Incidental Mutation 'R4245:Actr1b'
ID 320364
Institutional Source Beutler Lab
Gene Symbol Actr1b
Ensembl Gene ENSMUSG00000037351
Gene Name ARP1 actin-related protein 1B, centractin beta
Synonyms 2310066K23Rik, Arp1b
MMRRC Submission 041061-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R4245 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36737195-36749051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36740911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 171 (Y171C)
Ref Sequence ENSEMBL: ENSMUSP00000047326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043951] [ENSMUST00000159448] [ENSMUST00000160084]
AlphaFold Q8R5C5
Predicted Effect possibly damaging
Transcript: ENSMUST00000043951
AA Change: Y171C

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: Y171C

DomainStartEndE-ValueType
ACTIN 9 376 9.61e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159448
AA Change: Y127C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124343
Gene: ENSMUSG00000037351
AA Change: Y127C

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
AA Change: Y127C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125472
Gene: ENSMUSG00000037351
AA Change: Y127C

DomainStartEndE-ValueType
Pfam:Actin 2 142 2.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162684
Meta Mutation Damage Score 0.9054 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (47/48)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,733,203 (GRCm39) noncoding transcript Het
Acacb A T 5: 114,368,845 (GRCm39) T1688S probably damaging Het
C8a A G 4: 104,733,543 (GRCm39) V4A probably benign Het
Ccdc171 A G 4: 83,473,045 (GRCm39) D158G probably damaging Het
Ccdc184 T A 15: 98,066,750 (GRCm39) probably null Het
Cdc23 T C 18: 34,770,100 (GRCm39) probably benign Het
Dnah5 A G 15: 28,219,335 (GRCm39) N51S probably benign Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Eepd1 T C 9: 25,505,920 (GRCm39) I460T probably benign Het
Fen1 T A 19: 10,177,731 (GRCm39) I238F probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm5493 A G 17: 22,966,199 (GRCm39) E28G probably benign Het
Jakmip2 A G 18: 43,710,501 (GRCm39) V234A probably benign Het
Map3k6 T C 4: 132,979,258 (GRCm39) Y1204H possibly damaging Het
Mpeg1 C A 19: 12,440,272 (GRCm39) Q577K probably damaging Het
Mthfd1 T C 12: 76,348,047 (GRCm39) S564P probably damaging Het
Mtmr11 T A 3: 96,075,393 (GRCm39) C358S probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Myo18b G A 5: 112,840,261 (GRCm39) H2511Y possibly damaging Het
Ndufs6 A T 13: 73,468,512 (GRCm39) D62E probably damaging Het
Or5af2 T C 11: 58,708,604 (GRCm39) Y257H probably damaging Het
Or7e178 T C 9: 20,225,629 (GRCm39) I196V possibly damaging Het
Pcdhga1 T A 18: 37,796,605 (GRCm39) D536E probably damaging Het
Phactr3 G A 2: 177,924,982 (GRCm39) probably null Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk2 C T 15: 73,103,825 (GRCm39) G749D probably benign Het
Rab3il1 A T 19: 10,007,518 (GRCm39) D222V probably damaging Het
Radil T C 5: 142,529,546 (GRCm39) D50G probably damaging Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Scn7a T C 2: 66,572,345 (GRCm39) I209V probably benign Het
Sf3a1 C T 11: 4,117,774 (GRCm39) R179C probably damaging Het
Spata31e2 T C 1: 26,721,161 (GRCm39) N1340D probably benign Het
Styxl2 T C 1: 165,928,685 (GRCm39) E309G probably damaging Het
Tg T C 15: 66,568,318 (GRCm39) V1335A possibly damaging Het
Thnsl1 A G 2: 21,217,059 (GRCm39) E271G probably benign Het
Vill T A 9: 118,900,359 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,624 (GRCm39) D341G possibly damaging Het
Wdr59 T C 8: 112,216,996 (GRCm39) N272D possibly damaging Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zfp985 A G 4: 147,667,396 (GRCm39) K88R probably damaging Het
Zscan29 C T 2: 120,995,275 (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
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
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'- AGAGCTTGCTTTCATATCTTGGC -3'
(R):5'- TTATCTCCATGCAGGCCGTG -3'

Sequencing Primer
(F):5'- ATATCTTGGCCTCCCCAGC -3'
(R):5'- TTAGCCTGTGAGTGCCCCAAG -3'
Posted On 2015-06-12