Incidental Mutation 'IGL00690:3110009E18Rik'
ID |
26571 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
3110009E18Rik
|
Ensembl Gene |
ENSMUSG00000026388 |
Gene Name |
RIKEN cDNA 3110009E18 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL00690
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
120048917-120115919 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 120078336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027637]
[ENSMUST00000056038]
[ENSMUST00000112644]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027637
|
SMART Domains |
Protein: ENSMUSP00000027637 Gene: ENSMUSG00000026388
Domain | Start | End | E-Value | Type |
Pfam:DUF2340
|
8 |
93 |
3.7e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056038
|
SMART Domains |
Protein: ENSMUSP00000053335 Gene: ENSMUSG00000026388
Domain | Start | End | E-Value | Type |
Pfam:DUF2340
|
8 |
93 |
3.7e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112644
|
SMART Domains |
Protein: ENSMUSP00000108263 Gene: ENSMUSG00000026388
Domain | Start | End | E-Value | Type |
Pfam:DUF2340
|
8 |
126 |
1.4e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153037
|
SMART Domains |
Protein: ENSMUSP00000115887 Gene: ENSMUSG00000026388
Domain | Start | End | E-Value | Type |
Pfam:DUF2340
|
1 |
61 |
1.6e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187809
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
G |
15: 64,571,151 (GRCm39) |
V1164A |
probably damaging |
Het |
Arhgef9 |
C |
T |
X: 94,125,285 (GRCm39) |
C177Y |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,576,039 (GRCm39) |
Q765* |
probably null |
Het |
Brwd1 |
A |
G |
16: 95,818,786 (GRCm39) |
Y1349H |
probably damaging |
Het |
Cep57 |
A |
T |
9: 13,730,312 (GRCm39) |
N48K |
probably damaging |
Het |
Crlf3 |
A |
G |
11: 79,950,163 (GRCm39) |
S156P |
probably damaging |
Het |
Edn2 |
G |
A |
4: 120,020,649 (GRCm39) |
R92H |
probably damaging |
Het |
Eml2 |
T |
A |
7: 18,940,068 (GRCm39) |
W647R |
probably damaging |
Het |
Gcm1 |
A |
T |
9: 77,972,298 (GRCm39) |
D413V |
probably benign |
Het |
Med1 |
A |
C |
11: 98,060,226 (GRCm39) |
D234E |
possibly damaging |
Het |
Nfatc4 |
T |
C |
14: 56,070,019 (GRCm39) |
F729S |
probably damaging |
Het |
Pcbd1 |
T |
C |
10: 60,928,469 (GRCm39) |
|
probably benign |
Het |
Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
Serpina3c |
A |
T |
12: 104,118,198 (GRCm39) |
L47M |
possibly damaging |
Het |
Strn3 |
T |
C |
12: 51,657,221 (GRCm39) |
I631V |
possibly damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,066,476 (GRCm39) |
I750T |
probably damaging |
Het |
|
Other mutations in 3110009E18Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00696:3110009E18Rik
|
APN |
1 |
120,099,156 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01482:3110009E18Rik
|
APN |
1 |
120,099,201 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01996:3110009E18Rik
|
APN |
1 |
120,078,430 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0033:3110009E18Rik
|
UTSW |
1 |
120,115,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:3110009E18Rik
|
UTSW |
1 |
120,093,906 (GRCm39) |
splice site |
probably benign |
|
R1025:3110009E18Rik
|
UTSW |
1 |
120,099,192 (GRCm39) |
missense |
probably damaging |
0.97 |
R1535:3110009E18Rik
|
UTSW |
1 |
120,099,203 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4676:3110009E18Rik
|
UTSW |
1 |
120,078,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R4955:3110009E18Rik
|
UTSW |
1 |
120,096,850 (GRCm39) |
intron |
probably benign |
|
R4955:3110009E18Rik
|
UTSW |
1 |
120,096,849 (GRCm39) |
intron |
probably benign |
|
R4955:3110009E18Rik
|
UTSW |
1 |
120,096,840 (GRCm39) |
intron |
probably benign |
|
R4956:3110009E18Rik
|
UTSW |
1 |
120,096,850 (GRCm39) |
intron |
probably benign |
|
R4956:3110009E18Rik
|
UTSW |
1 |
120,096,849 (GRCm39) |
intron |
probably benign |
|
R4956:3110009E18Rik
|
UTSW |
1 |
120,096,840 (GRCm39) |
intron |
probably benign |
|
R4957:3110009E18Rik
|
UTSW |
1 |
120,096,850 (GRCm39) |
intron |
probably benign |
|
R4957:3110009E18Rik
|
UTSW |
1 |
120,096,849 (GRCm39) |
intron |
probably benign |
|
R4957:3110009E18Rik
|
UTSW |
1 |
120,096,840 (GRCm39) |
intron |
probably benign |
|
R5866:3110009E18Rik
|
UTSW |
1 |
120,096,814 (GRCm39) |
intron |
probably benign |
|
R6151:3110009E18Rik
|
UTSW |
1 |
120,099,216 (GRCm39) |
splice site |
probably null |
|
R6229:3110009E18Rik
|
UTSW |
1 |
120,099,213 (GRCm39) |
critical splice donor site |
probably null |
|
R8187:3110009E18Rik
|
UTSW |
1 |
120,115,913 (GRCm39) |
makesense |
probably null |
|
R8498:3110009E18Rik
|
UTSW |
1 |
120,096,872 (GRCm39) |
splice site |
probably null |
|
R9049:3110009E18Rik
|
UTSW |
1 |
120,115,900 (GRCm39) |
missense |
probably null |
|
R9075:3110009E18Rik
|
UTSW |
1 |
120,097,014 (GRCm39) |
missense |
|
|
R9211:3110009E18Rik
|
UTSW |
1 |
120,099,161 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9492:3110009E18Rik
|
UTSW |
1 |
120,078,472 (GRCm39) |
missense |
probably damaging |
0.99 |
R9564:3110009E18Rik
|
UTSW |
1 |
120,097,006 (GRCm39) |
missense |
|
|
|
Posted On |
2013-04-17 |