Incidental Mutation 'R1235:Fam53c'
ID |
152413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam53c
|
Ensembl Gene |
ENSMUSG00000034300 |
Gene Name |
family with sequence similarity 53, member C |
Synonyms |
2810012G03Rik |
MMRRC Submission |
039303-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R1235 (G1)
|
Quality Score |
115 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
34891959-34906813 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34901311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 76
(L76Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049281]
[ENSMUST00000097622]
|
AlphaFold |
Q8BXQ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049281
AA Change: L76Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037034 Gene: ENSMUSG00000034300 AA Change: L76Q
Domain | Start | End | E-Value | Type |
Pfam:FAM53
|
1 |
307 |
3.9e-87 |
PFAM |
low complexity region
|
334 |
346 |
N/A |
INTRINSIC |
low complexity region
|
348 |
370 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097622
AA Change: L76Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095226 Gene: ENSMUSG00000034300 AA Change: L76Q
Domain | Start | End | E-Value | Type |
Pfam:FAM53
|
1 |
307 |
1.9e-87 |
PFAM |
low complexity region
|
334 |
346 |
N/A |
INTRINSIC |
low complexity region
|
348 |
370 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsg |
T |
C |
11: 109,424,933 (GRCm39) |
|
probably null |
Het |
Col6a1 |
C |
A |
10: 76,548,158 (GRCm39) |
A633S |
unknown |
Het |
Dnajb3 |
C |
T |
1: 88,133,201 (GRCm39) |
R67H |
probably benign |
Het |
Gys2 |
A |
T |
6: 142,376,019 (GRCm39) |
Y548N |
probably damaging |
Het |
Kcnh3 |
T |
A |
15: 99,139,984 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,354,380 (GRCm39) |
V483I |
probably damaging |
Het |
Myom3 |
A |
T |
4: 135,516,854 (GRCm39) |
Y808F |
probably benign |
Het |
Nmur1 |
C |
T |
1: 86,314,415 (GRCm39) |
G307S |
probably damaging |
Het |
Or8w1 |
T |
G |
2: 87,465,159 (GRCm39) |
|
probably null |
Het |
Pcdhb13 |
T |
C |
18: 37,578,012 (GRCm39) |
*797Q |
probably null |
Het |
Plcb4 |
G |
A |
2: 135,814,868 (GRCm39) |
G719R |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,082,883 (GRCm39) |
T143S |
probably benign |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Sema5a |
A |
T |
15: 32,609,372 (GRCm39) |
Y426F |
probably benign |
Het |
Trpc7 |
G |
T |
13: 57,035,352 (GRCm39) |
H194N |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,741 (GRCm39) |
F165I |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
Zp2 |
A |
T |
7: 119,737,566 (GRCm39) |
F240I |
possibly damaging |
Het |
|
Other mutations in Fam53c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02720:Fam53c
|
APN |
18 |
34,903,720 (GRCm39) |
missense |
probably damaging |
1.00 |
beebee
|
UTSW |
18 |
34,895,523 (GRCm39) |
splice site |
probably null |
|
R3689:Fam53c
|
UTSW |
18 |
34,903,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R4691:Fam53c
|
UTSW |
18 |
34,901,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R4692:Fam53c
|
UTSW |
18 |
34,901,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R5278:Fam53c
|
UTSW |
18 |
34,895,671 (GRCm39) |
start gained |
probably benign |
|
R6118:Fam53c
|
UTSW |
18 |
34,901,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R7110:Fam53c
|
UTSW |
18 |
34,895,523 (GRCm39) |
splice site |
probably null |
|
R8445:Fam53c
|
UTSW |
18 |
34,901,368 (GRCm39) |
missense |
probably benign |
0.00 |
R8500:Fam53c
|
UTSW |
18 |
34,901,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R8962:Fam53c
|
UTSW |
18 |
34,901,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R9272:Fam53c
|
UTSW |
18 |
34,895,774 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Fam53c
|
UTSW |
18 |
34,903,903 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGGGAAGGTTAGGTTGTCCGTAGA -3'
(R):5'- TCCACAGGCACCGAGAGTGA -3'
Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- AGCGGCAGTGCCTCTTG -3'
|
Posted On |
2014-01-29 |