Incidental Mutation 'R2416:Fam43b'
| ID |
249001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam43b
|
| Ensembl Gene |
ENSMUSG00000078235 |
| Gene Name |
family with sequence similarity 43, member B |
| Synonyms |
OTTMUSG00000009974 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.603)
|
| Stock # |
R2416 (G1)
|
| Quality Score |
93 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
138121403-138123769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 138122409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 304
(R304G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105032]
|
| AlphaFold |
A2AM80 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000062902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105032
AA Change: R304G
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000100649
Gene: ENSMUSG00000078235
AA Change: R304G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID_2
|
71 |
265 |
3.4e-75 |
PFAM |
|
low complexity region
|
306 |
315 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0639 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
| Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
| Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,795,246 (GRCm39) |
*492W |
probably null |
Het |
| Eif3m |
G |
T |
2: 104,844,178 (GRCm39) |
P76T |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,628,618 (GRCm39) |
S138T |
possibly damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,158 (GRCm39) |
T77A |
probably benign |
Het |
| Hdac1-ps |
G |
T |
17: 78,799,945 (GRCm39) |
W312L |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,422,803 (GRCm39) |
L311P |
probably damaging |
Het |
| Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably damaging |
Het |
|
| Other mutations in Fam43b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2128:Fam43b
|
UTSW |
4 |
138,123,299 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2258:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2281:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2413:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2417:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3705:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3715:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3797:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3798:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3854:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3856:Fam43b
|
UTSW |
4 |
138,122,409 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4639:Fam43b
|
UTSW |
4 |
138,123,278 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4868:Fam43b
|
UTSW |
4 |
138,123,108 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5129:Fam43b
|
UTSW |
4 |
138,122,783 (GRCm39) |
nonsense |
probably null |
|
|
R6176:Fam43b
|
UTSW |
4 |
138,122,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7296:Fam43b
|
UTSW |
4 |
138,123,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8280:Fam43b
|
UTSW |
4 |
138,123,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGGCGACCATTACAGTG -3'
(R):5'- AGTCTTCACCTGGGTCTACC -3'
Sequencing Primer
(F):5'- GACCATTACAGTGACCGCGAG -3'
(R):5'- TTCAGCGACTTCAAGCGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation