664 (GRCm39) D190G probably damaging Het
Tspan2 A G 3: 102,666,701 (GRCm39) T26A probably damaging Het
Usp17lb A C 7: 104,490,358 (GRCm39) Y190D possibly damaging Het
Utp18 C T 11: 93,770,973 (GRCm39) probably benign Het
Utp20 A T 10: 88,656,841 (GRCm39) D121E probably damaging Het
Vmn1r80 T A 7: 11,927,244 (GRCm39) M118K possibly damaging Het
Vmn1r84 T C 7: 12,095,794 (GRCm39) S300G probably benign Het
Other mutations in Actr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4431001:Actr1a UTSW 19 46,370,731 (GRCm39) critical splice donor site probably null
R1861:Actr1a UTSW 19 46,372,714 (GRCm39) missense probably damaging 1.00
R1953:Actr1a UTSW 19 46,369,387 (GRCm39) missense probably benign 0.00
R5396:Actr1a UTSW 19 46,384,103 (GRCm39) missense possibly damaging 0.47
R5694:Actr1a UTSW 19 46,384,157 (GRCm39) unclassified probably benign
R7396:Actr1a UTSW 19 46,368,068 (GRCm39) missense probably benign 0.03
R7749:Actr1a UTSW 19 46,368,186 (GRCm39) missense probably benign 0.03
R8765:Actr1a UTSW 19 46,372,787 (GRCm39) splice site probably benign
R8772:Actr1a UTSW 19 46,370,731 (GRCm39) critical splice donor site probably null
R8943:Actr1a UTSW 19 46,369,438 (GRCm39) missense possibly damaging 0.70
X0063:Actr1a UTSW 19 46,372,708 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATAGGCCAGATTGGATTTCCCC -3'
(R):5'- TCCGCTCAGAGACAAGCACAGTAG -3'

Sequencing Primer
(F):5'- TCTAATGACTGCAAGACAGCG -3'
(R):5'- CACAGTAGAACGAGGGGACAC -3'
Posted On 2013-05-23