Incidental Mutation 'IGL02932:Avl9'
| ID |
364155 |
| 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 # |
IGL02932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56713536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 265
(S265P)
|
| 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: S265P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: S265P
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177249
|
| SMART Domains |
Protein: ENSMUSP00000144696
Gene: ENSMUSG00000029787
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Afi1
|
15 |
111 |
2e-8 |
PFAM |
|
Pfam:Avl9
|
16 |
209 |
3.9e-86 |
PFAM |
|
Pfam:DUF2347
|
19 |
179 |
3.9e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
T |
A |
9: 9,115,709 (GRCm39) |
E122D |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 30,979,067 (GRCm39) |
|
probably null |
Het |
| Cep44 |
C |
T |
8: 57,000,459 (GRCm39) |
R18Q |
probably damaging |
Het |
| Clec10a |
T |
C |
11: 70,060,554 (GRCm39) |
|
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,579,065 (GRCm39) |
I115V |
probably benign |
Het |
| Coq3 |
C |
T |
4: 21,900,430 (GRCm39) |
A219V |
probably benign |
Het |
| Cry2 |
G |
A |
2: 92,243,462 (GRCm39) |
R460* |
probably null |
Het |
| Ddx39b |
A |
G |
17: 35,472,337 (GRCm39) |
|
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,662,755 (GRCm39) |
R646C |
probably damaging |
Het |
| Ears2 |
G |
A |
7: 121,662,284 (GRCm39) |
R55C |
probably damaging |
Het |
| Eif3m |
C |
T |
2: 104,845,214 (GRCm39) |
G26R |
probably damaging |
Het |
| Exo5 |
A |
G |
4: 120,779,742 (GRCm39) |
L41P |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,749,965 (GRCm39) |
H417R |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,037,929 (GRCm39) |
L296Q |
probably damaging |
Het |
| Gpr143 |
A |
T |
X: 151,576,439 (GRCm39) |
|
probably benign |
Het |
| Htr1b |
C |
A |
9: 81,513,689 (GRCm39) |
R306L |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,661,858 (GRCm39) |
A2185T |
probably damaging |
Het |
| Mbd5 |
C |
A |
2: 49,169,460 (GRCm39) |
Q1544K |
possibly damaging |
Het |
| Mccc1 |
T |
C |
3: 36,014,178 (GRCm39) |
E713G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,817,505 (GRCm39) |
F415S |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Mup6 |
A |
C |
4: 60,006,009 (GRCm39) |
D159A |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,037,472 (GRCm39) |
L698P |
probably damaging |
Het |
| Or2w6 |
A |
T |
13: 21,843,001 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4p22 |
G |
T |
2: 88,317,519 (GRCm39) |
V148F |
probably benign |
Het |
| Or5p70 |
A |
G |
7: 107,994,720 (GRCm39) |
N131S |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,738,287 (GRCm39) |
C97* |
probably null |
Het |
| Osgepl1 |
G |
A |
1: 53,360,675 (GRCm39) |
R372H |
probably benign |
Het |
| Pias2 |
C |
T |
18: 77,232,799 (GRCm39) |
H537Y |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,572,783 (GRCm39) |
I149M |
probably damaging |
Het |
| Smn1 |
A |
G |
13: 100,264,472 (GRCm39) |
T68A |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,707,231 (GRCm39) |
K657R |
possibly damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,098,190 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
| Tmem255a |
T |
A |
X: 37,296,940 (GRCm39) |
T280S |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,215 (GRCm39) |
T128A |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,509,591 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation