Incidental Mutation 'R5694:Actr1a'
ID 443849
Institutional Source Beutler Lab
Gene Symbol Actr1a
Ensembl Gene ENSMUSG00000025228
Gene Name ARP1 actin-related protein 1A, centractin alpha
Synonyms
MMRRC Submission 043325-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R5694 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 46365252-46384180 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 46384157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039922] [ENSMUST00000040270] [ENSMUST00000111867] [ENSMUST00000118440] [ENSMUST00000120778]
AlphaFold P61164
Predicted Effect probably benign
Transcript: ENSMUST00000039922
SMART Domains Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 63 242 2.9e-38 PFAM
Pfam:SUFU_C 252 473 1.6e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040270
SMART Domains Protein: ENSMUSP00000039844
Gene: ENSMUSG00000025228

DomainStartEndE-ValueType
ACTIN 9 376 4.18e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111867
SMART Domains Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 64 241 4.9e-54 PFAM
Pfam:SUFU_C 254 474 2.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118440
SMART Domains Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 63 242 3.2e-38 PFAM
Pfam:SUFU_C 252 436 9.8e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120778
SMART Domains Protein: ENSMUSP00000112653
Gene: ENSMUSG00000025231

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SUFU 59 197 4.8e-30 PFAM
Pfam:SUFU_C 208 297 2e-29 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,546,673 (GRCm39) I1353N probably damaging Het
Adamts14 A T 10: 61,065,431 (GRCm39) M356K probably benign Het
Adamtsl2 A G 2: 26,971,736 (GRCm39) H7R probably benign Het
Angptl2 T C 2: 33,118,628 (GRCm39) V134A probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Astn2 T C 4: 65,868,375 (GRCm39) D488G probably damaging Het
Cat A T 2: 103,303,339 (GRCm39) V146E probably damaging Het
Dmxl1 T C 18: 50,027,324 (GRCm39) V2144A probably damaging Het
Efcab5 T G 11: 77,079,701 (GRCm39) D15A probably benign Het
Epha10 C T 4: 124,796,446 (GRCm39) A385V unknown Het
Erg C A 16: 95,161,890 (GRCm39) E388D probably benign Het
Fbxo10 T A 4: 45,035,970 (GRCm39) I931F probably damaging Het
Frem1 A G 4: 82,912,353 (GRCm39) L673P probably damaging Het
Gm4922 A C 10: 18,660,035 (GRCm39) I229S possibly damaging Het
Gnptab T A 10: 88,250,348 (GRCm39) D153E probably benign Het
Htr7 T C 19: 36,034,521 (GRCm39) M45V probably benign Het
Hycc1 C A 5: 24,196,794 (GRCm39) L31F probably damaging Het
Igkv4-51 C T 6: 69,658,911 (GRCm39) V5M probably damaging Het
Ints7 G A 1: 191,318,730 (GRCm39) E156K probably damaging Het
Map3k21 A G 8: 126,671,507 (GRCm39) T932A probably benign Het
Mapk1 T G 16: 16,836,333 (GRCm39) D160E probably benign Het
Mast4 A T 13: 102,910,701 (GRCm39) Y479* probably null Het
Meig1 T A 2: 3,412,999 (GRCm39) K7N probably damaging Het
Mthfd1l T A 10: 3,985,239 (GRCm39) D548E possibly damaging Het
Myo16 A G 8: 10,619,606 (GRCm39) R1386G probably benign Het
Nphs2 T C 1: 156,153,607 (GRCm39) S353P probably benign Het
Or12j4 T C 7: 140,046,644 (GRCm39) F177L probably benign Het
Or8b1 T A 9: 38,399,532 (GRCm39) I69K probably damaging Het
Pcdha9 G T 18: 37,131,425 (GRCm39) V165L probably benign Het
Pde3a T A 6: 141,196,228 (GRCm39) S305T possibly damaging Het
Phf14 C A 6: 11,990,124 (GRCm39) L718I possibly damaging Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Rab44 T A 17: 29,364,940 (GRCm39) M645K unknown Het
Rab44 T C 17: 29,359,474 (GRCm39) L554P probably damaging Het
Rnf222 A G 11: 68,783,723 (GRCm39) T97A probably benign Het
Rnpepl1 T C 1: 92,846,663 (GRCm39) S522P probably benign Het
Serinc5 A G 13: 92,825,302 (GRCm39) I244V probably benign Het
Serpinb10 A T 1: 107,463,187 (GRCm39) probably null Het
Siglech T A 7: 55,418,404 (GRCm39) F124Y probably damaging Het
Smarcc2 A T 10: 128,319,996 (GRCm39) I790L probably benign Het
Sos2 C A 12: 69,637,689 (GRCm39) R1007S probably damaging Het
Stk4 C T 2: 163,942,484 (GRCm39) T372M possibly damaging Het
Tbc1d10c A T 19: 4,234,963 (GRCm39) L366H probably damaging Het
Tor4a T C 2: 25,084,932 (GRCm39) T324A probably benign Het
Trim12a C A 7: 103,956,450 (GRCm39) C30F probably damaging Het
Ttll3 G A 6: 113,376,669 (GRCm39) V350M probably damaging Het
Uggt1 A T 1: 36,218,737 (GRCm39) D63E probably damaging Het
Unc5b G A 10: 60,609,526 (GRCm39) T590I probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls A C 3: 159,545,624 (GRCm39) I16L probably benign Het
Zfp101 T C 17: 33,599,919 (GRCm39) I612M probably benign Het
Zfp677 C A 17: 21,618,021 (GRCm39) D359E probably damaging Het
Other mutations in Actr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4431001:Actr1a UTSW 19 46,370,731 (GRCm39) critical splice donor site probably null
R0399:Actr1a UTSW 19 46,373,450 (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
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
Posted On 2016-11-09