Incidental Mutation 'IGL00540:Fam161b'
| ID |
28685 |
| 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 # |
IGL00540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84392083-84408607 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 84408525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021659]
[ENSMUST00000021661]
[ENSMUST00000065536]
[ENSMUST00000110276]
[ENSMUST00000110278]
[ENSMUST00000152913]
|
| AlphaFold |
Q8CB59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021659
|
| SMART Domains |
Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234
| 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
|
| SMART Domains |
Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234
| 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: ENSMUST00000133230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153450
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150391
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
T |
13: 19,304,776 (GRCm39) |
G398V |
probably damaging |
Het |
| C2cd3 |
T |
G |
7: 100,040,335 (GRCm39) |
S301R |
probably benign |
Het |
| Calr |
G |
A |
8: 85,571,373 (GRCm39) |
P178S |
possibly damaging |
Het |
| Cbll1 |
G |
T |
12: 31,537,940 (GRCm39) |
P271T |
probably damaging |
Het |
| Ccl7 |
A |
T |
11: 81,937,888 (GRCm39) |
D89V |
probably damaging |
Het |
| Cd82 |
T |
A |
2: 93,251,004 (GRCm39) |
I179F |
probably null |
Het |
| Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
| Cenpo |
A |
G |
12: 4,266,685 (GRCm39) |
V141A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,150,657 (GRCm39) |
V367A |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,051,644 (GRCm39) |
P268S |
probably damaging |
Het |
| Gm5965 |
T |
A |
16: 88,575,228 (GRCm39) |
C134S |
probably damaging |
Het |
| Icam4 |
C |
A |
9: 20,941,382 (GRCm39) |
R174S |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,362,680 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,336,244 (GRCm39) |
K77R |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,291 (GRCm39) |
V207E |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,681,534 (GRCm39) |
N1067S |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,803,113 (GRCm39) |
E856G |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,535,914 (GRCm39) |
Y2890C |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,851 (GRCm39) |
S604P |
probably damaging |
Het |
| Pelp1 |
A |
T |
11: 70,285,638 (GRCm39) |
D743E |
possibly damaging |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Rab25 |
A |
G |
3: 88,452,546 (GRCm39) |
S21P |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,724,058 (GRCm39) |
I374T |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Ssr1 |
T |
C |
13: 38,167,407 (GRCm39) |
D252G |
probably damaging |
Het |
| Stx1b |
T |
C |
7: 127,409,870 (GRCm39) |
E19G |
probably damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,992,139 (GRCm39) |
E607V |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,378,230 (GRCm39) |
I311M |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,761,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam161b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
Incidental Mutation