Incidental Mutation 'IGL01131:Fam53b'
| ID |
51619 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam53b
|
| Ensembl Gene |
ENSMUSG00000030956 |
| Gene Name |
family with sequence similarity 53, member B |
| Synonyms |
A930008G19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
132313811-132415615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132317511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 377
(E377G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065371]
[ENSMUST00000097998]
[ENSMUST00000097999]
[ENSMUST00000106168]
[ENSMUST00000106169]
[ENSMUST00000124096]
|
| AlphaFold |
Q8BGR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065371
AA Change: E377G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070763
Gene: ENSMUSG00000030956
AA Change: E377G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
303 |
6.4e-121 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097998
|
| SMART Domains |
Protein: ENSMUSP00000095607
Gene: ENSMUSG00000030956
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
57 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097999
AA Change: E377G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095608
Gene: ENSMUSG00000030956
AA Change: E377G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
303 |
6.4e-121 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106168
AA Change: E347G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101774
Gene: ENSMUSG00000030956
AA Change: E347G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
273 |
1.2e-112 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106169
AA Change: E377G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101775
Gene: ENSMUSG00000030956
AA Change: E377G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
303 |
2.3e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| 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 |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
| Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
| Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
| Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
| Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
| Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
| Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in Fam53b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4402001:Fam53b
|
UTSW |
7 |
132,361,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Fam53b
|
UTSW |
7 |
132,317,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3712:Fam53b
|
UTSW |
7 |
132,361,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Fam53b
|
UTSW |
7 |
132,317,730 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5102:Fam53b
|
UTSW |
7 |
132,317,684 (GRCm39) |
nonsense |
probably null |
|
|
R5122:Fam53b
|
UTSW |
7 |
132,380,991 (GRCm39) |
start gained |
probably benign |
|
|
R5700:Fam53b
|
UTSW |
7 |
132,361,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Fam53b
|
UTSW |
7 |
132,361,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Fam53b
|
UTSW |
7 |
132,317,445 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7075:Fam53b
|
UTSW |
7 |
132,361,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7125:Fam53b
|
UTSW |
7 |
132,373,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Fam53b
|
UTSW |
7 |
132,361,390 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8141:Fam53b
|
UTSW |
7 |
132,361,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Fam53b
|
UTSW |
7 |
132,361,740 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-06-21 |
Incidental Mutation