Incidental Mutation 'R7191:Actmap'
ID 559594
Institutional Source Beutler Lab
Gene Symbol Actmap
Ensembl Gene ENSMUSG00000078786
Gene Name actin maturation protease
Synonyms BC024978
MMRRC Submission 045274-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R7191 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26895206-26909611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26900548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 176 (A176T)
Ref Sequence ENSEMBL: ENSMUSP00000104016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080356] [ENSMUST00000108379] [ENSMUST00000122202] [ENSMUST00000179391]
AlphaFold J3QPC3
Predicted Effect probably benign
Transcript: ENSMUST00000080356
SMART Domains Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
RRM 214 283 6.31e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108379
AA Change: A176T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: A176T

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122202
SMART Domains Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
RRM 214 283 6.31e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123108
Predicted Effect probably damaging
Transcript: ENSMUST00000155931
AA Change: A139T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
AA Change: A139T

DomainStartEndE-ValueType
low complexity region 14 44 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179391
AA Change: A176T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: A176T

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Meta Mutation Damage Score 0.0924 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,472,314 (GRCm39) I129F probably benign Het
Ank2 T A 3: 126,740,041 (GRCm39) T1948S unknown Het
Arap1 T C 7: 101,034,199 (GRCm39) C214R probably benign Het
Ccdc82 C T 9: 13,252,097 (GRCm39) Q130* probably null Het
Cfh A C 1: 140,040,305 (GRCm39) V597G probably benign Het
Clp1 A T 2: 84,554,490 (GRCm39) C226* probably null Het
Cyp39a1 G A 17: 44,041,910 (GRCm39) W372* probably null Het
Dchs1 G A 7: 105,414,646 (GRCm39) P799S possibly damaging Het
Dmbt1 A T 7: 130,646,250 (GRCm39) N167I unknown Het
Dock10 A G 1: 80,518,048 (GRCm39) S1310P possibly damaging Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Fras1 A G 5: 96,762,771 (GRCm39) T758A probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gcg C G 2: 62,307,183 (GRCm39) G126A probably damaging Het
Get1 A G 16: 95,953,145 (GRCm39) I79V possibly damaging Het
Gne T C 4: 44,040,266 (GRCm39) K633E probably benign Het
Gpr4 T C 7: 18,957,155 (GRCm39) V359A probably benign Het
Gprc5c C T 11: 114,759,443 (GRCm39) T422M possibly damaging Het
Gria2 C A 3: 80,639,392 (GRCm39) V207L probably benign Het
Hid1 T C 11: 115,239,295 (GRCm39) *789W probably null Het
Iigp1c A T 18: 60,379,329 (GRCm39) D288V probably benign Het
Jakmip3 G A 7: 138,591,257 (GRCm39) probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Krt16 T C 11: 100,137,484 (GRCm39) E407G probably damaging Het
Krt81 T C 15: 101,358,110 (GRCm39) D381G probably damaging Het
Lrrc34 C T 3: 30,679,027 (GRCm39) G357S possibly damaging Het
Lypd11 C T 7: 24,422,759 (GRCm39) V105I possibly damaging Het
Mipol1 A G 12: 57,503,852 (GRCm39) Q340R probably benign Het
Mpzl3 T G 9: 44,966,542 (GRCm39) M1R probably null Het
Nrcam A G 12: 44,619,027 (GRCm39) N852S probably benign Het
Nudcd2 C T 11: 40,627,430 (GRCm39) Q117* probably null Het
Nup35 A T 2: 80,488,723 (GRCm39) E320V probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or5p56 G A 7: 107,589,853 (GRCm39) V94M possibly damaging Het
Pkhd1 T C 1: 20,628,943 (GRCm39) H668R probably benign Het
Ptprc T A 1: 138,028,782 (GRCm39) D333V probably benign Het
Rdh16 A G 10: 127,649,287 (GRCm39) K248E probably benign Het
Samd4b C A 7: 28,113,686 (GRCm39) G93V probably benign Het
Scgn A G 13: 24,165,476 (GRCm39) I78T probably benign Het
Slfn14 T C 11: 83,167,575 (GRCm39) I647V probably benign Het
Smyd5 T C 6: 85,417,093 (GRCm39) V157A probably benign Het
Syde2 T C 3: 145,708,113 (GRCm39) M951T probably benign Het
Tas2r105 T C 6: 131,663,945 (GRCm39) N161S probably damaging Het
Tbck T C 3: 132,443,316 (GRCm39) F581L probably damaging Het
Traip A G 9: 107,847,216 (GRCm39) N352D probably benign Het
Trim29 A G 9: 43,222,906 (GRCm39) Y245C probably damaging Het
Trpv4 T C 5: 114,771,201 (GRCm39) I443V probably benign Het
Usp36 C T 11: 118,159,660 (GRCm39) E595K probably benign Het
Vmn2r51 T A 7: 9,834,480 (GRCm39) Y186F probably null Het
Vmn2r97 A G 17: 19,150,548 (GRCm39) Y465C probably damaging Het
Zfp277 A T 12: 40,379,561 (GRCm39) H324Q probably damaging Het
Zfp987 A G 4: 146,058,473 (GRCm39) D17G probably damaging Het
Other mutations in Actmap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:Actmap APN 7 26,903,298 (GRCm39) missense probably damaging 0.97
IGL03092:Actmap APN 7 26,900,561 (GRCm39) missense probably damaging 1.00
IGL03184:Actmap APN 7 26,896,432 (GRCm39) utr 5 prime probably benign
IGL03348:Actmap APN 7 26,896,545 (GRCm39) splice site probably null
R0245:Actmap UTSW 7 26,900,028 (GRCm39) missense possibly damaging 0.92
R0650:Actmap UTSW 7 26,902,072 (GRCm39) missense probably damaging 1.00
R1522:Actmap UTSW 7 26,902,105 (GRCm39) missense probably damaging 1.00
R4731:Actmap UTSW 7 26,900,468 (GRCm39) missense probably damaging 1.00
R4732:Actmap UTSW 7 26,900,468 (GRCm39) missense probably damaging 1.00
R4733:Actmap UTSW 7 26,900,468 (GRCm39) missense probably damaging 1.00
R5502:Actmap UTSW 7 26,896,542 (GRCm39) missense possibly damaging 0.90
R6672:Actmap UTSW 7 26,903,489 (GRCm39) intron probably benign
R7190:Actmap UTSW 7 26,900,548 (GRCm39) missense probably damaging 1.00
R7299:Actmap UTSW 7 26,900,548 (GRCm39) missense probably damaging 1.00
R7300:Actmap UTSW 7 26,900,548 (GRCm39) missense probably damaging 1.00
R8716:Actmap UTSW 7 26,896,631 (GRCm39) missense probably damaging 0.96
R8780:Actmap UTSW 7 26,900,503 (GRCm39) missense probably benign 0.01
R8952:Actmap UTSW 7 26,900,025 (GRCm39) missense probably damaging 1.00
R9758:Actmap UTSW 7 26,896,655 (GRCm39) missense possibly damaging 0.83
X0003:Actmap UTSW 7 26,901,916 (GRCm39) missense probably benign 0.07
X0024:Actmap UTSW 7 26,900,516 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTTAACTCCCACCTACCAG -3'
(R):5'- GCAGTCTGGATTGACGTGTC -3'

Sequencing Primer
(F):5'- GAGGCAAGTCATACTTTGCCC -3'
(R):5'- CTGGATTGACGTGTCCTGGTAAC -3'
Posted On 2019-06-26