Incidental Mutation 'R0122:Avl9'
ID 21087
Institutional Source Beutler Lab
Gene Symbol Avl9
Ensembl Gene ENSMUSG00000029787
Gene Name AVL9 cell migration associated
Synonyms D730049P16Rik, 5830411G16Rik
MMRRC Submission 038407-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R0122 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 6
Chromosomal Location 56691884-56738897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56713468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 242 (R242L)
Ref Sequence ENSEMBL: ENSMUSP00000031805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031805] [ENSMUST00000177249]
AlphaFold Q80U56
Predicted Effect probably benign
Transcript: ENSMUST00000031805
AA Change: R242L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: R242L

DomainStartEndE-ValueType
Pfam:Afi1 15 102 3.8e-11 PFAM
Pfam:Avl9 16 521 7.1e-160 PFAM
Pfam:DUF2347 19 175 1.6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176560
Predicted Effect probably benign
Transcript: ENSMUST00000177249
SMART Domains Protein: ENSMUSP00000144696
Gene: ENSMUSG00000029787

DomainStartEndE-ValueType
Pfam:Afi1 15 111 2e-8 PFAM
Pfam:Avl9 16 209 3.9e-86 PFAM
Pfam:DUF2347 19 179 3.9e-8 PFAM
Meta Mutation Damage Score 0.2567 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Adam12 T A 7: 133,614,077 (GRCm39) I60F probably benign Het
Adamts10 A G 17: 33,747,454 (GRCm39) probably benign Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Adamts7 A G 9: 90,061,474 (GRCm39) E360G probably damaging Het
Atn1 A T 6: 124,720,197 (GRCm39) probably benign Het
Baz2b G T 2: 59,743,963 (GRCm39) probably null Het
Bloc1s6 G C 2: 122,587,963 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C1qa T A 4: 136,625,142 (GRCm39) T3S probably benign Het
Cacna1e A T 1: 154,319,647 (GRCm39) F1351Y probably damaging Het
Car9 C T 4: 43,512,206 (GRCm39) A356V probably benign Het
Ccdc116 T A 16: 16,960,598 (GRCm39) D73V probably damaging Het
Ces2g T C 8: 105,694,932 (GRCm39) Y518H probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cmc1 A T 9: 117,894,388 (GRCm39) C29S probably damaging Het
Coil T A 11: 88,875,833 (GRCm39) probably benign Het
Col3a1 C T 1: 45,380,057 (GRCm39) probably benign Het
Cox15 A G 19: 43,737,229 (GRCm39) I135T possibly damaging Het
Cyld T C 8: 89,468,920 (GRCm39) S564P probably damaging Het
Dnah5 T A 15: 28,378,509 (GRCm39) N2948K probably damaging Het
Dnah7a G A 1: 53,436,301 (GRCm39) R4014W probably damaging Het
Dnmt3b T C 2: 153,518,618 (GRCm39) Y594H probably damaging Het
Dntt A G 19: 41,041,477 (GRCm39) K387R possibly damaging Het
Efcab7 G A 4: 99,749,560 (GRCm39) probably benign Het
Flvcr1 G T 1: 190,753,423 (GRCm39) P250T possibly damaging Het
Gga2 C A 7: 121,590,797 (GRCm39) V504L probably damaging Het
Gm12239 T A 11: 55,906,738 (GRCm39) noncoding transcript Het
Gm6327 T C 16: 12,578,890 (GRCm39) noncoding transcript Het
Krt26 G T 11: 99,224,545 (GRCm39) Y324* probably null Het
Lamb2 A T 9: 108,363,713 (GRCm39) H939L probably benign Het
Lipo3 C T 19: 33,600,086 (GRCm39) probably benign Het
Mmp1b G A 9: 7,386,689 (GRCm39) T145M probably damaging Het
