Incidental Mutation 'IGL03022:Fam110b'
| ID |
408010 |
| 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 # |
IGL03022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
5644009-5801101 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5799448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 289
(M289V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054857]
[ENSMUST00000108380]
[ENSMUST00000156582]
[ENSMUST00000171403]
|
| AlphaFold |
Q8C739 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054857
AA Change: M289V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062734
Gene: ENSMUSG00000049119
AA Change: M289V
| 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: ENSMUST00000108380
AA Change: M289V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104017
Gene: ENSMUSG00000049119
AA Change: M289V
| 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 |
probably benign
Transcript: ENSMUST00000156582
|
| SMART Domains |
Protein: ENSMUSP00000122351
Gene: ENSMUSG00000049119
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM110_N
|
11 |
87 |
4e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171403
AA Change: M289V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127942
Gene: ENSMUSG00000049119
AA Change: M289V
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
| Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
| Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
| Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
| Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
| Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
| Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
| Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
| Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
| Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam110b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01082:Fam110b
|
APN |
4 |
5,799,461 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01981:Fam110b
|
APN |
4 |
5,799,481 (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 |
2016-08-02 |
Incidental Mutation