Incidental Mutation 'IGL01554:Fam83b'
ID |
90663 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam83b
|
Ensembl Gene |
ENSMUSG00000032358 |
Gene Name |
family with sequence similarity 83, member B |
Synonyms |
C530008M07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL01554
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76409403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 241
(Y241F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098546]
[ENSMUST00000183437]
|
AlphaFold |
Q0VBM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098546
AA Change: Y241F
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096146 Gene: ENSMUSG00000032358 AA Change: Y241F
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
12 |
282 |
5.6e-109 |
PFAM |
Pfam:PLDc_2
|
139 |
277 |
2.4e-12 |
PFAM |
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
low complexity region
|
747 |
760 |
N/A |
INTRINSIC |
low complexity region
|
826 |
846 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183437
AA Change: Y241F
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139354 Gene: ENSMUSG00000032358 AA Change: Y241F
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
7 |
283 |
2.8e-111 |
PFAM |
Pfam:PLDc_2
|
139 |
277 |
2.4e-9 |
PFAM |
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
low complexity region
|
747 |
760 |
N/A |
INTRINSIC |
low complexity region
|
826 |
846 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
Entrep3 |
A |
G |
3: 89,092,888 (GRCm39) |
T257A |
probably damaging |
Het |
Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
Ext2 |
A |
C |
2: 93,642,294 (GRCm39) |
L192V |
probably damaging |
Het |
Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
Hspa1a |
G |
T |
17: 35,189,500 (GRCm39) |
P468T |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
Opn5 |
A |
G |
17: 42,918,089 (GRCm39) |
S58P |
probably damaging |
Het |
Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,127,502 (GRCm39) |
N1055D |
probably damaging |
Het |
Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
Tas2r130 |
C |
T |
6: 131,607,046 (GRCm39) |
A250T |
probably benign |
Het |
Tgs1 |
A |
G |
4: 3,593,632 (GRCm39) |
S507G |
probably null |
Het |
Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
possibly damaging |
Het |
|
Other mutations in Fam83b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Fam83b
|
APN |
9 |
76,398,260 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01694:Fam83b
|
APN |
9 |
76,398,272 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02009:Fam83b
|
APN |
9 |
76,399,604 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02531:Fam83b
|
APN |
9 |
76,399,282 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03328:Fam83b
|
APN |
9 |
76,400,324 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4581001:Fam83b
|
UTSW |
9 |
76,398,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Fam83b
|
UTSW |
9 |
76,400,108 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0469:Fam83b
|
UTSW |
9 |
76,400,108 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0510:Fam83b
|
UTSW |
9 |
76,400,108 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0732:Fam83b
|
UTSW |
9 |
76,400,210 (GRCm39) |
nonsense |
probably null |
|
R0946:Fam83b
|
UTSW |
9 |
76,398,679 (GRCm39) |
missense |
probably damaging |
0.96 |
R0961:Fam83b
|
UTSW |
9 |
76,398,577 (GRCm39) |
missense |
probably damaging |
0.97 |
R1101:Fam83b
|
UTSW |
9 |
76,452,952 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1200:Fam83b
|
UTSW |
9 |
76,399,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1248:Fam83b
|
UTSW |
9 |
76,410,358 (GRCm39) |
missense |
probably benign |
0.35 |
R1420:Fam83b
|
UTSW |
9 |
76,399,894 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1429:Fam83b
|
UTSW |
9 |
76,399,859 (GRCm39) |
missense |
probably benign |
|
R1939:Fam83b
|
UTSW |
9 |
76,400,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Fam83b
|
UTSW |
9 |
76,399,304 (GRCm39) |
missense |
probably benign |
|
R2102:Fam83b
|
UTSW |
9 |
76,399,987 (GRCm39) |
missense |
probably damaging |
0.96 |
R2134:Fam83b
|
UTSW |
9 |
76,398,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R2398:Fam83b
|
UTSW |
9 |
76,409,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R2878:Fam83b
|
UTSW |
9 |
76,398,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R4092:Fam83b
|
UTSW |
9 |
76,398,943 (GRCm39) |
missense |
probably benign |
0.24 |
R4204:Fam83b
|
UTSW |
9 |
76,410,335 (GRCm39) |
missense |
probably benign |
0.09 |
R4537:Fam83b
|
UTSW |
9 |
76,399,424 (GRCm39) |
missense |
probably benign |
0.10 |
R4920:Fam83b
|
UTSW |
9 |
76,399,150 (GRCm39) |
missense |
probably benign |
|
R5456:Fam83b
|
UTSW |
9 |
76,399,877 (GRCm39) |
missense |
probably benign |
|
R5473:Fam83b
|
UTSW |
9 |
76,398,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R5488:Fam83b
|
UTSW |
9 |
76,452,881 (GRCm39) |
missense |
probably benign |
0.05 |
R5489:Fam83b
|
UTSW |
9 |
76,452,881 (GRCm39) |
missense |
probably benign |
0.05 |
R5876:Fam83b
|
UTSW |
9 |
76,399,132 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6150:Fam83b
|
UTSW |
9 |
76,399,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Fam83b
|
UTSW |
9 |
76,400,189 (GRCm39) |
missense |
probably benign |
0.31 |
R6468:Fam83b
|
UTSW |
9 |
76,409,413 (GRCm39) |
nonsense |
probably null |
|
R6912:Fam83b
|
UTSW |
9 |
76,398,214 (GRCm39) |
missense |
probably damaging |
0.99 |
R7022:Fam83b
|
UTSW |
9 |
76,409,394 (GRCm39) |
frame shift |
probably null |
|
R7073:Fam83b
|
UTSW |
9 |
76,453,031 (GRCm39) |
missense |
probably benign |
0.18 |
R7356:Fam83b
|
UTSW |
9 |
76,400,135 (GRCm39) |
missense |
probably benign |
0.05 |
R7665:Fam83b
|
UTSW |
9 |
76,398,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R7762:Fam83b
|
UTSW |
9 |
76,399,714 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7790:Fam83b
|
UTSW |
9 |
76,399,330 (GRCm39) |
missense |
probably benign |
0.01 |
R7869:Fam83b
|
UTSW |
9 |
76,399,426 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7879:Fam83b
|
UTSW |
9 |
76,399,737 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7957:Fam83b
|
UTSW |
9 |
76,399,267 (GRCm39) |
missense |
probably benign |
0.00 |
R8067:Fam83b
|
UTSW |
9 |
76,398,380 (GRCm39) |
missense |
probably benign |
|
R8983:Fam83b
|
UTSW |
9 |
76,400,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R9361:Fam83b
|
UTSW |
9 |
76,400,076 (GRCm39) |
missense |
probably benign |
0.03 |
R9405:Fam83b
|
UTSW |
9 |
76,398,703 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9475:Fam83b
|
UTSW |
9 |
76,399,085 (GRCm39) |
missense |
probably benign |
0.31 |
R9656:Fam83b
|
UTSW |
9 |
76,452,863 (GRCm39) |
missense |
probably benign |
0.02 |
R9690:Fam83b
|
UTSW |
9 |
76,398,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-12-09 |