Incidental Mutation 'R1267:Actr1b'
ID 151181
Institutional Source Beutler Lab
Gene Symbol Actr1b
Ensembl Gene ENSMUSG00000037351
Gene Name ARP1 actin-related protein 1B, centractin beta
Synonyms 2310066K23Rik, Arp1b
MMRRC Submission 039334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R1267 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 36737195-36749051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36739185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 368 (S368F)
Ref Sequence ENSEMBL: ENSMUSP00000047326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043951] [ENSMUST00000159448] [ENSMUST00000160084]
AlphaFold Q8R5C5
Predicted Effect probably benign
Transcript: ENSMUST00000043951
AA Change: S368F

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: S368F

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: ENSMUST00000162684
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T A 6: 5,423,747 (GRCm39) V298E probably damaging Het
Ddx28 A G 8: 106,736,549 (GRCm39) V503A probably damaging Het
Dock1 T C 7: 134,348,165 (GRCm39) Y259H probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Nrbp1 A G 5: 31,407,934 (GRCm39) K459R probably benign Het
Pramel21 G A 4: 143,342,304 (GRCm39) G137E possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sntg2 G A 12: 30,295,127 (GRCm39) T280M probably benign Het
Stat5b C T 11: 100,689,419 (GRCm39) V227M probably benign Het
Taf4 A G 2: 179,571,117 (GRCm39) I732T possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thsd7b T A 1: 129,556,577 (GRCm39) probably null Het
Other mutations in Actr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02453:Actr1b APN 1 36,741,588 (GRCm39) missense probably damaging 0.99
IGL02555:Actr1b APN 1 36,740,828 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TCAGTTCCGATGCTCCAGCTTG -3'
(R):5'- GGCAGCCGTATGCTTATCCGATTC -3'

Sequencing Primer
(F):5'- AGCCAATCATTACTCTGTGTGTG -3'
(R):5'- AGATCTCTGCTCCTCAGGAAC -3'
Posted On 2014-01-29