Incidental Mutation 'IGL01619:Fam72a'
| ID |
92498 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam72a
|
| Ensembl Gene |
ENSMUSG00000055184 |
| Gene Name |
family with sequence similarity 72, member A |
| Synonyms |
2700049P18Rik, P17 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131455641-131467610 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131461650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 112
(I112V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068613]
|
| AlphaFold |
Q8BFZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068613
AA Change: I112V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000068111
Gene: ENSMUSG00000055184
AA Change: I112V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM72
|
5 |
149 |
3.9e-84 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd46 |
T |
C |
15: 36,486,113 (GRCm39) |
T47A |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,656,385 (GRCm39) |
V1465G |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,756 (GRCm39) |
D1657V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,427,814 (GRCm39) |
T170I |
possibly damaging |
Het |
| Cntn6 |
G |
A |
6: 104,705,335 (GRCm39) |
|
probably benign |
Het |
| Def6 |
C |
T |
17: 28,426,838 (GRCm39) |
L8F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,722,441 (GRCm39) |
K1940* |
probably null |
Het |
| Dock10 |
A |
G |
1: 80,612,015 (GRCm39) |
|
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,650,008 (GRCm39) |
W258R |
probably damaging |
Het |
| Ints6l |
G |
T |
X: 55,542,104 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
T |
15: 7,220,643 (GRCm39) |
N1091I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,762,309 (GRCm39) |
I1100T |
possibly damaging |
Het |
| Mrpl40 |
T |
A |
16: 18,691,294 (GRCm39) |
M139L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,351,471 (GRCm39) |
|
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,104,909 (GRCm39) |
T195S |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,992 (GRCm39) |
F791L |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,299,900 (GRCm39) |
|
probably null |
Het |
| Serpinb9e |
A |
G |
13: 33,439,108 (GRCm39) |
K178R |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 59,016,601 (GRCm39) |
S233P |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,204,549 (GRCm39) |
V143M |
possibly damaging |
Het |
| Terb1 |
G |
A |
8: 105,199,646 (GRCm39) |
H433Y |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,520,443 (GRCm39) |
Q164* |
probably null |
Het |
| Trip12 |
C |
A |
1: 84,792,631 (GRCm39) |
R4L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,693,879 (GRCm39) |
P208S |
possibly damaging |
Het |
| Ube2c |
T |
C |
2: 164,613,232 (GRCm39) |
I50T |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,200,775 (GRCm39) |
D1174G |
probably damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,041,997 (GRCm39) |
M387L |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,510,229 (GRCm39) |
N48I |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,490,517 (GRCm39) |
L217P |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,062,414 (GRCm39) |
E129V |
probably damaging |
Het |
|
| Other mutations in Fam72a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0548:Fam72a
|
UTSW |
1 |
131,461,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0943:Fam72a
|
UTSW |
1 |
131,456,517 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1037:Fam72a
|
UTSW |
1 |
131,461,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2508:Fam72a
|
UTSW |
1 |
131,456,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6589:Fam72a
|
UTSW |
1 |
131,461,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Fam72a
|
UTSW |
1 |
131,466,614 (GRCm39) |
nonsense |
probably null |
|
|
R7402:Fam72a
|
UTSW |
1 |
131,466,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Fam72a
|
UTSW |
1 |
131,456,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Fam72a
|
UTSW |
1 |
131,461,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Fam72a
|
UTSW |
1 |
131,461,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Fam72a
|
UTSW |
1 |
131,458,461 (GRCm39) |
nonsense |
probably null |
|
|
R8861:Fam72a
|
UTSW |
1 |
131,466,656 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8932:Fam72a
|
UTSW |
1 |
131,456,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-09 |
Incidental Mutation