Incidental Mutation 'IGL01433:Avl9'
ID |
84239 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL01433
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56730382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 575
(D575G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031805]
|
AlphaFold |
Q80U56 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031805
AA Change: D575G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031805 Gene: ENSMUSG00000029787 AA Change: D575G
Domain | Start | End | E-Value | Type |
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt3 |
C |
T |
3: 30,652,188 (GRCm39) |
G302D |
probably damaging |
Het |
Adam19 |
T |
C |
11: 46,003,610 (GRCm39) |
L146P |
probably damaging |
Het |
Adcy8 |
T |
A |
15: 64,609,263 (GRCm39) |
Y852F |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,223,657 (GRCm39) |
T1520A |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,706,590 (GRCm39) |
V199I |
probably benign |
Het |
Bcam |
C |
A |
7: 19,494,107 (GRCm39) |
V395L |
possibly damaging |
Het |
Bltp1 |
T |
G |
3: 36,941,919 (GRCm39) |
S241R |
probably damaging |
Het |
Ccdc198 |
G |
T |
14: 49,473,341 (GRCm39) |
T128K |
probably benign |
Het |
Cgn |
T |
A |
3: 94,686,769 (GRCm39) |
N178Y |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,776,098 (GRCm39) |
D168E |
probably damaging |
Het |
Dnah17 |
G |
T |
11: 117,940,760 (GRCm39) |
T3288K |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,080,626 (GRCm39) |
I96N |
probably damaging |
Het |
Gdpd3 |
A |
G |
7: 126,370,356 (GRCm39) |
I264V |
possibly damaging |
Het |
Itih4 |
T |
C |
14: 30,617,405 (GRCm39) |
V575A |
probably benign |
Het |
Jhy |
G |
A |
9: 40,828,512 (GRCm39) |
R465C |
possibly damaging |
Het |
Kcna4 |
C |
T |
2: 107,127,078 (GRCm39) |
S604F |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,814 (GRCm39) |
V99A |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,392,888 (GRCm39) |
I489T |
possibly damaging |
Het |
Kif13a |
A |
G |
13: 46,926,384 (GRCm39) |
S241P |
probably damaging |
Het |
Lax1 |
T |
C |
1: 133,608,137 (GRCm39) |
I201M |
probably benign |
Het |
Lzic |
T |
A |
4: 149,572,604 (GRCm39) |
S65T |
probably benign |
Het |
Marchf9 |
T |
C |
10: 126,892,562 (GRCm39) |
T309A |
probably benign |
Het |
Ndufc1 |
T |
C |
3: 51,314,797 (GRCm39) |
K70E |
possibly damaging |
Het |
Optn |
T |
C |
2: 5,031,955 (GRCm39) |
K504R |
probably benign |
Het |
Or51q1 |
A |
T |
7: 103,628,539 (GRCm39) |
I53F |
probably damaging |
Het |
Pagr1a |
A |
G |
7: 126,614,647 (GRCm39) |
|
probably benign |
Het |
Pold1 |
G |
A |
7: 44,192,656 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
G |
10: 107,412,741 (GRCm39) |
I1786T |
probably damaging |
Het |
Rgs20 |
T |
C |
1: 5,140,300 (GRCm39) |
D34G |
possibly damaging |
Het |
Rnps1 |
T |
C |
17: 24,643,519 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
C |
14: 52,363,834 (GRCm39) |
V261A |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,247,935 (GRCm39) |
N220S |
probably benign |
Het |
Slc35f1 |
T |
A |
10: 52,949,542 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
T |
C |
10: 75,906,329 (GRCm39) |
|
probably benign |
Het |
Snx19 |
A |
G |
9: 30,340,067 (GRCm39) |
I402V |
possibly damaging |
Het |
Spaca6 |
T |
C |
17: 18,051,429 (GRCm39) |
V35A |
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,657 (GRCm39) |
T66A |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,701,348 (GRCm39) |
H288Y |
possibly damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,804,164 (GRCm39) |
Q393R |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,854,276 (GRCm39) |
Y133C |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,448,817 (GRCm39) |
D120G |
probably benign |
Het |
Vmn2r56 |
C |
A |
7: 12,449,541 (GRCm39) |
M232I |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,373,274 (GRCm39) |
|
probably null |
Het |
Zfp251 |
C |
T |
15: 76,738,755 (GRCm39) |
V113I |
probably benign |
Het |
|
Other mutations in Avl9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01302:Avl9
|
APN |
6 |
56,702,075 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Posted On |
2013-11-11 |