Incidental Mutation 'IGL01793:D930020B18Rik'
ID |
155279 |
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 # |
IGL01793
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
121477493-121529820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121507736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 158
(I158T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120642]
[ENSMUST00000132744]
[ENSMUST00000140802]
[ENSMUST00000142501]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120642
AA Change: I361T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113963 Gene: ENSMUSG00000047642 AA Change: I361T
Domain | Start | End | E-Value | Type |
Pfam:DUF4551
|
11 |
617 |
3.2e-237 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132744
AA Change: I185T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118274 Gene: ENSMUSG00000047642 AA Change: I185T
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142501
AA Change: I158T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118939 Gene: ENSMUSG00000047642 AA Change: I158T
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
Gramd1a |
C |
T |
7: 30,833,838 (GRCm39) |
|
probably null |
Het |
Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
Kif6 |
T |
A |
17: 49,931,521 (GRCm39) |
I73N |
probably damaging |
Het |
Large1 |
A |
G |
8: 73,585,809 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
G |
T |
7: 54,821,997 (GRCm39) |
L171F |
probably damaging |
Het |
Naaladl1 |
C |
A |
19: 6,159,661 (GRCm39) |
|
probably null |
Het |
Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
Syt1 |
T |
C |
10: 108,419,836 (GRCm39) |
D275G |
possibly damaging |
Het |
Tmx1 |
A |
G |
12: 70,505,561 (GRCm39) |
D108G |
probably benign |
Het |
Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
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 |
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 |
2014-02-04 |