Incidental Mutation 'R4376:Fam83e'
| ID |
325101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83e
|
| Ensembl Gene |
ENSMUSG00000054161 |
| Gene Name |
family with sequence similarity 83, member E |
| Synonyms |
4930403C10Rik |
| MMRRC Submission |
041120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45370636-45378916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45373317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 228
(S228C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072503]
[ENSMUST00000094424]
[ENSMUST00000129507]
[ENSMUST00000209287]
[ENSMUST00000209693]
[ENSMUST00000211061]
[ENSMUST00000210640]
[ENSMUST00000211435]
|
| AlphaFold |
Q80XS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072503
|
| SMART Domains |
Protein: ENSMUSP00000072320
Gene: ENSMUSG00000059070
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2ZKR|O
|
1 |
188 |
1e-116 |
PDB |
|
SCOP:d1jj2n_
|
22 |
139 |
1e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094424
|
| SMART Domains |
Protein: ENSMUSP00000091991
Gene: ENSMUSG00000070563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:UPAR_LY6
|
23 |
97 |
1.7e-7 |
PFAM |
|
low complexity region
|
99 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129507
AA Change: S228C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: S228C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
18 |
293 |
4.8e-105 |
PFAM |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156689
AA Change: E548V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209693
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211435
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,314,238 (GRCm39) |
S683P |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,344,794 (GRCm39) |
T53M |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Eaf2 |
A |
G |
16: 36,620,998 (GRCm39) |
L184P |
unknown |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mlh3 |
C |
A |
12: 85,305,972 (GRCm39) |
R1175L |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,871 (GRCm39) |
S67P |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,826,195 (GRCm39) |
N266I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pank1 |
C |
T |
19: 34,855,104 (GRCm39) |
V4I |
probably benign |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,693,891 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,816,448 (GRCm39) |
V1240A |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,568,433 (GRCm39) |
C372* |
probably null |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
|
| Other mutations in Fam83e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Fam83e
|
APN |
7 |
45,376,493 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01590:Fam83e
|
APN |
7 |
45,373,360 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02334:Fam83e
|
APN |
7 |
45,373,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03155:Fam83e
|
APN |
7 |
45,376,499 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03276:Fam83e
|
APN |
7 |
45,372,884 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0268:Fam83e
|
UTSW |
7 |
45,376,334 (GRCm39) |
missense |
probably benign |
|
|
R0362:Fam83e
|
UTSW |
7 |
45,376,393 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0453:Fam83e
|
UTSW |
7 |
45,373,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0832:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0870:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0871:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Fam83e
|
UTSW |
7 |
45,371,687 (GRCm39) |
missense |
probably benign |
|
|
R1848:Fam83e
|
UTSW |
7 |
45,378,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1848:Fam83e
|
UTSW |
7 |
45,378,193 (GRCm39) |
nonsense |
probably null |
|
|
R2189:Fam83e
|
UTSW |
7 |
45,371,607 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R2256:Fam83e
|
UTSW |
7 |
45,378,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2256:Fam83e
|
UTSW |
7 |
45,378,193 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Fam83e
|
UTSW |
7 |
45,378,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2257:Fam83e
|
UTSW |
7 |
45,378,193 (GRCm39) |
nonsense |
probably null |
|
|
R4600:Fam83e
|
UTSW |
7 |
45,372,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5876:Fam83e
|
UTSW |
7 |
45,371,787 (GRCm39) |
splice site |
probably null |
|
|
R6666:Fam83e
|
UTSW |
7 |
45,376,426 (GRCm39) |
missense |
probably benign |
|
|
R6766:Fam83e
|
UTSW |
7 |
45,376,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6781:Fam83e
|
UTSW |
7 |
45,371,571 (GRCm39) |
unclassified |
probably benign |
|
|
R6933:Fam83e
|
UTSW |
7 |
45,371,818 (GRCm39) |
missense |
probably benign |
|
|
R7320:Fam83e
|
UTSW |
7 |
45,371,896 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7477:Fam83e
|
UTSW |
7 |
45,378,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7636:Fam83e
|
UTSW |
7 |
45,376,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8675:Fam83e
|
UTSW |
7 |
45,373,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9328:Fam83e
|
UTSW |
7 |
45,372,912 (GRCm39) |
missense |
probably benign |
|
|
R9577:Fam83e
|
UTSW |
7 |
45,376,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9705:Fam83e
|
UTSW |
7 |
45,371,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGAGATCTGAAACACATGC -3'
(R):5'- CCATTGTAGAGATGAGTGCGG -3'
Sequencing Primer
(F):5'- TCTGAAACACATGCCACTGGAGG -3'
(R):5'- GAGCCCAGAGACCCAGGATG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation