Incidental Mutation 'R9213:Avl9'
ID |
698994 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Avl9
|
Ensembl Gene |
ENSMUSG00000029787 |
Gene Name |
AVL9 cell migration associated |
Synonyms |
D730049P16Rik, 5830411G16Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R9213 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56720441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 493
(F493S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031805]
|
AlphaFold |
Q80U56 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031805
AA Change: F493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031805 Gene: ENSMUSG00000029787 AA Change: F493S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
A |
13: 104,581,440 (GRCm39) |
C852S |
probably damaging |
Het |
Arf1 |
A |
G |
11: 59,104,186 (GRCm39) |
V43A |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,340,000 (GRCm39) |
M674K |
probably benign |
Het |
Asb1 |
A |
C |
1: 91,482,531 (GRCm39) |
K314N |
probably damaging |
Het |
Aste1 |
T |
C |
9: 105,274,294 (GRCm39) |
F178S |
probably damaging |
Het |
BC024139 |
T |
C |
15: 76,009,422 (GRCm39) |
Y220C |
probably benign |
Het |
Ccdc60 |
T |
C |
5: 116,328,185 (GRCm39) |
E93G |
probably damaging |
Het |
Cep112 |
A |
G |
11: 108,377,779 (GRCm39) |
H295R |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,255,628 (GRCm39) |
K87E |
possibly damaging |
Het |
Chordc1 |
G |
T |
9: 18,223,789 (GRCm39) |
|
probably null |
Het |
Ciita |
A |
T |
16: 10,319,742 (GRCm39) |
D55V |
probably damaging |
Het |
Cklf |
T |
C |
8: 104,988,125 (GRCm39) |
V86A |
probably damaging |
Het |
Clock |
T |
A |
5: 76,393,376 (GRCm39) |
N189I |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,444,205 (GRCm39) |
|
probably null |
Het |
Dpep3 |
C |
G |
8: 106,700,245 (GRCm39) |
C487S |
probably benign |
Het |
Dtwd2 |
A |
G |
18: 49,856,799 (GRCm39) |
F163L |
probably benign |
Het |
Eln |
C |
T |
5: 134,735,456 (GRCm39) |
V776M |
unknown |
Het |
Fanci |
T |
A |
7: 79,055,971 (GRCm39) |
M201K |
possibly damaging |
Het |
Frmd4a |
A |
G |
2: 4,608,372 (GRCm39) |
T747A |
probably damaging |
Het |
Galnt9 |
T |
A |
5: 110,767,108 (GRCm39) |
C526* |
probably null |
Het |
Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
Gdpd5 |
T |
C |
7: 99,100,945 (GRCm39) |
S247P |
probably damaging |
Het |
Gm4846 |
C |
T |
1: 166,322,142 (GRCm39) |
D142N |
probably damaging |
Het |
Kbtbd2 |
T |
A |
6: 56,756,917 (GRCm39) |
E273V |
probably damaging |
Het |
Klk1b11 |
A |
G |
7: 43,648,428 (GRCm39) |
E145G |
possibly damaging |
Het |
Mmp1a |
G |
T |
9: 7,475,364 (GRCm39) |
V378F |
possibly damaging |
Het |
Mon2 |
G |
T |
10: 122,872,016 (GRCm39) |
S336* |
probably null |
Het |
Mrgprh |
T |
A |
17: 13,095,917 (GRCm39) |
N52K |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,772,922 (GRCm39) |
F985L |
probably benign |
Het |
Nek3 |
T |
C |
8: 22,638,677 (GRCm39) |
N207S |
probably benign |
Het |
Nkpd1 |
A |
G |
7: 19,258,009 (GRCm39) |
D596G |
probably damaging |
Het |
Oc90 |
C |
A |
15: 65,761,557 (GRCm39) |
E154* |
probably null |
Het |
Or8b101 |
T |
A |
9: 38,020,426 (GRCm39) |
M143K |
possibly damaging |
Het |
Or8b3 |
C |
A |
9: 38,315,047 (GRCm39) |
Y292* |
probably null |
Het |
Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,358,874 (GRCm39) |
Y361C |
probably damaging |
Het |
Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
Potefam1 |
T |
A |
2: 111,020,699 (GRCm39) |
R136S |
unknown |
Het |
Ppp1r26 |
A |
G |
2: 28,343,649 (GRCm39) |
N1093S |
probably benign |
Het |
Prex1 |
G |
T |
2: 166,417,669 (GRCm39) |
R1313S |
probably damaging |
Het |
Ptprh |
A |
T |
7: 4,583,911 (GRCm39) |
V227E |
probably damaging |
Het |
Pycr2 |
A |
G |
1: 180,733,473 (GRCm39) |
D58G |
probably benign |
Het |
Rad54b |
G |
T |
4: 11,609,321 (GRCm39) |
E591* |
probably null |
Het |
Rptor |
T |
C |
11: 119,494,765 (GRCm39) |
S44P |
probably benign |
Het |
Safb2 |
T |
A |
17: 56,882,602 (GRCm39) |
T344S |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,856 (GRCm39) |
E135G |
probably benign |
Het |
Sec23a |
A |
T |
12: 59,048,708 (GRCm39) |
I167N |
probably damaging |
Het |
Shoc2 |
C |
T |
19: 54,016,231 (GRCm39) |
T415I |
probably benign |
Het |
Sobp |
T |
C |
10: 42,898,374 (GRCm39) |
I404V |
probably benign |
Het |
Ssbp4 |
G |
T |
8: 71,052,395 (GRCm39) |
L147I |
probably benign |
Het |
Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
Syt14 |
A |
G |
1: 192,612,814 (GRCm39) |
V379A |
probably damaging |
Het |
Tat |
T |
G |
8: 110,722,820 (GRCm39) |
I294S |
probably damaging |
Het |
Tcf19 |
A |
G |
17: 35,825,899 (GRCm39) |
V86A |
probably damaging |
Het |
Tfap2a |
T |
A |
13: 40,870,875 (GRCm39) |
I338F |
possibly damaging |
Het |
Tmco6 |
C |
A |
18: 36,872,384 (GRCm39) |
N365K |
probably damaging |
Het |
Tmub2 |
G |
A |
11: 102,178,475 (GRCm39) |
R164K |
|
Het |
Togaram1 |
A |
G |
12: 65,065,906 (GRCm39) |
I1637V |
possibly damaging |
Het |
Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
Ybx1 |
T |
A |
4: 119,138,794 (GRCm39) |
Y236F |
possibly damaging |
Het |
Zfhx3 |
T |
A |
8: 109,676,756 (GRCm39) |
I2602N |
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 |
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 |
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 |
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'- GAAATCTGTGTCCCAACTCTGAC -3'
(R):5'- GAAGAATTGTGGCTGAGTGC -3'
Sequencing Primer
(F):5'- AACTCTGACTTGTACCTGGGCAC -3'
(R):5'- TACCAATGGTTGTGAGCCAC -3'
|
Posted On |
2022-02-07 |