Incidental Mutation 'R3972:Avl9'
| ID |
311017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Avl9
|
| Ensembl Gene |
ENSMUSG00000029787 |
| Gene Name |
AVL9 cell migration associated |
| Synonyms |
D730049P16Rik, 5830411G16Rik |
| MMRRC Submission |
040840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R3972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56720393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 477
(F477S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031805]
|
| AlphaFold |
Q80U56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031805
AA Change: F477S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: F477S
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
| C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
| Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,707,344 (GRCm39) |
K248R |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
| Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
| Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
| Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,819,334 (GRCm39) |
I137V |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,505 (GRCm39) |
E67D |
probably damaging |
Het |
| Tpcn1 |
C |
A |
5: 120,691,817 (GRCm39) |
|
probably null |
Het |
| Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
| Ttll12 |
A |
T |
15: 83,466,297 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,216,256 (GRCm39) |
D148G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
| Zfp266 |
A |
G |
9: 20,411,446 (GRCm39) |
S244P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
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 |
|
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 |
|
|
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'- AGTATACAGAAACCGCAGTGTAC -3'
(R):5'- GAAGAATTGTGGCTGAGTGC -3'
Sequencing Primer
(F):5'- GTGTACACACCTGCCTCTTTCTTAG -3'
(R):5'- TACCAATGGTTGTGAGCCAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation