Incidental Mutation 'R2447:Gm12888'
| ID |
248896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12888
|
| Ensembl Gene |
ENSMUSG00000073764 |
| Gene Name |
predicted gene 12888 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2447 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
121173513-121182114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121175547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 78
(D78E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097905]
|
| AlphaFold |
Q3UW77 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097905
AA Change: D78E
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095515
Gene: ENSMUSG00000073764
AA Change: D78E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
32 |
119 |
2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Foxo3 |
T |
C |
10: 42,073,816 (GRCm39) |
I15V |
probably benign |
Het |
| Gm4952 |
T |
A |
19: 12,595,770 (GRCm39) |
N53K |
possibly damaging |
Het |
| Hrg |
A |
T |
16: 22,779,898 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,111,973 (GRCm39) |
T567I |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Panx1 |
A |
G |
9: 14,956,185 (GRCm39) |
I50T |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,102,995 (GRCm39) |
F1114L |
probably benign |
Het |
| Phf6 |
C |
G |
X: 52,042,435 (GRCm39) |
Q279E |
probably benign |
Het |
| Phip |
A |
G |
9: 82,797,452 (GRCm39) |
V517A |
probably damaging |
Het |
| Psmb5 |
C |
T |
14: 54,851,927 (GRCm39) |
V86I |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,114,666 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
A |
G |
14: 30,495,850 (GRCm39) |
I44M |
possibly damaging |
Het |
| Tmem89 |
A |
T |
9: 108,743,868 (GRCm39) |
D56V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz3 |
T |
A |
7: 36,468,178 (GRCm39) |
C56S |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,284 (GRCm39) |
A1322S |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,833,724 (GRCm39) |
H188Y |
probably damaging |
Het |
|
| Other mutations in Gm12888 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Gm12888
|
APN |
4 |
121,176,642 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01113:Gm12888
|
APN |
4 |
121,175,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02297:Gm12888
|
APN |
4 |
121,181,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Gm12888
|
UTSW |
4 |
121,182,069 (GRCm39) |
missense |
unknown |
|
|
R2096:Gm12888
|
UTSW |
4 |
121,176,655 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5800:Gm12888
|
UTSW |
4 |
121,176,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6406:Gm12888
|
UTSW |
4 |
121,176,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8255:Gm12888
|
UTSW |
4 |
121,181,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9159:Gm12888
|
UTSW |
4 |
121,176,600 (GRCm39) |
missense |
probably null |
|
|
R9299:Gm12888
|
UTSW |
4 |
121,182,044 (GRCm39) |
missense |
unknown |
|
|
R9738:Gm12888
|
UTSW |
4 |
121,175,520 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Gm12888
|
UTSW |
4 |
121,182,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTGAATGTCTAAATAATTACAGTC -3'
(R):5'- ACATACGATGGTCCCAGCC -3'
Sequencing Primer
(F):5'- TCAATGTATGTGAATAGAAGAAGCAG -3'
(R):5'- GTGAAGCAAGCCTGTGATACCTTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation