Incidental Mutation 'R5961:Fam83a'
ID |
471849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83a
|
Ensembl Gene |
ENSMUSG00000051225 |
Gene Name |
family with sequence similarity 83, member A |
Synonyms |
|
MMRRC Submission |
043247-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5961 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
57848815-57874405 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57872992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 274
(F274I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160942]
|
AlphaFold |
Q8K2P2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160942
AA Change: F274I
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125464 Gene: ENSMUSG00000051225 AA Change: F274I
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
19 |
295 |
3.6e-102 |
PFAM |
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161231
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
A |
G |
9: 103,976,338 (GRCm39) |
L203P |
probably damaging |
Het |
Aen |
C |
G |
7: 78,556,907 (GRCm39) |
H252D |
probably damaging |
Het |
Alkbh6 |
T |
A |
7: 30,013,617 (GRCm39) |
|
probably null |
Het |
Birc6 |
T |
C |
17: 74,953,596 (GRCm39) |
V3286A |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,596,246 (GRCm39) |
M1925T |
probably benign |
Het |
Caprin2 |
A |
C |
6: 148,765,038 (GRCm39) |
S554R |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,708,993 (GRCm39) |
S1280P |
probably damaging |
Het |
Cfap57 |
T |
C |
4: 118,428,942 (GRCm39) |
E1008G |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,120,366 (GRCm39) |
I1813T |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,321,974 (GRCm39) |
F3782S |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dnajc17 |
T |
C |
2: 119,016,527 (GRCm39) |
T64A |
possibly damaging |
Het |
Dvl3 |
T |
G |
16: 20,349,729 (GRCm39) |
S567R |
possibly damaging |
Het |
Epb41l1 |
T |
A |
2: 156,363,706 (GRCm39) |
S738R |
probably benign |
Het |
Exph5 |
T |
C |
9: 53,288,555 (GRCm39) |
W1879R |
probably damaging |
Het |
Ggt1 |
A |
G |
10: 75,421,736 (GRCm39) |
|
probably null |
Het |
Ido2 |
C |
T |
8: 25,023,786 (GRCm39) |
V351M |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,435,440 (GRCm39) |
E469G |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,070,724 (GRCm39) |
S403P |
probably benign |
Het |
Klhl2 |
C |
T |
8: 65,202,818 (GRCm39) |
R460H |
probably damaging |
Het |
Mfsd6l |
A |
G |
11: 68,447,368 (GRCm39) |
Y73C |
possibly damaging |
Het |
Mlec |
A |
T |
5: 115,288,159 (GRCm39) |
C205* |
probably null |
Het |
Mlx |
T |
C |
11: 100,980,053 (GRCm39) |
Y129H |
probably damaging |
Het |
Mmadhc |
T |
C |
2: 50,181,421 (GRCm39) |
H83R |
probably damaging |
Het |
Mmp16 |
T |
C |
4: 17,853,842 (GRCm39) |
F41S |
probably benign |
Het |
Mroh6 |
G |
A |
15: 75,759,617 (GRCm39) |
Q187* |
probably null |
Het |
Myh14 |
T |
A |
7: 44,272,518 (GRCm39) |
E1437V |
probably damaging |
Het |
Nrxn1 |
A |
C |
17: 90,762,371 (GRCm39) |
L37R |
probably damaging |
Het |
Or6c209 |
T |
C |
10: 129,483,723 (GRCm39) |
M242T |
possibly damaging |
Het |
Pkhd1l1 |
A |
C |
15: 44,322,859 (GRCm39) |
R48S |
probably damaging |
Het |
Prokr2 |
A |
G |
2: 132,215,595 (GRCm39) |
Y128H |
possibly damaging |
Het |
Prtg |
T |
C |
9: 72,764,228 (GRCm39) |
V567A |
probably benign |
Het |
Rbis |
T |
C |
3: 14,676,124 (GRCm39) |
T26A |
possibly damaging |
Het |
Srrm2 |
G |
A |
17: 24,039,083 (GRCm39) |
|
probably benign |
Het |
Stat4 |
A |
