Incidental Mutation 'R6615:Avl9'
ID |
523925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Avl9
|
Ensembl Gene |
ENSMUSG00000029787 |
Gene Name |
AVL9 cell migration associated |
Synonyms |
D730049P16Rik, 5830411G16Rik |
MMRRC Submission |
044738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6615 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56730870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 598
(V598A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031805]
|
AlphaFold |
Q80U56 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031805
AA Change: V598A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000031805 Gene: ENSMUSG00000029787 AA Change: V598A
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
|
Meta Mutation Damage Score |
0.0588 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcar3 |
T |
A |
3: 122,220,282 (GRCm39) |
S60T |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
Calm3 |
A |
G |
7: 16,651,508 (GRCm39) |
|
probably null |
Het |
Ccdc113 |
A |
C |
8: 96,272,620 (GRCm39) |
E242D |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,786,315 (GRCm39) |
|
probably null |
Het |
Clhc1 |
T |
A |
11: 29,528,149 (GRCm39) |
M559K |
possibly damaging |
Het |
Dhx36 |
T |
A |
3: 62,396,338 (GRCm39) |
I440L |
probably benign |
Het |
Dnah7c |
A |
T |
1: 46,554,599 (GRCm39) |
T445S |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dsc2 |
T |
A |
18: 20,165,576 (GRCm39) |
H843L |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,701,811 (GRCm39) |
Y333C |
probably benign |
Het |
Fbxo41 |
T |
C |
6: 85,455,505 (GRCm39) |
T560A |
possibly damaging |
Het |
Fbxo7 |
A |
T |
10: 85,880,398 (GRCm39) |
H282L |
possibly damaging |
Het |
Gmnc |
T |
G |
16: 26,779,278 (GRCm39) |
D243A |
probably benign |
Het |
Hdac5 |
C |
A |
11: 102,087,882 (GRCm39) |
|
probably null |
Het |
Krt87 |
A |
G |
15: 101,334,443 (GRCm39) |
V188A |
probably benign |
Het |
Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,931,396 (GRCm39) |
L55Q |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,860,091 (GRCm39) |
C621Y |
probably damaging |
Het |
Marchf8 |
A |
G |
6: 116,382,624 (GRCm39) |
E147G |
probably damaging |
Het |
Muc16 |
T |
G |
9: 18,558,484 (GRCm39) |
H2603P |
unknown |
Het |
Nipa1 |
T |
A |
7: 55,629,571 (GRCm39) |
N181Y |
probably damaging |
Het |
Nt5el |
T |
A |
13: 105,248,993 (GRCm39) |
N402K |
probably damaging |
Het |
Or14c45 |
A |
G |
7: 86,176,120 (GRCm39) |
T52A |
probably benign |
Het |
Or2h2c |
G |
A |
17: 37,422,494 (GRCm39) |
P127S |
probably damaging |
Het |
Or4k37 |
A |
G |
2: 111,159,457 (GRCm39) |
D231G |
probably benign |
Het |
Or51f23c-ps1 |
T |
C |
7: 102,430,994 (GRCm39) |
F104L |
probably damaging |
Het |
Or7g35 |
A |
G |
9: 19,496,285 (GRCm39) |
I151V |
probably benign |
Het |
Pcf11 |
T |
A |
7: 92,307,090 (GRCm39) |
Q1026L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,687,644 (GRCm39) |
K378T |
possibly damaging |
Het |
Ptprm |
C |
T |
17: 67,660,951 (GRCm39) |
|
probably null |
Het |
Pxmp2 |
C |
A |
5: 110,425,573 (GRCm39) |
W154L |
possibly damaging |
Het |
Rdh7 |
T |
G |
10: 127,720,491 (GRCm39) |
S294R |
probably damaging |
Het |
Rexo1 |
C |
T |
10: 80,379,848 (GRCm39) |
R994Q |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,446,383 (GRCm39) |
T2810A |
probably benign |
Het |
Serpina3c |
A |
T |
12: 104,117,980 (GRCm39) |
H119Q |
possibly damaging |
Het |
Slc12a2 |
T |
G |
18: 58,031,200 (GRCm39) |
I335R |
probably damaging |
Het |
Slc25a13 |
C |
T |
6: 6,073,454 (GRCm39) |
R468Q |
probably damaging |
Het |
Slc5a6 |
C |
T |
5: 31,194,174 (GRCm39) |
V628I |
probably benign |
Het |
Srsf2 |
T |
C |
11: 116,743,905 (GRCm39) |
|
probably null |
Het |
Sugp2 |
A |
G |
8: 70,695,420 (GRCm39) |
Q131R |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,251,340 (GRCm39) |
R2525G |
probably damaging |
Het |
Tars3 |
T |
C |
7: 65,327,890 (GRCm39) |
F533S |
probably damaging |
Het |
Tmem8b |
G |
T |
4: 43,682,249 (GRCm39) |
G82W |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,837,890 (GRCm39) |
I987T |
possibly damaging |
Het |
Usp44 |
T |
C |
10: 93,682,351 (GRCm39) |
V267A |
possibly damaging |
Het |
Wac |
C |
A |
18: 7,868,884 (GRCm39) |
|
probably null |
Het |
Xkr5 |
T |
C |
8: 18,983,569 (GRCm39) |
I658V |
probably benign |
Het |
Zbtb38 |
A |
T |
9: 96,568,707 (GRCm39) |
Y792* |
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 |
|
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 |
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'- TGAGATAACAGGACTTGCCATTC -3'
(R):5'- TCTGTAGTGTCTCTAAAAGCCCC -3'
Sequencing Primer
(F):5'- CCTCTCAGAAATCATATCTGTCAAG -3'
(R):5'- AAAGCCCCCTTGTATTGTTATGTG -3'
|
Posted On |
2018-06-22 |