Incidental Mutation 'R6127:Actl9'
ID 487472
Institutional Source Beutler Lab
Gene Symbol Actl9
Ensembl Gene ENSMUSG00000092519
Gene Name actin-like 9
Synonyms 1700029I08Rik
MMRRC Submission 044274-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6127 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 33651873-33653242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33652354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 138 (V138A)
Ref Sequence ENSEMBL: ENSMUSP00000134564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174088]
AlphaFold Q8CG27
Predicted Effect probably benign
Transcript: ENSMUST00000174088
AA Change: V138A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134564
Gene: ENSMUSG00000092519
AA Change: V138A

DomainStartEndE-ValueType
ACTIN 48 415 6.36e-112 SMART
Meta Mutation Damage Score 0.1314 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik A G 2: 154,391,509 (GRCm39) E92G probably damaging Het
4931429L15Rik T A 9: 46,220,220 (GRCm39) D104V probably damaging Het
Agl T A 3: 116,551,978 (GRCm39) I1204F probably damaging Het
Akna G T 4: 63,286,356 (GRCm39) T1381N possibly damaging Het
Atm A C 9: 53,435,809 (GRCm39) L167W probably damaging Het
Atp2b2 C T 6: 113,790,838 (GRCm39) E189K probably damaging Het
Bend7 A G 2: 4,768,088 (GRCm39) D348G probably damaging Het
Cactin G A 10: 81,160,143 (GRCm39) R412H possibly damaging Het
Carmil1 T C 13: 24,220,335 (GRCm39) T726A probably benign Het
Csmd3 T A 15: 47,513,624 (GRCm39) I2829F probably damaging Het
Ddx50 A T 10: 62,457,342 (GRCm39) probably null Het
Epha5 T G 5: 84,218,953 (GRCm39) K937N probably damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fuca1 T A 4: 135,662,122 (GRCm39) I350N probably damaging Het
Hagh G T 17: 25,079,978 (GRCm39) M152I probably damaging Het
Hexd T C 11: 121,107,825 (GRCm39) V185A possibly damaging Het
Ireb2 A G 9: 54,789,652 (GRCm39) T109A probably benign Het
Kcnh2 A G 5: 24,530,001 (GRCm39) Y702H probably damaging Het
Leng1 G A 7: 3,665,866 (GRCm39) P157L probably damaging Het
Maea C T 5: 33,492,862 (GRCm39) probably benign Het
Mertk G T 2: 128,580,211 (GRCm39) V222F probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Muc13 G A 16: 33,619,317 (GRCm39) A22T unknown Het
Muc16 T A 9: 18,569,174 (GRCm39) H1115L unknown Het
Or2y1d C A 11: 49,321,633 (GRCm39) T110K probably damaging Het
Or5ae2 T A 7: 84,506,410 (GRCm39) L278M probably damaging Het
Or5l13 T A 2: 87,779,705 (GRCm39) S291C probably damaging Het
Or6c69 A G 10: 129,747,284 (GRCm39) Y288H probably damaging Het
Pak5 G A 2: 135,929,326 (GRCm39) P619L probably damaging Het
Pcdh17 A G 14: 84,770,500 (GRCm39) K993E probably damaging Het
Pcdhga3 A T 18: 37,807,757 (GRCm39) Q70L probably damaging Het
Pcdhgb5 C A 18: 37,865,932 (GRCm39) R576S probably damaging Het
Pold1 T C 7: 44,191,545 (GRCm39) Y147C probably damaging Het
Prag1 T C 8: 36,614,555 (GRCm39) L1369P unknown Het
