Incidental Mutation 'R4500:Fam83d'
| ID |
331777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83d
|
| Ensembl Gene |
ENSMUSG00000027654 |
| Gene Name |
family with sequence similarity 83, member D |
| Synonyms |
2310007D09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R4500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158610013-158628557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158627187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 292
(E292G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029183]
|
| AlphaFold |
Q9D7I8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029183
AA Change: E292G
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029183
Gene: ENSMUSG00000027654
AA Change: E292G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
17 |
293 |
1.4e-100 |
PFAM |
|
Pfam:PLDc_2
|
149 |
288 |
3.1e-12 |
PFAM |
|
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151801
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
A |
16: 88,556,429 (GRCm39) |
C214* |
probably null |
Het |
| Ap3s1 |
T |
C |
18: 46,923,067 (GRCm39) |
V186A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Duxf4 |
C |
T |
10: 58,071,528 (GRCm39) |
A229T |
possibly damaging |
Het |
| Hook1 |
T |
C |
4: 95,881,437 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
C |
5: 24,753,275 (GRCm39) |
D459G |
possibly damaging |
Het |
| Klhl18 |
C |
T |
9: 110,259,034 (GRCm39) |
G445S |
probably damaging |
Het |
| Or14a257 |
A |
T |
7: 86,138,127 (GRCm39) |
C211S |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,402 (GRCm39) |
S279P |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,734 (GRCm39) |
R259W |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,509,038 (GRCm39) |
S104P |
probably benign |
Het |
| Tmem239 |
A |
G |
2: 130,249,077 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,143,163 (GRCm39) |
F215L |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,513,759 (GRCm39) |
E785K |
possibly damaging |
Het |
| Vmn2r66 |
G |
A |
7: 84,657,162 (GRCm39) |
A81V |
probably damaging |
Het |
|
| Other mutations in Fam83d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02066:Fam83d
|
APN |
2 |
158,627,793 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02420:Fam83d
|
APN |
2 |
158,627,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0277:Fam83d
|
UTSW |
2 |
158,627,467 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0323:Fam83d
|
UTSW |
2 |
158,627,467 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0349:Fam83d
|
UTSW |
2 |
158,621,768 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0571:Fam83d
|
UTSW |
2 |
158,627,611 (GRCm39) |
nonsense |
probably null |
|
|
R0799:Fam83d
|
UTSW |
2 |
158,621,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1164:Fam83d
|
UTSW |
2 |
158,625,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Fam83d
|
UTSW |
2 |
158,610,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1186:Fam83d
|
UTSW |
2 |
158,627,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Fam83d
|
UTSW |
2 |
158,610,070 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2896:Fam83d
|
UTSW |
2 |
158,627,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Fam83d
|
UTSW |
2 |
158,627,142 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5416:Fam83d
|
UTSW |
2 |
158,627,552 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5866:Fam83d
|
UTSW |
2 |
158,621,750 (GRCm39) |
splice site |
probably null |
|
|
R6328:Fam83d
|
UTSW |
2 |
158,627,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Fam83d
|
UTSW |
2 |
158,625,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7031:Fam83d
|
UTSW |
2 |
158,627,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8721:Fam83d
|
UTSW |
2 |
158,627,522 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9208:Fam83d
|
UTSW |
2 |
158,610,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9801:Fam83d
|
UTSW |
2 |
158,610,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fam83d
|
UTSW |
2 |
158,627,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGCAGCTACTGAGAGC -3'
(R):5'- CTGATGGTAGAAGCCTCAGAGTC -3'
Sequencing Primer
(F):5'- CCGAGCTGAGAGCCCTTATC -3'
(R):5'- TCAGAGTCAGGGCGCTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation