Incidental Mutation 'R3437:Avl9'
ID |
267234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Avl9
|
Ensembl Gene |
ENSMUSG00000029787 |
Gene Name |
AVL9 cell migration associated |
Synonyms |
D730049P16Rik, 5830411G16Rik |
MMRRC Submission |
040655-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R3437 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56713612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 290
(V290A)
|
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: V290A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031805 Gene: ENSMUSG00000029787 AA Change: V290A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
G |
6: 121,616,253 (GRCm39) |
L127R |
probably null |
Het |
Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
Amy1 |
G |
A |
3: 113,349,658 (GRCm39) |
A504V |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
Bad |
A |
G |
19: 6,919,799 (GRCm39) |
R37G |
probably benign |
Het |
Bicra |
T |
C |
7: 15,723,223 (GRCm39) |
D98G |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,474,889 (GRCm39) |
T650M |
unknown |
Het |
Cyp11b2 |
T |
C |
15: 74,727,298 (GRCm39) |
R128G |
probably benign |
Het |
Dst |
T |
C |
1: 34,229,303 (GRCm39) |
S1974P |
probably damaging |
Het |
Fabp1 |
T |
C |
6: 71,178,595 (GRCm39) |
L24P |
probably benign |
Het |
Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
Gmnc |
G |
T |
16: 26,779,217 (GRCm39) |
H221Q |
probably benign |
Het |
Homer1 |
T |
C |
13: 93,502,929 (GRCm39) |
|
probably benign |
Het |
Kit |
A |
G |
5: 75,806,565 (GRCm39) |
D690G |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mc3r |
C |
T |
2: 172,091,588 (GRCm39) |
T270I |
probably benign |
Het |
Mrgpra3 |
A |
C |
7: 47,239,314 (GRCm39) |
L204W |
probably damaging |
Het |
Mroh1 |
C |
T |
15: 76,317,808 (GRCm39) |
T839I |
possibly damaging |
Het |
Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
Or5af1 |
A |
T |
11: 58,722,150 (GRCm39) |
M57L |
probably damaging |
Het |
P4ha3 |
C |
T |
7: 99,934,831 (GRCm39) |
A31V |
possibly damaging |
Het |
Plch2 |
A |
G |
4: 155,075,470 (GRCm39) |
|
probably null |
Het |
Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
Pter |
T |
A |
2: 13,005,805 (GRCm39) |
L326H |
probably benign |
Het |
Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
Slc8a2 |
T |
G |
7: 15,892,810 (GRCm39) |
V824G |
probably damaging |
Het |
Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
Tro |
G |
A |
X: 149,429,252 (GRCm39) |
|
probably benign |
Het |
Uspl1 |
T |
A |
5: 149,151,507 (GRCm39) |
|
probably benign |
Het |
Uty |
A |
G |
Y: 1,158,336 (GRCm39) |
I522T |
probably benign |
Het |
Vmn1r120 |
A |
C |
7: 20,787,582 (GRCm39) |
L43W |
probably damaging |
Het |
Vmn2r16 |
A |
T |
5: 109,478,362 (GRCm39) |
D39V |
probably damaging |
Het |
Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
Wnt16 |
T |
C |
6: 22,298,133 (GRCm39) |
V333A |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
Zfy1 |
A |
T |
Y: 726,357 (GRCm39) |
D469E |
possibly damaging |
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 |
|
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'- GCCTCAGTGACTGTTCTCAG -3'
(R):5'- GTAATTGGAGGACTGTCCGAGG -3'
Sequencing Primer
(F):5'- CTGTTCTCAGTATAGACCTCGAAAG -3'
(R):5'- AATAAGTGTGTCTGGTCTGACCCC -3'
|
Posted On |
2015-02-18 |