Incidental Mutation 'H8786:Avl9'
ID 44432
Institutional Source Beutler Lab
Gene Symbol Avl9
Ensembl Gene ENSMUSG00000029787
Gene Name AVL9 cell migration associated
Synonyms D730049P16Rik, 5830411G16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # H8786 (G3) of strain 617
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 56691884-56738897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56734295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 625 (A625T)
Ref Sequence ENSEMBL: ENSMUSP00000031805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031805]
AlphaFold Q80U56
Predicted Effect probably damaging
Transcript: ENSMUST00000031805
AA Change: A625T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: A625T

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
Meta Mutation Damage Score 0.2868 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,498,905 (GRCm39) Y363H probably benign Het
4933402N03Rik T A 7: 130,740,906 (GRCm39) R103S probably damaging Het
Aars1 A G 8: 111,772,187 (GRCm39) D459G probably benign Het
Adam25 A T 8: 41,207,261 (GRCm39) M176L probably benign Het
Adcy5 A G 16: 35,087,551 (GRCm39) I471V probably damaging Het
Ano8 A T 8: 71,931,388 (GRCm39) probably benign Het
Arhgef28 T A 13: 98,083,461 (GRCm39) Q1136L probably damaging Het
Atp13a3 A T 16: 30,178,543 (GRCm39) C164* probably null Het
Avpr1a A T 10: 122,285,373 (GRCm39) M222L probably benign Het
B4galnt4 A T 7: 140,651,235 (GRCm39) M939L probably damaging Het
B4galt6 A G 18: 20,822,001 (GRCm39) F331S probably benign Het
C2cd2 G T 16: 97,680,840 (GRCm39) Q325K possibly damaging Het
Caml T G 13: 55,776,409 (GRCm39) L216R probably damaging Het
Cd200r4 A G 16: 44,653,736 (GRCm39) T132A possibly damaging Het
Ces1h A C 8: 94,089,550 (GRCm39) V283G probably damaging Het
Clptm1 A T 7: 19,369,629 (GRCm39) V427D possibly damaging Het
Drd1 T A 13: 54,207,122 (GRCm39) N357I possibly damaging Het
Foxq1 C G 13: 31,743,441 (GRCm39) S181W probably damaging Het
Gfra2 C T 14: 71,215,818 (GRCm39) T169M possibly damaging Het
Gm42542 T C 6: 68,872,634 (GRCm39) probably null Het
Hoxa13 CGG CGNGG 6: 52,260,636 (GRCm38) probably null Het
Hsd11b1 C A 1: 192,922,560 (GRCm39) A166S probably benign Het
Kcnab3 T A 11: 69,219,093 (GRCm39) F101L probably damaging Het
Klf6 C A 13: 5,911,790 (GRCm39) H51Q probably damaging Het
Krtap4-8 G A 11: 99,670,898 (GRCm39) P191L unknown Het
Lrrk2 T A 15: 91,557,561 (GRCm39) N26K probably benign Het
Mrgprd T C 7: 144,876,004 (GRCm39) S292P probably benign Het
Ms4a8a A G 19: 11,053,725 (GRCm39) I127T possibly damaging Het
Myo7a T G 7: 97,744,985 (GRCm39) N280T possibly damaging Het
Nipal4 A G 11: 46,041,304 (GRCm39) F297S probably damaging Het
Npas1 A G 7: 16,195,275 (GRCm39) I351T possibly damaging Het
Or12k7 A G 2: 36,958,341 (GRCm39) E8G probably benign Het
Or4a72 C A 2: 89,405,623 (GRCm39) G149V probably damaging Het
Or9e1 A T 11: 58,732,146 (GRCm39) I69F probably benign Het
Parp11 A G 6: 127,448,598 (GRCm39) T72A probably damaging Het
Pik3c3 T C 18: 30,427,396 (GRCm39) V300A probably damaging Het
Pik3cb T C 9: 98,928,612 (GRCm39) E881G possibly damaging Het
Polr2h T A 16: 20,539,281 (GRCm39) L57* probably null Het
Rela T A 19: 5,697,046 (GRCm39) S418T probably benign Het
Rptn A G 3: 93,305,180 (GRCm39) T838A possibly damaging Het
Sez6l2 T A 7: 126,560,955 (GRCm39) N413K possibly damaging Het
Slc6a2 A G 8: 93,721,268 (GRCm39) I466V probably benign Het
Slco4c1 A T 1: 96,768,876 (GRCm39) C329S probably damaging Het
Sppl2c A G 11: 104,077,691 (GRCm39) M164V probably benign Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
Sqor A C 2: 122,634,288 (GRCm39) I142L probably benign Het
Suco T C 1: 161,680,420 (GRCm39) E317G probably damaging Het
Tlk2 T A 11: 105,145,805 (GRCm39) I337N possibly damaging Het
Tln1 A T 4: 43,544,589 (GRCm39) N1113K probably damaging Het
Tmc2 A G 2: 130,068,182 (GRCm39) Y234C probably damaging Het
Tmem167 A C 13: 90,246,585 (GRCm39) K36N probably damaging Het
Trim72 T C 7: 127,603,963 (GRCm39) L103P probably damaging Het
Tut4 T C 4: 108,408,012 (GRCm39) probably null Het
Urb1 T A 16: 90,566,357 (GRCm39) M1477L probably benign Het
Vwa2 T A 19: 56,898,164 (GRCm39) M721K possibly damaging Het
Zfp143 T G 7: 109,693,575 (GRCm39) D636E 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
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
R0122: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'- GGGCTCCTATGGTGAAACATTACTCAG -3'
(R):5'- AGAGTGCAACCGTCCATGTAAACAG -3'

Sequencing Primer
(F):5'- ctcaaaaatccgcctgcc -3'
(R):5'- GTAAACAGTTTATCATCTTGGTCCC -3'
Posted On 2013-06-11