Incidental Mutation 'IGL00796:Fam53a'
| ID |
10662 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam53a
|
| Ensembl Gene |
ENSMUSG00000037339 |
| Gene Name |
family with sequence similarity 53, member A |
| Synonyms |
5430419M09Rik, 2410018C17Rik, DNTNP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL00796
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
33757691-33786979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33758171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 317
(D317E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045329]
[ENSMUST00000065119]
[ENSMUST00000065162]
[ENSMUST00000150033]
|
| AlphaFold |
E9PV82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045329
AA Change: D317E
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: D317E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
299 |
2.2e-113 |
PFAM |
|
low complexity region
|
336 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065119
AA Change: D317E
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: D317E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
299 |
2.3e-112 |
PFAM |
|
low complexity region
|
336 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065162
|
| SMART Domains |
Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
299 |
3.1e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150033
|
| SMART Domains |
Protein: ENSMUSP00000117350
Gene: ENSMUSG00000037339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM53
|
1 |
54 |
4e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
A |
G |
3: 138,156,742 (GRCm39) |
T143A |
probably benign |
Het |
| Alk |
T |
A |
17: 72,212,137 (GRCm39) |
N802I |
possibly damaging |
Het |
| Aspn |
A |
G |
13: 49,710,893 (GRCm39) |
I179M |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,945,376 (GRCm39) |
L2506P |
probably damaging |
Het |
| Cacna1f |
T |
A |
X: 7,497,270 (GRCm39) |
D1594E |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,847,271 (GRCm39) |
N1671K |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,250,497 (GRCm39) |
V1706A |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,133,934 (GRCm39) |
|
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,291,959 (GRCm39) |
S1108P |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,618,097 (GRCm39) |
N313D |
probably benign |
Het |
| Itch |
A |
T |
2: 155,051,002 (GRCm39) |
H563L |
probably damaging |
Het |
| Kdm1a |
G |
A |
4: 136,281,558 (GRCm39) |
A651V |
probably damaging |
Het |
| Myb |
T |
G |
10: 21,017,698 (GRCm39) |
Q631P |
probably benign |
Het |
| Myh9 |
A |
T |
15: 77,681,195 (GRCm39) |
|
probably benign |
Het |
| Nars2 |
C |
A |
7: 96,680,786 (GRCm39) |
L319I |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,680,787 (GRCm39) |
L319Q |
probably benign |
Het |
| Pdcl2 |
G |
A |
5: 76,467,022 (GRCm39) |
T57I |
probably damaging |
Het |
| Pde6g |
T |
A |
11: 120,341,390 (GRCm39) |
I17L |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,157,014 (GRCm39) |
M964K |
probably benign |
Het |
| Ssxb2 |
A |
G |
X: 8,324,459 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,509,349 (GRCm39) |
T8A |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,346,364 (GRCm39) |
M1581T |
probably benign |
Het |
|
| Other mutations in Fam53a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02326:Fam53a
|
APN |
5 |
33,757,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Fam53a
|
APN |
5 |
33,765,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Fam53a
|
UTSW |
5 |
33,764,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Fam53a
|
UTSW |
5 |
33,765,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0884:Fam53a
|
UTSW |
5 |
33,758,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4601:Fam53a
|
UTSW |
5 |
33,758,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4808:Fam53a
|
UTSW |
5 |
33,765,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5311:Fam53a
|
UTSW |
5 |
33,765,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Fam53a
|
UTSW |
5 |
33,758,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Fam53a
|
UTSW |
5 |
33,765,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6645:Fam53a
|
UTSW |
5 |
33,758,128 (GRCm39) |
missense |
probably benign |
|
|
R6681:Fam53a
|
UTSW |
5 |
33,765,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6814:Fam53a
|
UTSW |
5 |
33,767,829 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7542:Fam53a
|
UTSW |
5 |
33,764,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Fam53a
|
UTSW |
5 |
33,767,781 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Fam53a
|
UTSW |
5 |
33,765,161 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2012-12-06 |
Incidental Mutation