Incidental Mutation 'IGL00567:Fam162b'
| ID |
13462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam162b
|
| Ensembl Gene |
ENSMUSG00000019909 |
| Gene Name |
family with sequence similarity 162, member B |
| Synonyms |
9430073N08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL00567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
51461512-51466613 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51466390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 43
(G43E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020064]
|
| AlphaFold |
Q9CX19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020064
AA Change: G43E
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020064
Gene: ENSMUSG00000019909
AA Change: G43E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1075
|
15 |
154 |
3.8e-56 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,990,747 (GRCm39) |
N4010K |
probably benign |
Het |
| Atm |
G |
T |
9: 53,414,416 (GRCm39) |
Y891* |
probably null |
Het |
| Cfap70 |
C |
T |
14: 20,444,748 (GRCm39) |
V1083I |
probably benign |
Het |
| Col5a2 |
T |
A |
1: 45,432,037 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,407,733 (GRCm39) |
S360P |
probably damaging |
Het |
| Gata6 |
A |
G |
18: 11,084,330 (GRCm39) |
M540V |
possibly damaging |
Het |
| Gnl3l |
A |
T |
X: 149,777,242 (GRCm39) |
|
probably null |
Het |
| Mark2 |
T |
C |
19: 7,318,549 (GRCm39) |
E13G |
possibly damaging |
Het |
| Myo16 |
A |
C |
8: 10,512,154 (GRCm39) |
I778L |
probably damaging |
Het |
| Postn |
T |
C |
3: 54,291,944 (GRCm39) |
V715A |
probably benign |
Het |
| Prl3c1 |
A |
G |
13: 27,384,695 (GRCm39) |
E68G |
possibly damaging |
Het |
| Ptch1 |
C |
A |
13: 63,674,989 (GRCm39) |
S741I |
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,228 (GRCm39) |
E83G |
possibly damaging |
Het |
| Scyl2 |
C |
T |
10: 89,493,671 (GRCm39) |
|
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,978,415 (GRCm39) |
D83G |
probably benign |
Het |
| Ube2l6 |
C |
T |
2: 84,639,382 (GRCm39) |
P115L |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,401,933 (GRCm39) |
W233R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,697,114 (GRCm39) |
T5191A |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,059,896 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,414,539 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam162b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02948:Fam162b
|
APN |
10 |
51,463,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0709:Fam162b
|
UTSW |
10 |
51,463,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Fam162b
|
UTSW |
10 |
51,466,439 (GRCm39) |
missense |
probably benign |
|
|
R1185:Fam162b
|
UTSW |
10 |
51,466,439 (GRCm39) |
missense |
probably benign |
|
|
R1185:Fam162b
|
UTSW |
10 |
51,466,439 (GRCm39) |
missense |
probably benign |
|
|
R1505:Fam162b
|
UTSW |
10 |
51,463,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Fam162b
|
UTSW |
10 |
51,463,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Fam162b
|
UTSW |
10 |
51,466,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2401:Fam162b
|
UTSW |
10 |
51,463,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6059:Fam162b
|
UTSW |
10 |
51,466,403 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6196:Fam162b
|
UTSW |
10 |
51,463,506 (GRCm39) |
splice site |
probably null |
|
|
R6284:Fam162b
|
UTSW |
10 |
51,461,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6625:Fam162b
|
UTSW |
10 |
51,466,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Fam162b
|
UTSW |
10 |
51,466,282 (GRCm39) |
splice site |
probably null |
|
|
R7380:Fam162b
|
UTSW |
10 |
51,466,572 (GRCm39) |
start gained |
probably benign |
|
|
R8945:Fam162b
|
UTSW |
10 |
51,466,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9415:Fam162b
|
UTSW |
10 |
51,466,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation