Incidental Mutation 'R6719:Avl9'
ID |
529491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Avl9
|
Ensembl Gene |
ENSMUSG00000029787 |
Gene Name |
AVL9 cell migration associated |
Synonyms |
D730049P16Rik, 5830411G16Rik |
MMRRC Submission |
044837-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R6719 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
56691884-56738897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56730370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 571
(Y571C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031805]
|
AlphaFold |
Q80U56 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031805
AA Change: Y571C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031805 Gene: ENSMUSG00000029787 AA Change: Y571C
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
T |
C |
19: 42,041,151 (GRCm39) |
I94T |
possibly damaging |
Het |
Afp |
T |
A |
5: 90,651,562 (GRCm39) |
N392K |
probably benign |
Het |
Asrgl1 |
C |
T |
19: 9,090,512 (GRCm39) |
G278D |
probably damaging |
Het |
Atp2c1 |
T |
C |
9: 105,301,377 (GRCm39) |
I611V |
probably damaging |
Het |
Clrn1 |
A |
T |
3: 58,753,861 (GRCm39) |
C167S |
probably damaging |
Het |
Ctsr |
C |
T |
13: 61,308,265 (GRCm39) |
G293D |
possibly damaging |
Het |
Dmbt1 |
T |
A |
7: 130,721,332 (GRCm39) |
S1867T |
possibly damaging |
Het |
Dock9 |
A |
T |
14: 121,847,439 (GRCm39) |
I1025N |
probably damaging |
Het |
Dppa4 |
G |
A |
16: 48,108,247 (GRCm39) |
A11T |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,114,867 (GRCm39) |
|
probably null |
Het |
Fat3 |
A |
G |
9: 15,907,440 (GRCm39) |
L2854P |
probably benign |
Het |
Fcer1a |
A |
G |
1: 173,050,340 (GRCm39) |
S61P |
possibly damaging |
Het |
Fyb2 |
A |
T |
4: 104,867,656 (GRCm39) |
D669V |
probably benign |
Het |
Herc2 |
G |
T |
7: 55,862,574 (GRCm39) |
C4081F |
probably damaging |
Het |
Hexim1 |
T |
C |
11: 103,008,091 (GRCm39) |
L115P |
probably benign |
Het |
Kat2a |
T |
G |
11: 100,602,967 (GRCm39) |
Q88H |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 102,906,977 (GRCm39) |
Y1581C |
probably damaging |
Het |
Ltbp4 |
T |
G |
7: 27,028,188 (GRCm39) |
D323A |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,581,876 (GRCm39) |
I115K |
probably damaging |
Het |
Nudt9 |
A |
G |
5: 104,209,562 (GRCm39) |
D271G |
probably damaging |
Het |
Or2a54 |
T |
A |
6: 43,092,907 (GRCm39) |
V77D |
probably damaging |
Het |
Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
Pcdha5 |
T |
C |
18: 37,093,925 (GRCm39) |
S145P |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,501,046 (GRCm39) |
E104G |
probably benign |
Het |
Rho |
T |
C |
6: 115,910,854 (GRCm39) |
I133T |
possibly damaging |
Het |
Sall3 |
G |
T |
18: 81,014,721 (GRCm39) |
T997K |
probably damaging |
Het |
Scn8a |
A |
T |
15: 100,908,896 (GRCm39) |
|
probably null |
Het |
Sfxn1 |
T |
A |
13: 54,260,583 (GRCm39) |
H310Q |
probably benign |
Het |
Slc25a18 |
A |
G |
6: 120,765,215 (GRCm39) |
D92G |
probably damaging |
Het |
Slc26a9 |
T |
C |
1: 131,689,523 (GRCm39) |
I490T |
probably benign |
Het |
Terf1 |
T |
C |
1: 15,908,460 (GRCm39) |
V351A |
probably benign |
Het |
Thsd7b |
A |
G |
1: 130,087,451 (GRCm39) |
|
probably null |
Het |
Trgj2 |
A |
G |
13: 19,495,426 (GRCm39) |
|
probably benign |
Het |
Tti1 |
A |
T |
2: 157,824,220 (GRCm39) |
C1078S |
probably benign |
Het |
Ttll3 |
A |
G |
6: 113,375,993 (GRCm39) |
|
probably benign |
Het |
Tubb1 |
A |
C |
2: 174,299,187 (GRCm39) |
T290P |
probably damaging |
Het |
Ugt2b35 |
G |
T |
5: 87,155,247 (GRCm39) |
D361Y |
probably damaging |
Het |
Zc2hc1c |
T |
C |
12: 85,337,446 (GRCm39) |
S368P |
probably 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 |
|
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 |
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'- GAGGTCATATTTGGAATGATGCATG -3'
(R):5'- TGGCAAGTCCTGTTATCTCATAC -3'
Sequencing Primer
(F):5'- GAATGATGCATGTGTCCCCACTG -3'
(R):5'- GCAAGTCCTGTTATCTCATACTATTG -3'
|
Posted On |
2018-08-01 |