Incidental Mutation 'IGL01482:3110009E18Rik'
| ID |
88647 |
| 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 # |
IGL01482
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
120048917-120115919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120099201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 98
(D98V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108263
(fasta)
|
| 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
AA Change: D98V
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388
AA Change: D98V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2340
|
8 |
126 |
1.4e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128578
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
G |
A |
11: 84,361,536 (GRCm39) |
R356C |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 119,981,969 (GRCm39) |
T1095S |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,011,599 (GRCm39) |
F1148S |
probably benign |
Het |
| Adam12 |
G |
T |
7: 133,569,577 (GRCm39) |
D299E |
probably damaging |
Het |
| Alyref |
A |
T |
11: 120,486,762 (GRCm39) |
N166K |
possibly damaging |
Het |
| Atxn1 |
A |
T |
13: 45,710,790 (GRCm39) |
I714N |
probably benign |
Het |
| Bves |
A |
G |
10: 45,230,902 (GRCm39) |
E291G |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,500,692 (GRCm39) |
N183S |
possibly damaging |
Het |
| Dennd2a |
T |
C |
6: 39,457,243 (GRCm39) |
H733R |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,408,798 (GRCm39) |
G762S |
possibly damaging |
Het |
| Gm29326 |
A |
C |
7: 29,260,136 (GRCm39) |
|
noncoding transcript |
Het |
| Itgb2l |
A |
T |
16: 96,239,948 (GRCm39) |
L17Q |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,567,937 (GRCm39) |
D668E |
probably benign |
Het |
| Ksr1 |
G |
A |
11: 78,927,409 (GRCm39) |
T308I |
probably damaging |
Het |
| Mfap4 |
A |
G |
11: 61,378,583 (GRCm39) |
D177G |
probably damaging |
Het |
| Mmut |
C |
T |
17: 41,267,162 (GRCm39) |
R579C |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,307,797 (GRCm39) |
I369F |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
| Nckap5 |
G |
T |
1: 125,950,897 (GRCm39) |
S1598Y |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,526,159 (GRCm39) |
M60L |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,283,790 (GRCm39) |
N739S |
possibly damaging |
Het |
| Or5p58 |
A |
C |
7: 107,694,693 (GRCm39) |
V28G |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,074,271 (GRCm39) |
H275L |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,357,340 (GRCm39) |
S711P |
probably damaging |
Het |
| Ptpn1 |
G |
A |
2: 167,809,712 (GRCm39) |
V107M |
probably damaging |
Het |
| Ptprf |
G |
A |
4: 118,069,651 (GRCm39) |
R1498C |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,037 (GRCm39) |
I396T |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,751,762 (GRCm39) |
F3668S |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,855,346 (GRCm39) |
V340A |
probably benign |
Het |
| Silc1 |
T |
A |
12: 27,191,893 (GRCm39) |
|
noncoding transcript |
Het |
| Spaca3 |
G |
T |
11: 80,758,510 (GRCm39) |
V158L |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,857,639 (GRCm39) |
N66S |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 128,346,270 (GRCm39) |
I84N |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,295,057 (GRCm39) |
D523V |
probably damaging |
Het |
| Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
| Yeats2 |
C |
T |
16: 20,041,671 (GRCm39) |
T1202I |
probably damaging |
Het |
|
| Other mutations in 3110009E18Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:3110009E18Rik
|
APN |
1 |
120,078,336 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00696:3110009E18Rik
|
APN |
1 |
120,099,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2013-11-18 |
Incidental Mutation