Incidental Mutation 'R6781:Fam83e'
ID |
531418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83e
|
Ensembl Gene |
ENSMUSG00000054161 |
Gene Name |
family with sequence similarity 83, member E |
Synonyms |
4930403C10Rik |
MMRRC Submission |
044895-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6781 (G1)
|
Quality Score |
91.0077 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45370636-45378916 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 45371571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147862
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072503]
[ENSMUST00000094424]
[ENSMUST00000107737]
[ENSMUST00000129507]
[ENSMUST00000209287]
[ENSMUST00000209693]
[ENSMUST00000210060]
[ENSMUST00000210640]
[ENSMUST00000211061]
[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 benign
Transcript: ENSMUST00000107737
|
SMART Domains |
Protein: ENSMUSP00000103366 Gene: ENSMUSG00000057342
Domain | Start | End | E-Value | Type |
SCOP:d1epfa2
|
63 |
87 |
1e-2 |
SMART |
DAGKc
|
147 |
284 |
4.49e-5 |
SMART |
low complexity region
|
369 |
376 |
N/A |
INTRINSIC |
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
PDB:3VZB|C
|
468 |
609 |
4e-25 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129507
|
SMART Domains |
Protein: ENSMUSP00000114397 Gene: ENSMUSG00000054161
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
18 |
293 |
4.8e-105 |
PFAM |
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
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 |
probably benign
Transcript: ENSMUST00000210060
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210640
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211061
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211435
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,593,380 (GRCm39) |
I259N |
possibly damaging |
Het |
Acot12 |
G |
T |
13: 91,932,531 (GRCm39) |
|
probably null |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,162 (GRCm39) |
L195P |
probably damaging |
Het |
Aox4 |
A |
T |
1: 58,284,268 (GRCm39) |
D556V |
probably benign |
Het |
Arhgef40 |
A |
C |
14: 52,235,354 (GRCm39) |
|
probably benign |
Het |
Asb15 |
T |
C |
6: 24,558,674 (GRCm39) |
V63A |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,414,664 (GRCm39) |
I459T |
possibly damaging |
Het |
Bub1 |
C |
A |
2: 127,649,777 (GRCm39) |
G694W |
probably damaging |
Het |
C4b |
A |
T |
17: 34,961,928 (GRCm39) |
I106N |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,628,562 (GRCm39) |
I382V |
probably benign |
Het |
Cntnap5a |
A |
C |
1: 116,220,127 (GRCm39) |
S646R |
probably benign |
Het |
Cntnap5c |
C |
T |
17: 58,445,648 (GRCm39) |
Q563* |
probably null |
Het |
Cpn1 |
A |
G |
19: 43,969,343 (GRCm39) |
F107L |
possibly damaging |
Het |
Csrnp3 |
T |
A |
2: 65,852,615 (GRCm39) |
C336S |
probably benign |
Het |
Defa3 |
T |
A |
8: 21,778,277 (GRCm39) |
M87K |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,124,511 (GRCm39) |
D1110G |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,648,291 (GRCm39) |
F274L |
probably benign |
Het |
Dnah8 |
TTA |
TTATA |
17: 30,984,698 (GRCm39) |
|
probably null |
Het |
Dnase2b |
T |
C |
3: 146,288,126 (GRCm39) |
H323R |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,158,958 (GRCm39) |
N2269S |
probably damaging |
Het |
Foxa1 |
A |
T |
12: 57,590,043 (GRCm39) |
M59K |
possibly damaging |
Het |
Fpr3 |
T |
C |
17: 18,190,978 (GRCm39) |
V83A |
probably benign |
Het |
Frmd6 |
A |
G |
12: 70,946,417 (GRCm39) |
D615G |
possibly damaging |
Het |
Gfra3 |
T |
C |
18: 34,844,375 (GRCm39) |
K55R |
possibly damaging |
Het |
Gm5414 |
A |
T |
15: 101,534,096 (GRCm39) |
S296T |
possibly damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,258,369 (GRCm39) |
K1234* |
probably null |
Het |
Hltf |
T |
A |
3: 20,152,330 (GRCm39) |
Y609N |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ift74 |
A |
G |
4: 94,515,539 (GRCm39) |
D152G |
probably damaging |
Het |
Kcnk6 |
T |
C |
7: 28,924,480 (GRCm39) |
Y308C |
probably damaging |
Het |
Klhl29 |
A |
G |
12: 5,141,347 (GRCm39) |
S546P |
probably damaging |
Het |
Map7d1 |
AGGGCAGCC |
AGGGCAGCCGGGCAGCC |
4: 126,134,544 (GRCm39) |
|
probably null |
Het |
Meis2 |
T |
A |
2: 115,879,636 (GRCm39) |
H228L |
probably benign |
Het |
Mfsd10 |
A |
T |
5: 34,791,853 (GRCm39) |
M344K |
possibly damaging |
Het |
Mrps33 |
T |
C |
6: 39,782,757 (GRCm39) |
|
probably benign |
Het |
Or2a52 |
A |
G |
6: 43,144,322 (GRCm39) |
E110G |
probably damaging |
Het |
Or4p23 |
A |
T |
2: 88,577,174 (GRCm39) |
N19K |
probably benign |
Het |
Pik3cb |
T |
C |
9: 98,923,045 (GRCm39) |
T996A |
possibly damaging |
Het |
Plekha7 |
A |
G |
7: 115,757,090 (GRCm39) |
|
probably null |
Het |
Ppp1cb |
A |
G |
5: 32,638,106 (GRCm39) |
Y86C |
probably damaging |
Het |
Sass6 |
T |
G |
3: 116,388,773 (GRCm39) |
|
probably benign |
Het |
Slc6a15 |
A |
T |
10: 103,230,928 (GRCm39) |
I218F |
probably damaging |
Het |
Tcf23 |
C |
T |
5: 31,126,304 (GRCm39) |
P61L |
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,341 (GRCm39) |
F620S |
probably damaging |
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 |
|
R4376:Fam83e
|
UTSW |
7 |
45,373,317 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CAGGCACATGTGATCAGATCC -3'
(R):5'- TGAGCCTCATCTGCACTCAG -3'
Sequencing Primer
(F):5'- CACATGTGATCAGATCCATGGTG -3'
(R):5'- AGAAAGTCTCCTCGCCACTG -3'
|
Posted On |
2018-08-29 |