Incidental Mutation 'IGL00479:D930020B18Rik'
| ID |
6086 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
D930020B18Rik
|
| Ensembl Gene |
ENSMUSG00000047642 |
| Gene Name |
RIKEN cDNA D930020B18 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121477493-121529820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121521489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 491
(L491P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120642]
[ENSMUST00000132744]
[ENSMUST00000140802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120642
AA Change: L491P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: L491P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4551
|
11 |
617 |
3.2e-237 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132744
AA Change: L315P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: L315P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4551
|
1 |
148 |
3.6e-66 |
PFAM |
|
Pfam:DUF4551
|
142 |
443 |
6.1e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140802
|
| SMART Domains |
Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4551
|
1 |
151 |
8.7e-68 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
C |
4: 156,255,029 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
A |
G |
17: 26,010,418 (GRCm39) |
Y104H |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,119,367 (GRCm39) |
K651E |
probably damaging |
Het |
| Atpaf2 |
A |
T |
11: 60,300,410 (GRCm39) |
|
probably null |
Het |
| Cd177 |
G |
T |
7: 24,457,440 (GRCm39) |
S200R |
probably benign |
Het |
| Cd209g |
A |
T |
8: 4,185,622 (GRCm39) |
T19S |
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,516,792 (GRCm39) |
W290R |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,458,843 (GRCm39) |
D3765G |
probably damaging |
Het |
| Dpy19l4 |
T |
G |
4: 11,290,411 (GRCm39) |
M327L |
probably benign |
Het |
| Eya3 |
G |
A |
4: 132,431,709 (GRCm39) |
G314D |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,657,632 (GRCm39) |
T503I |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,925,628 (GRCm39) |
S370P |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,241 (GRCm39) |
S45T |
probably benign |
Het |
| Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,276,381 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,834 (GRCm39) |
Y81C |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Homer1 |
G |
T |
13: 93,483,156 (GRCm39) |
R81L |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,171,544 (GRCm39) |
|
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,475,909 (GRCm39) |
I649T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,659,094 (GRCm39) |
N26S |
probably benign |
Het |
| Mgat5 |
T |
C |
1: 127,315,204 (GRCm39) |
L310P |
probably damaging |
Het |
| Pah |
T |
C |
10: 87,414,755 (GRCm39) |
L369P |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,853,917 (GRCm39) |
K844N |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,394 (GRCm39) |
T233A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,055 (GRCm39) |
T274A |
probably benign |
Het |
| Wdr48 |
A |
G |
9: 119,734,456 (GRCm39) |
Y125C |
probably damaging |
Het |
|
| Other mutations in D930020B18Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01669:D930020B18Rik
|
APN |
10 |
121,519,866 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01793:D930020B18Rik
|
APN |
10 |
121,507,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01907:D930020B18Rik
|
APN |
10 |
121,477,915 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01981:D930020B18Rik
|
APN |
10 |
121,528,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02545:D930020B18Rik
|
APN |
10 |
121,525,838 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03024:D930020B18Rik
|
APN |
10 |
121,521,527 (GRCm39) |
splice site |
probably benign |
|
|
bazooka_joe
|
UTSW |
10 |
121,503,709 (GRCm39) |
missense |
probably benign |
0.19 |
|
sluggo
|
UTSW |
10 |
121,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:D930020B18Rik
|
UTSW |
10 |
121,507,675 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0023:D930020B18Rik
|
UTSW |
10 |
121,525,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:D930020B18Rik
|
UTSW |
10 |
121,477,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2340:D930020B18Rik
|
UTSW |
10 |
121,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:D930020B18Rik
|
UTSW |
10 |
121,492,123 (GRCm39) |
intron |
probably benign |
|
|
R4990:D930020B18Rik
|
UTSW |
10 |
121,490,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:D930020B18Rik
|
UTSW |
10 |
121,490,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:D930020B18Rik
|
UTSW |
10 |
121,490,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:D930020B18Rik
|
UTSW |
10 |
121,490,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:D930020B18Rik
|
UTSW |
10 |
121,503,709 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5677:D930020B18Rik
|
UTSW |
10 |
121,505,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6401:D930020B18Rik
|
UTSW |
10 |
121,477,762 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6481:D930020B18Rik
|
UTSW |
10 |
121,497,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7070:D930020B18Rik
|
UTSW |
10 |
121,477,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:D930020B18Rik
|
UTSW |
10 |
121,507,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:D930020B18Rik
|
UTSW |
10 |
121,503,716 (GRCm39) |
splice site |
probably null |
|
|
R7408:D930020B18Rik
|
UTSW |
10 |
121,525,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:D930020B18Rik
|
UTSW |
10 |
121,503,650 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7559:D930020B18Rik
|
UTSW |
10 |
121,492,131 (GRCm39) |
intron |
probably benign |
|
|
R8215:D930020B18Rik
|
UTSW |
10 |
121,503,429 (GRCm39) |
nonsense |
probably null |
|
|
R8410:D930020B18Rik
|
UTSW |
10 |
121,521,435 (GRCm39) |
splice site |
probably benign |
|
|
R8790:D930020B18Rik
|
UTSW |
10 |
121,503,568 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8968:D930020B18Rik
|
UTSW |
10 |
121,490,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9063:D930020B18Rik
|
UTSW |
10 |
121,497,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9296:D930020B18Rik
|
UTSW |
10 |
121,497,011 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9710:D930020B18Rik
|
UTSW |
10 |
121,503,563 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9778:D930020B18Rik
|
UTSW |
10 |
121,503,565 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0021:D930020B18Rik
|
UTSW |
10 |
121,477,790 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1176:D930020B18Rik
|
UTSW |
10 |
121,503,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:D930020B18Rik
|
UTSW |
10 |
121,525,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation