Incidental Mutation 'IGL02545:D930020B18Rik'
| ID |
297798 |
| 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 # |
IGL02545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121477493-121529820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121525838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 580
(H580R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120642]
[ENSMUST00000132744]
[ENSMUST00000140802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120642
AA Change: H580R
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: H580R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4551
|
11 |
617 |
3.2e-237 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132744
AA Change: H404R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: H404R
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,994 (GRCm39) |
L88P |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,590,684 (GRCm39) |
Q354* |
probably null |
Het |
| Aox3 |
A |
C |
1: 58,222,645 (GRCm39) |
D1146A |
probably damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,850 (GRCm39) |
H340L |
probably damaging |
Het |
| Ccni |
G |
T |
5: 93,335,636 (GRCm39) |
F167L |
probably benign |
Het |
| Ctcf |
A |
G |
8: 106,391,013 (GRCm39) |
T207A |
probably benign |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,177 (GRCm39) |
D53G |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,939,271 (GRCm39) |
L159Q |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,093,095 (GRCm39) |
I630T |
possibly damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,847,715 (GRCm39) |
T202A |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,607,009 (GRCm39) |
Y214C |
probably damaging |
Het |
| Gna14 |
T |
A |
19: 16,511,090 (GRCm39) |
S46R |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,043,153 (GRCm39) |
I627T |
probably damaging |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,359 (GRCm39) |
A87V |
probably damaging |
Het |
| Itch |
G |
A |
2: 155,014,506 (GRCm39) |
|
probably null |
Het |
| Klrb1b |
T |
C |
6: 128,797,272 (GRCm39) |
Q72R |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,082,853 (GRCm39) |
F144L |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,891,011 (GRCm39) |
|
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,338 (GRCm39) |
F72L |
probably damaging |
Het |
| Neu1 |
T |
A |
17: 35,150,477 (GRCm39) |
V32E |
probably benign |
Het |
| Or5k17 |
T |
A |
16: 58,746,833 (GRCm39) |
I34F |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,853,060 (GRCm39) |
K611E |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,706,280 (GRCm39) |
V340A |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,468,998 (GRCm39) |
|
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,481,306 (GRCm39) |
W210* |
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,079 (GRCm39) |
Y511H |
probably damaging |
Het |
| Psme4 |
T |
G |
11: 30,791,586 (GRCm39) |
V1147G |
possibly damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,654,754 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
T |
A |
12: 105,146,296 (GRCm39) |
|
probably benign |
Het |
| Trim54 |
T |
A |
5: 31,289,509 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,388,357 (GRCm39) |
R2143Q |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,113 (GRCm39) |
V168D |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,655,798 (GRCm39) |
M406K |
possibly damaging |
Het |
|
| Other mutations in D930020B18Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:D930020B18Rik
|
APN |
10 |
121,521,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation