Incidental Mutation 'R2322:AY358078'
| ID |
244787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AY358078
|
| Ensembl Gene |
ENSMUSG00000050961 |
| Gene Name |
cDNA sequence AY358078 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2322 (G1)
|
| Quality Score |
157 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52037503-52063816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52042147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 174
(Y174C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053821]
|
| AlphaFold |
Q6UY53 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000053821
AA Change: Y174C
|
| SMART Domains |
Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: Y174C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
91 |
171 |
5.5e-26 |
PFAM |
|
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,984,463 (GRCm39) |
V529E |
probably benign |
Het |
| Brinp3 |
A |
G |
1: 146,577,492 (GRCm39) |
T176A |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,732 (GRCm39) |
M214T |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,467,922 (GRCm39) |
I272L |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,514 (GRCm39) |
K301E |
probably damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,802 (GRCm39) |
L260H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,274 (GRCm39) |
Y275C |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,007,847 (GRCm39) |
S96P |
probably damaging |
Het |
| Hykk |
G |
A |
9: 54,853,418 (GRCm39) |
G247S |
probably benign |
Het |
| Ky |
T |
C |
9: 102,414,990 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
C |
10: 59,290,766 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
T |
G |
11: 49,231,476 (GRCm39) |
L39R |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,118 (GRCm39) |
C104R |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,008,878 (GRCm39) |
R667Q |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,301,473 (GRCm39) |
T220A |
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,348 (GRCm39) |
C766* |
probably null |
Het |
| St8sia4 |
C |
T |
1: 95,581,463 (GRCm39) |
R93H |
probably damaging |
Het |
| Tcim |
G |
C |
8: 24,928,726 (GRCm39) |
R63G |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,217,813 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zhx3 |
T |
C |
2: 160,623,948 (GRCm39) |
D73G |
probably damaging |
Het |
|
| Other mutations in AY358078 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:AY358078
|
APN |
14 |
52,043,166 (GRCm39) |
splice site |
probably benign |
|
|
IGL02053:AY358078
|
APN |
14 |
52,043,009 (GRCm39) |
missense |
unknown |
|
|
IGL02057:AY358078
|
APN |
14 |
52,057,762 (GRCm39) |
missense |
unknown |
|
|
IGL02498:AY358078
|
APN |
14 |
52,040,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4737:AY358078
|
UTSW |
14 |
52,043,155 (GRCm39) |
missense |
unknown |
|
|
R0140:AY358078
|
UTSW |
14 |
52,063,399 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0466:AY358078
|
UTSW |
14 |
52,043,089 (GRCm39) |
missense |
unknown |
|
|
R0496:AY358078
|
UTSW |
14 |
52,040,989 (GRCm39) |
missense |
unknown |
|
|
R1546:AY358078
|
UTSW |
14 |
52,057,876 (GRCm39) |
splice site |
probably null |
|
|
R1793:AY358078
|
UTSW |
14 |
52,042,051 (GRCm39) |
missense |
unknown |
|
|
R1867:AY358078
|
UTSW |
14 |
52,037,504 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R1993:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:AY358078
|
UTSW |
14 |
52,063,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2441:AY358078
|
UTSW |
14 |
52,037,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3851:AY358078
|
UTSW |
14 |
52,043,010 (GRCm39) |
missense |
unknown |
|
|
R3852:AY358078
|
UTSW |
14 |
52,043,010 (GRCm39) |
missense |
unknown |
|
|
R4600:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4603:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4610:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4611:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4916:AY358078
|
UTSW |
14 |
52,040,108 (GRCm39) |
missense |
unknown |
|
|
R5096:AY358078
|
UTSW |
14 |
52,063,575 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5143:AY358078
|
UTSW |
14 |
52,040,006 (GRCm39) |
missense |
unknown |
|
|
R5609:AY358078
|
UTSW |
14 |
52,042,065 (GRCm39) |
missense |
unknown |
|
|
R5651:AY358078
|
UTSW |
14 |
52,059,617 (GRCm39) |
missense |
unknown |
|
|
R6345:AY358078
|
UTSW |
14 |
52,063,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6988:AY358078
|
UTSW |
14 |
52,063,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7340:AY358078
|
UTSW |
14 |
52,063,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:AY358078
|
UTSW |
14 |
52,059,635 (GRCm39) |
missense |
unknown |
|
|
R8684:AY358078
|
UTSW |
14 |
52,059,597 (GRCm39) |
nonsense |
probably null |
|
|
RF002:AY358078
|
UTSW |
14 |
52,043,050 (GRCm39) |
nonsense |
probably null |
|
|
RF017:AY358078
|
UTSW |
14 |
52,043,050 (GRCm39) |
nonsense |
probably null |
|
|
RF025:AY358078
|
UTSW |
14 |
52,043,046 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGCATACAATTTCCTTGGG -3'
(R):5'- GCTGAGGGTCTTGGACAATC -3'
Sequencing Primer
(F):5'- GGCATACAATTTCCTTGGGTAGCC -3'
(R):5'- GAGGGTCTTGGACAATCTTCACAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation