Incidental Mutation 'IGL01082:Fam110b'
ID |
50867 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam110b
|
Ensembl Gene |
ENSMUSG00000049119 |
Gene Name |
family with sequence similarity 110, member B |
Synonyms |
1700012H17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
IGL01082
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
5644009-5801101 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5799461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 293
(A293V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054857]
[ENSMUST00000108380]
[ENSMUST00000171403]
[ENSMUST00000156582]
|
AlphaFold |
Q8C739 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054857
AA Change: A293V
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000062734 Gene: ENSMUSG00000049119 AA Change: A293V
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
11 |
118 |
1.6e-56 |
PFAM |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
215 |
233 |
N/A |
INTRINSIC |
Pfam:FAM110_C
|
247 |
358 |
2.2e-50 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108380
AA Change: A293V
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104017 Gene: ENSMUSG00000049119 AA Change: A293V
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
13 |
118 |
4.8e-50 |
PFAM |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
215 |
233 |
N/A |
INTRINSIC |
Pfam:FAM110_C
|
249 |
357 |
1.5e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126564
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145365
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171403
AA Change: A293V
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127942 Gene: ENSMUSG00000049119 AA Change: A293V
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
11 |
118 |
1.6e-56 |
PFAM |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
215 |
233 |
N/A |
INTRINSIC |
Pfam:FAM110_C
|
247 |
358 |
2.2e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156582
|
SMART Domains |
Protein: ENSMUSP00000122351 Gene: ENSMUSG00000049119
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
11 |
87 |
4e-45 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,353,273 (GRCm39) |
S723F |
probably damaging |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Ccdc116 |
A |
G |
16: 16,959,856 (GRCm39) |
S278P |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,411,465 (GRCm39) |
|
probably benign |
Het |
Cftr |
T |
C |
6: 18,226,102 (GRCm39) |
V350A |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,176,849 (GRCm39) |
N399K |
probably damaging |
Het |
Eif3d |
T |
C |
15: 77,843,943 (GRCm39) |
T468A |
probably damaging |
Het |
Flrt1 |
T |
C |
19: 7,073,339 (GRCm39) |
T403A |
probably benign |
Het |
H3c6 |
A |
G |
13: 23,746,548 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
A |
17: 25,267,429 (GRCm39) |
V609E |
possibly damaging |
Het |
Klb |
G |
A |
5: 65,533,283 (GRCm39) |
V531I |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,707,372 (GRCm39) |
|
probably null |
Het |
Mcm2 |
A |
G |
6: 88,864,859 (GRCm39) |
V539A |
probably benign |
Het |
Myb |
A |
G |
10: 21,028,843 (GRCm39) |
V85A |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,203,976 (GRCm39) |
E102G |
probably damaging |
Het |
Nr5a2 |
C |
A |
1: 136,773,206 (GRCm39) |
A499S |
probably benign |
Het |
Opa1 |
A |
T |
16: 29,436,933 (GRCm39) |
|
probably benign |
Het |
Or14j5 |
T |
A |
17: 38,161,514 (GRCm39) |
S10R |
probably benign |
Het |
Or4a47 |
A |
T |
2: 89,674,407 (GRCm39) |
|
probably benign |
Het |
Or4c11b |
T |
C |
2: 88,625,637 (GRCm39) |
F304L |
probably benign |
Het |
Pcnx1 |
G |
A |
12: 82,037,372 (GRCm39) |
E1877K |
possibly damaging |
Het |
Sel1l |
A |
G |
12: 91,778,682 (GRCm39) |
V711A |
probably benign |
Het |
Slc22a16 |
A |
G |
10: 40,449,860 (GRCm39) |
T120A |
probably benign |
Het |
Slc26a1 |
G |
T |
5: 108,819,744 (GRCm39) |
T485N |
possibly damaging |
Het |
Sp100 |
T |
C |
1: 85,597,741 (GRCm39) |
V201A |
possibly damaging |
Het |
Spz1 |
T |
G |
13: 92,712,029 (GRCm39) |
K149T |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 37,024,940 (GRCm39) |
S553P |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,254,821 (GRCm39) |
S290P |
probably damaging |
Het |
Tbc1d10c |
A |
G |
19: 4,239,026 (GRCm39) |
Y165H |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,933,584 (GRCm39) |
Q2335K |
probably damaging |
Het |
Trim33 |
T |
C |
3: 103,234,175 (GRCm39) |
I471T |
possibly damaging |
Het |
Vsig10 |
A |
G |
5: 117,472,970 (GRCm39) |
I188V |
probably benign |
Het |
Zfp109 |
A |
T |
7: 23,933,784 (GRCm39) |
L45Q |
probably damaging |
Het |
|
Other mutations in Fam110b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01981:Fam110b
|
APN |
4 |
5,799,481 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03022:Fam110b
|
APN |
4 |
5,799,448 (GRCm39) |
missense |
probably benign |
0.00 |
R1033:Fam110b
|
UTSW |
4 |
5,799,440 (GRCm39) |
missense |
probably benign |
0.06 |
R1127:Fam110b
|
UTSW |
4 |
5,799,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1525:Fam110b
|
UTSW |
4 |
5,799,578 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1824:Fam110b
|
UTSW |
4 |
5,799,029 (GRCm39) |
missense |
probably benign |
0.01 |
R1894:Fam110b
|
UTSW |
4 |
5,798,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R2032:Fam110b
|
UTSW |
4 |
5,799,460 (GRCm39) |
missense |
probably benign |
0.09 |
R4471:Fam110b
|
UTSW |
4 |
5,799,092 (GRCm39) |
missense |
probably benign |
|
R5436:Fam110b
|
UTSW |
4 |
5,799,104 (GRCm39) |
missense |
probably benign |
0.45 |
R5640:Fam110b
|
UTSW |
4 |
5,798,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7291:Fam110b
|
UTSW |
4 |
5,798,895 (GRCm39) |
missense |
probably benign |
0.03 |
R8037:Fam110b
|
UTSW |
4 |
5,799,511 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8515:Fam110b
|
UTSW |
4 |
5,799,380 (GRCm39) |
missense |
probably benign |
0.00 |
R8873:Fam110b
|
UTSW |
4 |
5,799,103 (GRCm39) |
nonsense |
probably null |
|
R9557:Fam110b
|
UTSW |
4 |
5,799,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9740:Fam110b
|
UTSW |
4 |
5,799,070 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2013-06-21 |