T |
1: 52,104,543 (GRCm39) |
I115L |
possibly damaging |
Het |
Tnxb |
G |
A |
17: 34,937,609 (GRCm39) |
V3833M |
probably damaging |
Het |
Ugt2b36 |
C |
T |
5: 87,228,724 (GRCm39) |
|
probably null |
Het |
Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,652,523 (GRCm39) |
S47P |
probably damaging |
Het |
Vps53 |
A |
G |
11: 75,939,316 (GRCm39) |
Y696H |
probably damaging |
Het |
Zfp384 |
T |
C |
6: 125,000,997 (GRCm39) |
I23T |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,088,346 (GRCm39) |
Y725C |
probably benign |
Het |
|
Other mutations in Fam83a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01061:Fam83a
|
APN |
15 |
57,849,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01328:Fam83a
|
APN |
15 |
57,849,901 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01590:Fam83a
|
APN |
15 |
57,873,173 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02306:Fam83a
|
APN |
15 |
57,858,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Fam83a
|
APN |
15 |
57,856,473 (GRCm39) |
splice site |
probably null |
|
R0110:Fam83a
|
UTSW |
15 |
57,873,322 (GRCm39) |
missense |
probably benign |
0.09 |
R0450:Fam83a
|
UTSW |
15 |
57,873,322 (GRCm39) |
missense |
probably benign |
0.09 |
R0469:Fam83a
|
UTSW |
15 |
57,873,322 (GRCm39) |
missense |
probably benign |
0.09 |
R0533:Fam83a
|
UTSW |
15 |
57,873,207 (GRCm39) |
missense |
probably benign |
0.43 |
R1210:Fam83a
|
UTSW |
15 |
57,858,644 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1386:Fam83a
|
UTSW |
15 |
57,849,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R1474:Fam83a
|
UTSW |
15 |
57,873,272 (GRCm39) |
missense |
probably benign |
0.02 |
R1476:Fam83a
|
UTSW |
15 |
57,873,341 (GRCm39) |
missense |
probably benign |
0.00 |
R1969:Fam83a
|
UTSW |
15 |
57,849,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R4463:Fam83a
|
UTSW |
15 |
57,858,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R5088:Fam83a
|
UTSW |
15 |
57,873,196 (GRCm39) |
missense |
probably benign |
0.00 |
R6307:Fam83a
|
UTSW |
15 |
57,849,507 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6524:Fam83a
|
UTSW |
15 |
57,858,736 (GRCm39) |
critical splice donor site |
probably null |
|
R6676:Fam83a
|
UTSW |
15 |
57,856,439 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7412:Fam83a
|
UTSW |
15 |
57,849,821 (GRCm39) |
missense |
probably benign |
|
R7447:Fam83a
|
UTSW |
15 |
57,873,086 (GRCm39) |
missense |
probably benign |
0.00 |
R7493:Fam83a
|
UTSW |
15 |
57,849,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R8379:Fam83a
|
UTSW |
15 |
57,873,196 (GRCm39) |
missense |
probably benign |
0.00 |
R8424:Fam83a
|
UTSW |
15 |
57,873,046 (GRCm39) |
missense |
possibly damaging |
0.45 |
R8728:Fam83a
|
UTSW |
15 |
57,873,062 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8856:Fam83a
|
UTSW |
15 |
57,872,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R8925:Fam83a
|
UTSW |
15 |
57,873,313 (GRCm39) |
missense |
probably benign |
0.01 |
R8927:Fam83a
|
UTSW |
15 |
57,873,313 (GRCm39) |
missense |
probably benign |
0.01 |
R9514:Fam83a
|
UTSW |
15 |
57,849,765 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9721:Fam83a
|
UTSW |
15 |
57,849,513 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Fam83a
|
UTSW |
15 |
57,873,001 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCTGGGATGAAGTGTCC -3'
(R):5'- TGAAGATGTGGACAGACTCTG -3'
Sequencing Primer
(F):5'- AAGTGTCCCTGCTTGTGC -3'
(R):5'- ATTGCTGCCGGTCGACAG -3'
|
Posted On |
2017-03-31 |