Incidental Mutation 'R0446:Avl9'
ID |
39369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Avl9
|
Ensembl Gene |
ENSMUSG00000029787 |
Gene Name |
AVL9 cell migration associated |
Synonyms |
D730049P16Rik, 5830411G16Rik |
MMRRC Submission |
038647-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R0446 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 56713468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 242
(R242L)
|
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: R242L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000031805 Gene: ENSMUSG00000029787 AA Change: R242L
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 |
0.2567 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,971,766 (GRCm39) |
T42A |
probably benign |
Het |
Actr3b |
T |
A |
5: 26,036,730 (GRCm39) |
I181K |
probably damaging |
Het |
B3galt4 |
T |
C |
17: 34,169,992 (GRCm39) |
E82G |
probably benign |
Het |
Bag1 |
G |
A |
4: 40,936,609 (GRCm39) |
T349I |
probably benign |
Het |
Brip1 |
A |
T |
11: 86,048,427 (GRCm39) |
L305Q |
probably damaging |
Het |
Cdipt |
A |
G |
7: 126,577,436 (GRCm39) |
T61A |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,536,295 (GRCm39) |
D515G |
probably benign |
Het |
Cpsf4 |
T |
A |
5: 145,114,054 (GRCm39) |
L171Q |
probably damaging |
Het |
Cstpp1 |
G |
A |
2: 91,135,109 (GRCm39) |
T20I |
possibly damaging |
Het |
Cuzd1 |
A |
T |
7: 130,918,009 (GRCm39) |
|
probably null |
Het |
Dapk1 |
T |
A |
13: 60,873,101 (GRCm39) |
|
probably null |
Het |
Diaph1 |
A |
G |
18: 37,986,643 (GRCm39) |
V1114A |
possibly damaging |
Het |
Emx2 |
A |
T |
19: 59,452,348 (GRCm39) |
K211* |
probably null |
Het |
Fam170a |
T |
A |
18: 50,413,699 (GRCm39) |
C55S |
possibly damaging |
Het |
Fbxw26 |
A |
G |
9: 109,572,788 (GRCm39) |
S119P |
probably benign |
Het |
Fhip2a |
G |
A |
19: 57,369,839 (GRCm39) |
D461N |
probably benign |
Het |
Fryl |
G |
A |
5: 73,254,760 (GRCm39) |
T894M |
possibly damaging |
Het |
Gad1-ps |
C |
A |
10: 99,281,383 (GRCm39) |
|
noncoding transcript |
Het |
Gss |
T |
C |
2: 155,409,665 (GRCm39) |
E257G |
probably benign |
Het |
Klhdc1 |
A |
C |
12: 69,330,082 (GRCm39) |
S404R |
probably benign |
Het |
Kmt2e |
T |
A |
5: 23,702,532 (GRCm39) |
|
probably null |
Het |
Krt20 |
G |
A |
11: 99,328,602 (GRCm39) |
Q108* |
probably null |
Het |
Lmnb1 |
T |
A |
18: 56,876,331 (GRCm39) |
S480T |
probably benign |
Het |
Lyst |
T |
A |
13: 13,812,633 (GRCm39) |
M1015K |
probably benign |
Het |
Mdm1 |
T |
G |
10: 117,987,961 (GRCm39) |
S290A |
probably benign |
Het |
Mkln1 |
T |
A |
6: 31,426,439 (GRCm39) |
F238I |
probably damaging |
Het |
Mrgprb3 |
A |
G |
7: 48,292,984 (GRCm39) |
V189A |
probably benign |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Neurod6 |
C |
T |
6: 55,656,614 (GRCm39) |
E8K |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,282,659 (GRCm39) |
I747V |
probably benign |
Het |
Notch4 |
C |
T |
17: 34,784,337 (GRCm39) |
R43W |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,886,238 (GRCm39) |
|
probably benign |
Het |
Or10d3 |
A |
T |
9: 39,461,747 (GRCm39) |
I140N |
probably damaging |
Het |
Or5p57 |
A |
T |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
Or5w20 |
T |
C |
2: 87,727,199 (GRCm39) |
Y219H |
possibly damaging |
Het |
Or6ae1 |
A |
T |
7: 139,742,384 (GRCm39) |
S160T |
probably damaging |
Het |
Or6z5 |
T |
C |
7: 6,478,024 (GRCm39) |
V305A |
probably benign |
Het |
Or8b53 |
G |
T |
9: 38,667,114 (GRCm39) |
L43F |
probably damaging |
Het |
Orc5 |
C |
T |
5: 22,751,455 (GRCm39) |
V85I |
probably benign |
Het |
Pccb |
T |
C |
9: 100,864,850 (GRCm39) |
D468G |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,375,110 (GRCm39) |
V1675E |
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pltp |
A |
T |
2: 164,696,320 (GRCm39) |
N97K |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,927,648 (GRCm39) |
|
probably null |
Het |
Prss42 |
G |
A |
9: 110,628,341 (GRCm39) |
V162I |
possibly damaging |
Het |
Rbfox2 |
A |
T |
15: 76,983,455 (GRCm39) |
Y269N |
probably damaging |
Het |
Rftn2 |
A |
T |
1: 55,253,354 (GRCm39) |
I83K |
probably damaging |
Het |
S1pr4 |
A |
T |
10: 81,334,823 (GRCm39) |
I217N |
probably damaging |
Het |
Slc23a2 |
T |
C |
2: 131,920,353 (GRCm39) |
K184R |
probably benign |
Het |
Slc6a19 |
T |
C |
13: 73,839,814 (GRCm39) |
N156S |
probably benign |
Het |
Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
Tbc1d32 |
T |
A |
10: 56,068,994 (GRCm39) |
H358L |
possibly damaging |
Het |
Tex55 |
G |
A |
16: 38,649,064 (GRCm39) |
T15I |
probably benign |
Het |
Tigit |
G |
T |
16: 43,482,634 (GRCm39) |
N33K |
probably damaging |
Het |
Tmem25 |
T |
C |
9: 44,707,878 (GRCm39) |
Y139C |
probably damaging |
Het |
Trmt13 |
G |
A |
3: 116,376,275 (GRCm39) |
T372M |
probably damaging |
Het |
Ubr2 |
A |
T |
17: 47,294,224 (GRCm39) |
M303K |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,417,207 (GRCm39) |
E2952G |
probably damaging |
Het |
Zan |
T |
A |
5: 137,389,920 (GRCm39) |
I4851F |
unknown |
Het |
Zfand4 |
C |
T |
6: 116,265,015 (GRCm39) |
T160I |
probably benign |
Het |
Zfp1005 |
A |
G |
2: 150,109,993 (GRCm39) |
T228A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- tgctatcacactcaactTTCCCAGC -3'
(R):5'- ACAGTAATTGGAGGACTGTCCGAGG -3'
Sequencing Primer
(F):5'- acactcaactTTCCCAGCTTTTTC -3'
(R):5'- ACCTTCTACTTGGAAGTAAGGC -3'
|
Posted On |
2013-05-23 |