Incidental Mutation 'IGL02391:Actbl2'
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ID293869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actbl2
Ensembl Gene ENSMUSG00000055194
Gene Nameactin, beta-like 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL02391
Quality Score
Status
Chromosome13
Chromosomal Location111255013-111257749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111255167 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000052086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054716]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054716
AA Change: D12G

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: D12G

DomainStartEndE-ValueType
ACTIN 6 376 5.41e-229 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Actbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02065:Actbl2 APN 13 111255691 missense probably benign 0.16
IGL02966:Actbl2 APN 13 111255572 missense probably damaging 1.00
IGL03160:Actbl2 APN 13 111255928 missense probably benign 0.10
IGL03271:Actbl2 APN 13 111255874 missense probably benign
IGL02802:Actbl2 UTSW 13 111255776 missense probably damaging 1.00
R1500:Actbl2 UTSW 13 111255320 missense probably damaging 1.00
R2119:Actbl2 UTSW 13 111255160 missense probably benign 0.36
R2504:Actbl2 UTSW 13 111256183 missense possibly damaging 0.83
R5029:Actbl2 UTSW 13 111255593 missense probably benign 0.24
R5460:Actbl2 UTSW 13 111255704 missense probably benign
R6321:Actbl2 UTSW 13 111255381 missense probably damaging 0.99
R6375:Actbl2 UTSW 13 111255944 missense probably damaging 1.00
R7003:Actbl2 UTSW 13 111255956 missense probably damaging 0.96
R7399:Actbl2 UTSW 13 111255593 missense probably benign 0.24
R7407:Actbl2 UTSW 13 111256218 missense probably damaging 1.00
R7482:Actbl2 UTSW 13 111256139 missense probably damaging 0.99
R7568:Actbl2 UTSW 13 111255422 missense possibly damaging 0.62
R7645:Actbl2 UTSW 13 111256255 missense probably benign 0.31
R7784:Actbl2 UTSW 13 111255411 missense probably damaging 0.98
X0063:Actbl2 UTSW 13 111255325 missense probably benign 0.35
Posted On2015-04-16