Incidental Mutation 'IGL02670:Fam161b'
| ID |
302890 |
| 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 # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84392083-84408607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84404368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 104
(D104G)
|
| 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: D104G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234
AA Change: D104G
| 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: D104G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234
AA Change: D104G
| 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: ENSMUST00000126752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153450
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
| Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
| Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
| Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
| L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
| Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
| Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
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 |
|
IGL00905:Fam161b
|
APN |
12 |
84,404,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation