Incidental Mutation 'IGL01580:Phactr3'
ID 91370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phactr3
Ensembl Gene ENSMUSG00000027525
Gene Name phosphatase and actin regulator 3
Synonyms 4930415A02Rik, 1500003N10Rik, scapinin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL01580
Quality Score
Status
Chromosome 2
Chromosomal Location 177760768-177980285 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 177911297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103065] [ENSMUST00000103066] [ENSMUST00000108915] [ENSMUST00000108916] [ENSMUST00000108917]
AlphaFold Q8BYK5
Predicted Effect probably benign
Transcript: ENSMUST00000103065
SMART Domains Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
RPEL 52 77 2.08e0 SMART
low complexity region 187 206 N/A INTRINSIC
RPEL 360 385 5.1e-4 SMART
low complexity region 387 397 N/A INTRINSIC
RPEL 398 423 3.24e-6 SMART
RPEL 436 461 9.82e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103066
SMART Domains Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
low complexity region 75 88 N/A INTRINSIC
RPEL 92 117 2.08e0 SMART
low complexity region 227 246 N/A INTRINSIC
RPEL 400 425 5.1e-4 SMART
low complexity region 427 437 N/A INTRINSIC
RPEL 438 463 3.24e-6 SMART
RPEL 476 501 9.82e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108915
SMART Domains Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
RPEL 93 118 2.08e0 SMART
low complexity region 228 247 N/A INTRINSIC
RPEL 401 426 5.1e-4 SMART
low complexity region 428 438 N/A INTRINSIC
RPEL 439 464 3.24e-6 SMART
RPEL 477 502 9.82e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108916
SMART Domains Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
RPEL 88 113 2.08e0 SMART
low complexity region 223 242 N/A INTRINSIC
RPEL 396 421 5.1e-4 SMART
low complexity region 423 433 N/A INTRINSIC
RPEL 434 459 3.24e-6 SMART
RPEL 472 497 9.82e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108917
SMART Domains Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
RPEL 88 113 2.08e0 SMART
low complexity region 223 242 N/A INTRINSIC
RPEL 396 421 5.1e-4 SMART
low complexity region 423 433 N/A INTRINSIC
RPEL 436 458 2.74e-4 SMART
RPEL 471 496 9.82e-6 SMART
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 member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,243,527 (GRCm39) V1797I probably benign Het
Abi3bp A G 16: 56,495,573 (GRCm39) E865G probably damaging Het
Ahnak A G 19: 8,980,203 (GRCm39) T496A probably benign Het
BC030500 T C 8: 59,366,054 (GRCm39) probably benign Het
Col6a4 A C 9: 105,945,397 (GRCm39) Y906D probably damaging Het
Dip2c T G 13: 9,687,124 (GRCm39) probably null Het
Frem2 A G 3: 53,562,596 (GRCm39) I637T probably damaging Het
Guf1 T C 5: 69,722,764 (GRCm39) probably benign Het
Htr1f G A 16: 64,746,198 (GRCm39) R365* probably null Het
Oog4 T C 4: 143,165,682 (GRCm39) N155S probably benign Het
Or10ag2 A T 2: 87,248,880 (GRCm39) I163F probably benign Het
Or52x1 T C 7: 104,853,113 (GRCm39) I146V probably benign Het
Pi4k2b T C 5: 52,912,003 (GRCm39) V300A possibly damaging Het
Pik3c2g A G 6: 139,599,514 (GRCm39) D210G probably damaging Het
Pxdn A G 12: 30,034,492 (GRCm39) T182A probably benign Het
Scn10a A G 9: 119,456,225 (GRCm39) V1199A probably damaging Het
