Incidental Mutation 'R6524:Fam83a'
| ID |
521619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83a
|
| Ensembl Gene |
ENSMUSG00000051225 |
| Gene Name |
family with sequence similarity 83, member A |
| Synonyms |
|
| MMRRC Submission |
044650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57848815-57874405 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 57858736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050374]
[ENSMUST00000160942]
|
| AlphaFold |
Q8K2P2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050374
AA Change: *259R
|
| SMART Domains |
Protein: ENSMUSP00000050051
Gene: ENSMUSG00000051225
AA Change: *259R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
14 |
258 |
6e-85 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160942
|
| SMART Domains |
Protein: ENSMUSP00000125464
Gene: ENSMUSG00000051225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
19 |
295 |
3.6e-102 |
PFAM |
|
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,641 (GRCm39) |
R100G |
possibly damaging |
Het |
| Acin1 |
G |
T |
14: 54,882,740 (GRCm39) |
D237E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| C3 |
A |
T |
17: 57,524,264 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,237,159 (GRCm39) |
C650S |
probably benign |
Het |
| Dsg2 |
T |
G |
18: 20,716,093 (GRCm39) |
F315V |
probably damaging |
Het |
| Dyrk1a |
C |
T |
16: 94,485,979 (GRCm39) |
S404L |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,274,902 (GRCm39) |
|
probably null |
Het |
| Esco1 |
T |
G |
18: 10,582,188 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 15,903,552 (GRCm39) |
V2981E |
probably damaging |
Het |
| H1f11-ps |
G |
A |
19: 47,158,999 (GRCm39) |
T192M |
unknown |
Het |
| Heatr5b |
A |
G |
17: 79,121,535 (GRCm39) |
L730P |
possibly damaging |
Het |
| Hgsnat |
A |
G |
8: 26,435,260 (GRCm39) |
S625P |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,340,644 (GRCm39) |
T84I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,246,709 (GRCm39) |
N1070S |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,708,883 (GRCm39) |
F276L |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,441,187 (GRCm39) |
S2P |
unknown |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,412 (GRCm39) |
E337G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,741,816 (GRCm39) |
E3037G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,192,293 (GRCm39) |
I824T |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,051,491 (GRCm39) |
V291I |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,655,280 (GRCm39) |
D1343E |
probably benign |
Het |
| Mybl2 |
C |
A |
2: 162,916,450 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,891 (GRCm39) |
N1680S |
probably damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,496,999 (GRCm39) |
V308A |
probably benign |
Het |
| Or5h23 |
C |
T |
16: 58,906,640 (GRCm39) |
V69M |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,768,883 (GRCm39) |
R4366H |
unknown |
Het |
| Phax |
T |
A |
18: 56,720,074 (GRCm39) |
D338E |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,519 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
T |
5: 24,020,737 (GRCm39) |
M529L |
probably benign |
Het |
| Scand1 |
C |
T |
2: 156,154,169 (GRCm39) |
|
probably benign |
Het |
| Six3 |
C |
T |
17: 85,929,398 (GRCm39) |
T244I |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,380,623 (GRCm39) |
S1034P |
probably benign |
Het |
| Ssu72 |
T |
G |
4: 155,799,997 (GRCm39) |
N53K |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,317,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| Tspan8 |
T |
C |
10: 115,679,984 (GRCm39) |
F200L |
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,890 (GRCm39) |
V234D |
possibly damaging |
Het |
| Ubxn10 |
T |
A |
4: 138,448,194 (GRCm39) |
R161* |
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,384 (GRCm39) |
L420Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,687,406 (GRCm39) |
D208E |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,204 (GRCm39) |
Y230C |
probably damaging |
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 |
|
R5961:Fam83a
|
UTSW |
15 |
57,872,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6307:Fam83a
|
UTSW |
15 |
57,849,507 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- TGAATACCCAGTTAGTAAGTGACG -3'
(R):5'- CAATTCCTAAGAGGCCGGAG -3'
Sequencing Primer
(F):5'- CAGTTAGTAAGTGACGCCCTC -3'
(R):5'- CTCTGTCCAATTTCAGTGTCAGGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation