Incidental Mutation 'IGL00905:Fam161b'
ID |
28700 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam161b
|
Ensembl Gene |
ENSMUSG00000021234 |
Gene Name |
family with sequence similarity 161, member B |
Synonyms |
9830169C18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL00905
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
84392083-84408607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84404459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 74
(V74I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021659]
[ENSMUST00000021661]
[ENSMUST00000065536]
[ENSMUST00000110276]
[ENSMUST00000110278]
[ENSMUST00000152913]
|
AlphaFold |
Q8CB59 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021659
AA Change: V74I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000021659 Gene: ENSMUSG00000021234 AA Change: V74I
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
65 |
N/A |
INTRINSIC |
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
Pfam:UPF0564
|
168 |
535 |
5.3e-100 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021661
|
SMART Domains |
Protein: ENSMUSP00000021661 Gene: ENSMUSG00000021235
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
Pfam:FAD_binding_3
|
195 |
328 |
3.9e-8 |
PFAM |
Pfam:FAD_binding_3
|
334 |
435 |
1.3e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065536
AA Change: V74I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000070407 Gene: ENSMUSG00000021234 AA Change: V74I
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
65 |
N/A |
INTRINSIC |
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
Pfam:UPF0564
|
168 |
535 |
8.3e-112 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110276
|
SMART Domains |
Protein: ENSMUSP00000105905 Gene: ENSMUSG00000021235
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
Pfam:FAD_binding_3
|
195 |
328 |
5.1e-8 |
PFAM |
Pfam:FAD_binding_3
|
334 |
435 |
1.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110278
|
SMART Domains |
Protein: ENSMUSP00000105907 Gene: ENSMUSG00000021235
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
Pfam:FAD_binding_3
|
195 |
328 |
6.8e-8 |
PFAM |
Pfam:FAD_binding_3
|
334 |
410 |
1.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124257
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150391
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133230
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145522
|
SMART Domains |
Protein: ENSMUSP00000117609 Gene: ENSMUSG00000021235
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SCOP:d1foha5
|
35 |
167 |
2e-6 |
SMART |
PDB:4K22|B
|
90 |
156 |
3e-8 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152913
|
SMART Domains |
Protein: ENSMUSP00000115676 Gene: ENSMUSG00000021235
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SCOP:d1foha5
|
39 |
269 |
1e-10 |
SMART |
PDB:4K22|B
|
94 |
274 |
1e-20 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
T |
C |
7: 100,949,373 (GRCm39) |
E58G |
probably damaging |
Het |
D130040H23Rik |
A |
T |
8: 69,753,422 (GRCm39) |
K16I |
possibly damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,055,332 (GRCm39) |
T602A |
possibly damaging |
Het |
Grk1 |
A |
G |
8: 13,466,068 (GRCm39) |
E504G |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,189,744 (GRCm39) |
|
probably null |
Het |
Map1s |
A |
G |
8: 71,358,673 (GRCm39) |
|
probably benign |
Het |
Mprip |
T |
C |
11: 59,662,994 (GRCm39) |
V982A |
possibly damaging |
Het |
Or5aq1b |
A |
G |
2: 86,901,563 (GRCm39) |
I305T |
probably benign |
Het |
Or8g19 |
T |
G |
9: 39,056,326 (GRCm39) |
F310C |
probably damaging |
Het |
Phf1 |
A |
T |
17: 27,155,568 (GRCm39) |
R378W |
possibly damaging |
Het |
Pramel25 |
A |
G |
4: 143,521,844 (GRCm39) |
T487A |
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,270,050 (GRCm39) |
D37E |
possibly damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,465,754 (GRCm39) |
S366G |
probably benign |
Het |
Scn5a |
C |
A |
9: 119,365,567 (GRCm39) |
W360L |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,936,839 (GRCm39) |
F398S |
probably damaging |
Het |
Slc25a47 |
C |
A |
12: 108,821,314 (GRCm39) |
T141K |
probably benign |
Het |
Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
Tango6 |
G |
T |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
Tmem231 |
A |
T |
8: 112,645,072 (GRCm39) |
|
probably benign |
Het |
Tnr |
G |
A |
1: 159,679,752 (GRCm39) |
R242Q |
probably benign |
Het |
Usp5 |
G |
A |
6: 124,792,576 (GRCm39) |
P821S |
probably damaging |
Het |
Utp11 |
G |
T |
4: 124,577,586 (GRCm39) |
P63Q |
probably damaging |
Het |
Vmn1r6 |
T |
A |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
|
Other mutations in Fam161b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00540:Fam161b
|
APN |
12 |
84,408,525 (GRCm39) |
unclassified |
probably benign |
|
IGL00900:Fam161b
|
APN |
12 |
84,402,743 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01123:Fam161b
|
APN |
12 |
84,404,438 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02156:Fam161b
|
APN |
12 |
84,401,527 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02630:Fam161b
|
APN |
12 |
84,400,688 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02670:Fam161b
|
APN |
12 |
84,404,368 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03160:Fam161b
|
APN |
12 |
84,400,599 (GRCm39) |
missense |
probably benign |
0.05 |
R0560:Fam161b
|
UTSW |
12 |
84,404,492 (GRCm39) |
missense |
probably damaging |
0.96 |
R0569:Fam161b
|
UTSW |
12 |
84,395,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Fam161b
|
UTSW |
12 |
84,395,552 (GRCm39) |
splice site |
probably benign |
|
R2070:Fam161b
|
UTSW |
12 |
84,403,202 (GRCm39) |
missense |
probably benign |
0.00 |
R3784:Fam161b
|
UTSW |
12 |
84,408,464 (GRCm39) |
critical splice donor site |
probably null |
|
R3786:Fam161b
|
UTSW |
12 |
84,408,464 (GRCm39) |
critical splice donor site |
probably null |
|
R4697:Fam161b
|
UTSW |
12 |
84,395,332 (GRCm39) |
unclassified |
probably benign |
|
R5247:Fam161b
|
UTSW |
12 |
84,404,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R5390:Fam161b
|
UTSW |
12 |
84,395,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R5668:Fam161b
|
UTSW |
12 |
84,403,124 (GRCm39) |
missense |
probably damaging |
0.96 |
R6891:Fam161b
|
UTSW |
12 |
84,401,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R7189:Fam161b
|
UTSW |
12 |
84,395,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R7410:Fam161b
|
UTSW |
12 |
84,404,575 (GRCm39) |
missense |
probably benign |
0.04 |
R7514:Fam161b
|
UTSW |
12 |
84,404,512 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8035:Fam161b
|
UTSW |
12 |
84,395,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R8219:Fam161b
|
UTSW |
12 |
84,393,648 (GRCm39) |
missense |
probably benign |
0.00 |
R8428:Fam161b
|
UTSW |
12 |
84,404,369 (GRCm39) |
missense |
probably benign |
0.00 |
R8921:Fam161b
|
UTSW |
12 |
84,395,056 (GRCm39) |
missense |
probably benign |
0.02 |
R9638:Fam161b
|
UTSW |
12 |
84,403,187 (GRCm39) |
missense |
probably benign |
0.00 |
X0019:Fam161b
|
UTSW |
12 |
84,401,747 (GRCm39) |
missense |
probably benign |
0.30 |
Z1176:Fam161b
|
UTSW |
12 |
84,402,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-04-17 |