Scrn2 A G 11: 96,922,956 (GRCm39) H133R probably benign Het
Shq1 G A 6: 100,550,705 (GRCm39) S411L possibly damaging Het
Tmcc1 A C 6: 116,019,946 (GRCm39) V462G possibly damaging Het
Other mutations in Phactr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Phactr3 APN 2 177,920,855 (GRCm39) missense probably benign 0.00
IGL01432:Phactr3 APN 2 177,924,893 (GRCm39) missense probably benign 0.05
IGL02688:Phactr3 APN 2 177,920,792 (GRCm39) missense probably damaging 0.96
IGL02985:Phactr3 APN 2 177,817,250 (GRCm39) missense probably benign
PIT4151001:Phactr3 UTSW 2 177,975,861 (GRCm39) missense probably damaging 1.00
R1854:Phactr3 UTSW 2 177,924,940 (GRCm39) missense probably damaging 1.00
R2132:Phactr3 UTSW 2 177,925,759 (GRCm39) missense probably benign 0.14
R3110:Phactr3 UTSW 2 177,920,810 (GRCm39) missense possibly damaging 0.85
R3112:Phactr3 UTSW 2 177,920,810 (GRCm39) missense possibly damaging 0.85
R3122:Phactr3 UTSW 2 177,973,411 (GRCm39) missense probably damaging 1.00
R4193:Phactr3 UTSW 2 177,924,945 (GRCm39) missense probably damaging 0.98
R4194:Phactr3 UTSW 2 177,924,902 (GRCm39) missense possibly damaging 0.80
R4243:Phactr3 UTSW 2 177,924,982 (GRCm39) splice site probably null
R4245:Phactr3 UTSW 2 177,924,982 (GRCm39) splice site probably null
R4397:Phactr3 UTSW 2 177,817,199 (GRCm39) intron probably benign
R4433:Phactr3 UTSW 2 177,924,925 (GRCm39) missense probably damaging 1.00
R4581:Phactr3 UTSW 2 177,924,965 (GRCm39) missense probably damaging 1.00
R4772:Phactr3 UTSW 2 177,925,729 (GRCm39) missense probably damaging 1.00
R4830:Phactr3 UTSW 2 177,925,811 (GRCm39) missense probably damaging 0.98
R5045:Phactr3 UTSW 2 177,973,412 (GRCm39) missense probably damaging 1.00
R5442:Phactr3 UTSW 2 177,784,254 (GRCm39) missense probably benign 0.38
R5461:Phactr3 UTSW 2 177,920,694 (GRCm39) missense probably benign
R5816:Phactr3 UTSW 2 177,944,586 (GRCm39) missense probably damaging 1.00
R6276:Phactr3 UTSW 2 177,920,812 (GRCm39) missense probably damaging 0.99
R6668:Phactr3 UTSW 2 177,974,657 (GRCm39) missense probably damaging 1.00
R7144:Phactr3 UTSW 2 177,944,529 (GRCm39) missense probably damaging 1.00
R7340:Phactr3 UTSW 2 177,975,854 (GRCm39) missense probably damaging 1.00
R7798:Phactr3 UTSW 2 177,925,703 (GRCm39) missense probably benign 0.19
R8009:Phactr3 UTSW 2 177,974,737 (GRCm39) missense probably damaging 1.00
R8074:Phactr3 UTSW 2 177,944,589 (GRCm39) missense probably damaging 1.00
R8348:Phactr3 UTSW 2 177,897,935 (GRCm39) missense probably benign 0.03
R8530:Phactr3 UTSW 2 177,925,819 (GRCm39) missense probably damaging 1.00
R9077:Phactr3 UTSW 2 177,974,758 (GRCm39) splice site probably benign
R9153:Phactr3 UTSW 2 177,925,739 (GRCm39) missense possibly damaging 0.79
R9406:Phactr3 UTSW 2 177,925,856 (GRCm39) missense probably damaging 0.99
R9676:Phactr3 UTSW 2 177,925,837 (GRCm39) nonsense probably null
R9721:Phactr3 UTSW 2 177,898,043 (GRCm39) missense probably damaging 1.00
R9722:Phactr3 UTSW 2 177,898,043 (GRCm39) missense probably damaging 1.00
R9776:Phactr3 UTSW 2 177,975,896 (GRCm39) missense probably damaging 1.00
R9778:Phactr3 UTSW 2 177,924,805 (GRCm39) missense possibly damaging 0.73
Z1176:Phactr3 UTSW 2 177,911,167 (GRCm39) missense probably damaging 0.96
Posted On 2013-12-09