Mrps27 G T 13: 99,501,736 (GRCm39) V76L probably benign Het
Mup6 T A 4: 60,003,995 (GRCm39) Y29* probably null Het
Nlrc3 T C 16: 3,776,822 (GRCm39) K756E probably damaging Het
Nnt T C 13: 119,505,133 (GRCm39) H527R probably damaging Het
Nudt8 T C 19: 4,051,306 (GRCm39) V59A probably benign Het
Ofcc1 A T 13: 40,434,032 (GRCm39) probably null Het
Or10d1 A T 9: 39,484,020 (GRCm39) D178E probably damaging Het
Or2a25 T C 6: 42,888,889 (GRCm39) V144A probably benign Het
Or51q1c T C 7: 103,652,565 (GRCm39) W28R probably damaging Het
Pdgfd T C 9: 6,293,851 (GRCm39) S142P probably damaging Het
Pias4 G T 10: 80,992,921 (GRCm39) Q22K probably damaging Het
Pin1 T C 9: 20,573,600 (GRCm39) I95T probably benign Het
Pramel23 A T 4: 143,424,974 (GRCm39) D156E probably benign Het
Prickle2 G A 6: 92,388,326 (GRCm39) Q359* probably null Het
Qrich2 G T 11: 116,337,639 (GRCm39) Q1950K possibly damaging Het
Rab10 C A 12: 3,359,357 (GRCm39) G21V probably damaging Het
Rbm27 T A 18: 42,447,033 (GRCm39) probably benign Het
Samd4 C A 14: 47,254,017 (GRCm39) S160R probably benign Het
Scube3 A C 17: 28,385,502 (GRCm39) probably benign Het
Serpinf2 A G 11: 75,327,372 (GRCm39) L185P probably damaging Het
Slc16a12 A G 19: 34,652,264 (GRCm39) I294T probably benign Het
Slc45a3 T A 1: 131,905,478 (GRCm39) M167K probably damaging Het
Sspo T A 6: 48,450,910 (GRCm39) L2673Q possibly damaging Het
Supt3 A G 17: 45,314,028 (GRCm39) D139G probably damaging Het
Tas1r3 T C 4: 155,945,290 (GRCm39) M644V probably benign Het
Tgfbi A G 13: 56,775,781 (GRCm39) T276A probably damaging Het
Tmem177 T C 1: 119,838,308 (GRCm39) I124V probably benign Het
Tmprss11f G T 5: 86,681,484 (GRCm39) probably benign Het
Tmprss3 G A 17: 31,412,876 (GRCm39) probably benign Het
Twf1 A G 15: 94,484,430 (GRCm39) probably benign Het
Uba52 T A 8: 70,961,951 (GRCm39) Q166L probably damaging Het
Ubr3 G T 2: 69,809,756 (GRCm39) G1242V probably damaging Het
Unc13d C T 11: 115,956,308 (GRCm39) S835N probably benign Het
Ush2a A G 1: 188,680,652 (GRCm39) K4877E possibly damaging Het
Vmn2r98 A G 17: 19,286,662 (GRCm39) I387V probably benign Het
Vps11 A T 9: 44,265,809 (GRCm39) I490N probably damaging Het
Vstm4 T A 14: 32,585,768 (GRCm39) probably null Het
Zfp110 C A 7: 12,582,524 (GRCm39) H391N possibly damaging Het
Zfp212 C T 6: 47,907,957 (GRCm39) P312L possibly damaging Het
Zfp329 A T 7: 12,544,914 (GRCm39) H203Q probably damaging Het
Zscan12 G A 13: 21,553,139 (GRCm39) G321E probably damaging Het
Other mutations in Avl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Avl9 APN 6 56,702,075 (GRCm39) missense probably damaging 1.00
IGL01433:Avl9 APN 6 56,730,382 (GRCm39) missense probably damaging 0.99
IGL02865:Avl9 APN 6 56,713,858 (GRCm39) missense probably damaging 1.00
IGL02932:Avl9 APN 6 56,713,536 (GRCm39) missense probably benign 0.00
Athens UTSW 6 56,730,870 (GRCm39) missense probably benign 0.00
Atlanta UTSW 6 56,730,375 (GRCm39) missense possibly damaging 0.54
H8562:Avl9 UTSW 6 56,734,295 (GRCm39) missense probably damaging 1.00
H8786:Avl9 UTSW 6 56,734,295 (GRCm39) missense probably damaging 1.00
R0003:Avl9 UTSW 6 56,713,468 (GRCm39) missense probably benign 0.00
