Incidental Mutation 'IGL01542:Fam228b'
| ID |
90196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam228b
|
| Ensembl Gene |
ENSMUSG00000050545 |
| Gene Name |
family with sequence similarity 228, member B |
| Synonyms |
A830093I24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL01542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
4789888-4819259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4813055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 105
(I105N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053458]
[ENSMUST00000218199]
[ENSMUST00000218575]
[ENSMUST00000219898]
|
| AlphaFold |
Q497Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053458
AA Change: I105N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101885
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218199
AA Change: I105N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218575
AA Change: I105N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218905
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219898
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,187 (GRCm39) |
M316V |
probably benign |
Het |
| Chd7 |
T |
G |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,379,322 (GRCm39) |
E538G |
possibly damaging |
Het |
| Clpb |
G |
A |
7: 101,436,712 (GRCm39) |
V596I |
probably damaging |
Het |
| Col9a3 |
T |
C |
2: 180,251,109 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,060,020 (GRCm39) |
|
probably null |
Het |
| Drd4 |
T |
C |
7: 140,873,744 (GRCm39) |
|
probably benign |
Het |
| Gm20939 |
A |
T |
17: 95,181,721 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,655 (GRCm39) |
V132A |
probably benign |
Het |
| Kpna2 |
T |
A |
11: 106,882,027 (GRCm39) |
E266D |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,347,892 (GRCm39) |
E977G |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,392 (GRCm39) |
T142A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,800,372 (GRCm39) |
L919P |
probably damaging |
Het |
| Nhlrc1 |
A |
T |
13: 47,167,607 (GRCm39) |
F217I |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,745,901 (GRCm39) |
F65S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,070 (GRCm39) |
I468V |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,496 (GRCm39) |
|
probably null |
Het |
| Sctr |
A |
G |
1: 119,972,499 (GRCm39) |
|
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,278 (GRCm39) |
V126A |
probably benign |
Het |
| Smad3 |
C |
T |
9: 63,562,868 (GRCm39) |
R214Q |
probably damaging |
Het |
| Spmip3 |
A |
G |
1: 177,570,950 (GRCm39) |
T95A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,013,423 (GRCm39) |
M1219T |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,466,222 (GRCm39) |
N75K |
possibly damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,846 (GRCm39) |
S365P |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,314 (GRCm39) |
F153L |
probably damaging |
Het |
|
| Other mutations in Fam228b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Fam228b
|
APN |
12 |
4,814,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02431:Fam228b
|
APN |
12 |
4,812,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Fam228b
|
UTSW |
12 |
4,798,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Fam228b
|
UTSW |
12 |
4,798,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Fam228b
|
UTSW |
12 |
4,798,351 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0416:Fam228b
|
UTSW |
12 |
4,812,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1860:Fam228b
|
UTSW |
12 |
4,798,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Fam228b
|
UTSW |
12 |
4,813,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Fam228b
|
UTSW |
12 |
4,813,083 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9382:Fam228b
|
UTSW |
12 |
4,798,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Fam228b
|
UTSW |
12 |
4,798,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation