Incidental Mutation 'R2996:Fam43a'
| ID |
257189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam43a
|
| Ensembl Gene |
ENSMUSG00000046546 |
| Gene Name |
family with sequence similarity 43, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R2996 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30418541-30421615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30419838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 141
(T141A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059078]
|
| AlphaFold |
Q8BUP8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059078
AA Change: T141A
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000056555
Gene: ENSMUSG00000046546
AA Change: T141A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID_2
|
69 |
256 |
3e-79 |
PFAM |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
399 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| F5 |
C |
A |
1: 164,010,486 (GRCm39) |
R406S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gtpbp3 |
G |
A |
8: 71,942,140 (GRCm39) |
G125S |
possibly damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,568,931 (GRCm39) |
I30T |
probably benign |
Het |
| Map2k7 |
C |
A |
8: 4,293,775 (GRCm39) |
N138K |
probably benign |
Het |
| Mdc1 |
TGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
TGAGGAGGAGGAGGAGGAGGAGGAGG |
17: 36,158,785 (GRCm39) |
|
probably benign |
Het |
| Mmab |
C |
A |
5: 114,574,555 (GRCm39) |
R184L |
probably damaging |
Het |
| Nsun7 |
T |
A |
5: 66,452,897 (GRCm39) |
H571Q |
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,685,966 (GRCm39) |
Y23H |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,747,124 (GRCm39) |
V13D |
probably damaging |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,459 (GRCm39) |
H213R |
probably damaging |
Het |
|
| Other mutations in Fam43a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01994:Fam43a
|
APN |
16 |
30,419,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02525:Fam43a
|
APN |
16 |
30,419,596 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02970:Fam43a
|
APN |
16 |
30,419,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Fam43a
|
APN |
16 |
30,419,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Fam43a
|
UTSW |
16 |
30,420,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3747:Fam43a
|
UTSW |
16 |
30,420,664 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5614:Fam43a
|
UTSW |
16 |
30,420,490 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5867:Fam43a
|
UTSW |
16 |
30,420,277 (GRCm39) |
missense |
probably benign |
|
|
R8052:Fam43a
|
UTSW |
16 |
30,420,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8199:Fam43a
|
UTSW |
16 |
30,419,586 (GRCm39) |
nonsense |
probably null |
|
|
R8282:Fam43a
|
UTSW |
16 |
30,420,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACACTGTGCTCTACCTGGG -3'
(R):5'- TGAGACGTTTAAACTCTGCCAG -3'
Sequencing Primer
(F):5'- CACTGTGCTCTACCTGGGGAATG -3'
(R):5'- CTCTGCCAGAGCGTTGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation