Incidental Mutation 'R0560:Fam161b'
ID |
45840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam161b
|
Ensembl Gene |
ENSMUSG00000021234 |
Gene Name |
family with sequence similarity 161, member B |
Synonyms |
9830169C18Rik |
MMRRC Submission |
038752-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R0560 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
84392083-84408607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84404492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 63
(D63N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021659]
[ENSMUST00000021661]
[ENSMUST00000065536]
[ENSMUST00000110276]
[ENSMUST00000110278]
[ENSMUST00000152913]
|
AlphaFold |
Q8CB59 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021659
AA Change: D63N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021659 Gene: ENSMUSG00000021234 AA Change: D63N
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 damaging
Transcript: ENSMUST00000065536
AA Change: D63N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000070407 Gene: ENSMUSG00000021234 AA Change: D63N
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: ENSMUST00000153450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126752
|
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 |
|
Meta Mutation Damage Score |
0.1066 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (26/26) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
C |
12: 8,055,101 (GRCm39) |
Y1334H |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,926,706 (GRCm39) |
T159A |
possibly damaging |
Het |
Asb18 |
A |
C |
1: 89,942,250 (GRCm39) |
V17G |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,413,460 (GRCm39) |
K284E |
probably benign |
Het |
Bspry |
A |
G |
4: 62,404,686 (GRCm39) |
R161G |
probably damaging |
Het |
Ccdc138 |
A |
G |
10: 58,411,539 (GRCm39) |
T636A |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,433,491 (GRCm39) |
W1140R |
probably damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,857,936 (GRCm39) |
T479A |
probably damaging |
Het |
Dele1 |
T |
A |
18: 38,387,551 (GRCm39) |
L230Q |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,753,305 (GRCm39) |
S434P |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,122,035 (GRCm39) |
V611A |
probably benign |
Het |
Epb41l3 |
T |
G |
17: 69,581,892 (GRCm39) |
|
probably null |
Het |
Gm5422 |
G |
A |
10: 31,125,240 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
Krtcap2 |
T |
C |
3: 89,156,449 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
T |
A |
14: 79,644,290 (GRCm39) |
D199E |
probably damaging |
Het |
Myorg |
G |
A |
4: 41,498,167 (GRCm39) |
R488W |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Ncf2 |
T |
A |
1: 152,697,273 (GRCm39) |
Y47N |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,726 (GRCm39) |
|
probably benign |
Het |
Siglec1 |
G |
T |
2: 130,912,266 (GRCm39) |
T1692N |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,139,092 (GRCm39) |
N284S |
probably benign |
Het |
Slfn3 |
T |
C |
11: 83,103,978 (GRCm39) |
F283S |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,154 (GRCm39) |
F2297S |
possibly damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,058,922 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,780,760 (GRCm39) |
E3957G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGCTCTTGTCTTGGAAGAAGCTC -3'
(R):5'- ACACGCTGTGTTGTTCAGTGCC -3'
Sequencing Primer
(F):5'- TTGGAAGAAGCTCTCCAAGTC -3'
(R):5'- AGACACTGAGCCAGAAGATG -3'
|
Posted On |
2013-06-11 |