R0029:Avl9 UTSW 6 56,713,468 (GRCm39) missense probably benign 0.00
R0102:Avl9 UTSW 6 56,713,468 (GRCm39) missense probably benign 0.00
R0103:Avl9 UTSW 6 56,713,468 (GRCm39) missense probably benign 0.00
R0147:Avl9 UTSW 6 56,713,487 (GRCm39) missense probably benign 0.00
R0372:Avl9 UTSW 6 56,703,309 (GRCm39) critical splice donor site probably null
R0446:Avl9 UTSW 6 56,713,468 (GRCm39) missense probably benign 0.00
R0600:Avl9 UTSW 6 56,713,891 (GRCm39) missense probably benign 0.03
R0667:Avl9 UTSW 6 56,713,468 (GRCm39) missense probably benign 0.00
R1560:Avl9 UTSW 6 56,702,113 (GRCm39) nonsense probably null
R1566:Avl9 UTSW 6 56,713,467 (GRCm39) nonsense probably null
R2069:Avl9 UTSW 6 56,713,420 (GRCm39) splice site probably benign
R2362:Avl9 UTSW 6 56,713,555 (GRCm39) missense probably benign 0.07
R2483:Avl9 UTSW 6 56,713,828 (GRCm39) missense probably benign
R2941:Avl9 UTSW 6 56,730,870 (GRCm39) missense probably benign 0.00
R3028:Avl9 UTSW 6 56,707,672 (GRCm39) unclassified probably benign
R3437:Avl9 UTSW 6 56,713,612 (GRCm39) missense probably benign
R3690:Avl9 UTSW 6 56,713,812 (GRCm39) missense probably benign
R3691:Avl9 UTSW 6 56,713,812 (GRCm39) missense probably benign
R3947:Avl9 UTSW 6 56,705,650 (GRCm39) critical splice donor site probably null
R3948:Avl9 UTSW 6 56,705,650 (GRCm39) critical splice donor site probably null
R3949:Avl9 UTSW 6 56,705,650 (GRCm39) critical splice donor site probably null
R3972:Avl9 UTSW 6 56,720,393 (GRCm39) missense probably damaging 1.00
R4734:Avl9 UTSW 6 56,713,479 (GRCm39) missense probably damaging 0.96
R4739:Avl9 UTSW 6 56,703,294 (GRCm39) missense probably damaging 1.00
R5661:Avl9 UTSW 6 56,702,087 (GRCm39) nonsense probably null
R5664:Avl9 UTSW 6 56,730,824 (GRCm39) missense probably damaging 1.00
R6010:Avl9 UTSW 6 56,730,375 (GRCm39) missense possibly damaging 0.54
R6615:Avl9 UTSW 6 56,730,870 (GRCm39) missense probably benign 0.00
R6719:Avl9 UTSW 6 56,730,370 (GRCm39) missense probably damaging 1.00
R7138:Avl9 UTSW 6 56,705,242 (GRCm39) missense probably damaging 1.00
R7947:Avl9 UTSW 6 56,700,526 (GRCm39) missense possibly damaging 0.72
R8030:Avl9 UTSW 6 56,718,407 (GRCm39) missense probably damaging 0.99
R8537:Avl9 UTSW 6 56,705,644 (GRCm39) nonsense probably null
R8683:Avl9 UTSW 6 56,730,378 (GRCm39) missense probably benign 0.14
R9098:Avl9 UTSW 6 56,707,628 (GRCm39) missense probably benign 0.01
R9213:Avl9 UTSW 6 56,720,441 (GRCm39) missense probably damaging 1.00
R9274:Avl9 UTSW 6 56,720,346 (GRCm39) missense probably damaging 0.99
R9452:Avl9 UTSW 6 56,706,726 (GRCm39) missense probably damaging 0.97
R9585:Avl9 UTSW 6 56,734,299 (GRCm39) missense probably damaging 0.97
R9628:Avl9 UTSW 6 56,713,460 (GRCm39) nonsense probably null
R9633:Avl9 UTSW 6 56,707,634 (GRCm39) missense probably damaging 1.00
R9747:Avl9 UTSW 6 56,730,825 (GRCm39) missense probably damaging 1.00
Z1176:Avl9 UTSW 6 56,713,749 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- tgctatcacactcaactTTCCCAGC -3'
(R):5'- ACAGTAATTGGAGGACTGTCCGAGG -3'

Sequencing Primer
(F):5'- acactcaactTTCCCAGCTTTTTC -3'
(R):5'- ACCTTCTACTTGGAAGTAAGGC -3'
Posted On 2013-04-11