Psg29 T A 7: 16,945,671 (GRCm39) F414I probably benign Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rp1 C A 1: 4,419,534 (GRCm39) S526I possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Setd7 G A 3: 51,437,502 (GRCm39) T251I probably damaging Het
Slc25a41 T A 17: 57,341,914 (GRCm39) Y145F probably damaging Het
Stag1 T C 9: 100,833,750 (GRCm39) V1121A probably benign Het
Svip T C 7: 51,653,201 (GRCm39) T38A probably benign Het
Tacc2 A T 7: 130,227,845 (GRCm39) H1510L possibly damaging Het
Trav19 A G 14: 54,082,999 (GRCm39) T25A probably benign Het
Trip4 A T 9: 65,773,752 (GRCm39) probably null Het
Tulp1 T A 17: 28,575,124 (GRCm39) H447L probably benign Het
Vmn1r200 A T 13: 22,579,373 (GRCm39) T59S probably benign Het
Vmn2r51 A T 7: 9,839,558 (GRCm39) L10H probably damaging Het
Wee2 T C 6: 40,426,701 (GRCm39) Y157H probably damaging Het
Xrn1 T C 9: 95,851,542 (GRCm39) S187P probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Actl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Actl9 APN 17 33,653,152 (GRCm39) missense probably damaging 1.00
IGL01990:Actl9 APN 17 33,653,068 (GRCm39) missense probably benign 0.09
IGL02691:Actl9 APN 17 33,652,092 (GRCm39) missense probably damaging 0.99
IGL02930:Actl9 APN 17 33,653,073 (GRCm39) missense probably damaging 1.00
nerva UTSW 17 33,652,096 (GRCm39) missense probably damaging 1.00
PIT4486001:Actl9 UTSW 17 33,653,172 (GRCm39) missense possibly damaging 0.95
R0523:Actl9 UTSW 17 33,652,323 (GRCm39) missense probably damaging 1.00
R0606:Actl9 UTSW 17 33,652,572 (GRCm39) missense probably damaging 1.00
R1545:Actl9 UTSW 17 33,652,231 (GRCm39) missense probably damaging 1.00
R1732:Actl9 UTSW 17 33,652,096 (GRCm39) missense probably damaging 1.00
R3958:Actl9 UTSW 17 33,652,738 (GRCm39) missense probably benign 0.09
R4701:Actl9 UTSW 17 33,652,909 (GRCm39) missense probably benign 0.26
R4943:Actl9 UTSW 17 33,652,059 (GRCm39) missense possibly damaging 0.95
R4971:Actl9 UTSW 17 33,652,882 (GRCm39) missense probably damaging 1.00
R5032:Actl9 UTSW 17 33,653,062 (GRCm39) missense probably benign 0.04
R5236:Actl9 UTSW 17 33,653,073 (GRCm39) missense probably damaging 1.00
R5782:Actl9 UTSW 17 33,652,735 (GRCm39) missense probably benign 0.00
R6808:Actl9 UTSW 17 33,652,098 (GRCm39) missense probably damaging 1.00
R6899:Actl9 UTSW 17 33,652,533 (GRCm39) missense probably damaging 1.00
R7657:Actl9 UTSW 17 33,652,014 (GRCm39) missense probably benign 0.04
R7663:Actl9 UTSW 17 33,652,443 (GRCm39) missense probably damaging 1.00
R7905:Actl9 UTSW 17 33,652,801 (GRCm39) missense possibly damaging 0.92
R9140:Actl9 UTSW 17 33,652,170 (GRCm39) missense possibly damaging 0.70
R9224:Actl9 UTSW 17 33,653,004 (GRCm39) missense probably benign 0.03
X0062:Actl9 UTSW 17 33,652,102 (GRCm39) missense probably damaging 1.00
Z1176:Actl9 UTSW 17 33,652,075 (GRCm39) missense possibly damaging 0.95
Z1177:Actl9 UTSW 17 33,652,087 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTTTGCAGGACAGTCCCAAC -3'
(R):5'- GTGTCCACAACAAGTCCATTGAC -3'

Sequencing Primer
(F):5'- ACCATCCTGGGTTGCCAG -3'
(R):5'- AGTCCATTGACACGCCCG -3'
Posted On 2017-10-10