Incidental Mutation 'IGL00768:Gm382'
ID |
11004 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm382
|
Ensembl Gene |
ENSMUSG00000062791 |
Gene Name |
predicted gene 382 |
Synonyms |
LOC211208 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL00768
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
125947595-125971609 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 125968366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 184
(Q184*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096332]
|
AlphaFold |
B1AXN3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000096332
AA Change: Q184*
|
SMART Domains |
Protein: ENSMUSP00000094056 Gene: ENSMUSG00000062791 AA Change: Q184*
Domain | Start | End | E-Value | Type |
KH
|
351 |
416 |
4.04e-3 |
SMART |
KH
|
421 |
489 |
2.98e-1 |
SMART |
KH
|
493 |
562 |
2.26e-6 |
SMART |
KH
|
567 |
635 |
1.55e-13 |
SMART |
KH
|
639 |
708 |
1.12e-1 |
SMART |
KH
|
713 |
782 |
7.82e-10 |
SMART |
KH
|
786 |
855 |
1.73e-2 |
SMART |
KH
|
859 |
957 |
1.28e-5 |
SMART |
KH
|
958 |
1024 |
9.48e-9 |
SMART |
KH
|
1036 |
1106 |
1.18e-4 |
SMART |
KH
|
1110 |
1178 |
6.11e-12 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
C |
T |
14: 118,766,409 (GRCm39) |
V888I |
probably benign |
Het |
Apob |
A |
T |
12: 8,052,107 (GRCm39) |
N1170Y |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,461,012 (GRCm39) |
D213G |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,659,611 (GRCm39) |
S445G |
probably benign |
Het |
Dgkb |
A |
C |
12: 38,477,478 (GRCm39) |
E629D |
probably benign |
Het |
Gabra3 |
T |
C |
X: 71,519,903 (GRCm39) |
H188R |
probably benign |
Het |
Gak |
G |
T |
5: 108,724,520 (GRCm39) |
H1063Q |
probably benign |
Het |
Gpr160 |
T |
A |
3: 30,950,098 (GRCm39) |
Y57N |
probably damaging |
Het |
Gucy1a2 |
T |
C |
9: 3,635,111 (GRCm39) |
V385A |
possibly damaging |
Het |
Khdc1b |
A |
T |
1: 21,454,405 (GRCm39) |
D36V |
probably benign |
Het |
Tmem67 |
A |
G |
4: 12,055,029 (GRCm39) |
|
probably null |
Het |
Tmpo |
G |
A |
10: 91,000,068 (GRCm39) |
|
probably benign |
Het |
Triml1 |
A |
G |
8: 43,593,998 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gm382 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00534:Gm382
|
APN |
X |
125,971,238 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00594:Gm382
|
APN |
X |
125,970,775 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03193:Gm382
|
APN |
X |
125,971,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03285:Gm382
|
APN |
X |
125,969,318 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2128:Gm382
|
UTSW |
X |
125,970,274 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4391:Gm382
|
UTSW |
X |
125,968,942 (GRCm39) |
missense |
probably benign |
0.08 |
X0026:Gm382
|
UTSW |
X |
125,969,770 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2012-12-06 |