Incidental Mutation 'IGL02555:Actr1b'
ID 298473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr1b
Ensembl Gene ENSMUSG00000037351
Gene Name ARP1 actin-related protein 1B, centractin beta
Synonyms 2310066K23Rik, Arp1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # IGL02555
Quality Score
Status
Chromosome 1
Chromosomal Location 36737195-36749051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36740828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 199 (R199C)
Ref Sequence ENSEMBL: ENSMUSP00000047326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043951] [ENSMUST00000159448] [ENSMUST00000160084]
AlphaFold Q8R5C5
Predicted Effect probably damaging
Transcript: ENSMUST00000043951
AA Change: R199C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: R199C

DomainStartEndE-ValueType
ACTIN 9 376 9.61e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159448
SMART Domains Protein: ENSMUSP00000124343
Gene: ENSMUSG00000037351

DomainStartEndE-ValueType
ACTIN 2 149 1.29e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160043
Predicted Effect probably benign
Transcript: ENSMUST00000160084
SMART Domains Protein: ENSMUSP00000125472
Gene: ENSMUSG00000037351

DomainStartEndE-ValueType
Pfam:Actin 2 142 2.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162684
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and 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, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,305 (GRCm39) C640S probably damaging Het
Adam9 T C 8: 25,456,752 (GRCm39) N661D probably damaging Het
Amy1 C T 3: 113,358,541 (GRCm39) E164K probably benign Het
Arid5b A C 10: 67,937,734 (GRCm39) D221E probably benign Het
B3galt1 G T 2: 67,948,905 (GRCm39) V207F probably benign Het
Begain A G 12: 109,000,115 (GRCm39) S219P probably damaging Het
Clip1 A G 5: 123,759,857 (GRCm39) probably null Het
Cps1 A G 1: 67,253,180 (GRCm39) K1224R probably benign Het
Dnm1 A G 2: 32,218,050 (GRCm39) Y449H probably damaging Het
Epas1 A T 17: 87,136,492 (GRCm39) M755L probably benign Het
F13b T C 1: 139,444,924 (GRCm39) C525R probably damaging Het
Fmnl2 A G 2: 53,016,863 (GRCm39) probably null Het
Ighv5-15 A G 12: 113,790,735 (GRCm39) F3L probably benign Het
Inpp4a A G 1: 37,419,049 (GRCm39) Q538R possibly damaging Het
Insrr A T 3: 87,721,124 (GRCm39) M1092L probably damaging Het
Itgb8 C T 12: 119,153,616 (GRCm39) V300M probably damaging Het
Kcnk5 A T 14: 20,192,053 (GRCm39) H369Q probably benign Het
Ly6m G T 15: 74,753,457 (GRCm39) probably benign Het
Or1m1 T A 9: 18,666,769 (GRCm39) H54L probably benign Het
Or4a76 G A 2: 89,460,547 (GRCm39) R232C probably damaging Het
Or4k44 A G 2: 111,368,262 (GRCm39) V124A probably damaging Het
Or5m10 G A 2: 85,717,742 (GRCm39) M199I probably benign Het
Plxdc2 A G 2: 16,734,152 (GRCm39) I417M probably benign Het
Polr1a G A 6: 71,897,441 (GRCm39) E186K probably damaging Het
Ppp3cb A T 14: 20,581,021 (GRCm39) F134L probably damaging Het
Prox2 C T 12: 85,142,034 (GRCm39) W56* probably null Het
Scaf4 C T 16: 90,047,193 (GRCm39) A395T unknown Het
Sh3tc2 G T 18: 62,123,308 (GRCm39) A690S probably damaging Het
Slc34a1 T C 13: 55,548,981 (GRCm39) S144P possibly damaging Het
Slc6a6 C T 6: 91,725,311 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,689,595 (GRCm39) M557K probably benign Het
Vmn2r103 A T 17: 20,031,873 (GRCm39) D549V probably damaging Het
Washc2 T A 6: 116,186,061 (GRCm39) N90K probably damaging Het
Other mutations in Actr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02453:Actr1b APN 1 36,741,588 (GRCm39) missense probably damaging 0.99
R1267:Actr1b UTSW 1 36,739,185 (GRCm39) missense probably benign 0.11
R2064:Actr1b UTSW 1 36,741,168 (GRCm39) missense possibly damaging 0.83
R2231:Actr1b UTSW 1 36,739,440 (GRCm39) missense probably damaging 1.00
R4243:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R4244:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R4245:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R5256:Actr1b UTSW 1 36,739,173 (GRCm39) missense probably benign 0.31
R5973:Actr1b UTSW 1 36,741,162 (GRCm39) missense probably damaging 1.00
R6267:Actr1b UTSW 1 36,740,244 (GRCm39) missense possibly damaging 0.63
R7213:Actr1b UTSW 1 36,741,221 (GRCm39) missense probably damaging 1.00
R7473:Actr1b UTSW 1 36,748,900 (GRCm39) missense probably benign 0.01
R8762:Actr1b UTSW 1 36,748,909 (GRCm39) missense probably benign 0.03
R8768:Actr1b UTSW 1 36,740,588 (GRCm39) missense probably benign 0.21
R9051:Actr1b UTSW 1 36,740,534 (GRCm39) missense probably benign 0.00
R9334:Actr1b UTSW 1 36,739,251 (GRCm39) missense probably damaging 1.00
R9372:Actr1b UTSW 1 36,741,561 (GRCm39) missense probably damaging 0.98
R9765:Actr1b UTSW 1 36,741,677 (GRCm39) missense probably benign 0.07
Z1176:Actr1b UTSW 1 36,740,289 (GRCm39) missense probably benign
Posted On 2015-04-16