Incidental Mutation 'R5782:Actl9'
ID 447832
Institutional Source Beutler Lab
Gene Symbol Actl9
Ensembl Gene ENSMUSG00000092519
Gene Name actin-like 9
Synonyms 1700029I08Rik
MMRRC Submission 043379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5782 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 33651873-33653242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33652735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 265 (Q265L)
Ref Sequence ENSEMBL: ENSMUSP00000134564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174088]
AlphaFold Q8CG27
Predicted Effect probably benign
Transcript: ENSMUST00000174088
AA Change: Q265L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134564
Gene: ENSMUSG00000092519
AA Change: Q265L

DomainStartEndE-ValueType
ACTIN 48 415 6.36e-112 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192181
AA Change: Q289L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202215
AA Change: Q289L
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 82,189,494 (GRCm39) probably null Het
Agt A T 8: 125,283,870 (GRCm39) probably null Het
Ankrd11 A G 8: 123,626,756 (GRCm39) L142P probably damaging Het
Arhgef19 C A 4: 140,983,623 (GRCm39) Q719K probably damaging Het
Armh3 A G 19: 45,874,466 (GRCm39) V569A probably benign Het
Atrnl1 G T 19: 57,741,718 (GRCm39) W1159L possibly damaging Het
Atxn2 T C 5: 121,935,373 (GRCm39) Y325H probably damaging Het
Brwd1 A T 16: 95,844,243 (GRCm39) Y770* probably null Het
Cdc20 T C 4: 118,290,239 (GRCm39) E474G probably benign Het
Cdk5rap3 A G 11: 96,802,412 (GRCm39) L254P probably benign Het
Cep83 A T 10: 94,584,894 (GRCm39) N333I probably damaging Het
Cox4i2 A C 2: 152,606,731 (GRCm39) D150A probably damaging Het
Cse1l A G 2: 166,770,921 (GRCm39) I314M probably damaging Het
Cuedc1 A G 11: 88,060,858 (GRCm39) Y67C probably damaging Het
Cyp2j9 C T 4: 96,462,142 (GRCm39) V380I probably benign Het
Fancd2 A G 6: 113,525,833 (GRCm39) N302S probably benign Het
Foxa1 T A 12: 57,589,302 (GRCm39) H306L probably benign Het
Gse1 T C 8: 121,293,260 (GRCm39) S204P probably damaging Het
Hspa13 C A 16: 75,554,985 (GRCm39) R367L probably damaging Het
Kcnk2 T G 1: 188,988,776 (GRCm39) D267A probably damaging Het
Kctd18 A G 1: 57,998,396 (GRCm39) Y68H probably damaging Het
Khdc4 T G 3: 88,618,985 (GRCm39) V563G probably damaging Het
Klf7 C T 1: 64,081,570 (GRCm39) E253K possibly damaging Het
Lcn12 A T 2: 25,383,769 (GRCm39) F34I probably damaging Het
Lrrk2 A T 15: 91,586,386 (GRCm39) R401W probably damaging Het
Lzts1 A T 8: 69,593,350 (GRCm39) S86T probably benign Het
Mtres1 T C 10: 43,408,899 (GRCm39) I81M probably benign Het
Mtus1 T A 8: 41,535,764 (GRCm39) I651F probably damaging Het
Myl2 T A 5: 122,242,933 (GRCm39) F106L probably damaging Het
Neb T A 2: 52,154,059 (GRCm39) K2351* probably null Het
Or14c45 T A 7: 86,176,421 (GRCm39) I152N probably damaging Het
Or52e5 T C 7: 104,718,956 (GRCm39) I94T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Parg A T 14: 31,996,862 (GRCm39) R318* probably null Het
Pcdhga3 C T 18: 37,809,353 (GRCm39) S602F possibly damaging Het
Pcnx2 A G 8: 126,480,223 (GRCm39) V2028A probably damaging Het
Pkhd1 T C 1: 20,128,824 (GRCm39) T3960A probably benign Het
Psen1 T A 12: 83,759,233 (GRCm39) H81Q possibly damaging Het
Psma6 A G 12: 55,457,041 (GRCm39) N109S possibly damaging Het
Ptpro A T 6: 137,376,496 (GRCm39) I659F possibly damaging Het
Rap1gds1 C G 3: 138,664,840 (GRCm39) E288D possibly damaging Het
Reln C T 5: 22,223,054 (GRCm39) R993K probably benign Het
Saxo1 T A 4: 86,364,044 (GRCm39) L146F probably damaging Het
Six4 A G 12: 73,150,832 (GRCm39) V571A probably benign Het
Slc2a10 C A 2: 165,356,758 (GRCm39) Y139* probably null Het
Slc34a1 A G 13: 55,550,501 (GRCm39) I66V possibly damaging Het
Slfn8 G T 11: 82,907,867 (GRCm39) N46K probably damaging Het
Smc6 G C 12: 11,340,835 (GRCm39) A496P probably damaging Het
Stk31 T G 6: 49,446,070 (GRCm39) N902K probably benign Het
Stk36 T A 1: 74,644,584 (GRCm39) Y114N possibly damaging Het
Sult2b1 C T 7: 45,380,770 (GRCm39) V271M probably damaging Het
Tenm4 A G 7: 96,542,246 (GRCm39) I1920V probably benign Het
Trbc2 A G 6: 41,523,871 (GRCm39) probably benign Het
Trpc2 A G 7: 101,733,186 (GRCm39) D419G possibly damaging Het
Trpm7 T C 2: 126,639,634 (GRCm39) N1654S probably benign Het
Tsku A T 7: 98,002,057 (GRCm39) D91E probably damaging Het
Ttn T A 2: 76,606,355 (GRCm39) R18151S probably damaging Het
Tyr C T 7: 87,142,224 (GRCm39) C112Y probably damaging Het
Ubash3a G A 17: 31,454,477 (GRCm39) G435S probably benign Het
Vav1 T C 17: 57,603,001 (GRCm39) I51T probably damaging Het
Vmn2r61 T A 7: 41,949,253 (GRCm39) C558S probably damaging Het
Zan C T 5: 137,418,269 (GRCm39) C2943Y unknown Het
Zfp1002 T C 2: 150,097,438 (GRCm39) E25G probably benign Het
Zfp267 T C 3: 36,219,128 (GRCm39) S384P possibly damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp575 C A 7: 24,285,027 (GRCm39) G205C possibly damaging Het
Zfp740 G T 15: 102,116,801 (GRCm39) probably benign Het
Zzz3 A G 3: 152,133,737 (GRCm39) E265G possibly 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
R6127:Actl9 UTSW 17 33,652,354 (GRCm39) missense probably benign 0.03
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'- TGGACTTGTTGTGGACACCG -3'
(R):5'- CTTGAGGAGGCTCTGTTCAG -3'

Sequencing Primer
(F):5'- CTACACGGTGCCAGTTGTTCAG -3'
(R):5'- GCTCTGTTCAGCCATGGC -3'
Posted On 2016-12-15