Incidental Mutation 'R6321:Actbl2'
ID510364
Institutional Source Beutler Lab
Gene Symbol Actbl2
Ensembl Gene ENSMUSG00000055194
Gene Nameactin, beta-like 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #R6321 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location111255013-111257749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 111255381 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 83 (M83I)
Ref Sequence ENSEMBL: ENSMUSP00000052086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054716]
Predicted Effect probably damaging
Transcript: ENSMUST00000054716
AA Change: M83I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: M83I

DomainStartEndE-ValueType
ACTIN 6 376 5.41e-229 SMART
Meta Mutation Damage Score 0.4844 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,257,006 probably null Het
Adgra2 T A 8: 27,114,162 M460K probably benign Het
Aldh16a1 G A 7: 45,149,765 A31V probably damaging Het
Ank2 T C 3: 126,946,938 probably benign Het
Arrdc4 C A 7: 68,749,045 D8Y probably benign Het
Auts2 A G 5: 131,466,115 Y110H probably damaging Het
Blnk A T 19: 40,934,459 Y405N probably damaging Het
Capsl T C 15: 9,461,769 F84L probably damaging Het
Cenpl T C 1: 161,074,895 S46P probably benign Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Chrnd C T 1: 87,192,229 R90C probably damaging Het
Cyfip2 A T 11: 46,291,520 M37K probably benign Het
Dnah11 T C 12: 118,142,292 E625G possibly damaging Het
Dnah5 T G 15: 28,372,411 V2936G probably damaging Het
Dock9 A G 14: 121,546,021 M2055T probably damaging Het
Epb41l2 A T 10: 25,468,128 R274S probably damaging Het
Erich3 A T 3: 154,727,502 H371L probably damaging Het
Evi5l C A 8: 4,203,080 P454T probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Golgb1 T A 16: 36,918,197 C2299* probably null Het
Heca G C 10: 17,915,243 probably null Het
Hecw1 C T 13: 14,522,829 A9T probably benign Het
Hs3st6 T A 17: 24,758,568 W341R probably damaging Het
Kidins220 C T 12: 25,057,534 S1571L probably benign Het
Klk9 A G 7: 43,794,308 E82G probably damaging Het
Ltbp3 C A 19: 5,745,657 H180Q probably benign Het
Mecom A G 3: 29,980,592 Y502H probably damaging Het
Mfsd2a A G 4: 122,949,372 V372A probably benign Het
Mrgprd A G 7: 145,322,142 D250G probably benign Het
Muc2 A G 7: 141,700,828 D191G probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Naip6 C A 13: 100,300,401 S538I probably benign Het
Olfr1312 A G 2: 112,042,768 V88A probably benign Het
Olfr692 A G 7: 105,368,902 Y192C probably damaging Het
Pnpla6 T C 8: 3,544,015 V1342A probably benign Het
Ppp1r9a A G 6: 5,115,151 E789G probably damaging Het
Prkdc A G 16: 15,714,919 T1471A probably benign Het
Scarb1 T A 5: 125,304,331 S50C probably damaging Het
Slc4a8 C T 15: 100,789,164 T283M probably damaging Het
Smc2 C A 4: 52,462,814 D601E probably benign Het
Snx6 C A 12: 54,752,013 V221F probably damaging Het
Spag17 A C 3: 100,088,427 K1794T probably benign Het
Tpo A G 12: 30,103,108 W416R probably damaging Het
Ttc13 C A 8: 124,683,191 K427N probably damaging Het
Upf3a A T 8: 13,787,466 N137I possibly damaging Het
Ush2a C T 1: 188,849,046 Q3708* probably null Het
Zbtb17 G A 4: 141,463,383 G171S probably benign Het
Zfp451 A G 1: 33,813,735 F33L probably damaging Het
Zfp454 A G 11: 50,873,049 F408L probably damaging Het
Zfp639 T C 3: 32,517,088 Y40H probably damaging Het
Other mutations in Actbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02065:Actbl2 APN 13 111255691 missense probably benign 0.16
IGL02391:Actbl2 APN 13 111255167 missense possibly damaging 0.61
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
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
Predicted Primers PCR Primer
(F):5'- GGTTGACGATGAGCTGACTG -3'
(R):5'- CGGCTTGGATTGCTACATACATG -3'

Sequencing Primer
(F):5'- CTGACTGCTTTGGTAGTAGATAATG -3'
(R):5'- ATTGCTACATACATGGCAGGTG -3'
Posted On2018-04-02