Incidental Mutation 'R2417:Fam43b'
| ID |
249029 |
| 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: 0.544)
|
| Stock # |
R2417 (G1)
|
| Quality Score |
96 |
|
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
A |
17: 41,191,101 (GRCm39) |
K109N |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,258,627 (GRCm39) |
V848A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,741,805 (GRCm39) |
P756S |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,852,234 (GRCm39) |
K319E |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,646,546 (GRCm39) |
A425T |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,939 (GRCm39) |
R879W |
probably damaging |
Het |
| Cfap65 |
GTCTT |
GTCTTCTT |
1: 74,966,345 (GRCm39) |
|
probably benign |
Het |
| Cpsf7 |
T |
C |
19: 10,503,332 (GRCm39) |
|
probably benign |
Het |
| Ctf2 |
A |
G |
7: 127,318,759 (GRCm39) |
V80A |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,894,729 (GRCm39) |
L30P |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,502,534 (GRCm39) |
D700G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,947,579 (GRCm39) |
P613L |
probably damaging |
Het |
| Itih3 |
G |
A |
14: 30,639,621 (GRCm39) |
T400I |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,621 (GRCm39) |
L117Q |
probably damaging |
Het |
| Ncbp1 |
C |
T |
4: 46,168,530 (GRCm39) |
S626L |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,889,479 (GRCm39) |
D1047N |
unknown |
Het |
| Ptprm |
T |
G |
17: 67,251,321 (GRCm39) |
T519P |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,892,007 (GRCm39) |
D1881A |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,717 (GRCm39) |
D301G |
possibly damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,329 (GRCm39) |
E54K |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,309 (GRCm39) |
N628S |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,668,803 (GRCm39) |
V36M |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,688,608 (GRCm39) |
N533K |
possibly 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 |
|
R2416: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'- AAGGCGACCATTACAGTGAC -3'
(R):5'- AGTCTTCACCTGGGTCTACC -3'
Sequencing Primer
(F):5'- GACCATTACAGTGACCGCGAG -3'
(R):5'- TTCAGCGACTTCAAGCGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation