Incidental Mutation 'R2189:Fam83e'
| ID |
237969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83e
|
| Ensembl Gene |
ENSMUSG00000054161 |
| Gene Name |
family with sequence similarity 83, member E |
| Synonyms |
4930403C10Rik |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45370636-45378916 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
G to T
at 45371607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072503]
[ENSMUST00000094424]
[ENSMUST00000107737]
[ENSMUST00000129507]
[ENSMUST00000209287]
[ENSMUST00000209693]
[ENSMUST00000211435]
[ENSMUST00000210640]
[ENSMUST00000210060]
[ENSMUST00000211061]
|
| 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 null
Transcript: ENSMUST00000129507
AA Change: M1I
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: M1I
| 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 |
noncoding transcript
Transcript: ENSMUST00000211425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211435
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210060
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209867
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly 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 |
|
|
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 |
|
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'- AGTCTGTAGGGACTGAGTCG -3'
(R):5'- ACTAGCCAGTCTTCAGCAGC -3'
Sequencing Primer
(F):5'- TAGGGACTGAGTCGGGCAC -3'
(R):5'- AGTCTTCAGCAGCCGTAGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation