Incidental Mutation 'IGL01907:D930020B18Rik'
ID |
179705 |
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 # |
IGL01907
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
121477493-121529820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121477915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 47
(N47D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120642]
[ENSMUST00000132744]
[ENSMUST00000140802]
[ENSMUST00000142501]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120642
AA Change: N65D
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113963 Gene: ENSMUSG00000047642 AA Change: N65D
Domain | Start | End | E-Value | Type |
Pfam:DUF4551
|
11 |
617 |
3.2e-237 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132744
AA Change: N47D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118274 Gene: ENSMUSG00000047642 AA Change: N47D
Domain | Start | End | E-Value | Type |
Pfam:DUF4551
|
1 |
148 |
3.6e-66 |
PFAM |
Pfam:DUF4551
|
142 |
443 |
6.1e-145 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140802
AA Change: N65D
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121976 Gene: ENSMUSG00000047642 AA Change: N65D
Domain | Start | End | E-Value | Type |
Pfam:DUF4551
|
1 |
151 |
8.7e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142501
|
SMART Domains |
Protein: ENSMUSP00000118939 Gene: ENSMUSG00000047642
Domain | Start | End | E-Value | Type |
Pfam:DUF4551
|
1 |
182 |
1.3e-74 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1g1 |
T |
C |
8: 110,569,975 (GRCm39) |
|
probably benign |
Het |
Asph |
A |
T |
4: 9,514,643 (GRCm39) |
D491E |
possibly damaging |
Het |
Cyrib |
A |
G |
15: 63,803,535 (GRCm39) |
|
probably benign |
Het |
Gad1 |
T |
C |
2: 70,404,470 (GRCm39) |
V120A |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Grin2b |
T |
G |
6: 135,710,738 (GRCm39) |
E936A |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,863,131 (GRCm39) |
F528L |
probably damaging |
Het |
Iyd |
C |
T |
10: 3,490,407 (GRCm39) |
P38S |
probably damaging |
Het |
Krt24 |
A |
G |
11: 99,176,030 (GRCm39) |
F2L |
unknown |
Het |
Mnat1 |
T |
A |
12: 73,319,213 (GRCm39) |
S279T |
probably benign |
Het |
Mptx1 |
A |
T |
1: 174,160,212 (GRCm39) |
I173L |
probably benign |
Het |
Or9g20 |
T |
A |
2: 85,629,946 (GRCm39) |
T223S |
probably benign |
Het |
Per1 |
T |
C |
11: 68,996,425 (GRCm39) |
S810P |
probably benign |
Het |
Racgap1 |
T |
A |
15: 99,524,214 (GRCm39) |
K398* |
probably null |
Het |
Rnf133 |
T |
C |
6: 23,649,303 (GRCm39) |
N209D |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,418,730 (GRCm39) |
E794G |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,699,346 (GRCm39) |
|
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,429,794 (GRCm39) |
T465A |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,675,865 (GRCm39) |
M1035T |
possibly damaging |
Het |
Spink5 |
A |
G |
18: 44,129,743 (GRCm39) |
N445D |
probably damaging |
Het |
Stard3nl |
G |
A |
13: 19,556,759 (GRCm39) |
A127V |
probably damaging |
Het |
Trim69 |
C |
T |
2: 121,998,142 (GRCm39) |
T38M |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp438 |
G |
A |
18: 5,213,815 (GRCm39) |
A381V |
probably 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 |
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 |
2014-05-07 |